TY - JOUR A1 - Thomas, Jessica E. A1 - Carvalho, Gary R. A1 - Haile, James A1 - Rawlence, Nicolas J. A1 - Martin, Michael D. A1 - Ho, Simon Y. W. A1 - Sigfusson, Arnor P. A1 - Josefsson, Vigfus A. A1 - Frederiksen, Morten A1 - Linnebjerg, Jannie F. A1 - Castruita, Jose A. Samaniego A1 - Niemann, Jonas A1 - Sinding, Mikkel-Holger S. A1 - Sandoval-Velasco, Marcela A1 - Soares, Andre E. R. A1 - Lacy, Robert A1 - Barilaro, Christina A1 - Best, Juila A1 - Brandis, Dirk A1 - Cavallo, Chiara A1 - Elorza, Mikelo A1 - Garrett, Kimball L. A1 - Groot, Maaike A1 - Johansson, Friederike A1 - Lifjeld, Jan T. A1 - Nilson, Goran A1 - Serjeanston, Dale A1 - Sweet, Paul A1 - Fuller, Errol A1 - Hufthammer, Anne Karin A1 - Meldgaard, Morten A1 - Fjeldsa, Jon A1 - Shapiro, Beth A1 - Hofreiter, Michael A1 - Stewart, John R. A1 - Gilbert, M. Thomas P. A1 - Knapp, Michael T1 - Demographic reconstruction from ancient DNA supports rapid extinction of the great auk JF - eLife N2 - The great auk was once abundant and distributed across the North Atlantic. It is now extinct, having been heavily exploited for its eggs, meat, and feathers. We investigated the impact of human hunting on its demise by integrating genetic data, GPS-based ocean current data, and analyses of population viability. We sequenced complete mitochondrial genomes of 41 individuals from across the species' geographic range and reconstructed population structure and population dynamics throughout the Holocene. Taken together, our data do not provide any evidence that great auks were at risk of extinction prior to the onset of intensive human hunting in the early 16th century. In addition, our population viability analyses reveal that even if the great auk had not been under threat by environmental change, human hunting alone could have been sufficient to cause its extinction. Our results emphasise the vulnerability of even abundant and widespread species to intense and localised exploitation. Y1 - 2019 U6 - https://doi.org/10.7554/eLife.47509 SN - 2050-084X VL - 8 PB - eLife Sciences Publications CY - Cambridge ER - TY - GEN A1 - Beermann, Jan A1 - Westbury, Michael V. A1 - Hofreiter, Michael A1 - Hilgers, Leon A1 - Deister, Fabian A1 - Neumann, Hermann A1 - Raupach, Michael J. T1 - Cryptic species in a well-known habitat BT - applying taxonomics to the amphipod genus Epimeria (Crustacea, Peracarida) T2 - Postprints der Universität Potsdam : Mathematisch Naturwissenschaftliche Reihe N2 - Taxonomy plays a central role in biological sciences. It provides a communication system for scientists as it aims to enable correct identification of the studied organisms. As a consequence, species descriptions should seek to include as much available information as possible at species level to follow an integrative concept of 'taxonomics'. Here, we describe the cryptic species Epimeria frankei sp. nov. from the North Sea, and also redescribe its sister species, Epimeria cornigera. The morphological information obtained is substantiated by DNA barcodes and complete nuclear 18S rRNA gene sequences. In addition, we provide, for the first time, full mitochondrial genome data as part of a metazoan species description for a holotype, as well as the neotype. This study represents the first successful implementation of the recently proposed concept of taxonomics, using data from high-throughput technologies for integrative taxonomic studies, allowing the highest level of confidence for both biodiversity and ecological research. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 1059 KW - multiple sequence alignment KW - Oxidase Subunit-I KW - mitochondrial genome KW - control region KW - Ribosomal-RNA KW - asellota crustacea KW - gammarus crustacea KW - deep-sea KW - DNA KW - evolution Y1 - 2020 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-460792 SN - 1866-8372 IS - 1059 ER - TY - JOUR A1 - Thomas, Jessica E. A1 - Carvalho, Gary R. A1 - Haile, James A1 - Martin, Michael D. A1 - Castruita, Jose A. Samaniego A1 - Niemann, Jonas A1 - Sinding, Mikkel-Holger S. A1 - Sandoval-Velasco, Marcela A1 - Rawlence, Nicolas J. A1 - Fuller, Errol A1 - Fjeldsa, Jon A1 - Hofreiter, Michael A1 - Stewart, John R. A1 - Gilbert, M. Thomas P. A1 - Knapp, Michael T1 - An ‛Aukward’ tale BT - a genetic approach to discover the whereabouts of the Last Great Auks JF - Genes N2 - One hundred and seventy-three years ago, the last two Great Auks, Pinguinus impennis, ever reliably seen were killed. Their internal organs can be found in the collections of the Natural History Museum of Denmark, but the location of their skins has remained a mystery. In 1999, Great Auk expert Errol Fuller proposed a list of five potential candidate skins in museums around the world. Here we take a palaeogenomic approach to test which—if any—of Fuller’s candidate skins likely belong to either of the two birds. Using mitochondrial genomes from the five candidate birds (housed in museums in Bremen, Brussels, Kiel, Los Angeles, and Oldenburg) and the organs of the last two known individuals, we partially solve the mystery that has been on Great Auk scholars’ minds for generations and make new suggestions as to the whereabouts of the still-missing skin from these two birds. KW - ancient DNA KW - extinct birds KW - mitochondrial genome KW - museum specimens KW - palaeogenomics Y1 - 2017 U6 - https://doi.org/10.3390/genes8060164 SN - 2073-4425 VL - 8 IS - 6 SP - 164 PB - MDPI CY - Basel ER - TY - JOUR A1 - Beermann, Jan A1 - Westbury, Michael V. A1 - Hofreiter, Michael A1 - Hilgers, Leon A1 - Deister, Fabian A1 - Neumann, Hermann A1 - Raupach, Michael J. T1 - Cryptic species in a well-known habitat BT - applying taxonomics to the amphipod genus Epimeria (Crustacea, Peracarida) JF - Scientific reports N2 - Taxonomy plays a central role in biological sciences. It provides a communication system for scientists as it aims to enable correct identification of the studied organisms. As a consequence, species descriptions should seek to include as much available information as possible at species level to follow an integrative concept of 'taxonomics'. Here, we describe the cryptic species Epimeria frankei sp. nov. from the North Sea, and also redescribe its sister species, Epimeria cornigera. The morphological information obtained is substantiated by DNA barcodes and complete nuclear 18S rRNA gene sequences. In addition, we provide, for the first time, full mitochondrial genome data as part of a metazoan species description for a holotype, as well as the neotype. This study represents the first successful implementation of the recently proposed concept of taxonomics, using data from high-throughput technologies for integrative taxonomic studies, allowing the highest level of confidence for both biodiversity and ecological research. Y1 - 2018 U6 - https://doi.org/10.1038/s41598-018-25225-x SN - 2045-2322 VL - 8 PB - Nature Publ. Group CY - London ER - TY - JOUR A1 - Chang, Dan A1 - Knapp, Michael A1 - Enk, Jacob A1 - Lippold, Sebastian A1 - Kircher, Martin A1 - Lister, Adrian M. A1 - MacPhee, Ross D. E. A1 - Widga, Christopher A1 - Czechowski, Paul A1 - Sommer, Robert A1 - Hodges, Emily A1 - Stümpel, Nikolaus A1 - Barnes, Ian A1 - Dalén, Love A1 - Derevianko, Anatoly A1 - Germonpré, Mietje A1 - Hillebrand-Voiculescu, Alexandra A1 - Constantin, Silviu A1 - Kuznetsova, Tatyana A1 - Mol, Dick A1 - Rathgeber, Thomas A1 - Rosendahl, Wilfried A1 - Tikhonov, Alexey N. A1 - Willerslev, Eske A1 - Hannon, Greg A1 - Lalueza i Fox, Carles A1 - Joger, Ulrich A1 - Poinar, Hendrik N. A1 - Hofreiter, Michael A1 - Shapiro, Beth T1 - The evolutionary and phylogeographic history of woolly mammoths BT - a comprehensive mitogenomic analysis JF - Scientific reports N2 - Near the end of the Pleistocene epoch, populations of the woolly mammoth (Mammuthus primigenius) were distributed across parts of three continents, from western Europe and northern Asia through Beringia to the Atlantic seaboard of North America. Nonetheless, questions about the connectivity and temporal continuity of mammoth populations and species remain unanswered. We use a combination of targeted enrichment and high-throughput sequencing to assemble and interpret a data set of 143 mammoth mitochondrial genomes, sampled from fossils recovered from across their Holarctic range. Our dataset includes 54 previously unpublished mitochondrial genomes and significantly increases the coverage of the Eurasian range of the species. The resulting global phylogeny confirms that the Late Pleistocene mammoth population comprised three distinct mitochondrial lineages that began to diverge ~1.0–2.0 million years ago (Ma). We also find that mammoth mitochondrial lineages were strongly geographically partitioned throughout the Pleistocene. In combination, our genetic results and the pattern of morphological variation in time and space suggest that male-mediated gene flow, rather than large-scale dispersals, was important in the Pleistocene evolutionary history of mammoths. Y1 - 2017 U6 - https://doi.org/10.1038/srep44585 SN - 2045-2322 VL - 7 PB - Nature Publishing Group CY - London ER - TY - GEN A1 - Knapp, Michael A1 - Lalueza-Fox, Carles A1 - Hofreiter, Michael T1 - Re-inventing ancient human DNA T2 - Postprints der Universität Potsdam Mathematisch-Naturwissenschaftliche Reihe N2 - For a long time, the analysis of ancient human DNA represented one of the most controversial disciplines in an already controversial field of research. Scepticism in this field was only matched by the long-lasting controversy over the authenticity of ancient pathogen DNA. This ambiguous view on ancient human DNA had a dichotomous root. On the one hand, the interest in ancient human DNA is great because such studies touch on the history and evolution of our own species. On the other hand, because these studies are dealing with samples from our own species, results are easily compromised by contamination of the experiments with modern human DNA, which is ubiquitous in the environment. Consequently, some of the most disputed studies published - apart maybe from early reports on million year old dinosaur or amber DNA - reported DNA analyses from human subfossil remains. However, the development of so-called next- or second-generation sequencing (SGS) in 2005 and the technological advances associated with it have generated new confidence in the genetic study of ancient human remains. The ability to sequence shorter DNA fragments than with PCR amplification coupled to traditional Sanger sequencing, along with very high sequencing throughput have both reduced the risk of sequencing modern contamination and provided tools to evaluate the authenticity of DNA sequence data. The field is now rapidly developing, providing unprecedented insights into the evolution of our own species and past human population dynamics as well as the evolution and history of human pathogens and epidemics. Here, we review how recent technological improvements have rapidly transformed ancient human DNA research from a highly controversial subject to a central component of modern anthropological research. We also discuss potential future directions of ancient human DNA research. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 853 KW - archaic humans KW - human evolution KW - human population genomics KW - next/second-generation sequencing Y1 - 2020 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-431775 SN - 1866-8372 IS - 853 ER - TY - JOUR A1 - Westbury, Michael V. A1 - Dalerumb, Fredrik A1 - Noren, Karin A1 - Hofreiter, Michael T1 - Complete mitochondrial genome of a bat-eared fox (Otocyon megalotis), along with phylogenetic considerations JF - Mitochondrial DNA. Part B N2 - The bat-eared fox, Otocyon megalotis, is the only member of its genus and is thought to occupy a basal position within the dog family. These factors can lead to challenges in complete mitochondrial reconstructions and accurate phylogenetic positioning. Here, we present the first complete mitochondrial genome of the bat-eared fox recovered using shotgun sequencing and iterative mapping to three distantly related species. Phylogenetic analyses placed the bat-eared fox basal in the Canidae family within the clade including true foxes (Vulpes) and the raccoon dog (Nyctereutes) with high support values. This position is in good agreement with previously published results based on short fragments of mitochondrial and nuclear genes, therefore adding more support to the basal positioning of the bat-eared fox within Canidae. KW - Phylogenetics KW - mitochondria KW - iterative mapping KW - Canidae Y1 - 2017 U6 - https://doi.org/10.1080/23802359.2017.1331325 SN - 2380-2359 VL - 2 IS - 1 SP - 298 EP - 299 PB - Routledge, Taylor & Francis Group CY - London ER - TY - GEN A1 - Westbury, Michael V. A1 - Baleka, Sina Isabelle A1 - Barlow, Axel A1 - Hartmann, Stefanie A1 - Paijmans, Johanna L. A. A1 - Kramarz, Alejandro A1 - Forasiepi, Analía M. A1 - Bond, Mariano A1 - Gelfo, Javier N. A1 - Reguero, Marcelo A. A1 - López-Mendoza, Patricio A1 - Taglioretti, Matias A1 - Scaglia, Fernando A1 - Rinderknecht, Andrés A1 - Jones, Washington A1 - Mena, Francisco A1 - Billet, Guillaume A1 - de Muizon, Christian A1 - Aguilar, José Luis A1 - MacPhee, Ross D.E. A1 - Hofreiter, Michael T1 - A mitogenomic timetree for Darwin's enigmatic South American mammal Macrauchenia patachonica T2 - Postprints der Universität Potsdam Mathematisch-Naturwissenschaftliche Reihe N2 - The unusual mix of morphological traits displayed by extinct South American native ungulates (SANUs) confounded both Charles Darwin, who first discovered them, and Richard Owen, who tried to resolve their relationships. Here we report an almost complete mitochondrial genome for the litoptern Macrauchenia. Our dated phylogenetic tree places Macrauchenia as sister to Perissodactyla, but close to the radiation of major lineages within Laurasiatheria. This position is consistent with a divergence estimate of B66Ma (95% credibility interval, 56.64-77.83 Ma) obtained for the split between Macrauchenia and other Panperissodactyla. Combined with their morphological distinctiveness, this evidence supports the positioning of Litopterna (possibly in company with other SANU groups) as a separate order within Laurasiatheria. We also show that, when using strict criteria, extinct taxa marked by deep divergence times and a lack of close living relatives may still be amenable to palaeogenomic analysis through iterative mapping against more distant relatives. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 793 KW - ancient DNA KW - evolutionary history KW - genome sequence KW - reveals KW - contamination KW - alignment KW - reads KW - bones Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-440801 SN - 1866-8372 IS - 793 ER - TY - JOUR A1 - Paijmans, Johanna L. A. A1 - Barnett, Ross A1 - Gilbert, M. Thomas P. A1 - Zepeda-Mendoza, M. Lisandra A1 - Reumer, Jelle W. F. A1 - de Vos, John A1 - Zazula, Grant A1 - Nagel, Doris A1 - Baryshnikov, Gennady F. A1 - Leonard, Jennifer A. A1 - Rohland, Nadin A1 - Westbury, Michael V. A1 - Barlow, Axel A1 - Hofreiter, Michael T1 - Evolutionary History of Saber-Toothed Cats Based on Ancient Mitogenomics JF - Current biology N2 - Saber-toothed cats (Machairodontinae) are among the most widely recognized representatives of the now largely extinct Pleistocene megafauna. However, many aspects of their ecology, evolution, and extinction remain uncertain. Although ancient-DNA studies have led to huge advances in our knowledge of these aspects of many other megafauna species (e.g., mammoths and cave bears), relatively few ancient-DNA studies have focused on saber-toothed cats [1-3], and they have been restricted to short fragments of mitochondrial DNA. Here we investigate the evolutionary history of two lineages of saber-toothed cats (Smilodon and Homotherium) in relation to living carnivores and find that the Machairodontinae form a well-supported clade that is distinct from all living felids. We present partial mitochondrial genomes from one S. populator sample and three Homotherium sp. samples, including the only Late Pleistocene Homotherium sample from Eurasia [4]. We confirm the identification of the unique Late Pleistocene European fossil through ancient-DNA analyses, thus strengthening the evidence that Homotherium occurred in Europe over 200,000 years later than previously believed. This in turn forces a re-evaluation of its demography and extinction dynamics. Within the Machairodontinae, we find a deep divergence between Smilodon and Homotherium (similar to 18 million years) but limited diversity between the American and European Homotherium specimens. The genetic data support the hypothesis that all Late Pleistocene (or post-Villafrancian) Homotherium should be considered a single species, H. latidens, which was previously proposed based on morphological data [5, 6]. Y1 - 2017 U6 - https://doi.org/10.1016/j.cub.2017.09.033 SN - 0960-9822 SN - 1879-0445 VL - 27 SP - 3330 EP - + PB - Cell Press CY - Cambridge ER - TY - JOUR A1 - Westbury, Michael V. A1 - Baleka, Sina Isabelle A1 - Barlow, Axel A1 - Hartmann, Stefanie A1 - Paijmans, Johanna L. A. A1 - Kramarz, Alejandro A1 - Forasiepi, Analia M. A1 - Bond, Mariano A1 - Gelfo, Javier N. A1 - Reguero, Marcelo A. A1 - Lopez-Mendoza, Patricio A1 - Taglioretti, Matias A1 - Scaglia, Fernando A1 - Rinderknecht, Andres A1 - Jones, Washington A1 - Mena, Francisco A1 - Billet, Guillaume A1 - de Muizon, Christian A1 - Luis Aguilar, Jose A1 - MacPhee, Ross D. E. A1 - Hofreiter, Michael T1 - A mitogenomic timetree for Darwin’s enigmatic South American mammal Macrauchenia patachonica JF - Nature Communications N2 - The unusual mix of morphological traits displayed by extinct South American native ungulates (SANUs) confounded both Charles Darwin, who first discovered them, and Richard Owen, who tried to resolve their relationships. Here we report an almost complete mitochondrial genome for the litoptern Macrauchenia. Our dated phylogenetic tree places Macrauchenia as sister to Perissodactyla, but close to the radiation of major lineages within Laurasiatheria. This position is consistent with a divergence estimate of B66Ma (95% credibility interval, 56.64-77.83 Ma) obtained for the split between Macrauchenia and other Panperissodactyla. Combined with their morphological distinctiveness, this evidence supports the positioning of Litopterna (possibly in company with other SANU groups) as a separate order within Laurasiatheria. We also show that, when using strict criteria, extinct taxa marked by deep divergence times and a lack of close living relatives may still be amenable to palaeogenomic analysis through iterative mapping against more distant relatives. Y1 - 2017 U6 - https://doi.org/10.1038/ncomms15951 SN - 2041-1723 VL - 8 PB - Nature Publ. Group CY - London ER - TY - JOUR A1 - Gaudry, Michael J. A1 - Jastroch, Martin A1 - Treberg, Jason R. A1 - Hofreiter, Michael A1 - Paijmans, Johanna L. A. A1 - Starrett, James A1 - Wales, Nathan A1 - Signore, Anthony V. A1 - Springer, Mark S. A1 - Campbell, Kevin L. T1 - Inactivation of thermogenic UCP1 as a historical contingency in multiple placental mammal clades JF - Science Advances Y1 - 2017 U6 - https://doi.org/10.1126/sciadv.1602878 SN - 2375-2548 VL - 3 SP - S337 EP - S337 PB - American Assoc. for the Advancement of Science CY - Washington ER - TY - CHAP A1 - Hofreiter, Michael A1 - Barlow, Axel A1 - Paijmans, Johanna L. A. A1 - Westbury, Michael V. T1 - Genomic analyses from highly degraded DNA T2 - Genome Y1 - 2015 SN - 0831-2796 SN - 1480-3321 VL - 58 IS - 5 SP - 228 EP - 228 PB - NRC Research Press CY - Ottawa ER - TY - JOUR A1 - Sheng, Gui-Lian A1 - Basler, Nikolas A1 - Ji, Xue-Ping A1 - Paijmans, Johanna L. A. A1 - Alberti, Federica A1 - Preick, Michaela A1 - Hartmann, Stefanie A1 - Westbury, Michael V. A1 - Yuan, Jun-Xia A1 - Jablonski, Nina G. A1 - Xenikoudakis, Georgios A1 - Hou, Xin-Dong A1 - Xiao, Bo A1 - Liu, Jian-Hui A1 - Hofreiter, Michael A1 - Lai, Xu-Long A1 - Barlow, Axel T1 - Paleogenome reveals genetic contribution of extinct giant panda to extant populations JF - Current biology N2 - Historically, the giant panda was widely distributed from northern China to southwestern Asia [1]. As a result of range contraction and fragmentation, extant individuals are currently restricted to fragmented mountain ranges on the eastern margin of the Qinghai-Tibet plateau, where they are distributed among three major population clusters [2]. However, little is known about the genetic consequences of this dramatic range contraction. For example, were regions where giant pandas previously existed occupied by ancestors of present-day populations, or were these regions occupied by genetically distinct populations that are now extinct? If so, is there any contribution of these extinct populations to the genomes of giant pandas living today? To investigate these questions, we sequenced the nuclear genome of an similar to 5,000-year-old giant panda from Jiangdongshan, Teng-chong County in Yunnan Province, China. We find that this individual represents a genetically distinct population that diverged prior to the diversification of modern giant panda populations. We find evidence of differential admixture with this ancient population among modern individuals originating from different populations as well as within the same population. We also find evidence for directional gene flow, which transferred alleles from the ancient population into the modern giant panda lineages. A variable proportion of the genomes of extant individuals is therefore likely derived from the ancient population represented by our sequenced individual. Although extant giant panda populations retain reasonable genetic diversity, our results suggest that this represents only part of the genetic diversity this species harbored prior to its recent range contractions. Y1 - 2019 U6 - https://doi.org/10.1016/j.cub.2019.04.021 SN - 0960-9822 SN - 1879-0445 VL - 29 IS - 10 SP - 1695 EP - 1700 PB - Cell Press CY - Cambridge ER - TY - JOUR A1 - Pinhasi, Ron A1 - Fernandes, Daniel A1 - Sirak, Kendra A1 - Novak, Mario A1 - Connell, Sarah A1 - Alpaslan-Roodenberg, Songul A1 - Gerritsen, Fokke A1 - Moiseyev, Vyacheslav A1 - Gromov, Andrey A1 - Raczky, Pal A1 - Anders, Alexandra A1 - Pietrusewsky, Michael A1 - Rollefson, Gary A1 - Jovanovic, Marija A1 - Trinhhoang, Hiep A1 - Bar-Oz, Guy A1 - Oxenham, Marc A1 - Matsumura, Hirofumi A1 - Hofreiter, Michael T1 - Optimal Ancient DNA Yields from the Inner Ear Part of the Human Petrous Bone JF - PLoS one N2 - The invention and development of next or second generation sequencing methods has resulted in a dramatic transformation of ancient DNA research and allowed shotgun sequencing of entire genomes from fossil specimens. However, although there are exceptions, most fossil specimens contain only low (similar to 1% or less) percentages of endogenous DNA. The only skeletal element for which a systematically higher endogenous DNA content compared to other skeletal elements has been shown is the petrous part of the temporal bone. In this study we investigate whether (a) different parts of the petrous bone of archaeological human specimens give different percentages of endogenous DNA yields, (b) there are significant differences in average DNA read lengths, damage patterns and total DNA concentration, and (c) it is possible to obtain endogenous ancient DNA from petrous bones from hot environments. We carried out intra-petrous comparisons for ten petrous bones from specimens from Holocene archaeological contexts across Eurasia dated between 10,0001,800 calibrated years before present (cal. BP). We obtained shotgun DNA sequences from three distinct areas within the petrous: a spongy part of trabecular bone (part A), the dense part of cortical bone encircling the osseous inner ear, or otic capsule (part B), and the dense part within the otic capsule (part C). Our results confirm that dense bone parts of the petrous bone can provide high endogenous aDNA yields and indicate that endogenous DNA fractions for part C can exceed those obtained for part B by up to 65-fold and those from part A by up to 177-fold, while total endogenous DNA concentrations are up to 126-fold and 109-fold higher for these comparisons. Our results also show that while endogenous yields from part C were lower than 1% for samples from hot (both arid and humid) parts, the DNA damage patterns indicate that at least some of the reads originate from ancient DNA molecules, potentially enabling ancient DNA analyses of samples from hot regions that are otherwise not amenable to ancient DNA analyses. Y1 - 2015 U6 - https://doi.org/10.1371/journal.pone.0129102 SN - 1932-6203 VL - 10 IS - 6 PB - PLoS CY - San Fransisco ER - TY - JOUR A1 - King, Turi E. A1 - Gonzalez-Fortes, Gloria M. A1 - Balaresque, Patricia A1 - Thomas, Mark G. A1 - Balding, David A1 - Delser, Pierpaolo Maisano A1 - Neumann, Rita A1 - Parson, Walther A1 - Knapp, Michael A1 - Walsh, Susan A1 - Tonasso, Laure A1 - Holt, John A1 - Kayser, Manfred A1 - Appleby, Jo A1 - Forster, Peter A1 - Ekserdjian, David A1 - Hofreiter, Michael A1 - Schuerer, Kevin T1 - Identification of the remains of King Richard III JF - Nature Communications Y1 - 2014 U6 - https://doi.org/10.1038/ncomms6631 SN - 2041-1723 VL - 5 PB - Nature Publ. Group CY - London ER - TY - GEN A1 - Pinhasi, Ron A1 - Fernandes, Daniel A1 - Sirak, Kendra A1 - Novak, Mario A1 - Connell, Sarah A1 - Alpaslan-Roodenberg, Songül A1 - Gerritsen, Fokke A1 - Moiseyev, Vyacheslav A1 - Gromov, Andrey A1 - Raczky, Pál A1 - Anders, Alexandra A1 - Pietrusewsky, Michael A1 - Rollefson, Gary A1 - Jovanovic, Marija A1 - Trinhhoang, Hiep A1 - Bar-Oz, Guy A1 - Oxenham, Marc A1 - Matsumura, Hirofumi A1 - Hofreiter, Michael T1 - Optimal ancient DNA yields from the inner ear part of the human petrous bone T2 - Postprints der Universität Potsdam : Mathematisch-Naturwissenschafliche Reihe N2 - The invention and development of next or second generation sequencing methods has resulted in a dramatic transformation of ancient DNA research and allowed shotgun sequencing of entire genomes from fossil specimens. However, although there are exceptions, most fossil specimens contain only low (similar to 1% or less) percentages of endogenous DNA. The only skeletal element for which a systematically higher endogenous DNA content compared to other skeletal elements has been shown is the petrous part of the temporal bone. In this study we investigate whether (a) different parts of the petrous bone of archaeological human specimens give different percentages of endogenous DNA yields, (b) there are significant differences in average DNA read lengths, damage patterns and total DNA concentration, and (c) it is possible to obtain endogenous ancient DNA from petrous bones from hot environments. We carried out intra-petrous comparisons for ten petrous bones from specimens from Holocene archaeological contexts across Eurasia dated between 10,0001,800 calibrated years before present (cal. BP). We obtained shotgun DNA sequences from three distinct areas within the petrous: a spongy part of trabecular bone (part A), the dense part of cortical bone encircling the osseous inner ear, or otic capsule (part B), and the dense part within the otic capsule (part C). Our results confirm that dense bone parts of the petrous bone can provide high endogenous aDNA yields and indicate that endogenous DNA fractions for part C can exceed those obtained for part B by up to 65-fold and those from part A by up to 177-fold, while total endogenous DNA concentrations are up to 126-fold and 109-fold higher for these comparisons. Our results also show that while endogenous yields from part C were lower than 1% for samples from hot (both arid and humid) parts, the DNA damage patterns indicate that at least some of the reads originate from ancient DNA molecules, potentially enabling ancient DNA analyses of samples from hot regions that are otherwise not amenable to ancient DNA analyses. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 515 KW - genome sequence KW - extraction KW - patterns KW - survival KW - damage Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-409557 SN - 1866-8372 IS - 515 ER - TY - JOUR A1 - Ludwig, Arne A1 - Reissmann, Monika A1 - Benecke, Norbert A1 - Bellone, Rebecca A1 - Sandoval-Castellanos, Edson A1 - Cieslak, Michael A1 - González-Fortes, Gloria M. A1 - Morales-Muniz, Arturo A1 - Hofreiter, Michael A1 - Pruvost, Melanie T1 - Twenty-five thousand years of fluctuating selection on leopard complex spotting and congenital night blindness in horses JF - Philosophical transactions of the Royal Society of London : B, Biological sciences N2 - Leopard complex spotting is inherited by the incompletely dominant locus, LP, which also causes congenital stationary night blindness in homozygous horses. We investigated an associated single nucleotide polymorphism in the TRPM1 gene in 96 archaeological bones from 31 localities from Late Pleistocene (approx. 17 000 YBP) to medieval times. The first genetic evidence of LP spotting in Europe dates back to the Pleistocene. We tested for temporal changes in the LP associated allele frequency and estimated coefficients of selection by means of approximate Bayesian computation analyses. Our results show that at least some of the observed frequency changes are congruent with shifts in artificial selection pressure for the leopard complex spotting phenotype. In early domestic horses from Kirklareli-Kanligecit (Turkey) dating to 2700-2200 BC, a remarkably high number of leopard spotted horses (six of 10 individuals) was detected including one adult homozygote. However, LP seems to have largely disappeared during the late Bronze Age, suggesting selection against this phenotype in early domestic horses. During the Iron Age, LP reappeared, probably by reintroduction into the domestic gene pool from wild animals. This picture of alternating selective regimes might explain how genetic diversity was maintained in domestic animals despite selection for specific traits at different times. KW - ancient DNA KW - coat colour KW - domestication KW - Equus KW - palaeogenetics KW - population Y1 - 2015 U6 - https://doi.org/10.1098/rstb.2013.0386 SN - 0962-8436 SN - 1471-2970 VL - 370 IS - 1660 PB - Royal Society CY - London ER - TY - JOUR A1 - Knapp, Michael A1 - Lalueza-Fox, Carles A1 - Hofreiter, Michael T1 - Re-inventing ancient human DNA JF - Investigative Genetics N2 - For a long time, the analysis of ancient human DNA represented one of the most controversial disciplines in an already controversial field of research. Scepticism in this field was only matched by the long-lasting controversy over the authenticity of ancient pathogen DNA. This ambiguous view on ancient human DNA had a dichotomous root. On the one hand, the interest in ancient human DNA is great because such studies touch on the history and evolution of our own species. On the other hand, because these studies are dealing with samples from our own species, results are easily compromised by contamination of the experiments with modern human DNA, which is ubiquitous in the environment. Consequently, some of the most disputed studies published - apart maybe from early reports on million year old dinosaur or amber DNA - reported DNA analyses from human subfossil remains. However, the development of so-called next-or second-generation sequencing (SGS) in 2005 and the technological advances associated with it have generated new confidence in the genetic study of ancient human remains. The ability to sequence shorter DNA fragments than with PCR amplification coupled to traditional Sanger sequencing, along with very high sequencing throughput have both reduced the risk of sequencing modern contamination and provided tools to evaluate the authenticity of DNA sequence data. The field is now rapidly developing, providing unprecedented insights into the evolution of our own species and past human population dynamics as well as the evolution and history of human pathogens and epidemics. Here, we review how recent technological improvements have rapidly transformed ancient human DNA research from a highly controversial subject to a central component of modern anthropological research. We also discuss potential future directions of ancient human DNA research. KW - Archaic humans KW - Human evolution KW - Human population genomics KW - Next/second-generation sequencing Y1 - 2015 U6 - https://doi.org/10.1186/s13323-015-0020-4 SN - 2041-2223 VL - 6 PB - BioMed Central CY - London ER - TY - GEN A1 - Westbury, Michael V. A1 - Hartmann, Stefanie A1 - Barlow, Axel A1 - Wiesel, Ingrid A1 - Leo, Viyanna A1 - Welch, Rebecca A1 - Parker, Daniel M. A1 - Sicks, Florian A1 - Ludwig, Arne A1 - Dalen, Love A1 - Hofreiter, Michael T1 - Extended and continuous decline in effective population size results in low genomic diversity in the world's rarest hyena species, the brown hyena T2 - Postprints der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe N2 - Hyenas (family Hyaenidae), as the sister group to cats (family Felidae), represent a deeply diverging branch within the cat-like carnivores (Feliformia). With an estimated population size of <10,000 individuals worldwide, the brown hyena (Parahyaena brunnea) represents the rarest of the four extant hyena species and has been listed as Near Threatened by the IUCN. Here, we report a high-coverage genome from a captive bred brown hyena and both mitochondrial and low-coverage nuclear genomes of 14 wild-caught brown hyena individuals from across southern Africa. We find that brown hyena harbor extremely low genetic diversity on both the mitochondrial and nuclear level, most likely resulting from a continuous and ongoing decline in effective population size that started similar to 1 Ma and dramatically accelerated towards the end of the Pleistocene. Despite the strikingly low genetic diversity, we find no evidence of inbreeding within the captive bred individual and reveal phylogeographic structure, suggesting the existence of several potential subpopulations within the species. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 589 KW - evolution KW - hyena KW - genomics KW - population genomics KW - diversity Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-414132 SN - 1866-8372 IS - 589 ER - TY - JOUR A1 - Westbury, Michael V. A1 - Hartmann, Stefanie A1 - Barlow, Axel A1 - Wiesel, Ingrid A1 - Leo, Viyanna A1 - Welch, Rebecca A1 - Parker, Daniel M. A1 - Sicks, Florian A1 - Ludwig, Arne A1 - Dalen, Love A1 - Hofreiter, Michael T1 - Extended and continuous decline in effective population size results in low genomic diversity in the world's rarest hyena species, the brown hyena JF - Molecular biology and evolution N2 - Hyenas (family Hyaenidae), as the sister group to cats (family Felidae), represent a deeply diverging branch within the cat-like carnivores (Feliformia). With an estimated population size of <10,000 individuals worldwide, the brown hyena (Parahyaena brunnea) represents the rarest of the four extant hyena species and has been listed as Near Threatened by the IUCN. Here, we report a high-coverage genome from a captive bred brown hyena and both mitochondrial and low-coverage nuclear genomes of 14 wild-caught brown hyena individuals from across southern Africa. We find that brown hyena harbor extremely low genetic diversity on both the mitochondrial and nuclear level, most likely resulting from a continuous and ongoing decline in effective population size that started similar to 1 Ma and dramatically accelerated towards the end of the Pleistocene. Despite the strikingly low genetic diversity, we find no evidence of inbreeding within the captive bred individual and reveal phylogeographic structure, suggesting the existence of several potential subpopulations within the species. KW - evolution KW - hyena KW - genomics KW - population genomics KW - diversity Y1 - 2018 U6 - https://doi.org/10.1093/molbev/msy037 SN - 0737-4038 SN - 1537-1719 VL - 35 IS - 5 SP - 1225 EP - 1237 PB - Oxford Univ. Press CY - Oxford ER - TY - JOUR A1 - Folkertsma, Remco A1 - Westbury, Michael V. A1 - Eccard, Jana A1 - Hofreiter, Michael T1 - The complete mitochondrial genome of the common vole, Microtus arvalis (Rodentia: Arvicolinae) JF - Mitochondrial DNA Part B N2 - The common vole, Microtus arvalis belongs to the genus Microtus in the subfamily Arvicolinae. In this study, the complete mitochondrial genome of M. arvalis was recovered using shotgun sequencing and an iterative mapping approach using three related species. Phylogenetic analyses using the sequence of 21 arvicoline species place the common vole as a sister species to the East European vole (Microtus levis), but as opposed to previous results we find no support for the recognition of the genus Neodon within the subfamily Arvicolinae, as this is, as well as the genus Lasiopodomys, found within the Microtus genus. KW - Microtus arvalis KW - Arvicolinae KW - mitochondrial genome KW - common vole KW - phylogeny Y1 - 2018 U6 - https://doi.org/10.1080/23802359.2018.1457994 SN - 2380-2359 VL - 3 IS - 1 SP - 446 EP - 447 ER - TY - GEN A1 - Folkertsma, Remco A1 - Westbury, Michael V. A1 - Eccard, Jana A1 - Hofreiter, Michael T1 - The complete mitochondrial genome of the common vole, Microtus arvalis (Rodentia: Arvicolinae) T2 - Postprints der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe N2 - The common vole, Microtus arvalis belongs to the genus Microtus in the subfamily Arvicolinae. In this study, the complete mitochondrial genome of M. arvalis was recovered using shotgun sequencing and an iterative mapping approach using three related species. Phylogenetic analyses using the sequence of 21 arvicoline species place the common vole as a sister species to the East European vole (Microtus levis), but as opposed to previous results we find no support for the recognition of the genus Neodon within the subfamily Arvicolinae, as this is, as well as the genus Lasiopodomys, found within the Microtus genus. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 481 KW - Microtus arvalis KW - Arvicolinae KW - mitochondrial genome KW - common vole KW - phylogeny Y1 - 2018 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-412994 SN - 1866-8372 IS - 481 ER - TY - JOUR A1 - Chen, Shun-Gang A1 - Li, Ji A1 - Zhang, Fan A1 - Xiao, Bo A1 - Hu, Jia-Ming A1 - Cui, Yin-Qiu A1 - Hofreiter, Michael A1 - Hou, Xin-Dong A1 - Sheng, Gui-Lian A1 - Lai, Xu-Long A1 - Yuan, Jun-Xia T1 - Different maternal lineages revealed by ancient mitochondrial genome of Camelus bactrianus from China JF - Mitochondrial DNA Part A N2 - Domestic Bactrian camel (Camelus bactrianus) used to be one of the most important livestock species in Chinese history, as well as the major transport carrier on the ancient Silk Road. However, archeological studies on Chinese C. bactrianus are still limited, and molecular biology research on this species is mainly focused on modern specimens. In this study, we retrieved the complete mitochondrial genome from a C. bactrianus specimen, which was excavated from northwestern China and dated at 1290-1180 cal. Phylogenetic analyses using 18 mitochondrial genomes indicated that the C. bactrianus clade was divided into two maternal lineages. The majority of samples originating from Iran to Japan and Mongolia belong to subclade A1, while our sample together with two Mongolian individuals formed the much smaller subclade A2. Furthermore, the divergence time of these two maternal lineages was estimated as 165 Kya (95% credibility interval 117-222 Kya), this might indicate that several different evolutionary lineages were incorporated into the domestic gene pool during the initial domestication process. Bayesian skyline plot (BSP) analysis a slow increase in female effective population size of C. bactrianus from 5000 years ago, which to the beginning of domestication of C. bactrianus. The present study also revealed that there were extensive exchanges of genetic information among C. bactrianus populations in regions along the Silk Road. KW - Camelus bactrianus KW - mitochondrial genome KW - ancient DNA KW - phylogeny KW - maternal lineages Y1 - 2019 U6 - https://doi.org/10.1080/24701394.2019.1659250 SN - 2470-1394 SN - 2470-1408 VL - 30 IS - 7 SP - 786 EP - 793 PB - Routledge, Taylor & Francis Group CY - Abingdon ER - TY - JOUR A1 - Xiang, Hai A1 - Gao, Jianqiang A1 - Cai, Dawei A1 - Luo, Yunbing A1 - Yu, Baoquan A1 - Liu, Langqing A1 - Liu, Ranran A1 - Zhou, Hui A1 - Chen, Xiaoyong A1 - Dun, Weitao A1 - Wang, Xi A1 - Hofreiter, Michael A1 - Zhao, Xingbo T1 - Origin and dispersal of early domestic pigs in northern China JF - Scientific reports N2 - It is widely accepted that modern pigs were domesticated independently at least twice, and Chinese native pigs are deemed as direct descendants of the first domesticated pigs in the corresponding domestication centers. By analyzing mitochondrial DNA sequences of an extensive sample set spanning 10,000 years, we find that the earliest pigs from the middle Yellow River region already carried the maternal lineages that are dominant in both younger archaeological populations and modern Chinese pigs. Our data set also supports early Neolithic pig utilization and a long-term in situ origin for northeastern Chinese pigs during 8,000-3,500 BP, suggesting a possibly independent domestication in northeast China. Additionally, we observe a genetic replacement in ancient northeast Chinese pigs since 3,500 BP. The results not only provide increasing evidence for pig origin in the middle Yellow River region but also depict an outline for the process of early pig domestication in northeast China. Y1 - 2017 U6 - https://doi.org/10.1038/s41598-017-06056-8 SN - 2045-2322 VL - 7 PB - Nature Publ. Group CY - London ER - TY - JOUR A1 - Palkopoulou, Eleftheria A1 - Lipson, Mark A1 - Mallick, Swapan A1 - Nielsen, Svend A1 - Rohland, Nadin A1 - Baleka, Sina Isabelle A1 - Karpinski, Emil A1 - Ivancevici, Atma M. A1 - Thu-Hien To, A1 - Kortschak, Daniel A1 - Raison, Joy M. A1 - Qu, Zhipeng A1 - Chin, Tat-Jun A1 - Alt, Kurt W. A1 - Claesson, Stefan A1 - Dalen, Love A1 - MacPhee, Ross D. E. A1 - Meller, Harald A1 - Rocar, Alfred L. A1 - Ryder, Oliver A. A1 - Heiman, David A1 - Young, Sarah A1 - Breen, Matthew A1 - Williams, Christina A1 - Aken, Bronwen L. A1 - Ruffier, Magali A1 - Karlsson, Elinor A1 - Johnson, Jeremy A1 - Di Palma, Federica A1 - Alfoldi, Jessica A1 - Adelsoni, David L. A1 - Mailund, Thomas A1 - Munch, Kasper A1 - Lindblad-Toh, Kerstin A1 - Hofreiter, Michael A1 - Poinar, Hendrik A1 - Reich, David T1 - A comprehensive genomic history of extinct and living elephants JF - Proceedings of the National Academy of Sciences of the United States of America KW - paleogenomics KW - elephantid evolution KW - mammoth KW - admixture KW - species divergence Y1 - 2018 U6 - https://doi.org/10.1073/pnas.1720554115 SN - 0027-8424 VL - 115 IS - 11 SP - E2566 EP - E2574 PB - National Acad. of Sciences CY - Washington ER - TY - JOUR A1 - Wutke, Saskia A1 - Sandoval-Castellanos, Edson A1 - Benecke, Norbert A1 - Döhle, Hans-Jürgen A1 - Friederich, Susanne A1 - Gonzalez, Javier A1 - Hofreiter, Michael A1 - Lougas, Lembi A1 - Magnell, Ola A1 - Malaspinas, Anna-Sapfo A1 - Morales-Muniz, Arturo A1 - Orlando, Ludovic A1 - Reissmann, Monika A1 - Trinks, Alexandra A1 - Ludwig, Arne T1 - Decline of genetic diversity in ancient domestic stallions in Europe JF - Science Advances N2 - Present-day domestic horses are immensely diverse in their maternally inherited mitochondrial DNA, yet they show very little variation on their paternally inherited Y chromosome. Although it has recently been shown that Y chromosomal diversity in domestic horses was higher at least until the Iron Age, when and why this diversity disappeared remain controversial questions. We genotyped 16 recently discovered Y chromosomal single-nucleotide polymorphisms in 96 ancient Eurasian stallions spanning the early domestication stages (Copper and Bronze Age) to the Middle Ages. Using this Y chromosomal time series, which covers nearly the entire history of horse domestication, we reveal how Y chromosomal diversity changed over time. Our results also show that the lack of multiple stallion lineages in the extant domestic population is caused by neither a founder effect nor random demographic effects but instead is the result of artificial selection-initially during the Iron Age by nomadic people from the Eurasian steppes and later during the Roman period. Moreover, the modern domestic haplotype probably derived from another, already advantageous, haplotype, most likely after the beginning of the domestication. In line with recent findings indicating that the Przewalski and domestic horse lineages remained connected by gene flow after they diverged about 45,000 years ago, we present evidence for Y chromosomal introgression of Przewalski horses into the gene pool of European domestic horses at least until medieval times. Y1 - 2018 U6 - https://doi.org/10.1126/sciadv.aap9691 SN - 2375-2548 VL - 4 IS - 4 PB - American Assoc. for the Advancement of Science CY - Washington ER - TY - GEN A1 - Siska, Veronika A1 - Jones, Eppie Ruth A1 - Jeon, Sungwon A1 - Bhak, Youngjune A1 - Kim, Hak-Min A1 - Cho, Yun Sung A1 - Kim, Hyunho A1 - Lee, Kyusang A1 - Veselovskaya, Elizaveta A1 - Balueva, Tatiana A1 - Gallego-Llorente, Marcos A1 - Hofreiter, Michael A1 - Bradley, Daniel G. A1 - Eriksson, Anders A1 - Pinhasi, Ron A1 - Bhak, Jong A1 - Manica, Andrea T1 - Genome-wide data from two early Neolithic East Asian individuals dating to 7700 years ago T2 - Postprints der Universität Potsdam Mathematisch-Naturwissenschaftliche Reihe N2 - Ancient genomes have revolutionized our understanding of Holocene prehistory and, particularly, the Neolithic transition in western Eurasia. In contrast, East Asia has so far received little attention, despite representing a core region at which the Neolithic transition took place independently similar to 3 millennia after its onset in the Near East. We report genome-wide data from two hunter-gatherers from Devil's Gate, an early Neolithic cave site (dated to similar to 7.7 thousand years ago) located in East Asia, on the border between Russia and Korea. Both of these individuals are genetically most similar to geographically close modern populations from the Amur Basin, all speaking Tungusic languages, and, in particular, to the Ulchi. The similarity to nearby modern populations and the low levels of additional genetic material in the Ulchi imply a high level of genetic continuity in this region during the Holocene, a pattern that markedly contrasts with that reported for Europe. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 791 KW - Mitochondrial-DNA analysis KW - positive selection KW - jomon skeletons KW - ancient DNA KW - pigmentation KW - population KW - admixture KW - edar KW - gene KW - polymorohism Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-439977 SN - 1866-8372 IS - 791 ER - TY - GEN A1 - Mohandesan, Elmira A1 - Speller, Camilla F. A1 - Peters, Joris A1 - Uerpmann, Hans-Peter A1 - Uerpmann, Margarethe A1 - De Cupere, Bea A1 - Hofreiter, Michael A1 - Burger, Pamela A. T1 - Combined hybridization capture and shotgun sequencing for ancient DNA analysis of extinct wild and domestic dromedary camel T2 - Postprints der Universität Potsdam Mathematisch-Naturwissenschaftliche Reihe N2 - The performance of hybridization capture combined with next-generation sequencing (NGS) has seen limited investigation with samples from hot and arid regions until now. We applied hybridization capture and shotgun sequencing to recover DNA sequences from bone specimens of ancient-domestic dromedary (Camelus dromedarius) and its extinct ancestor, the wild dromedary from Jordan, Syria, Turkey and the Arabian Peninsula, respectively. Our results show that hybridization capture increased the percentage of mitochondrial DNA (mtDNA) recovery by an average 187-fold and in some cases yielded virtually complete mitochondrial (mt) genomes at multifold coverage in a single capture experiment. Furthermore, we tested the effect of hybridization temperature and time by using a touchdown approach on a limited number of samples. We observed no significant difference in the number of unique dromedary mtDNA reads retrieved with the standard capture compared to the touchdown method. In total, we obtained 14 partial mitochondrial genomes from ancient-domestic dromedaries with 17-95% length coverage and 1.27-47.1-fold read depths for the covered regions. Using whole-genome shotgun sequencing, we successfully recovered endogenous dromedary nuclear DNA (nuDNA) from domestic and wild dromedary specimens with 1-1.06-fold read depths for covered regions. Our results highlight that despite recent methodological advances, obtaining ancient DNA (aDNA) from specimens recovered from hot, arid environments is still problematic. Hybridization protocols require specific optimization, and samples at the limit of DNA preservation need multiple replications of DNA extraction and hybridization capture as has been shown previously for Middle Pleistocene specimens. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 789 KW - ancient DNA KW - Camelus dromedarius KW - capture enrichment KW - degraded DNA KW - mitochondrial genome (mtDNA) KW - next-generation sequencing Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-439955 SN - 1866-8372 IS - 789 SP - 300 EP - 313 ER - TY - JOUR A1 - Dolotovskaya, Sofya A1 - Bordallo, Juan Torroba A1 - Haus, Tanja A1 - Noll, Angela A1 - Hofreiter, Michael A1 - Zinner, Dietmar A1 - Roos, Christian T1 - Comparing mitogenomic timetrees for two African savannah primate genera (Chlorocebus and Papio) BT - Corrigenda JF - Zoological journal of the Linnean Society Y1 - 2020 U6 - https://doi.org/10.1093/zoolinnean/zlaa026 SN - 0024-4082 SN - 1096-3642 N1 - This is a correction to: Zoological Journal of the Linnean Society. - 181 (2017) 2. - S. 471 – 483, https://doi.org/10.1093/zoolinnean/zlx001 VL - 190 IS - 3 SP - 1071 EP - 1073 PB - Oxford Univ. Press CY - Oxford ER - TY - JOUR A1 - Krüger, Johanna A1 - Foerster, Verena Elisabeth A1 - Trauth, Martin H. A1 - Hofreiter, Michael A1 - Tiedemann, Ralph T1 - Exploring the Past Biosphere of Chew Bahir/Southern Ethiopia: Cross-Species Hybridization Capture of Ancient Sedimentary DNA from a Deep Drill Core JF - Frontiers in Earth Science N2 - Eastern Africa has been a prime target for scientific drilling because it is rich in key paleoanthropological sites as well as in paleolakes, containing valuable paleoclimatic information on evolutionary time scales. The Hominin Sites and Paleolakes Drilling Project (HSPDP) explores these paleolakes with the aim of reconstructing environmental conditions around critical episodes of hominin evolution. Identification of biological taxa based on their sedimentary ancient DNA (sedaDNA) traces can contribute to understand past ecological and climatological conditions of the living environment of our ancestors. However, sedaDNA recovery from tropical environments is challenging because high temperatures, UV irradiation, and desiccation result in highly degraded DNA. Consequently, most of the DNA fragments in tropical sediments are too short for PCR amplification. We analyzed sedaDNA in the upper 70 m of the composite sediment core of the HSPDP drill site at Chew Bahir for eukaryotic remnants. We first tested shotgun high throughput sequencing which leads to metagenomes dominated by bacterial DNA of the deep biosphere, while only a small fraction was derived from eukaryotic, and thus probably ancient, DNA. Subsequently, we performed cross-species hybridization capture of sedaDNA to enrich ancient DNA (aDNA) from eukaryotic remnants for paleoenvironmental analysis, using established barcoding genes (cox1 and rbcL for animals and plants, respectively) from 199 species that may have had relatives in the past biosphere at Chew Bahir. Metagenomes yielded after hybridization capture are richer in reads with similarity to cox1 and rbcL in comparison to metagenomes without prior hybridization capture. Taxonomic assignments of the reads from these hybridization capture metagenomes also yielded larger fractions of the eukaryotic domain. For reads assigned to cox1, inferred wet periods were associated with high inferred relative abundances of putative limnic organisms (gastropods, green algae), while inferred dry periods showed increased relative abundances for insects. These findings indicate that cross-species hybridization capture can be an effective approach to enhance the information content of sedaDNA in order to explore biosphere changes associated with past environmental conditions, enabling such analyses even under tropical conditions. KW - Chew Bahir KW - hybridization capture KW - ICDP KW - paleoclimate KW - past biosphere KW - sedaDNA KW - sediment core Y1 - 2021 U6 - https://doi.org/10.3389/feart.2021.683010 SN - 2296-6463 SP - 1 EP - 20 PB - Frontiers in Earth Science CY - Lausanne, Schweiz ER - TY - GEN A1 - Gonzalez-Fortes, Gloria M. A1 - Tassi, Francesca A1 - Ghirotto, Silvia A1 - Henneberger, Kirstin A1 - Hofreiter, Michael A1 - Barbujani, Guido T1 - The Neolithic transition at the Western edge of Europe T2 - American journal of physical anthropology Y1 - 2017 SN - 0002-9483 SN - 1096-8644 VL - 162 SP - 198 EP - 198 PB - Wiley CY - Hoboken ER - TY - JOUR A1 - Mohandesan, Elmira A1 - Speller, Camilla F. A1 - Peters, Joris A1 - Uerpmann, Hans-Peter A1 - Uerpmann, Margarethe A1 - De Cupere, Bea A1 - Hofreiter, Michael A1 - Burger, Pamela A. T1 - Combined hybridization capture and shotgun sequencing for ancient DNA analysis of extinct wild and domestic dromedary camel JF - Molecular ecology resources N2 - The performance of hybridization capture combined with next-generation sequencing (NGS) has seen limited investigation with samples from hot and arid regions until now. We applied hybridization capture and shotgun sequencing to recover DNA sequences from bone specimens of ancient-domestic dromedary (Camelus dromedarius) and its extinct ancestor, the wild dromedary from Jordan, Syria, Turkey and the Arabian Peninsula, respectively. Our results show that hybridization capture increased the percentage of mitochondrial DNA (mtDNA) recovery by an average 187-fold and in some cases yielded virtually complete mitochondrial (mt) genomes at multifold coverage in a single capture experiment. Furthermore, we tested the effect of hybridization temperature and time by using a touchdown approach on a limited number of samples. We observed no significant difference in the number of unique dromedary mtDNA reads retrieved with the standard capture compared to the touchdown method. In total, we obtained 14 partial mitochondrial genomes from ancient-domestic dromedaries with 17-95% length coverage and 1.27-47.1-fold read depths for the covered regions. Using whole-genome shotgun sequencing, we successfully recovered endogenous dromedary nuclear DNA (nuDNA) from domestic and wild dromedary specimens with 1-1.06-fold read depths for covered regions. Our results highlight that despite recent methodological advances, obtaining ancient DNA (aDNA) from specimens recovered from hot, arid environments is still problematic. Hybridization protocols require specific optimization, and samples at the limit of DNA preservation need multiple replications of DNA extraction and hybridization capture as has been shown previously for Middle Pleistocene specimens. KW - ancient DNA KW - Camelus dromedarius KW - capture enrichment KW - degraded DNA KW - mitochondrial genome (mtDNA) KW - next-generation sequencing Y1 - 2017 U6 - https://doi.org/10.1111/1755-0998.12551 SN - 1755-098X SN - 1755-0998 VL - 17 IS - 2 SP - 300 EP - 313 PB - Wiley CY - Hoboken ER - TY - JOUR A1 - Siska, Veronika A1 - Jones, Eppie Ruth A1 - Jeon, Sungwon A1 - Bhak, Youngjune A1 - Kim, Hak-Min A1 - Cho, Yun Sung A1 - Kim, Hyunho A1 - Lee, Kyusang A1 - Veselovskaya, Elizaveta A1 - Balueva, Tatiana A1 - Gallego-Llorente, Marcos A1 - Hofreiter, Michael A1 - Bradley, Daniel G. A1 - Eriksson, Anders A1 - Pinhasi, Ron A1 - Bhak, Jong A1 - Manica, Andrea T1 - Genome-wide data from two early Neolithic East Asian individuals dating to 7700 years ago JF - Science Advances N2 - Ancient genomes have revolutionized our understanding of Holocene prehistory and, particularly, the Neolithic transition in western Eurasia. In contrast, East Asia has so far received little attention, despite representing a core region at which the Neolithic transition took place independently ~3 millennia after its onset in the Near East. We report genome-wide data from two hunter-gatherers from Devil’s Gate, an early Neolithic cave site (dated to ~7.7 thousand years ago) located in East Asia, on the border between Russia and Korea. Both of these individuals are genetically most similar to geographically close modern populations from the Amur Basin, all speaking Tungusic languages, and, in particular, to the Ulchi. The similarity to nearby modern populations and the low levels of additional genetic material in the Ulchi imply a high level of genetic continuity in this region during the Holocene, a pattern that markedly contrasts with that reported for Europe. Y1 - 2017 U6 - https://doi.org/10.1126/sciadv.1601877 SN - 2375-2548 VL - 3 IS - 2 PB - American Assoc. for the Advancement of Science CY - Washington ER - TY - JOUR A1 - Fages, Antoine A1 - Hanghoj, Kristian A1 - Khan, Naveed A1 - Gaunitz, Charleen A1 - Seguin-Orlando, Andaine A1 - Leonardi, Michela A1 - Constantz, Christian McCrory A1 - Gamba, Cristina A1 - Al-Rasheid, Khaled A. S. A1 - Albizuri, Silvia A1 - Alfarhan, Ahmed H. A1 - Allentoft, Morten A1 - Alquraishi, Saleh A1 - Anthony, David A1 - Baimukhanov, Nurbol A1 - Barrett, James H. A1 - Bayarsaikhan, Jamsranjav A1 - Benecke, Norbert A1 - Bernaldez-Sanchez, Eloisa A1 - Berrocal-Rangel, Luis A1 - Biglari, Fereidoun A1 - Boessenkool, Sanne A1 - Boldgiv, Bazartseren A1 - Brem, Gottfried A1 - Brown, Dorcas A1 - Burger, Joachim A1 - Crubezy, Eric A1 - Daugnora, Linas A1 - Davoudi, Hossein A1 - Damgaard, Peter de Barros A1 - de Chorro y de Villa-Ceballos, Maria de los Angeles A1 - Deschler-Erb, Sabine A1 - Detry, Cleia A1 - Dill, Nadine A1 - Oom, Maria do Mar A1 - Dohr, Anna A1 - Ellingvag, Sturla A1 - Erdenebaatar, Diimaajav A1 - Fathi, Homa A1 - Felkel, Sabine A1 - Fernandez-Rodriguez, Carlos A1 - Garcia-Vinas, Esteban A1 - Germonpre, Mietje A1 - Granado, Jose D. A1 - Hallsson, Jon H. A1 - Hemmer, Helmut A1 - Hofreiter, Michael A1 - Kasparov, Aleksei A1 - Khasanov, Mutalib A1 - Khazaeli, Roya A1 - Kosintsev, Pavel A1 - Kristiansen, Kristian A1 - Kubatbek, Tabaldiev A1 - Kuderna, Lukas A1 - Kuznetsov, Pavel A1 - Laleh, Haeedeh A1 - Leonard, Jennifer A. A1 - Lhuillier, Johanna A1 - von Lettow-Vorbeck, Corina Liesau A1 - Logvin, Andrey A1 - Lougas, Lembi A1 - Ludwig, Arne A1 - Luis, Cristina A1 - Arruda, Ana Margarida A1 - Marques-Bonet, Tomas A1 - Silva, Raquel Matoso A1 - Merz, Victor A1 - Mijiddorj, Enkhbayar A1 - Miller, Bryan K. A1 - Monchalov, Oleg A1 - Mohaseb, Fatemeh A. A1 - Morales, Arturo A1 - Nieto-Espinet, Ariadna A1 - Nistelberger, Heidi A1 - Onar, Vedat A1 - Palsdottir, Albina H. A1 - Pitulko, Vladimir A1 - Pitskhelauri, Konstantin A1 - Pruvost, Melanie A1 - Sikanjic, Petra Rajic A1 - Papesa, Anita Rapan A1 - Roslyakova, Natalia A1 - Sardari, Alireza A1 - Sauer, Eberhard A1 - Schafberg, Renate A1 - Scheu, Amelie A1 - Schibler, Jorg A1 - Schlumbaum, Angela A1 - Serrand, Nathalie A1 - Serres-Armero, Aitor A1 - Shapiro, Beth A1 - Seno, Shiva Sheikhi A1 - Shevnina, Irina A1 - Shidrang, Sonia A1 - Southon, John A1 - Star, Bastiaan A1 - Sykes, Naomi A1 - Taheri, Kamal A1 - Taylor, William A1 - Teegen, Wolf-Rudiger A1 - Vukicevic, Tajana Trbojevic A1 - Trixl, Simon A1 - Tumen, Dashzeveg A1 - Undrakhbold, Sainbileg A1 - Usmanova, Emma A1 - Vahdati, Ali A1 - Valenzuela-Lamas, Silvia A1 - Viegas, Catarina A1 - Wallner, Barbara A1 - Weinstock, Jaco A1 - Zaibert, Victor A1 - Clavel, Benoit A1 - Lepetz, Sebastien A1 - Mashkour, Marjan A1 - Helgason, Agnar A1 - Stefansson, Kari A1 - Barrey, Eric A1 - Willerslev, Eske A1 - Outram, Alan K. A1 - Librado, Pablo A1 - Orlando, Ludovic T1 - Tracking five millennia of horse management with extensive ancient genome time series JF - Cell N2 - Horse domestication revolutionized warfare and accelerated travel, trade, and the geographic expansion of languages. Here, we present the largest DNA time series for a non-human organism to date, including genome-scale data from 149 ancient animals and 129 ancient genomes (>= 1-fold coverage), 87 of which are new. This extensive dataset allows us to assess the modem legacy of past equestrian civilisations. We find that two extinct horse lineages existed during early domestication, one at the far western (Iberia) and the other at the far eastern range (Siberia) of Eurasia. None of these contributed significantly to modern diversity. We show that the influence of Persian-related horse lineages increased following the Islamic conquests in Europe and Asia. Multiple alleles associated with elite-racing, including at the MSTN "speed gene," only rose in popularity within the last millennium. Finally, the development of modem breeding impacted genetic diversity more dramatically than the previous millennia of human management. Y1 - 2019 U6 - https://doi.org/10.1016/j.cell.2019.03.049 SN - 0092-8674 SN - 1097-4172 VL - 177 IS - 6 SP - 1419 EP - 1435 PB - Cell Press CY - Cambridge ER - TY - JOUR A1 - Dolotovskaya, Sofya A1 - Bordallo, Juan Torroba A1 - Haus, Tanja A1 - Noll, Angela A1 - Hofreiter, Michael A1 - Zinner, Dietmar A1 - Roos, Christian T1 - Comparing mitogenomic timetrees for two African savannah primate genera (Chlorocebus and Papio) JF - Zoological Journal of the Linnean Society N2 - Complete mitochondrial (mtDNA) genomes have proved to be useful in reconstructing primate phylogenies with higher resolution and confidence compared to reconstructions based on partial mtDNA sequences. Here, we analyse complete mtDNA genomes of African green monkeys (genus Chlorocebus), a widely distributed primate genus in Africa representing an interesting phylogeographical model for the evolution of savannah species. Previous studies on partial mtDNA sequences revealed nine major clades, suggesting several cases of para- and polyphyly among Chlorocebus species. However, in these studies, phylogenetic relationships among several clades were not resolved, and divergence times were not estimated. We analysed complete mtDNA genomes for ten Chlorocebus samples representing major mtDNA clades to find stronger statistical support in the phylogenetic reconstruction than in the previous studies and to estimate divergence times. Our results confirmed para- and polyphyletic relationships of most Chlorocebus species, while the support for the phylogenetic relationships between the mtDNA clades increased compared to the previous studies. Our results indicate an initial west-east division in the northern part of the Chlorocebus range with subsequent divergence into north-eastern and southern clades. This phylogeographic scenario contrasts with that for another widespread African savannah primate genus, the baboons (Papio), for which a dispersal from southern Africa into East and West Africa was suggested. KW - African green monkeys KW - baboons KW - mitochondrial genomes KW - phylogeny KW - phylogeography Y1 - 2017 U6 - https://doi.org/10.1093/zoolinnean/zlx001 SN - 0024-4082 SN - 1096-3642 VL - 181 IS - 2 SP - 471 EP - 483 PB - Oxford Univ. Press CY - Oxford ER - TY - GEN A1 - Huynen, Leon A1 - Suzuki, Takayuki A1 - Ogura, Toshihiko A1 - Watanabe, Yusuke A1 - Millar, Craig D. A1 - Hofreiter, Michael A1 - Smith, Craig A1 - Mirmoeini, Sara A1 - Lambert, David M. T1 - Reconstruction and in vivo analysis of the extinct tbx5 gene from ancient wingless moa (Aves: Dinornithiformes) T2 - Postprints der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe N2 - Background The forelimb-specific gene tbx5 is highly conserved and essential for the development of forelimbs in zebrafish, mice, and humans. Amongst birds, a single order, Dinornithiformes, comprising the extinct wingless moa of New Zealand, are unique in having no skeletal evidence of forelimb-like structures. Results To determine the sequence of tbx5 in moa, we used a range of PCR-based techniques on ancient DNA to retrieve all nine tbx5 exons and splice sites from the giant moa, Dinornis. Moa Tbx5 is identical to chicken Tbx5 in being able to activate the downstream promotors of fgf10 and ANF. In addition we show that missexpression of moa tbx5 in the hindlimb of chicken embryos results in the formation of forelimb features, suggesting that Tbx5 was fully functional in wingless moa. An alternatively spliced exon 1 for tbx5 that is expressed specifically in the forelimb region was shown to be almost identical between moa and ostrich, suggesting that, as well as being fully functional, tbx5 is likely to have been expressed normally in moa since divergence from their flighted ancestors, approximately 60 mya. Conclusions The results suggests that, as in mice, moa tbx5 is necessary for the induction of forelimbs, but is not sufficient for their outgrowth. Moa Tbx5 may have played an important role in the development of moa’s remnant forelimb girdle, and may be required for the formation of this structure. Our results further show that genetic changes affecting genes other than tbx5 must be responsible for the complete loss of forelimbs in moa. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 1117 KW - tbx5 KW - Moa KW - gene expression KW - ancient DNA KW - development KW - forelimb Y1 - 2021 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-431599 SN - 1866-8372 IS - 1117 ER - TY - GEN A1 - Alter, S. Elizabeth A1 - Meyer, Matthias A1 - Post, Klaas A1 - Czechowski, Paul A1 - Gravlund, Peter A1 - Gaines, Cork A1 - Rosenbaum, Howard C. A1 - Kaschner, Kristin A1 - Turvey, Samuel T. A1 - van der Plicht, Johannes A1 - Shapiro, Beth A1 - Hofreiter, Michael T1 - Climate impacts on transocean dispersal and habitat in gray whales from the Pleistocene to 2100 T2 - Postprints der Universität Potsdam : Mathematisch Naturwissenschaftliche Reihe N2 - Arctic animals face dramatic habitat alteration due to ongoing climate change. Understanding how such species have responded to past glacial cycles can help us forecast their response to today's changing climate. Gray whales are among those marine species likely to be strongly affected by Arctic climate change, but a thorough analysis of past climate impacts on this species has been complicated by lack of information about an extinct population in the Atlantic. While little is known about the history of Atlantic gray whales or their relationship to the extant Pacific population, the extirpation of the Atlantic population during historical times has been attributed to whaling. We used a combination of ancient and modern DNA, radiocarbon dating and predictive habitat modelling to better understand the distribution of gray whales during the Pleistocene and Holocene. Our results reveal that dispersal between the Pacific and Atlantic was climate dependent and occurred both during the Pleistocene prior to the last glacial period and the early Holocene immediately following the opening of the Bering Strait. Genetic diversity in the Atlantic declined over an extended interval that predates the period of intensive commercial whaling, indicating this decline may have been precipitated by Holocene climate or other ecological causes. These first genetic data for Atlantic gray whales, particularly when combined with predictive habitat models for the year 2100, suggest that two recent sightings of gray whales in the Atlantic may represent the beginning of the expansion of this species' habitat beyond its currently realized range. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 965 KW - ancient DNA KW - climate change KW - last glacial maximum KW - marine mammal Y1 - 2020 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-438920 SN - 1866-8372 IS - 965 SP - 1510 EP - 1522 ER - TY - GEN A1 - Gallego-Llorente, Marcos A1 - Sarah, Connell A1 - Jones, Eppie R. A1 - Merrett, Deborah C. A1 - Jeon, Y. A1 - Eriksson, Anders A1 - Siska, Veronika A1 - Gamba, Cristina A1 - Meiklejohn, Christopher A1 - Beyer, Robert A1 - Jeon, Sungwon A1 - Cho, Yun Sung A1 - Hofreiter, Michael A1 - Bhak, Jong A1 - Manica, Andrea A1 - Pinhasi, Ron T1 - The genetics of an early Neolithic pastoralist from the Zagros, Iran T2 - Postprints der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe N2 - The agricultural transition profoundly changed human societies. We sequenced and analysed the first genome (1.39x) of an early Neolithic woman from Ganj Dareh, in the Zagros Mountains of Iran, a site with early evidence for an economy based on goat herding, ca. 10,000 BP. We show that Western Iran was inhabited by a population genetically most similar to hunter-gatherers from the Caucasus, but distinct from the Neolithic Anatolian people who later brought food production into Europe. The inhabitants of Ganj Dareh made little direct genetic contribution to modern European populations, suggesting those of the Central Zagros were somewhat isolated from other populations of the Fertile Crescent. Runs of homozygosity are of a similar length to those from Neolithic farmers, and shorter than those of Caucasus and Western Hunter-Gatherers, suggesting that the inhabitants of Ganj Dareh did not undergo the large population bottleneck suffered by their northern neighbours. While some degree of cultural diffusion between Anatolia, Western Iran and other neighbouring regions is possible, the genetic dissimilarity between early Anatolian farmers and the inhabitants of Ganj Dareh supports a model in which Neolithic societies in these areas were distinct. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 952 KW - whole-genome association KW - ancient KW - domestication KW - agriculture KW - mountains KW - diffusion KW - migration KW - admixture KW - patterns KW - sequence KW - archaeology KW - biological anthropology Y1 - 2020 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-439355 SN - 1866-8372 IS - 952 ER - TY - GEN A1 - González-Fortes, Gloria M. A1 - Jones, Eppie R. A1 - Lightfoot, Emma A1 - Bonsall, Clive A1 - Lazar, Catalin A1 - Grandal-d’Anglade, Aurora A1 - Garralda, María Dolores A1 - Drak, Labib A1 - Siska, Veronika A1 - Simalcsik, Angela A1 - Boroneant, Adina A1 - Romaní, Juan Ramón Vidal A1 - Vaqueiro Rodríguez, Marcos A1 - Arias, Pablo A1 - Pinhasi, Ron A1 - Manica, Andrea A1 - Hofreiter, Michael T1 - Paleogenomic evidence for multi-generational mixing between Neolithic Farmers and Mesolithic Hunter-Gatherers in the lower Danube Basin T2 - Postprints der Universität Potsdam Mathematisch-Naturwissenschaftliche Reihe N2 - The transition from hunting and gathering to farming involved profound cultural and technological changes. In Western and Central Europe, these changes occurred rapidly and synchronously after the arrival of early farmers of Anatolian origin [1-3], who largely replaced the local Mesolithic hunter-gatherers [1, 4-6]. Further east, in the Baltic region, the transition was gradual, with little or no genetic input from incoming farmers [7]. Here we use ancient DNA to investigate the relationship between hunter-gatherers and farmers in the Lower Danube basin, a geographically intermediate area that is characterized by a rapid Neolithic transition but also by the presence of archaeological evidence that points to cultural exchange, and thus possible admixture, between hunter-gatherers and farmers. We recovered four human paleogenomes (1.13 to 4.13 coverage) from Romania spanning a time transect between 8.8 thousand years ago (kya) and 5.4 kya and supplemented them with two Mesolithic genomes (1.73- and 5.33) from Spain to provide further context on the genetic background of Mesolithic Europe. Our results show major Western hunter-gatherer (WHG) ancestry in a Romanian Eneolithic sample with a minor, but sizeable, contribution from Anatolian farmers, suggesting multiple admixture events between hunter-gatherers and farmers. Dietary stableisotope analysis of this sample suggests a mixed terrestrial/ aquatic diet. Our results provide support for complex interactions among hunter-gatherers and farmers in the Danube basin, demonstrating that in some regions, demic and cultural diffusion were not mutually exclusive, but merely the ends of a continuum for the process of Neolithization. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 794 KW - ancient DNA KW - eneolithic KW - neolithic transition KW - Romania KW - Iron Gates KW - mesolithic Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-440115 SN - 1866-8372 IS - 794 SP - 1801 EP - 1820 ER - TY - GEN A1 - Meyer, Matthias A1 - Palkopoulou, Eleftheria A1 - Baleka, Sina Isabelle A1 - Stiller, Mathias A1 - Penkman, Kirsty E. H. A1 - Alt, Kurt W. A1 - Ishida, Yasuko A1 - Mania, Dietrich A1 - Mallick, Swapan A1 - Meijer, Tom A1 - Meller, Harald A1 - Nagel, Sarah A1 - Nickel, Birgit A1 - Ostritz, Sven A1 - Rohland, Nadin A1 - Schauer, Karol A1 - Schüler, Tim A1 - Roca, Alfred L. A1 - Reich, David A1 - Shapiro, Beth A1 - Hofreiter, Michael T1 - Palaeogenomes of Eurasian straight-tusked elephants challenge the current view of elephant evolution T2 - Postprints der Universität Potsdam Mathematisch-Naturwissenschaftliche Reihe N2 - The straight-tusked elephants Palaeoloxodon spp. were widespread across Eurasia during the Pleistocene. Phylogenetic reconstructions using morphological traits have grouped them with Asian elephants (Elephas maximus), and many paleontologists place Palaeoloxodon within Elephas. Here, we report the recovery of full mitochondrial genomes from four and partial nuclear genomes from two P. antiquus fossils. These fossils were collected at two sites in Germany, Neumark-Nord and Weimar-Ehringsdorf, and likely date to interglacial periods similar to 120 and similar to 244 thousand years ago, respectively. Unexpectedly, nuclear and mitochondrial DNA analyses suggest that P. antiquus was a close relative of extant African forest elephants (Loxodonta cyclotis). Species previously referred to Palaeoloxodon are thus most parsimoniously explained as having diverged from the lineage of Loxodonta, indicating that Loxodonta has not been constrained to Africa. Our results demonstrate that the current picture of elephant evolution is in need of substantial revision. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 790 KW - genome sequence KW - woolly mammoth KW - Palaeoloxodon-antiquus KW - phylogenetic analysis KW - African elephants KW - DNA KW - Pleistocene KW - alignment KW - ancient KW - reveal Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-440139 SN - 1866-8372 IS - 790 ER - TY - GEN A1 - Krüger, Johanna A1 - Foerster, Verena Elisabeth A1 - Trauth, Martin H. A1 - Hofreiter, Michael A1 - Tiedemann, Ralph T1 - Exploring the Past Biosphere of Chew Bahir/Southern Ethiopia: Cross-Species Hybridization Capture of Ancient Sedimentary DNA from a Deep Drill Core T2 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe N2 - Eastern Africa has been a prime target for scientific drilling because it is rich in key paleoanthropological sites as well as in paleolakes, containing valuable paleoclimatic information on evolutionary time scales. The Hominin Sites and Paleolakes Drilling Project (HSPDP) explores these paleolakes with the aim of reconstructing environmental conditions around critical episodes of hominin evolution. Identification of biological taxa based on their sedimentary ancient DNA (sedaDNA) traces can contribute to understand past ecological and climatological conditions of the living environment of our ancestors. However, sedaDNA recovery from tropical environments is challenging because high temperatures, UV irradiation, and desiccation result in highly degraded DNA. Consequently, most of the DNA fragments in tropical sediments are too short for PCR amplification. We analyzed sedaDNA in the upper 70 m of the composite sediment core of the HSPDP drill site at Chew Bahir for eukaryotic remnants. We first tested shotgun high throughput sequencing which leads to metagenomes dominated by bacterial DNA of the deep biosphere, while only a small fraction was derived from eukaryotic, and thus probably ancient, DNA. Subsequently, we performed cross-species hybridization capture of sedaDNA to enrich ancient DNA (aDNA) from eukaryotic remnants for paleoenvironmental analysis, using established barcoding genes (cox1 and rbcL for animals and plants, respectively) from 199 species that may have had relatives in the past biosphere at Chew Bahir. Metagenomes yielded after hybridization capture are richer in reads with similarity to cox1 and rbcL in comparison to metagenomes without prior hybridization capture. Taxonomic assignments of the reads from these hybridization capture metagenomes also yielded larger fractions of the eukaryotic domain. For reads assigned to cox1, inferred wet periods were associated with high inferred relative abundances of putative limnic organisms (gastropods, green algae), while inferred dry periods showed increased relative abundances for insects. These findings indicate that cross-species hybridization capture can be an effective approach to enhance the information content of sedaDNA in order to explore biosphere changes associated with past environmental conditions, enabling such analyses even under tropical conditions. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 1244 KW - Chew Bahir KW - hybridization capture KW - ICDP KW - paleoclimate KW - past biosphere KW - sedaDNA KW - sediment core Y1 - 2022 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-550071 SN - 1866-8372 SP - 1 EP - 20 PB - Universitätsverlag Potsdam CY - Potsdam ER - TY - GEN A1 - Hartmann, Stefanie A1 - Preick, Michaela A1 - Abelt, Silke A1 - Scheffel, André A1 - Hofreiter, Michael T1 - Annotated genome sequences of the carnivorous plant Roridula gorgonias and a non-carnivorous relative, Clethra arborea T2 - Postprints der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe N2 - Objective Plant carnivory is distributed across the tree of life and has evolved at least six times independently, but sequenced and annotated nuclear genomes of carnivorous plants are currently lacking. We have sequenced and structurally annotated the nuclear genome of the carnivorous Roridula gorgonias and that of a non-carnivorous relative, Madeira’s lily-of-the-valley-tree, Clethra arborea, both within the Ericales. This data adds an important resource to study the evolutionary genetics of plant carnivory across angiosperm lineages and also for functional and systematic aspects of plants within the Ericales. Results Our assemblies have total lengths of 284 Mbp (R. gorgonias) and 511 Mbp (C. arborea) and show high BUSCO scores of 84.2% and 89.5%, respectively. We used their predicted genes together with publicly available data from other Ericales’ genomes and transcriptomes to assemble a phylogenomic data set for the inference of a species tree. However, groups of orthologs showed a marked absence of species represented by a transcriptome. We discuss possible reasons and caution against combining predicted genes from genome- and transriptome-based assemblies. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 1141 KW - Carnivorous plant KW - Roridula gorgonias KW - Clethra arborea KW - Genome assembly KW - Transcriptome assembly KW - Phylogenomics KW - Orthologous Matrix (OMA) Project Y1 - 2021 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-503752 SN - 1866-8372 ER - TY - JOUR A1 - Agne, Stefanie A1 - Preick, Michaela A1 - Straube, Nicolas A1 - Hofreiter, Michael T1 - Simultaneous Barcode Sequencing of Diverse Museum Collection Specimens Using a Mixed RNA Bait Set JF - Frontiers in Ecology and Evolution N2 - A growing number of publications presenting results from sequencing natural history collection specimens reflect the importance of DNA sequence information from such samples. Ancient DNA extraction and library preparation methods in combination with target gene capture are a way of unlocking archival DNA, including from formalin-fixed wet-collection material. Here we report on an experiment, in which we used an RNA bait set containing baits from a wide taxonomic range of species for DNA hybridisation capture of nuclear and mitochondrial targets for analysing natural history collection specimens. The bait set used consists of 2,492 mitochondrial and 530 nuclear RNA baits and comprises specific barcode loci of diverse animal groups including both invertebrates and vertebrates. The baits allowed to capture DNA sequence information of target barcode loci from 84% of the 37 samples tested, with nuclear markers being captured more frequently and consensus sequences of these being more complete compared to mitochondrial markers. Samples from dry material had a higher rate of success than wet-collection specimens, although target sequence information could be captured from 50% of formalin-fixed samples. Our study illustrates how efforts to obtain barcode sequence information from natural history collection specimens may be combined and are a way of implementing barcoding inventories of scientific collection material. KW - target capture KW - type specimens KW - molecular species identification KW - museum specimens KW - cross-species capture Y1 - 2022 U6 - https://doi.org/10.3389/fevo.2022.909846 SN - 2296-701X VL - 10 PB - Frontiers Media S.A. CY - Lausanne, Schweiz ER - TY - GEN A1 - Agne, Stefanie A1 - Preick, Michaela A1 - Straube, Nicolas A1 - Hofreiter, Michael T1 - Simultaneous Barcode Sequencing of Diverse Museum Collection Specimens Using a Mixed RNA Bait Set T2 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe N2 - A growing number of publications presenting results from sequencing natural history collection specimens reflect the importance of DNA sequence information from such samples. Ancient DNA extraction and library preparation methods in combination with target gene capture are a way of unlocking archival DNA, including from formalin-fixed wet-collection material. Here we report on an experiment, in which we used an RNA bait set containing baits from a wide taxonomic range of species for DNA hybridisation capture of nuclear and mitochondrial targets for analysing natural history collection specimens. The bait set used consists of 2,492 mitochondrial and 530 nuclear RNA baits and comprises specific barcode loci of diverse animal groups including both invertebrates and vertebrates. The baits allowed to capture DNA sequence information of target barcode loci from 84% of the 37 samples tested, with nuclear markers being captured more frequently and consensus sequences of these being more complete compared to mitochondrial markers. Samples from dry material had a higher rate of success than wet-collection specimens, although target sequence information could be captured from 50% of formalin-fixed samples. Our study illustrates how efforts to obtain barcode sequence information from natural history collection specimens may be combined and are a way of implementing barcoding inventories of scientific collection material. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 1293 KW - target capture KW - type specimens KW - molecular species identification KW - museum specimens KW - cross-species capture Y1 - 2023 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-574600 SN - 1866-8372 IS - 1293 ER - TY - JOUR A1 - Hilgers, Leon A1 - Hartmann, Stefanie A1 - Hofreiter, Michael A1 - von Rintelen, Thomas T1 - Novel Genes, Ancient Genes, and Gene Co-Option Contributed o the Genetic Basis of the Radula, a Molluscan Innovation JF - Molecular biology and evolution N2 - The radula is the central foraging organ and apomorphy of the Mollusca. However, in contrast to other innovations, including the mollusk shell, genetic underpinnings of radula formation remain virtually unknown. Here, we present the first radula formative tissue transcriptome using the viviparous freshwater snail Tylomelania sarasinorum and compare it to foot tissue and the shell-building mantle of the same species. We combine differential expression, functional enrichment, and phylostratigraphic analyses to identify both specific and shared genetic underpinnings of the three tissues as well as their dominant functions and evolutionary origins. Gene expression of radula formative tissue is very distinct, but nevertheless more similar to mantle than to foot. Generally, the genetic bases of both radula and shell formation were shaped by novel orchestration of preexisting genes and continuous evolution of novel genes. A significantly increased proportion of radula-specific genes originated since the origin of stem-mollusks, indicating that novel genes were especially important for radula evolution. Genes with radula-specific expression in our study are frequently also expressed during the formation of other lophotrochozoan hard structures, like chaetae (hes1, arx), spicules (gbx), and shells of mollusks (gbx, heph) and brachiopods (heph), suggesting gene co-option for hard structure formation. Finally, a Lophotrochozoa-specific chitin synthase with a myosin motor domain (CS-MD), which is expressed during mollusk and brachiopod shell formation, had radula-specific expression in our study. CS-MD potentially facilitated the construction of complex chitinous structures and points at the potential of molecular novelties to promote the evolution of different morphological innovations. KW - chitin synthase KW - novelty KW - radula KW - RNAseq KW - shell KW - Tylomelania sarasinorum Y1 - 2018 U6 - https://doi.org/10.1093/molbev/msy052 SN - 0737-4038 SN - 1537-1719 VL - 35 IS - 7 SP - 1638 EP - 1652 PB - Oxford Univ. Press CY - Oxford ER - TY - JOUR A1 - Hofreiter, Michael A1 - Hartmann, Stefanie T1 - Reconstructing protein-coding sequences from ancient DNA JF - Odorant binding and chemosensory proteins N2 - Obtaining information about functional details of proteins of extinct species is of critical importance for a better understanding of the real-life appearance, behavior and ecology of these lost entries in the book of life. In this chapter, we discuss the possibilities to retrieve the necessary DNA sequence information from paleogenomic data obtained from fossil specimens, which can then be used to express and subsequently analyze the protein of interest. We discuss the problems specific to ancient DNA, including mis-coding lesions, short read length and incomplete paleogenome assemblies. Finally, we discuss an alternative, but currently rarely used approach, direct PCR amplification, which is especially useful for comparatively short proteins. KW - re-sequencing KW - mapping KW - genome assembly KW - targeted assembly KW - SRAssembler KW - ancient DNA KW - reference sequence KW - paleogenomics Y1 - 2020 SN - 978-0-12-821157-1 U6 - https://doi.org/10.1016/bs.mie.2020.05.008 SN - 0076-6879 VL - 642 SP - 21 EP - 33 PB - Academic Press, an imprint of Elsevier CY - Cambridge, MA. ER - TY - GEN A1 - Xenikoudakis, Georgios A1 - Ahmed, Mayeesha A1 - Harris, Jacob Colt A1 - Wadleigh, Rachel A1 - Paijmans, Johanna L. A. A1 - Hartmann, Stefanie A1 - Barlow, Axel A1 - Lerner, Heather A1 - Hofreiter, Michael T1 - Ancient DNA reveals twenty million years of aquatic life in beavers T2 - Current biology : CB N2 - Xenikoudakis et al. report a partial mitochondrial genome of the extinct giant beaver Castoroides and estimate the origin of aquatic behavior in beavers to approximately 20 million years. This time estimate coincides with the extinction of terrestrial beavers and raises the question whether the two events had a common cause. Y1 - 2020 U6 - https://doi.org/10.1016/j.cub.2019.12.041 SN - 0960-9822 SN - 1879-0445 VL - 30 IS - 3 SP - R110 EP - R111 PB - Current Biology Ltd. CY - London ER - TY - GEN A1 - Paijmans, Johanna L. A. A1 - Barlow, Axel A1 - Förster, Daniel W. A1 - Henneberger, Kirstin A1 - Meyer, Matthias A1 - Nickel, Birgit A1 - Nagel, Doris A1 - Worsøe Havmøller, Rasmus A1 - Baryshnikov, Gennady F. A1 - Joger, Ulrich A1 - Rosendahl, Wilfried A1 - Hofreiter, Michael T1 - Historical biogeography of the leopard (Panthera pardus) and its extinct Eurasian populations T2 - Postprints der Universität Potsdam Mathematisch-Naturwissenschaftliche Reihe N2 - Background Resolving the historical biogeography of the leopard (Panthera pardus) is a complex issue, because patterns inferred from fossils and from molecular data lack congruence. Fossil evidence supports an African origin, and suggests that leopards were already present in Eurasia during the Early Pleistocene. Analysis of DNA sequences however, suggests a more recent, Middle Pleistocene shared ancestry of Asian and African leopards. These contrasting patterns led researchers to propose a two-stage hypothesis of leopard dispersal out of Africa: an initial Early Pleistocene colonisation of Asia and a subsequent replacement by a second colonisation wave during the Middle Pleistocene. The status of Late Pleistocene European leopards within this scenario is unclear: were these populations remnants of the first dispersal, or do the last surviving European leopards share more recent ancestry with their African counterparts? Results In this study, we generate and analyse mitogenome sequences from historical samples that span the entire modern leopard distribution, as well as from Late Pleistocene remains. We find a deep bifurcation between African and Eurasian mitochondrial lineages (~ 710 Ka), with the European ancient samples as sister to all Asian lineages (~ 483 Ka). The modern and historical mainland Asian lineages share a relatively recent common ancestor (~ 122 Ka), and we find one Javan sample nested within these. Conclusions The phylogenetic placement of the ancient European leopard as sister group to Asian leopards suggests that these populations originate from the same out-of-Africa dispersal which founded the Asian lineages. The coalescence time found for the mitochondrial lineages aligns well with the earliest undisputed fossils in Eurasia, and thus encourages a re-evaluation of the identification of the much older putative leopard fossils from the region. The relatively recent ancestry of all mainland Asian leopard lineages suggests that these populations underwent a severe population bottleneck during the Pleistocene. Finally, although only based on a single sample, the unexpected phylogenetic placement of the Javan leopard could be interpreted as evidence for exchange of mitochondrial lineages between Java and mainland Asia, calling for further investigation into the evolutionary history of this subspecies. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 505 KW - Ancient DNA KW - Hybridisation capture KW - Leopards KW - Mitochondrial genomes KW - Mitogenomes KW - mtDNA KW - Palaeogenetics KW - Panthera pardus Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-422555 SN - 1866-8372 IS - 505 ER - TY - GEN A1 - Hofreiter, Michael A1 - Paijmans, Johanna L. A. A1 - Goodchild, Helen A1 - Speller, Camilla F. A1 - Barlow, Axel A1 - Gonzalez-Fortes, Gloria M. A1 - Thomas, Jessica A. A1 - Ludwig, Arne A1 - Collins, Matthew J. T1 - The future of ancient DNA BT - technical advances and conceptual shifts T2 - Postprints der Universität Potsdam : Mathematisch Naturwissenschaftliche Reihe N2 - Technological innovations such as next generation sequencing and DNA hybridisation enrichment have resulted in multi-fold increases in both the quantity of ancient DNA sequence data and the time depth for DNA retrieval. To date, over 30 ancient genomes have been sequenced, moving from 0.7x coverage (mammoth) in 2008 to more than 50x coverage (Neanderthal) in 2014. Studies of rapid evolutionary changes, such as the evolution and spread of pathogens and the genetic responses of hosts, or the genetics of domestication and climatic adaptation, are developing swiftly and the importance of palaeogenomics for investigating evolutionary processes during the last million years is likely to increase considerably. However, these new datasets require new methods of data processing and analysis, as well as conceptual changes in interpreting the results. In this review we highlight important areas of future technical and conceptual progress and discuss research topics in the rapidly growing field of palaeogenomics. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 908 KW - ancient DNA KW - hybridisation capture KW - multi-locus data KW - next generation sequencing (NGS) KW - palaeogenomics KW - population genomics Y1 - 2020 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-438816 SN - 1866-8372 IS - 908 SP - 284 EP - 295 ER - TY - JOUR A1 - Paijmans, Johanna L. A. A1 - Barlow, Axel A1 - Förster, Daniel W. A1 - Henneberger, Kirstin A1 - Meyer, Matthias A1 - Nickel, Birgit A1 - Nagel, Doris A1 - Worsøe Havmøller, Rasmus A1 - Baryshnikov, Gennady F. A1 - Joger, Ulrich A1 - Rosendahl, Wilfried A1 - Hofreiter, Michael T1 - Historical biogeography of the leopard (Panthera pardus) and its extinct Eurasian populations JF - BMC Evolutionary Biology N2 - Background Resolving the historical biogeography of the leopard (Panthera pardus) is a complex issue, because patterns inferred from fossils and from molecular data lack congruence. Fossil evidence supports an African origin, and suggests that leopards were already present in Eurasia during the Early Pleistocene. Analysis of DNA sequences however, suggests a more recent, Middle Pleistocene shared ancestry of Asian and African leopards. These contrasting patterns led researchers to propose a two-stage hypothesis of leopard dispersal out of Africa: an initial Early Pleistocene colonisation of Asia and a subsequent replacement by a second colonisation wave during the Middle Pleistocene. The status of Late Pleistocene European leopards within this scenario is unclear: were these populations remnants of the first dispersal, or do the last surviving European leopards share more recent ancestry with their African counterparts? Results In this study, we generate and analyse mitogenome sequences from historical samples that span the entire modern leopard distribution, as well as from Late Pleistocene remains. We find a deep bifurcation between African and Eurasian mitochondrial lineages (~ 710 Ka), with the European ancient samples as sister to all Asian lineages (~ 483 Ka). The modern and historical mainland Asian lineages share a relatively recent common ancestor (~ 122 Ka), and we find one Javan sample nested within these. Conclusions The phylogenetic placement of the ancient European leopard as sister group to Asian leopards suggests that these populations originate from the same out-of-Africa dispersal which founded the Asian lineages. The coalescence time found for the mitochondrial lineages aligns well with the earliest undisputed fossils in Eurasia, and thus encourages a re-evaluation of the identification of the much older putative leopard fossils from the region. The relatively recent ancestry of all mainland Asian leopard lineages suggests that these populations underwent a severe population bottleneck during the Pleistocene. Finally, although only based on a single sample, the unexpected phylogenetic placement of the Javan leopard could be interpreted as evidence for exchange of mitochondrial lineages between Java and mainland Asia, calling for further investigation into the evolutionary history of this subspecies. KW - Ancient DNA KW - Hybridisation capture KW - Leopards KW - Mitochondrial genomes KW - Mitogenomes KW - mtDNA KW - Palaeogenetics KW - Panthera pardus Y1 - 2018 U6 - https://doi.org/10.1186/s12862-018-1268-0 SN - 1471-2148 VL - 18 IS - 156 PB - BioMed Central und Springer CY - London, Berlin und Heidelberg ER - TY - GEN A1 - Barlow, Axel A1 - Hartmann, Stefanie A1 - Gonzalez, Javier A1 - Hofreiter, Michael A1 - Paijmans, Johanna L. A. T1 - Consensify BT - a method for generating pseudohaploid genome sequences from palaeogenomic datasets with reduced error rates T2 - Postprints der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe N2 - A standard practise in palaeogenome analysis is the conversion of mapped short read data into pseudohaploid sequences, frequently by selecting a single high-quality nucleotide at random from the stack of mapped reads. This controls for biases due to differential sequencing coverage, but it does not control for differential rates and types of sequencing error, which are frequently large and variable in datasets obtained from ancient samples. These errors have the potential to distort phylogenetic and population clustering analyses, and to mislead tests of admixture using D statistics. We introduce Consensify, a method for generating pseudohaploid sequences, which controls for biases resulting from differential sequencing coverage while greatly reducing error rates. The error correction is derived directly from the data itself, without the requirement for additional genomic resources or simplifying assumptions such as contemporaneous sampling. For phylogenetic and population clustering analysis, we find that Consensify is less affected by artefacts than methods based on single read sampling. For D statistics, Consensify is more resistant to false positives and appears to be less affected by biases resulting from different laboratory protocols than other frequently used methods. Although Consensify is developed with palaeogenomic data in mind, it is applicable for any low to medium coverage short read datasets. We predict that Consensify will be a useful tool for future studies of palaeogenomes. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 1033 KW - palaeogenomics KW - ancient DNA KW - sequencing error KW - error reduction KW - D statistics KW - bioinformatics Y1 - 2020 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-472521 SN - 1866-8372 IS - 1033 ER - TY - JOUR A1 - González-Fortes, Gloria M. A1 - Kolbe, Ben A1 - Fernandes, Daniel A1 - Meleg, Ioana N. A1 - Garcia-Vazquez, Ana A1 - Pinto-Llona, Ana C. A1 - Constantin, Silviu A1 - de Torres, Trino J. A1 - Ortiz, Jose E. A1 - Frischauf, Christine A1 - Rabeder, Gernot A1 - Hofreiter, Michael A1 - Barlow, Axel T1 - Ancient DNA reveals differences in behaviour and sociality between brown bears and extinct cave bears JF - Molecular ecology N2 - Ancient DNA studies have revolutionized the study of extinct species and populations, providing insights on phylogeny, phylogeography, admixture and demographic history. However, inferences on behaviour and sociality have been far less frequent. Here, we investigate the complete mitochondrial genomes of extinct Late Pleistocene cave bears and middle Holocene brown bears that each inhabited multiple geographically proximate caves in northern Spain. In cave bears, we find that, although most caves were occupied simultaneously, each cave almost exclusively contains a unique lineage of closely related haplotypes. This remarkable pattern suggests extreme fidelity to their birth site in cave bears, best described as homing behaviour, and that cave bears formed stable maternal social groups at least for hibernation. In contrast, brown bears do not show any strong association of mitochondrial lineage and cave, suggesting that these two closely related species differed in aspects of their behaviour and sociality. This difference is likely to have contributed to cave bear extinction, which occurred at a time in which competition for caves between bears and humans was likely intense and the ability to rapidly colonize new hibernation sites would have been crucial for the survival of a species so dependent on caves for hibernation as cave bears. Our study demonstrates the potential of ancient DNA to uncover patterns of behaviour and sociality in ancient species and populations, even those that went extinct many tens of thousands of years ago. KW - ancient DNA KW - extinction KW - homing KW - sociality KW - Ursus arctos KW - Ursus spelaeus Y1 - 2016 U6 - https://doi.org/10.1111/mec.13800 SN - 0962-1083 SN - 1365-294X VL - 25 SP - 4907 EP - 4918 PB - Wiley-Blackwell CY - Hoboken ER - TY - JOUR A1 - Kehlmaier, Christian A1 - Barlow, Axel A1 - Hastings, Alexander K. A1 - Vamberger, Melita A1 - Paijmans, Johanna L. A. A1 - Steadman, David W. A1 - Albury, Nancy A. A1 - Franz, Richard A1 - Hofreiter, Michael A1 - Fritz, Uwe T1 - Tropical ancient DNA reveals relationships of the extinct bahamian giant tortoise Chelonoidis alburyorum JF - Proceedings of the Royal Society of London : Series B, Biological sciences N2 - Ancient DNA of extinct species from the Pleistocene and Holocene has provided valuable evolutionary insights. However, these are largely restricted to mammals and high latitudes because DNA preservation in warm climates is typically poor. In the tropics and subtropics, non-avian reptiles constitute a significant part of the fauna and little is known about the genetics of the many extinct reptiles from tropical islands. We have reconstructed the near-complete mitochondrial genome of an extinct giant tortoise from the Bahamas (Chelonoidis alburyorum) using an approximately 1000-year-old humerus from a water-filled sinkhole (blue hole) on Great Abaco Island. Phylogenetic and molecular clock analyses place this extinct species as closely related to Galapagos (C. niger complex) and Chaco tortoises (C. chilensis), and provide evidence for repeated overseas dispersal in this tortoise group. The ancestors of extant Chelonoidis species arrived in South America from Africa only after the opening of the Atlantic Ocean and dispersed from there to the Caribbean and the Galapagos Islands. Our results also suggest that the anoxic, thermally buffered environment of blue holes may enhance DNA preservation, and thus are opening a window for better understanding evolution and population history of extinct tropical species, which would likely still exist without human impact. KW - Bahamas KW - biogeography KW - extinction KW - palaeontology KW - phylogeny Y1 - 2017 U6 - https://doi.org/10.1098/rspb.2016.2235 SN - 0962-8452 SN - 1471-2954 VL - 284 PB - The Royal Society CY - London ER - TY - JOUR A1 - Hartmann, Stefanie A1 - Preick, Michaela A1 - Abelt, Silke A1 - Scheffel, André A1 - Hofreiter, Michael T1 - Annotated genome sequences of the carnivorous plant Roridula gorgonias and a non-carnivorous relative, Clethra arborea JF - BMC Research Notes N2 - Objective Plant carnivory is distributed across the tree of life and has evolved at least six times independently, but sequenced and annotated nuclear genomes of carnivorous plants are currently lacking. We have sequenced and structurally annotated the nuclear genome of the carnivorous Roridula gorgonias and that of a non-carnivorous relative, Madeira’s lily-of-the-valley-tree, Clethra arborea, both within the Ericales. This data adds an important resource to study the evolutionary genetics of plant carnivory across angiosperm lineages and also for functional and systematic aspects of plants within the Ericales. Results Our assemblies have total lengths of 284 Mbp (R. gorgonias) and 511 Mbp (C. arborea) and show high BUSCO scores of 84.2% and 89.5%, respectively. We used their predicted genes together with publicly available data from other Ericales’ genomes and transcriptomes to assemble a phylogenomic data set for the inference of a species tree. However, groups of orthologs showed a marked absence of species represented by a transcriptome. We discuss possible reasons and caution against combining predicted genes from genome- and transriptome-based assemblies. KW - Carnivorous plant KW - Roridula gorgonias KW - Clethra arborea KW - Genome assembly KW - Transcriptome assembly KW - Phylogenomics KW - Orthologous Matrix (OMA) Project Y1 - 2020 U6 - https://doi.org/10.1186/s13104-020-05254-4 SN - 1756-0500 VL - 13 PB - Biomed Central CY - London ER - TY - GEN A1 - Gamba, Cristina A1 - Jones, Eppie R. A1 - Teasdale, Matthew D. A1 - McLaughlin, Russell L. A1 - González-Fortes, Gloria M. A1 - Mattiangeli, Valeria A1 - Domboróczki, László A1 - Kővári, Ivett A1 - Pap, Ildikó A1 - Anders, Alexandra A1 - Whittle, Alasdair A1 - Dani, János A1 - Raczky, Pál A1 - Higham, Thomas F. G. A1 - Hofreiter, Michael A1 - Bradley, Daniel G. A1 - Pinhasi, Ron T1 - Genome flux and stasis in a five millennium transect of European prehistory T2 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe N2 - The Great Hungarian Plain was a crossroads of cultural transformations that have shaped European prehistory. Here we analyse a 5,000-year transect of human genomes, sampled from petrous bones giving consistently excellent endogenous DNA yields, from 13 Hungarian Neolithic, Copper, Bronze and Iron Age burials including two to high (similar to 22x) and seven to similar to 1x coverage, to investigate the impact of these on Europe's genetic landscape. These data suggest genomic shifts with the advent of the Neolithic, Bronze and Iron Ages, with interleaved periods of genome stability. The earliest Neolithic context genome shows a European hunter-gatherer genetic signature and a restricted ancestral population size, suggesting direct contact between cultures after the arrival of the first farmers into Europe. The latest, Iron Age, sample reveals an eastern genomic influence concordant with introduced Steppe burial rites. We observe transition towards lighter pigmentation and surprisingly, no Neolithic presence of lactase persistence. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 1332 KW - ancient DNA KW - lactase-persistence KW - positive selection KW - patterns KW - sequence KW - farmers KW - pigmentation KW - homozygosity KW - ancestry KW - skin Y1 - 2014 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-437999 SN - 1866-8372 VL - 5 IS - 1332 ER - TY - GEN A1 - Jones, Eppie R. A1 - González-Fortes, Gloria M. A1 - Connell, Sarah A1 - Siska, Veronika A1 - Eriksson, Anders A1 - Martiniano, Rui A1 - McLaughlin, Russell L. A1 - Llorente, Marcos Gallego A1 - Cassidy, Lara M. A1 - Gamba, Cristina A1 - Meshveliani, Tengiz A1 - Bar-Yosef, Ofer A1 - Müller, Werner A1 - Belfer-Cohen, Anna A1 - Matskevich, Zinovi A1 - Jakeli, Nino A1 - Higham, Thomas F. G. A1 - Currat, Mathias A1 - Lordkipanidze, David A1 - Hofreiter, Michael A1 - Manica, Andrea A1 - Pinhasi, Ron A1 - Bradley, Daniel G. T1 - Upper Palaeolithic genomes reveal deep roots of modern Eurasians T2 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe N2 - We extend the scope of European palaeogenomics by sequencing the genomes of Late Upper Palaeolithic (13,300 years old, 1.4-fold coverage) and Mesolithic (9,700 years old, 15.4-fold) males from western Georgia in the Caucasus and a Late Upper Palaeolithic (13,700 years old, 9.5-fold) male from Switzerland. While we detect Late Palaeolithic–Mesolithic genomic continuity in both regions, we find that Caucasus hunter-gatherers (CHG) belong to a distinct ancient clade that split from western hunter-gatherers ∼45 kya, shortly after the expansion of anatomically modern humans into Europe and from the ancestors of Neolithic farmers ∼25 kya, around the Last Glacial Maximum. CHG genomes significantly contributed to the Yamnaya steppe herders who migrated into Europe ∼3,000 BC, supporting a formative Caucasus influence on this important Early Bronze age culture. CHG left their imprint on modern populations from the Caucasus and also central and south Asia possibly marking the arrival of Indo-Aryan languages. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 1334 Y1 - 2015 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-439317 SN - 1866-8372 IS - 1334 ER - TY - JOUR A1 - Jones, Eppie R. A1 - González-Fortes, Gloria M. A1 - Connell, Sarah A1 - Siska, Veronika A1 - Eriksson, Anders A1 - Martiniano, Rui A1 - McLaughlin, Russell L. A1 - Llorente, Marcos Gallego A1 - Cassidy, Lara M. A1 - Gamba, Cristina A1 - Meshveliani, Tengiz A1 - Bar-Yosef, Ofer A1 - Mueller, Werner A1 - Belfer-Cohen, Anna A1 - Matskevich, Zinovi A1 - Jakeli, Nino A1 - Higham, Thomas F. G. A1 - Currat, Mathias A1 - Lordkipanidze, David A1 - Hofreiter, Michael A1 - Manica, Andrea A1 - Pinhasi, Ron A1 - Bradley, Daniel G. T1 - Upper Palaeolithic genomes reveal deep roots of modern Eurasians JF - Nature Communications N2 - We extend the scope of European palaeogenomics by sequencing the genomes of Late Upper Palaeolithic (13,300 years old, 1.4-fold coverage) and Mesolithic (9,700 years old, 15.4-fold) males from western Georgia in the Caucasus and a Late Upper Palaeolithic (13,700 years old, 9.5-fold) male from Switzerland. While we detect Late Palaeolithic-Mesolithic genomic continuity in both regions, we find that Caucasus hunter-gatherers (CHG) belong to a distinct ancient clade that split from western hunter-gatherers similar to 45 kya, shortly after the expansion of anatomically modern humans into Europe and from the ancestors of Neolithic farmers similar to 25 kya, around the Last Glacial Maximum. CHG genomes significantly contributed to the Yamnaya steppe herders who migrated into Europe similar to 3,000 BC, supporting a formative Caucasus influence on this important Early Bronze age culture. CHG left their imprint on modern populations from the Caucasus and also central and south Asia possibly marking the arrival of Indo-Aryan languages. Y1 - 2015 U6 - https://doi.org/10.1038/ncomms9912 SN - 2041-1723 VL - 6 PB - Nature Publishing Group CY - London ER - TY - JOUR A1 - Barlow, Axel A1 - Hartmann, Stefanie A1 - Gonzalez, Javier A1 - Hofreiter, Michael A1 - Paijmans, Johanna L. A. T1 - Consensify BT - a method for generating pseudohaploid genome sequences from palaeogenomic datasets with reduced error rates JF - Genes / Molecular Diversity Preservation International N2 - A standard practise in palaeogenome analysis is the conversion of mapped short read data into pseudohaploid sequences, frequently by selecting a single high-quality nucleotide at random from the stack of mapped reads. This controls for biases due to differential sequencing coverage, but it does not control for differential rates and types of sequencing error, which are frequently large and variable in datasets obtained from ancient samples. These errors have the potential to distort phylogenetic and population clustering analyses, and to mislead tests of admixture using D statistics. We introduce Consensify, a method for generating pseudohaploid sequences, which controls for biases resulting from differential sequencing coverage while greatly reducing error rates. The error correction is derived directly from the data itself, without the requirement for additional genomic resources or simplifying assumptions such as contemporaneous sampling. For phylogenetic and population clustering analysis, we find that Consensify is less affected by artefacts than methods based on single read sampling. For D statistics, Consensify is more resistant to false positives and appears to be less affected by biases resulting from different laboratory protocols than other frequently used methods. Although Consensify is developed with palaeogenomic data in mind, it is applicable for any low to medium coverage short read datasets. We predict that Consensify will be a useful tool for future studies of palaeogenomes. KW - palaeogenomics KW - ancient DNA KW - sequencing error KW - error reduction KW - D statistics KW - bioinformatics Y1 - 2020 U6 - https://doi.org/10.3390/genes11010050 SN - 2073-4425 VL - 11 IS - 1 PB - MDPI CY - Basel ER - TY - JOUR A1 - Springer, Mark S. A1 - Signore, Anthony V. A1 - Paijmans, Johanna L. A. A1 - Velez-Juarbe, Jorge A1 - Domning, Daryl P. A1 - Bauer, Cameron E. A1 - He, Kai A1 - Crerar, Lorelei A1 - Campos, Paula F. A1 - Murphy, William J. A1 - Meredith, Robert W. A1 - Gatesy, John A1 - Willerslev, Eske A1 - MacPhee, Ross D. E. A1 - Hofreiter, Michael A1 - Campbell, Kevin L. T1 - Interordinal gene capture, the phylogenetic position of Steller's sea cow based on molecular and morphological data, and the macroevolutionary history of Sirenia JF - Molecular phylogenetics and evolution N2 - The recently extinct (ca. 1768) Steller's sea cow (Hydrodamalis gigas) was a large, edentulous North Pacific sirenian. The phylogenetic affinities of this taxon to other members of this clade, living and extinct, are uncertain based on previous morphological and molecular studies. We employed hybridization capture methods and second generation sequencing technology to obtain >30 kb of exon sequences from 26 nuclear genes for both H. gigas and Dugong dugon. We also obtained complete coding sequences for the tooth-related enamelin (ENAM) gene. Hybridization probes designed using dugong and manatee sequences were both highly effective in retrieving sequences from H. gigas (mean = 98.8% coverage), as were more divergent probes for regions of ENAM (99.0% coverage) that were designed exclusively from a proboscidean (African elephant) and a hyracoid (Cape hyrax). New sequences were combined with available sequences for representatives of all other afrotherian orders. We also expanded a previously published morphological matrix for living and fossil Sirenia by adding both new taxa and nine new postcranial characters. Maximum likelihood and parsimony analyses of the molecular data provide robust support for an association of H. gigas and D. dugon to the exclusion of living trichechids (manatees). Parsimony analyses of the morphological data also support the inclusion of H. gigas in Dugongidae with D. dugon and fossil dugongids. Timetree analyses based on calibration density approaches with hard- and soft-bounded constraints suggest that H. gigas and D. dugon diverged in the Oligocene and that crown sirenians last shared a common ancestor in the Eocene. The coding sequence for the ENAM gene in H. gigas does not contain frameshift mutations or stop codons, but there is a transversion mutation (AG to CG) in the acceptor splice site of intron 2. This disruption in the edentulous Steller's sea cow is consistent with previous studies that have documented inactivating mutations in tooth-specific loci of a variety of edentulous and enamelless vertebrates including birds, turtles, aardvarks, pangolins, xenarthrans, and baleen whales. Further, branch-site dN/dS analyses provide evidence for positive selection in ENAM on the stem dugongid branch where extensive tooth reduction occurred, followed by neutral evolution on the Hydrodamalis branch. Finally, we present a synthetic evolutionary tree for living and fossil sirenians showing several key innovations in the history of this clade including character state changes that parallel those that occurred in the evolutionary history of cetaceans. (C) 2015 Elsevier Inc. All rights reserved. Y1 - 2015 U6 - https://doi.org/10.1016/j.ympev.2015.05.022 SN - 1055-7903 SN - 1095-9513 VL - 91 SP - 178 EP - 193 PB - Elsevier CY - San Diego ER - TY - JOUR A1 - Hofreiter, Michael A1 - Paijmans, Johanna L. A. A1 - Goodchild, Helen A1 - Speller, Camilla F. A1 - Barlow, Axel A1 - González-Fortes, Gloria M. A1 - Thomas, Jessica A. A1 - Ludwig, Arne A1 - Collins, Matthew J. T1 - The future of ancient DNA: Technical advances and conceptual shifts JF - Bioessays : ideas that push the boundaries N2 - Technological innovations such as next generation sequencing and DNA hybridisation enrichment have resulted in multi-fold increases in both the quantity of ancient DNA sequence data and the time depth for DNA retrieval. To date, over 30 ancient genomes have been sequenced, moving from 0.7x coverage (mammoth) in 2008 to more than 50x coverage (Neanderthal) in 2014. Studies of rapid evolutionary changes, such as the evolution and spread of pathogens and the genetic responses of hosts, or the genetics of domestication and climatic adaptation, are developing swiftly and the importance of palaeogenomics for investigating evolutionary processes during the last million years is likely to increase considerably. However, these new datasets require new methods of data processing and analysis, as well as conceptual changes in interpreting the results. In this review we highlight important areas of future technical and conceptual progress and discuss research topics in the rapidly growing field of palaeogenomics. KW - ancient DNA KW - hybridisation capture KW - multi-locus data KW - next generation sequencing (NGS) KW - palaeogenomics KW - population genomics Y1 - 2015 U6 - https://doi.org/10.1002/bies.201400160 SN - 0265-9247 SN - 1521-1878 VL - 37 IS - 3 SP - 284 EP - 293 PB - Wiley-Blackwell CY - Hoboken ER - TY - JOUR A1 - Zhang, Hucai A1 - Paijmans, Johanna L. A. A1 - Chang, Fengqin A1 - Wu, Xiaohong A1 - Chen, Guangjie A1 - Lei, Chuzhao A1 - Yang, Xiujuan A1 - Wei, Zhenyi A1 - Bradley, Daniel G. A1 - Orlando, Ludovic A1 - O'Connor, Terry A1 - Hofreiter, Michael T1 - Morphological and genetic evidence for early Holocene cattle management in northeastern China JF - Nature Communications N2 - The domestication of cattle is generally accepted to have taken place in two independent centres: around 10,500 years ago in the Near East, giving rise to modern taurine cattle, and two millennia later in southern Asia, giving rise to zebu cattle. Here we provide firmly dated morphological and genetic evidence for early Holocene management of taurine cattle in northeastern China. We describe conjoining mandibles from this region that show evidence of oral stereotypy, dated to the early Holocene by two independent C-14 dates. Using Illumina high-throughput sequencing coupled with DNA hybridization capture, we characterize 15,406 bp of the mitogenome with on average 16.7-fold coverage. Phylogenetic analyses reveal a hitherto unknown mitochondrial haplogroup that falls outside the known taurine diversity. Our data suggest that the first attempts to manage cattle in northern China predate the introduction of domestic cattle that gave rise to the current stock by several thousand years. Y1 - 2013 U6 - https://doi.org/10.1038/ncomms3755 SN - 2041-1723 VL - 4 IS - 6 PB - Nature Publ. Group CY - London ER - TY - JOUR A1 - Signore, Anthony V. A1 - Paijmans, Johanna L. A. A1 - Hofreiter, Michael A1 - Fago, Angela A1 - Weber, Roy E. A1 - Springer, Mark S. A1 - Campbell, Kevin L. T1 - Emergence of a chimeric globin pseudogene and increased Hemoglobin Oxygen Affinity Underlie the evolution of aquatic specializations in Sirenia JF - Molecular biology and evolution N2 - As limits on O2 availability during submergence impose severe constraints on aerobic respiration, the oxygen binding globin proteins of marine mammals are expected to have evolved under strong evolutionary pressures during their land-to-sea transition. Here, we address this question for the order Sirenia by retrieving, annotating, and performing detailed selection analyses on the globin repertoire of the extinct Steller’s sea cow (Hydrodamalis gigas), dugong (Dugong dugon), and Florida manatee (Trichechus manatus latirostris) in relation to their closest living terrestrial relatives (elephants and hyraxes). These analyses indicate most loci experienced elevated nucleotide substitution rates during their transition to a fully aquatic lifestyle. While most of these genes evolved under neutrality or strong purifying selection, the rate of nonsynonymous/synonymous replacements increased in two genes (Hbz-T1 and Hba-T1) that encode the α-type chains of hemoglobin (Hb) during each stage of life. Notably, the relaxed evolution of Hba-T1 is temporally coupled with the emergence of a chimeric pseudogene (Hba-T2/Hbq-ps) that contributed to the tandemly linked Hba-T1 of stem sirenians via interparalog gene conversion. Functional tests on recombinant Hb proteins from extant and ancestral sirenians further revealed that the molecular remodeling of Hba-T1 coincided with increased Hb–O2 affinity in early sirenians. Available evidence suggests that this trait evolved to maximize O2 extraction from finite lung stores and suppress tissue O2 offloading, thereby facilitating the low metabolic intensities of extant sirenians. In contrast, the derived reduction in Hb–O2 affinity in (sub)Arctic Steller’s sea cows is consistent with fueling increased thermogenesis by these once colossal marine herbivores. KW - ancient DNA KW - aquatic adaptation KW - gene conversion KW - hemoglobin KW - oxygen affinity KW - molecular evolution KW - myoglobin KW - neuroglobin KW - cytoglobin KW - pseudogene Y1 - 2019 U6 - https://doi.org/10.1093/molbev/msz044 SN - 0737-4038 SN - 1537-1719 VL - 36 IS - 6 SP - 1134 EP - 1147 PB - Oxford Univ. Press CY - Oxford ER - TY - JOUR A1 - Gonzalez-Fortes, Gloria M. A1 - Tassi, F. A1 - Trucchi, E. A1 - Henneberger, K. A1 - Paijmans, Johanna L. A. A1 - Diez-del-Molino, D. A1 - Schroeder, H. A1 - Susca, R. R. A1 - Barroso-Ruiz, C. A1 - Bermudez, F. J. A1 - Barroso-Medina, C. A1 - Bettencourt, A. M. S. A1 - Sampaio, H. A. A1 - Salas, A. A1 - de Lombera-Hermida, A. A1 - Fabregas Valcarce, Ramón A1 - Vaquero, M. A1 - Alonso, S. A1 - Lozano, Marina A1 - Rodriguez-Alvarez, Xose Pedro A1 - Fernandez-Rodriguez, C. A1 - Manica, Andrea A1 - Hofreiter, Michael A1 - Barbujani, Guido T1 - A western route of prehistoric human migration from Africa into the Iberian Peninsula JF - Proceedings of the Royal Society of London : B, Biological sciences N2 - Being at the western fringe of Europe, Iberia had a peculiar prehistory and a complex pattern of Neolithization. A few studies, all based on modern populations, reported the presence of DNA of likely African origin in this region, generally concluding it was the result of recent gene flow, probably during the Islamic period. Here, we provide evidence of much older gene flow from Africa to Iberia by sequencing whole genomes from four human remains from northern Portugal and southern Spain dated around 4000 years BP (from the Middle Neolithic to the Bronze Age). We found one of them to carry an unequivocal sub-Saharan mitogenome of most probably West or West-Central African origin, to our knowledge never reported before in prehistoric remains outside Africa. Our analyses of ancient nuclear genomes show small but significant levels of sub-Saharan African affinity in several ancient Iberian samples, which indicates that what we detected was not an occasional individual phenomenon, but an admixture event recognizable at the population level. We interpret this result as evidence of an early migration process from Africa into the Iberian Peninsula through a western route, possibly across the Strait of Gibraltar. KW - palaeogenome KW - Africa KW - Iberia KW - mitochondrial DNA KW - gene flow KW - admixture Y1 - 2019 U6 - https://doi.org/10.1098/rspb.2018.2288 SN - 0962-8452 SN - 1471-2954 VL - 286 IS - 1895 PB - Royal Society CY - London ER - TY - JOUR A1 - Yuan, Jun-Xia A1 - Hou, Xin-Dong A1 - Barlow, Axel A1 - Preick, Michaela A1 - Taron, Ulrike H. A1 - Alberti, Federica A1 - Basler, Nikolas A1 - Deng, Tao A1 - Lai, Xu-Long A1 - Hofreiter, Michael A1 - Sheng, Gui-Lian T1 - Molecular identification of late and terminal Pleistocene Equus ovodovi from northeastern China JF - PLOS ONE N2 - The extant diversity of horses (family Equidae) represents a small fraction of that occurring over their evolutionary history. One such lost lineage is the subgenus Sussemionus, which is thought to have become extinct during the Middle Pleistocene. However, recent molecular studies and morphological analysis have revealed that one of their representatives, E. ovodovi, did exist in Siberia during the Late Pleistocene. Fossil materials of E. ovodovi have thus far only been found in Russia. In this study, we extracted DNA from three equid fossil specimens excavated from northeastern China dated at 12,770-12,596, 29,525-28,887 and 40,201-38,848 cal. yBP, respectively, and retrieved three near-complete mitochondrial genomes from the specimens. Phylogenetic analyses cluster the Chinese haplotypes together with previously published Russian E. ovodovi, strongly supporting the assignment of these samples to this taxon. The molecular identification of E. ovodovi in northeastern China extends the known geographical range of this fossil species by several thousand kilometers to the east. The estimated coalescence time of all E. ovodovi haplotypes is approximately 199 Kya, with the Chinese haplotypes coalescing approximately 130 Kya. With a radiocarbon age of 12,770-12,596 cal. yBP, the youngest sample in this study represents the first E. ovodovi sample dating to the terminal Pleistocene, moving the extinction date of this species forwards considerably compared to previously documented fossils. Overall, comparison of our three mitochondrial genomes with the two published ones suggests a genetic diversity similar to several extant species of the genus Equus. Y1 - 2019 U6 - https://doi.org/10.1371/journal.pone.0216883 SN - 1932-6203 VL - 14 IS - 5 PB - PLoS CY - San Fransisco ER - TY - GEN A1 - Barlow, Axel A1 - Sheng, Gui-Lian A1 - Lai, Xu-Long A1 - Hofreiter, Michael A1 - Paijmans, Johanna L. A. T1 - Once lost, twice found: Combined analysis of ancient giant panda sequences characterises extinct clade T2 - Journal of biogeography Y1 - 2018 U6 - https://doi.org/10.1111/jbi.13486 SN - 0305-0270 SN - 1365-2699 VL - 46 IS - 1 SP - 251 EP - 253 PB - Wiley CY - Hoboken ER - TY - JOUR A1 - Alberti, Federica A1 - Gonzalez, Javier A1 - Paijmans, Johanna L. A. A1 - Basler, Nikolas A1 - Preick, Michaela A1 - Henneberger, Kirstin A1 - Trinks, Alexandra A1 - Rabeder, Gernot A1 - Conard, Nicholas J. A1 - Muenzel, Susanne C. A1 - Joger, Ulrich A1 - Fritsch, Guido A1 - Hildebrandt, Thomas A1 - Hofreiter, Michael A1 - Barlow, Axel T1 - Optimized DNA sampling of ancient bones using Computed Tomography scans JF - Molecular ecology resources N2 - The prevalence of contaminant microbial DNA in ancient bone samples represents the principal limiting factor for palaeogenomic studies, as it may comprise more than 99% of DNA molecules obtained. Efforts to exclude or reduce this contaminant fraction have been numerous but also variable in their success. Here, we present a simple but highly effective method to increase the relative proportion of endogenous molecules obtained from ancient bones. Using computed tomography (CT) scanning, we identify the densest region of a bone as optimal for sampling. This approach accurately identifies the densest internal regions of petrous bones, which are known to be a source of high-purity ancient DNA. For ancient long bones, CT scans reveal a high-density outermost layer, which has been routinely removed and discarded prior to DNA extraction. For almost all long bones investigated, we find that targeted sampling of this outermost layer provides an increase in endogenous DNA content over that obtained from softer, trabecular bone. This targeted sampling can produce as much as 50-fold increase in the proportion of endogenous DNA, providing a directly proportional reduction in sequencing costs for shotgun sequencing experiments. The observed increases in endogenous DNA proportion are not associated with any reduction in absolute endogenous molecule recovery. Although sampling the outermost layer can result in higher levels of human contamination, some bones were found to have more contamination associated with the internal bone structures. Our method is highly consistent, reproducible and applicable across a wide range of bone types, ages and species. We predict that this discovery will greatly extend the potential to study ancient populations and species in the genomics era. KW - ancient DNA KW - computer tomography KW - palaeogenomics KW - paleogenetics KW - petrous bone Y1 - 2018 U6 - https://doi.org/10.1111/1755-0998.12911 SN - 1755-098X SN - 1755-0998 VL - 18 IS - 6 SP - 1196 EP - 1208 PB - Wiley CY - Hoboken ER - TY - JOUR A1 - Barlow, Axel A1 - Cahill, James A. A1 - Hartmann, Stefanie A1 - Theunert, Christoph A1 - Xenikoudakis, Georgios A1 - Gonzalez-Fortes, Gloria M. A1 - Paijmans, Johanna L. A. A1 - Rabeder, Gernot A1 - Frischauf, Christine A1 - Garcia-Vazquez, Ana A1 - Murtskhvaladze, Marine A1 - Saarma, Urmas A1 - Anijalg, Peeter A1 - Skrbinsek, Tomaz A1 - Bertorelle, Giorgio A1 - Gasparian, Boris A1 - Bar-Oz, Guy A1 - Pinhasi, Ron A1 - Slatkin, Montgomery A1 - Dalen, Love A1 - Shapiro, Beth A1 - Hofreiter, Michael T1 - Partial genomic survival of cave bears in living brown bears JF - Nature Ecology & Evolution N2 - Although many large mammal species went extinct at the end of the Pleistocene epoch, their DNA may persist due to past episodes of interspecies admixture. However, direct empirical evidence of the persistence of ancient alleles remains scarce. Here, we present multifold coverage genomic data from four Late Pleistocene cave bears (Ursus spelaeus complex) and show that cave bears hybridized with brown bears (Ursus arctos) during the Pleistocene. We develop an approach to assess both the directionality and relative timing of gene flow. We find that segments of cave bear DNA still persist in the genomes of living brown bears, with cave bears contributing 0.9 to 2.4% of the genomes of all brown bears investigated. Our results show that even though extinction is typically considered as absolute, following admixture, fragments of the gene pool of extinct species can survive for tens of thousands of years in the genomes of extant recipient species. Y1 - 2018 U6 - https://doi.org/10.1038/s41559-018-0654-8 SN - 2397-334X VL - 2 IS - 10 SP - 1563 EP - 1570 PB - Nature Publ. Group CY - London ER - TY - GEN A1 - Xiang, Hai A1 - Hofreiter, Michael A1 - Zhao, Xingbo T1 - Reply to Peng et al.: Archaeological contexts should not be ignored for early chicken domestication T2 - Proceedings of the National Academy of Sciences of the United States of America Y1 - 2015 U6 - https://doi.org/10.1073/pnas.1502207112 SN - 0027-8424 VL - 112 IS - 16 SP - E1972 EP - E1973 PB - National Acad. of Sciences CY - Washington ER - TY - JOUR A1 - Rainford, James L. A1 - Hofreiter, Michael A1 - Nicholson, David B. A1 - Mayhew, Peter J. T1 - Phylogenetic distribution of extant richness suggests metamorphosis is a key innovation driving diversification in insects JF - PLoS one N2 - Insects and their six-legged relatives (Hexapoda) comprise more than half of all described species and dominate terrestrial and freshwater ecosystems. Understanding the macroevolutionary processes generating this richness requires a historical perspective, but the fossil record of hexapods is patchy and incomplete. Dated molecular phylogenies provide an alternative perspective on divergence times and have been combined with birth-death models to infer patterns of diversification across a range of taxonomic groups. Here we generate a dated phylogeny of hexapod families, based on previously published sequence data and literature derived constraints, in order to identify the broad pattern of macroevolutionary changes responsible for the composition of the extant hexapod fauna. The most prominent increase in diversification identified is associated with the origin of complete metamorphosis, confirming this as a key innovation in promoting insect diversity. Subsequent reductions are recovered for several groups previously identified as having a higher fossil diversity during the Mesozoic. In addition, a number of recently derived taxa are found to have radiated following the development of flowering plant (angiosperm) floras during the mid-Cretaceous. These results reveal that the composition of the modern hexapod fauna is a product of a key developmental innovation, combined with multiple and varied evolutionary responses to environmental changes from the mid Cretaceous floral transition onward. Y1 - 2014 U6 - https://doi.org/10.1371/journal.pone.0109085 SN - 1932-6203 VL - 9 IS - 10 PB - PLoS CY - San Fransisco ER - TY - JOUR A1 - Shapiro, B. A1 - Hofreiter, Michael T1 - A paleogenomic perspective on evolution and gene function: new insights from ancient DNA JF - Science N2 - The publication of partial and complete paleogenomes within the last few years has reinvigorated research in ancient DNA. No longer limited to short fragments of mitochondrial DNA, inference of evolutionary processes through time can now be investigated from genome-wide data sampled as far back as 700,000 years. Tremendous insights have been made, in particular regarding the hominin lineage. With rare exception, however, a paleogenomic perspective has been mired by the quality and quantity of recoverable DNA. Though conceptually simple, extracting ancient DNA remains challenging, and sequencing ancient genomes to high coverage remains prohibitively expensive for most laboratories. Still, with improvements in DNA isolation and declining sequencing costs, the taxonomic and geographic purview of paleogenomics is expanding at a rapid pace. With improved capacity to screen large numbers of samples for those with high proportions of endogenous ancient DNA, paleogenomics is poised to become a key technology to better understand recent evolutionary events. Y1 - 2014 U6 - https://doi.org/10.1126/science.1236573 SN - 0036-8075 SN - 1095-9203 VL - 343 IS - 6169 PB - American Assoc. for the Advancement of Science CY - Washington ER - TY - GEN A1 - Xiang, Hai A1 - Gao, Jianqiang A1 - Yu, Baoquan A1 - Hofreiter, Michael A1 - Zhao, Xingbo T1 - Reply to Peters et al.: Further discussions confirm early Holocene chicken domestication in northern China T2 - Proceedings of the National Academy of Sciences of the United States of America Y1 - 2015 U6 - https://doi.org/10.1073/pnas.1503956112 SN - 0027-8424 VL - 112 IS - 19 SP - E2416 EP - E2416 PB - National Acad. of Sciences CY - Washington ER - TY - JOUR A1 - Campbell, Kevin L. A1 - Hofreiter, Michael T1 - Resurrecting phenotypes from ancient DNA sequences: promises and perspectives JF - Canadian journal of zoology = Revue canadienne de zoologie N2 - Anatomical changes in extinct mammalian lineages over evolutionary time, such as the loss of fingers and teeth and the rapid increase in body size that accompanied the late Miocene dispersal of the progenitors of Steller's sea cows (Hydrodamalis gigas (Zimmermann, 1780)) into North Pacific waters and the convergent development of a thick pelage and accompanying reductions in ear and tail surface area of woolly mammoths (Mammuthus primigenius (Blumenbach, 1799)) and woolly rhinoceros (Coelodonta antiquitatis (Blumenbach, 1799)), are prime examples of adaptive evolution underlying the exploitation of new habitats. It is likely, however, that biochemical specializations adopted during these evolutionary transitions were of similar or even greater biological importance. As these "living" processes do not fossilize, direct information regarding the physiological attributes of extinct species has largely remained beyond the range of scientific inquiry. However, the ability to retrieve genomic sequences from ancient DNA samples, combined with ectopic expression systems, now permit the evolutionary origins and structural and functional properties of authentic prehistoric proteins to be examined in great detail. Exponential technical advances in ancient DNA retrieval, enrichment, and sequencing will soon permit targeted generation of complete genomes from hundreds of extinct species across the last one million years that, in combination with emerging in vitro expression, genome engineering, and cell differentiation techniques, promises to herald an exciting new trajectory of evolutionary research at the interface of biochemistry, genomics, palaeontology, and cell biology. KW - paleophysiology KW - ancient DNA KW - extinct species KW - adaptation KW - protein structure Y1 - 2015 U6 - https://doi.org/10.1139/cjz-2014-0337 SN - 0008-4301 SN - 1480-3283 VL - 93 IS - 9 SP - 701 EP - 710 PB - NRC Research Press CY - Ottawa ER - TY - JOUR A1 - Horn, Susanne A1 - Prost, Stefan A1 - Stiller, Mathias A1 - Makowiecki, Daniel A1 - Kuznetsova, Tatiana A1 - Benecke, Norbert A1 - Pucher, Erich A1 - Hufthammer, Anne K. A1 - Schouwenburg, Charles A1 - Shapiro, Beth A1 - Hofreiter, Michael T1 - Ancient mitochondrial DNA and the genetic history of Eurasian beaver (Castor fiber) in Europe JF - Molecular ecology N2 - After centuries of human hunting, the Eurasian beaver Castor fiber had disappeared from most of its original range by the end of the 19th century. The surviving relict populations are characterized by both low genetic diversity and strong phylogeographical structure. However, it remains unclear whether these attributes are the result of a human-induced, late Holocene bottleneck or already existed prior to this reduction in range. To investigate genetic diversity in Eurasian beaver populations during the Holocene, we obtained mitochondrial control region DNA sequences from 48 ancient beaver samples and added 152 modern sequences from GenBank. Phylogeographical analyses of the data indicate a differentiation of European beaver populations into three mitochondrial clades. The two main clades occur in western and eastern Europe, respectively, with an early Holocene contact zone in eastern Europe near a present-day contact zone. A divergent and previously unknown clade of beavers from the Danube Basin survived until at least 6000years ago, but went extinct during the transition to modern times. Finally, we identify a recent decline in effective population size of Eurasian beavers, with a stronger bottleneck signal in the western than in the eastern clade. Our results suggest that the low genetic diversity and the strong phylogeographical structure in recent beavers are artefacts of human hunting-associated population reductions. While beaver populations have been growing rapidly since the late 19th century, genetic diversity within modern beaver populations remains considerably reduced compared to what was present prior to the period of human hunting and habitat reduction. KW - Conservation Biology KW - Phylogeography KW - Conservation Genetics KW - Population Genetics - Empirical Y1 - 2014 U6 - https://doi.org/10.1111/mec.12691 SN - 0962-1083 SN - 1365-294X VL - 23 IS - 7 SP - 1717 EP - 1729 PB - Wiley-Blackwell CY - Hoboken ER - TY - JOUR A1 - Li, Chenhong A1 - Corrigan, Shannon A1 - Yang, Lei A1 - Straube, Nicolas A1 - Harris, Mark A1 - Hofreiter, Michael A1 - White, William T. A1 - Naylor, Gavin J. P. T1 - DNA capture reveals transoceanic gene flow in endangered river sharks JF - Proceedings of the National Academy of Sciences of the United States of America N2 - For over a hundred years, the "river sharks" of the genus Glyphis were only known from the type specimens of species that had been collected in the 19th century. They were widely considered extinct until populations of Glyphis-like sharks were rediscovered in remote regions of Borneo and Northern Australia at the end of the 20th century. However, the genetic affinities between the newly discovered Glyphis-like populations and the poorly preserved, original museum-type specimens have never been established. Here, we present the first (to our knowledge) fully resolved, complete phylogeny of Glyphis that includes both archival-type specimens and modern material. We used a sensitive DNA hybridization capture method to obtain complete mitochondrial genomes from all of our samples and show that three of the five described river shark species are probably conspecific and widely distributed in Southeast Asia. Furthermore we show that there has been recent gene flow between locations that are separated by large oceanic expanses. Our data strongly suggest marine dispersal in these species, overturning the widely held notion that river sharks are restricted to freshwater. It seems that species in the genus Glyphis are euryhaline with an ecology similar to the bull shark, in which adult individuals live in the ocean while the young grow up in river habitats with reduced predation pressure. Finally, we discovered a previously unidentified species within the genus Glyphis that is deeply divergent from all other lineages, underscoring the current lack of knowledge about the biodiversity and ecology of these mysterious sharks. KW - freshwater sharks KW - DNA KW - museum specimens Y1 - 2015 U6 - https://doi.org/10.1073/pnas.1508735112 SN - 0027-8424 VL - 112 IS - 43 SP - 13302 EP - 13307 PB - National Acad. of Sciences CY - Washington ER - TY - JOUR A1 - Huynen, Leon A1 - Suzuki, Takayuki A1 - Ogura, Toshihiko A1 - Watanabe, Yusuke A1 - Millar, Craig D. A1 - Hofreiter, Michael A1 - Smith, Craig A1 - Mirmoeini, Sara A1 - Lambert, David M. T1 - Reconstruction and in vivo analysis of the extinct tbx5 gene from ancient wingless moa (Aves: Dinornithiformes) JF - BMC evolutionary biology N2 - Background: The forelimb-specific gene tbx5 is highly conserved and essential for the development of forelimbs in zebrafish, mice, and humans. Amongst birds, a single order, Dinornithiformes, comprising the extinct wingless moa of New Zealand, are unique in having no skeletal evidence of forelimb-like structures. Results: To determine the sequence of tbx5 in moa, we used a range of PCR-based techniques on ancient DNA to retrieve all nine tbx5 exons and splice sites from the giant moa, Dinornis. Moa Tbx5 is identical to chicken Tbx5 in being able to activate the downstream promotors of fgf10 and ANF. In addition we show that missexpression of moa tbx5 in the hindlimb of chicken embryos results in the formation of forelimb features, suggesting that Tbx5 was fully functional in wingless moa. An alternatively spliced exon 1 for tbx5 that is expressed specifically in the forelimb region was shown to be almost identical between moa and ostrich, suggesting that, as well as being fully functional, tbx5 is likely to have been expressed normally in moa since divergence from their flighted ancestors, approximately 60 mya. KW - tbx5 KW - Moa KW - Gene expression KW - Ancient DNA KW - Development KW - Forelimb Y1 - 2014 U6 - https://doi.org/10.1186/1471-2148-14-75 SN - 1471-2148 VL - 14 PB - BioMed Central CY - London ER - TY - JOUR A1 - Le Duc, Diana A1 - Renaud, Gabriel A1 - Krishnan, Arunkumar A1 - Almen, Markus Sallman A1 - Huynen, Leon A1 - Prohaska, Sonja J. A1 - Ongyerth, Matthias A1 - Bitarello, Barbara D. A1 - Schioth, Helgi B. A1 - Hofreiter, Michael A1 - Stadler, Peter F. A1 - Prüfer, Kay A1 - Lambert, David A1 - Kelso, Janet A1 - Schöneberg, Torsten T1 - Kiwi genome provides insights into evolution of a nocturnal lifestyle JF - Genome biology : biology for the post-genomic era N2 - Background: Kiwi, comprising five species from the genus Apteryx, are endangered, ground-dwelling bird species endemic to New Zealand. They are the smallest and only nocturnal representatives of the ratites. The timing of kiwi adaptation to a nocturnal niche and the genomic innovations, which shaped sensory systems and morphology to allow this adaptation, are not yet fully understood. Results: We sequenced and assembled the brown kiwi genome to 150-fold coverage and annotated the genome using kiwi transcript data and non-redundant protein information from multiple bird species. We identified evolutionary sequence changes that underlie adaptation to nocturnality and estimated the onset time of these adaptations. Several opsin genes involved in color vision are inactivated in the kiwi. We date this inactivation to the Oligocene epoch, likely after the arrival of the ancestor of modern kiwi in New Zealand. Genome comparisons between kiwi and representatives of ratites, Galloanserae, and Neoaves, including nocturnal and song birds, show diversification of kiwi's odorant receptors repertoire, which may reflect an increased reliance on olfaction rather than sight during foraging. Further, there is an enrichment of genes influencing mitochondrial function and energy expenditure among genes that are rapidly evolving specifically on the kiwi branch, which may also be linked to its nocturnal lifestyle. Conclusions: The genomic changes in kiwi vision and olfaction are consistent with changes that are hypothesized to occur during adaptation to nocturnal lifestyle in mammals. The kiwi genome provides a valuable genomic resource for future genome-wide comparative analyses to other extinct and extant diurnal ratites. Y1 - 2015 U6 - https://doi.org/10.1186/s13059-015-0711-4 SN - 1465-6906 SN - 1474-760X VL - 16 PB - BioMed Central CY - London ER - TY - JOUR A1 - Xiang, Hai A1 - Gao, Jianqiang A1 - Yu, Baoquan A1 - Zhou, Hui A1 - Cai, Dawei A1 - Zhang, Youwen A1 - Chen, Xiaoyong A1 - Wang, Xi A1 - Hofreiter, Michael A1 - Zhao, Xingbo T1 - Early Holocene chicken domestication in northern China JF - Proceedings of the National Academy of Sciences of the United States of America N2 - Chickens represent by far the most important poultry species, yet the number, locations, and timings of their domestication have remained controversial for more than a century. Here we report ancient mitochondrial DNA sequences from the earliest archaeological chicken bones from China, dating back to similar to 10,000 B.P. The results clearly show that all investigated bones, including the oldest from the Nanzhuangtou site, are derived from the genus Gallus, rather than any other related genus, such as Phasianus. Our analyses also suggest that northern China represents one region of the earliest chicken domestication, possibly dating as early as 10,000 y B.P. Similar to the evidence from pig domestication, our results suggest that these early domesticated chickens contributed to the gene pool of modern chicken populations. Moreover, our results support the idea that multiple members of the genus Gallus, specifically Gallus gallus and Gallus sonneratii contributed to the gene pool of the modern domestic chicken. Our results provide further support for the growing evidence of an early mixed agricultural complex in northern China. KW - ancient DNA KW - chicken KW - domestication KW - species origin Y1 - 2014 U6 - https://doi.org/10.1073/pnas.1411882111 SN - 0027-8424 VL - 111 IS - 49 SP - 17564 EP - 17569 PB - National Acad. of Sciences CY - Washington ER - TY - JOUR A1 - Schubert, Mikkel A1 - Jonsson, Hakon A1 - Chang, Dan A1 - Sarkissian, Clio Der A1 - Ermini, Luca A1 - Ginolhac, Aurelien A1 - Albrechtsen, Anders A1 - Dupanloup, Isabelle A1 - Foucal, Adrien A1 - Petersen, Bent Larsen A1 - Fumagalli, Matteo A1 - Raghavan, Maanasa A1 - Seguin-Orlando, Andaine A1 - Korneliussen, Thorfinn S. A1 - Velazquez, Amhed M. V. A1 - Stenderup, Jesper A1 - Hoover, Cindi A. A1 - Rubin, Carl-Johan A1 - Alfarhan, Ahmed H. A1 - Alquraishi, Saleh A. A1 - Al-Rasheid, Khaled A. S. A1 - MacHugh, David E. A1 - Kalbfleisch, Ted A1 - MacLeod, James N. A1 - Rubin, Edward M. A1 - Sicheritz-Ponten, Thomas A1 - Andersson, Leif A1 - Hofreiter, Michael A1 - Marques-Bonet, Tomas A1 - Gilbert, M. Thomas P. A1 - Nielsen, Rasmus A1 - Excoffier, Laurent A1 - Willerslev, Eske A1 - Shapiro, Beth A1 - Orlando, Ludovic T1 - Prehistoric genomes reveal the genetic foundation and cost of horse domestication JF - Proceedings of the National Academy of Sciences of the United States of America Y1 - 2014 U6 - https://doi.org/10.1073/pnas.1416991111 SN - 0027-8424 VL - 111 IS - 52 SP - E5661 EP - E5669 PB - National Acad. of Sciences CY - Washington ER - TY - JOUR A1 - Elsner, Julia A1 - Schibler, Joerg A1 - Hofreiter, Michael A1 - Schlumbaum, Angela T1 - Burial condition is the most important factor for mtDNA PCR amplification success in Palaeolithic equid remains from the Alpine foreland JF - Archaeological and anthropological sciences N2 - Faunal remains from Palaeolithic sites are important genetic sources to study preglacial and postglacial populations and to investigate the effect of climate change and human impact. Post mortem decay, resulting in fragmented and chemically modified DNA, is a key obstacle in ancient DNA analyses. In the absence of reliable methods to determine the presence of endogenous DNA in sub-fossil samples, temporal and spatial surveys of DNA survival on a regional scale may help to estimate the potential of faunal remains from a given time period and region. We therefore investigated PCR amplification success, PCR performance and post mortem damage in c. 47,000 to c. 12,000-year-old horse remains from 14 Palaeolithic sites along the Swiss Jura Mountains in relation to depositional context, tissue type, storage time and age, potentially influencing DNA preservation. The targeted 75 base pair mitochondrial DNA fragment could be amplified solely from equid remains from caves and not from any of the open dry and (temporary) wetland sites. Whether teeth are better than bones cannot be ultimately decided; however, both storage time after excavation and age significantly affect PCR amplification and performance, albeit not in a linear way. This is best explained by the-inevitable-heterogeneity of the data set. The extent of post mortem damage is not related to any of the potential impact factors. The results encourage comprehensive investigations of Palaeolithic cave sites, even from temperate regions. KW - Ancient DNA KW - DNA preservation KW - Horse KW - Cave KW - Switzerland Y1 - 2015 U6 - https://doi.org/10.1007/s12520-014-0213-4 SN - 1866-9557 SN - 1866-9565 VL - 7 IS - 4 SP - 505 EP - 515 PB - Springer CY - Heidelberg ER - TY - GEN A1 - Rainford, James L. A1 - Hofreiter, Michael A1 - Mayhew, Peter J. T1 - Phylogenetic analyses suggest that diversification and body size evolution are independent in insects T2 - BMC evolutionary biology N2 - Background: Skewed body size distributions and the high relative richness of small-bodied taxa are a fundamental property of a wide range of animal clades. The evolutionary processes responsible for generating these distributions are well described in vertebrate model systems but have yet to be explored in detail for other major terrestrial clades. In this study, we explore the macro-evolutionary patterns of body size variation across families of Hexapoda (insects and their close relatives), using recent advances in phylogenetic understanding, with an aim to investigate the link between size and diversity within this ancient and highly diverse lineage. Results: The maximum, minimum and mean-log body lengths of hexapod families are all approximately log-normally distributed, consistent with previous studies at lower taxonomic levels, and contrasting with skewed distributions typical of vertebrate groups. After taking phylogeny and within-tip variation into account, we find no evidence for a negative relationship between diversification rate and body size, suggesting decoupling of the forces controlling these two traits. Likelihood-based modeling of the log-mean body size identifies distinct processes operating within Holometabola and Diptera compared with other hexapod groups, consistent with accelerating rates of size evolution within these clades, while as a whole, hexapod body size evolution is found to be dominated by neutral processes including significant phylogenetic conservatism. Conclusions: Based on our findings we suggest that the use of models derived from well-studied but atypical clades, such as vertebrates may lead to misleading conclusions when applied to other major terrestrial lineages. Our results indicate that within hexapods, and within the limits of current systematic and phylogenetic knowledge, insect diversification is generally unfettered by size-biased macro-evolutionary processes, and that these processes over large timescales tend to converge on apparently neutral evolutionary processes. We also identify limitations on available data within the clade and modeling approaches for the resolution of trees of higher taxa, the resolution of which may collectively enhance our understanding of this key component of terrestrial ecosystems. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 441 KW - body size KW - diversification KW - hexapoda KW - insects KW - phylogeny Y1 - 2018 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-407328 ER - TY - JOUR A1 - Procter, Duncan S. A1 - Cottrell, Joan E. A1 - Watts, Kevin A1 - Hofreiter, Michael A1 - Robinson, Elva J. H. T1 - Does cooperation mean kinship between spatially discrete ant nests? JF - Ecology and evolution N2 - Eusociality is one of the most complex forms of social organization, characterized by cooperative and reproductive units termed colonies. Altruistic behavior of workers within colonies is explained by inclusive fitness, with indirect fitness benefits accrued by helping kin. Members of a social insect colony are expected to be more closely related to one another than they are to other conspecifics. In many social insects, the colony can extend to multiple socially connected but spatially separate nests (polydomy). Social connections, such as trails between nests, promote cooperation and resource exchange, and we predict that workers from socially connected nests will have higher internest relatedness than those from socially unconnected, and noncooperating, nests. We measure social connections, resource exchange, and internest genetic relatedness in the polydomous wood ant Formica lugubris to test whether (1) socially connected but spatially separate nests cooperate, and (2) high internest relatedness is the underlying driver of this cooperation. Our results show that socially connected nests exhibit movement of workers and resources, which suggests they do cooperate, whereas unconnected nests do not. However, we find no difference in internest genetic relatedness between socially connected and unconnected nest pairs, both show high kinship. Our results suggest that neighboring pairs of connected nests show a social and cooperative distinction, but no genetic distinction. We hypothesize that the loss of a social connection may initiate ecological divergence within colonies. Genetic divergence between neighboring nests may build up only later, as a consequence rather than a cause of colony separation. KW - colony organization KW - eusociality KW - Formica lugubris KW - kin selection KW - polydomy KW - social organization Y1 - 2016 U6 - https://doi.org/10.1002/ece3.2590 SN - 2045-7758 VL - 6 SP - 8846 EP - 8856 PB - Wiley-Blackwell CY - Hoboken ER - TY - JOUR A1 - Wutke, Saskia A1 - Benecke, Norbert A1 - Sandoval-Castellanos, Edson A1 - Döhle, Hans-Jürgen A1 - Friederich, Susanne A1 - Gonzalez Soto, Javier Esteban A1 - Hallsson, Jon Hallsteinn A1 - Hofreiter, Michael A1 - Lougas, Lembi A1 - Magnell, Ola A1 - Morales-Muniz, Arturo A1 - Orlando, Ludovic A1 - Palsdottir, Albina Hulda A1 - Reissmann, Monika A1 - Ruttkay, Matej A1 - Trinks, Alexandra A1 - Ludwig, Arne T1 - Spotted phenotypes in horses lost attractiveness in the Middle Ages JF - Scientific reports N2 - Horses have been valued for their diversity of coat colour since prehistoric times; this is especially the case since their domestication in the Caspian steppe in similar to 3,500 BC. Although we can assume that human preferences were not constant, we have only anecdotal information about how domestic horses were influenced by humans. Our results from genotype analyses show a significant increase in spotted coats in early domestic horses (Copper Age to Iron Age). In contrast, medieval horses carried significantly fewer alleles for these phenotypes, whereas solid phenotypes (i.e., chestnut) became dominant. This shift may have been supported because of (i) pleiotropic disadvantages, (ii) a reduced need to separate domestic horses from their wild counterparts, (iii) a lower religious prestige, or (iv) novel developments in weaponry. These scenarios may have acted alone or in combination. However, the dominance of chestnut is a remarkable feature of the medieval horse population. Y1 - 2016 U6 - https://doi.org/10.1038/srep38548 SN - 2045-2322 VL - 6 PB - Nature Publ. Group CY - London ER - TY - GEN A1 - Wutke, Saskia A1 - Andersson, Leif A1 - Benecke, Norbert A1 - Sandoval-Castellanos, Edson A1 - Gonzalez, Javier A1 - Hallsson, Jon Hallsteinn A1 - Lougas, Lembi A1 - Magnell, Ola A1 - Morales-Muniz, Arturo A1 - Orlando, Ludovic A1 - Palsdottir, Albina Hulda A1 - Reissmann, Monika A1 - Munoz-Rodriguez, Mariana B. A1 - Ruttkay, Matej A1 - Trinks, Alexandra A1 - Hofreiter, Michael A1 - Ludwig, Arne T1 - The origin of ambling horses T2 - Current biology N2 - Horseback riding is the most fundamental use of domestic horses and has had a huge influence on the development of human societies for millennia. Over time, riding techniques and the style of riding improved. Therefore, horses with the ability to perform comfortable gaits (e.g. ambling or pacing), so-called ‘gaited’ horses, have been highly valued by humans, especially for long distance travel. Recently, the causative mutation for gaitedness in horses has been linked to a substitution causing a premature stop codon in the DMRT3 gene (DMRT3_Ser301STOP) [1]. In mice, Dmrt3 is expressed in spinal cord interneurons and plays an important role in the development of limb movement coordination [1]. Genotyping the position in 4396 modern horses from 141 breeds revealed that nowadays the mutated allele is distributed worldwide with an especially high frequency in gaited horses and breeds used for harness racing [2]. Here, we examine historic horse remains for the DMRT3 SNP, tracking the origin of gaitedness to Medieval England between 850 and 900 AD. The presence of the corresponding allele in Icelandic horses (9th–11th century) strongly suggests that ambling horses were brought from the British Isles to Iceland by Norse people. Considering the high frequency of the ambling allele in early Icelandic horses, we believe that Norse settlers selected for this comfortable mode of horse riding soon after arrival. The absence of the allele in samples from continental Europe (including Scandinavia) at this time implies that ambling horses may have spread from Iceland and maybe also the British Isles across the continent at a later date. Y1 - 2016 U6 - https://doi.org/10.1016/j.cub.2016.07.001 SN - 0960-9822 SN - 1879-0445 VL - 26 SP - R697 EP - R699 PB - Cell Press CY - Cambridge ER - TY - JOUR A1 - Almathen, Faisal A1 - Charruau, Pauline A1 - Mohandesan, Elmira A1 - Mwacharo, Joram M. A1 - Orozco-terWengel, Pablo A1 - Pitt, Daniel A1 - Abdussamad, Abdussamad M. A1 - Uerpmann, Margarethe A1 - Uerpmann, Hans-Peter A1 - De Cupere, Bea A1 - Magee, Peter A1 - Alnaqeeb, Majed A. A1 - Salim, Bashir A1 - Raziq, Abdul A1 - Dessie, Tadelle A1 - Abdelhadi, Omer M. A1 - Banabazi, Mohammad H. A1 - Al-Eknah, Marzook A1 - Walzer, Chris A1 - Fayer, Bernard A1 - Hofreiter, Michael A1 - Peters, Joris A1 - Hanotte, Olivier A1 - Burger, Pamela A. T1 - Ancient and modern DNA reveal dynamics of domestication and cross-continental dispersal of the dromedary JF - Proceedings of the National Academy of Sciences of the United States of America N2 - Dromedaries have been fundamental to the development of human societies in arid landscapes and for long-distance trade across hostile hot terrains for 3,000 y. Today they continue to be an important livestock resource in marginal agro-ecological zones. However, the history of dromedary domestication and the influence of ancient trading networks on their genetic structure have remained elusive. We combined ancient DNA sequences of wild and early-domesticated dromedary samples from arid regions with nuclear microsatellite and mitochondrial genotype information from 1,083 extant animals collected across the species’ range. We observe little phylogeographic signal in the modern population, indicative of extensive gene flow and virtually affecting all regions except East Africa, where dromedary populations have remained relatively isolated. In agreement with archaeological findings, we identify wild dromedaries from the southeast Arabian Peninsula among the founders of the domestic dromedary gene pool. Approximate Bayesian computations further support the “restocking from the wild” hypothesis, with an initial domestication followed by introgression from individuals from wild, now-extinct populations. Compared with other livestock, which show a long history of gene flow with their wild ancestors, we find a high initial diversity relative to the native distribution of the wild ancestor on the Arabian Peninsula and to the brief coexistence of early-domesticated and wild individuals. This study also demonstrates the potential to retrieve ancient DNA sequences from osseous remains excavated in hot and dry desert environments. KW - anthropogenic admixture KW - Camelus dromedarius KW - demographic history KW - paleogenetics KW - wild dromedary Y1 - 2016 U6 - https://doi.org/10.1073/pnas.1519508113 SN - 0027-8424 VL - 113 SP - 6707 EP - 6712 PB - National Acad. of Sciences CY - Washington ER - TY - JOUR A1 - Speller, Camilla A1 - van den Hurk, Youri A1 - Charpentier, Anne A1 - Rodrigues, Ana A1 - Gardeisen, Armelle A1 - Wilkens, Barbara A1 - McGrath, Krista A1 - Rowsell, Keri A1 - Spindler, Luke A1 - Collins, Matthew J. A1 - Hofreiter, Michael T1 - Barcoding the largest animals on Earth: ongoing challenges and molecular solutions in the taxonomic identification of ancient cetaceans JF - Philosophical transactions of the Royal Society of London : B, Biological sciences KW - ancient DNA KW - archaeozoology KW - cetaceans KW - collagen peptide mass fingerprinting KW - species identification KW - zooarchaeology by mass spectrometry Y1 - 2016 U6 - https://doi.org/10.1098/rstb.2015.0332 SN - 0962-8436 SN - 1471-2970 VL - 371 PB - Royal Society CY - London ER - TY - JOUR A1 - Rainford, James L. A1 - Hofreiter, Michael A1 - Mayhew, Peter J. T1 - Phylogenetic analyses suggest that diversification and body size evolution are independent in insects JF - BMC evolutionary biology N2 - Background: Skewed body size distributions and the high relative richness of small-bodied taxa are a fundamental property of a wide range of animal clades. The evolutionary processes responsible for generating these distributions are well described in vertebrate model systems but have yet to be explored in detail for other major terrestrial clades. In this study, we explore the macro-evolutionary patterns of body size variation across families of Hexapoda (insects and their close relatives), using recent advances in phylogenetic understanding, with an aim to investigate the link between size and diversity within this ancient and highly diverse lineage. Results: The maximum, minimum and mean-log body lengths of hexapod families are all approximately log-normally distributed, consistent with previous studies at lower taxonomic levels, and contrasting with skewed distributions typical of vertebrate groups. After taking phylogeny and within-tip variation into account, we find no evidence for a negative relationship between diversification rate and body size, suggesting decoupling of the forces controlling these two traits. Likelihood-based modeling of the log-mean body size identifies distinct processes operating within Holometabola and Diptera compared with other hexapod groups, consistent with accelerating rates of size evolution within these clades, while as a whole, hexapod body size evolution is found to be dominated by neutral processes including significant phylogenetic conservatism. Conclusions: Based on our findings we suggest that the use of models derived from well-studied but atypical clades, such as vertebrates may lead to misleading conclusions when applied to other major terrestrial lineages. Our results indicate that within hexapods, and within the limits of current systematic and phylogenetic knowledge, insect diversification is generally unfettered by size-biased macro-evolutionary processes, and that these processes over large timescales tend to converge on apparently neutral evolutionary processes. We also identify limitations on available data within the clade and modeling approaches for the resolution of trees of higher taxa, the resolution of which may collectively enhance our understanding of this key component of terrestrial ecosystems. KW - Body size KW - Diversification KW - Hexapoda KW - Insects KW - Phylogeny Y1 - 2016 U6 - https://doi.org/10.1186/s12862-015-0570-3 SN - 1471-2148 VL - 16 SP - 47 EP - 55 PB - BioMed Central CY - London ER - TY - JOUR A1 - Casas-Marce, Mireia A1 - Marmesat, Elena A1 - Soriano, Laura A1 - Martinez-Cruz, Begona A1 - Lucena-Perez, Maria A1 - Nocete, Francisco A1 - Rodriguez-Hidalgo, Antonio A1 - Canals, Antoni A1 - Nadal, Jordi A1 - Detry, Cleia A1 - Bernaldez-Sanchez, Eloisa A1 - Fernandez-Rodriguez, Carlos A1 - Perez-Ripoll, Manuel A1 - Stiller, Mathias A1 - Hofreiter, Michael A1 - Rodriguez, Alejandro A1 - Revilla, Eloy A1 - Delibes, Miguel A1 - Godoy, Jose A. T1 - Spatiotemporal Dynamics of Genetic Variation in the Iberian Lynx along Its Path to Extinction Reconstructed with Ancient DNA JF - Molecular biology and evolution N2 - There is the tendency to assume that endangered species have been both genetically and demographically healthier in the past, so that any genetic erosion observed today was caused by their recent decline. The Iberian lynx (Lynx pardinus) suffered a dramatic and continuous decline during the 20th century, and now shows extremely low genome- and species-wide genetic diversity among other signs of genomic erosion. We analyze ancient (N = 10), historical (N = 245), and contemporary (N = 172) samples with microsatellite and mitogenome data to reconstruct the species' demography and investigate patterns of genetic variation across space and time. Iberian lynx populations transitioned from low but significantly higher genetic diversity than today and shallow geographical differentiation millennia ago, through a structured metapopulation with varying levels of diversity during the last centuries, to two extremely genetically depauperate and differentiated remnant populations by 2002. The historical subpopulations show varying extents of genetic drift in relation to their recent size and time in isolation, but these do not predict whether the populations persisted or went finally extinct. In conclusion, current genetic patterns were mainly shaped by genetic drift, supporting the current admixture of the two genetic pools and calling for a comprehensive genetic management of the ongoing conservation program. This study illustrates how a retrospective analysis of demographic and genetic patterns of endangered species can shed light onto their evolutionary history and this, in turn, can inform conservation actions. KW - Iberian lynx KW - ancient DNA KW - paleogenetics KW - genetic erosion KW - endangered species Y1 - 2017 U6 - https://doi.org/10.1093/molbev/msx222 SN - 0737-4038 SN - 1537-1719 VL - 34 SP - 2893 EP - 2907 PB - Oxford Univ. Press CY - Oxford ER - TY - JOUR A1 - Alter, S. Elizabeth A1 - Meyer, Matthias A1 - Post, Klaas A1 - Czechowski, Paul A1 - Gravlund, Peter A1 - Gaines, Cork A1 - Rosenbaum, Howard C. A1 - Kaschner, Kristin A1 - Turvey, Samuel T. A1 - van der Plicht, Johannes A1 - Shapiro, Beth A1 - Hofreiter, Michael T1 - Climate impacts on transocean dispersal and habitat in gray whales from the Pleistocene to 2100 JF - Molecular ecology N2 - Arctic animals face dramatic habitat alteration due to ongoing climate change. Understanding how such species have responded to past glacial cycles can help us forecast their response to today's changing climate. Gray whales are among those marine species likely to be strongly affected by Arctic climate change, but a thorough analysis of past climate impacts on this species has been complicated by lack of information about an extinct population in the Atlantic. While little is known about the history of Atlantic gray whales or their relationship to the extant Pacific population, the extirpation of the Atlantic population during historical times has been attributed to whaling. We used a combination of ancient and modern DNA, radiocarbon dating and predictive habitat modelling to better understand the distribution of gray whales during the Pleistocene and Holocene. Our results reveal that dispersal between the Pacific and Atlantic was climate dependent and occurred both during the Pleistocene prior to the last glacial period and the early Holocene immediately following the opening of the Bering Strait. Genetic diversity in the Atlantic declined over an extended interval that predates the period of intensive commercial whaling, indicating this decline may have been precipitated by Holocene climate or other ecological causes. These first genetic data for Atlantic gray whales, particularly when combined with predictive habitat models for the year 2100, suggest that two recent sightings of gray whales in the Atlantic may represent the beginning of the expansion of this species' habitat beyond its currently realized range. KW - ancient DNA KW - climate change KW - last glacial maximum KW - marine mammal Y1 - 2015 U6 - https://doi.org/10.1111/mec.13121 SN - 0962-1083 SN - 1365-294X VL - 24 IS - 7 SP - 1510 EP - 1522 PB - Wiley-Blackwell CY - Hoboken ER - TY - INPR A1 - Hagelberg, Erika A1 - Hofreiter, Michael A1 - Keyser, Christine T1 - Ancient DNA: the first three decades T2 - Philosophical transactions of the Royal Society of London : B, Biological sciences KW - ancient DNA KW - human evolutionary genetics KW - palaeogenomics Y1 - 2015 U6 - https://doi.org/10.1098/rstb.2013.0371 SN - 0962-8436 SN - 1471-2970 VL - 370 IS - 1660 PB - Royal Society CY - London ER - TY - JOUR A1 - Teasdale, Matthew David A1 - van Doorn, N. L. A1 - Fiddyment, S. A1 - Webb, C. C. A1 - Hofreiter, Michael A1 - Collins, Matthew J. A1 - Bradley, Daniel G. T1 - Paging through history: parchment as a reservoir of ancient DNA for next generation sequencing JF - Philosophical transactions of the Royal Society of London : B, Biological sciences N2 - Parchment represents an invaluable cultural reservoir. Retrieving an additional layer of information from these abundant, dated livestock-skins via the use of ancient DNA (aDNA) sequencing has been mooted by a number of researchers. However, prior PCR-based work has indicated that this may be challenged by cross-individual and cross-species contamination, perhaps from the bulk parchment preparation process. Here we apply next generation sequencing to two parchments of seventeenth and eighteenth century northern English provenance. Following alignment to the published sheep, goat, cow and human genomes, it is clear that the only genome displaying substantial unique homology is sheep and this species identification is confirmed by collagen peptide mass spectrometry. Only 4% of sequence reads align preferentially to a different species indicating low contamination across species. Moreover, mitochondrial DNA sequences suggest an upper bound of contamination at 5%. Over 45% of reads aligned to the sheep genome, and even this limited sequencing exercise yield 9 and 7% of each sampled sheep genome post filtering, allowing the mapping of genetic affinity to modern British sheep breeds. We conclude that parchment represents an excellent substrate for genomic analyses of historical livestock. KW - parchment KW - next generation sequencing KW - ancient DNA KW - ZooMS KW - sheep Y1 - 2015 U6 - https://doi.org/10.1098/rstb.2013.0379 SN - 0962-8436 SN - 1471-2970 VL - 370 IS - 1660 PB - Royal Society CY - London ER - TY - JOUR A1 - Germonpre, Mietje A1 - Sablin, Mikhail V. A1 - Laznickova-Galetova, Martina A1 - Despres, Viviane A1 - Stevens, Rhiannon E. A1 - Stiller, Mathias A1 - Hofreiter, Michael T1 - Palaeolithic dogs and Pleistocene wolves revisited: a reply to Morey (2014) JF - Journal of archaeological science N2 - This is a reply to the comments of Morey (2014) on our identification of Palaeolithic dogs from several European Palaeolithic sites. In his comments Morey (2014) presents some misrepresentations and misunderstandings that we remedy here. In contrast to what Morey (2014) propounds, our results suggest that the domestication of the wolf was a long process that started early in the Upper Palaeolithic and that since that time two sympatric canid morphotypes can be seen in Eurasian sites: Pleistocene wolves and Palaeolithic dogs. Contrary to Morey (2014), we are convinced that the study of this domestication process should be multidisciplinary. (C) 2014 Elsevier Ltd. All rights reserved. KW - Canid morphotype KW - Dog KW - Domestication KW - Palaeolithic KW - Pleistocene KW - Wolf Y1 - 2015 U6 - https://doi.org/10.1016/j.jas.2014.11.035 SN - 0305-4403 SN - 1095-9238 VL - 54 SP - 210 EP - 216 PB - Elsevier CY - London ER - TY - GEN A1 - Elsner, Julia A1 - Schibler, Jörg A1 - Hofreiter, Michael A1 - Schlumbaum, Angela T1 - Burial condition is the most important factor for mtDNA PCR amplification success in Palaeolithic equid remains from the Alpine foreland T2 - Postprints der Universität Potsdam Mathematisch-Naturwissenschaftliche Reihe N2 - Faunal remains from Palaeolithic sites are important genetic sources to study preglacial and postglacial populations and to investigate the effect of climate change and human impact. Post mortem decay, resulting in fragmented and chemically modified DNA, is a key obstacle in ancient DNA analyses. In the absence of reliable methods to determine the presence of endogenous DNA in sub-fossil samples, temporal and spatial surveys of DNA survival on a regional scale may help to estimate the potential of faunal remains from a given time period and region. We therefore investigated PCR amplification success, PCR performance and post mortem damage in c. 47,000 to c. 12,000-year-old horse remains from 14 Palaeolithic sites along the Swiss Jura Mountains in relation to depositional context, tissue type, storage time and age, potentially influencing DNA preservation. The targeted 75 base pair mitochondrial DNA fragment could be amplified solely from equid remains from caves and not from any of the open dry and (temporary) wetland sites. Whether teeth are better than bones cannot be ultimately decided; however, both storage time after excavation and age significantly affect PCR amplification and performance, albeit not in a linear way. This is best explained by the—inevitable—heterogeneity of the data set. The extent of post mortem damage is not related to any of the potential impact factors. The results encourage comprehensive investigations of Palaeolithic cave sites, even from temperate regions. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 727 KW - ancient DNA KW - DNA preservation KW - horse KW - cave KW - Switzerland Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-429763 SN - 1866-8372 IS - 727 SP - 505 EP - 515 ER - TY - JOUR A1 - Grau, José Horacio A1 - Hackl, Thomas A1 - Koepfli, Klaus-Peter A1 - Hofreiter, Michael T1 - Improving draft genome contiguity with reference-derived in silico mate-pair libraries JF - GigaScience N2 - Background Contiguous genome assemblies are a highly valued biological resource because of the higher number of completely annotated genes and genomic elements that are usable compared to fragmented draft genomes. Nonetheless, contiguity is difficult to obtain if only low coverage data and/or only distantly related reference genome assemblies are available. Findings In order to improve genome contiguity, we have developed Cross-Species Scaffolding—a new pipeline that imports long-range distance information directly into the de novo assembly process by constructing mate-pair libraries in silico. Conclusions We show how genome assembly metrics and gene prediction dramatically improve with our pipeline by assembling two primate genomes solely based on ∼30x coverage of shotgun sequencing data. KW - genome assembly KW - mate-pairs KW - in silico KW - scaffolding KW - shotgun sequencing Y1 - 2018 U6 - https://doi.org/10.1093/gigascience/giy029 SN - 2047-217X VL - 7 IS - 5 SP - 1 EP - 6 PB - Oxford University Press CY - Oxford ER - TY - GEN A1 - Grau, José Horacio A1 - Hackl, Thomas A1 - Koepfli, Klaus-Peter A1 - Hofreiter, Michael T1 - Improving draft genome contiguity with reference-derived in silico mate-pair libraries T2 - GigaScience N2 - Background Contiguous genome assemblies are a highly valued biological resource because of the higher number of completely annotated genes and genomic elements that are usable compared to fragmented draft genomes. Nonetheless, contiguity is difficult to obtain if only low coverage data and/or only distantly related reference genome assemblies are available. Findings In order to improve genome contiguity, we have developed Cross-Species Scaffolding—a new pipeline that imports long-range distance information directly into the de novo assembly process by constructing mate-pair libraries in silico. Conclusions We show how genome assembly metrics and gene prediction dramatically improve with our pipeline by assembling two primate genomes solely based on ∼30x coverage of shotgun sequencing data. T3 - Zweitveröffentlichungen der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe - 477 KW - genome assembly KW - mate-pairs KW - in silico KW - scaffolding KW - shotgun sequencing Y1 - 2018 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-419225 ER - TY - JOUR A1 - Meyer, Matthias A1 - Palkopoulou, Eleftheria A1 - Baleka, Sina Isabelle A1 - Stiller, Mathias A1 - Penkman, Kirsty E. H. A1 - Alt, Kurt W. A1 - Ishida, Yasuko A1 - Mania, Dietrich A1 - Mallick, Swapan A1 - Meijer, Tom A1 - Meller, Harald A1 - Nagel, Sarah A1 - Nickel, Birgit A1 - Ostritz, Sven A1 - Rohland, Nadin A1 - Schauer, Karol A1 - Schueler, Tim A1 - Roca, Alfred L. A1 - Reich, David A1 - Shapiro, Beth A1 - Hofreiter, Michael T1 - Palaeogenomes of Eurasian straight-tusked elephants challenge the current view of elephant evolution JF - eLife N2 - The straight-tusked elephants Palaeoloxodon spp. were widespread across Eurasia during the Pleistocene. Phylogenetic reconstructions using morphological traits have grouped them with Asian elephants (Elephas maximus), and many paleontologists place Palaeoloxodon within Elephas. Here, we report the recovery of full mitochondrial genomes from four and partial nuclear genomes from two P. antiquus fossils. These fossils were collected at two sites in Germany, Neumark-Nord and Weimar-Ehringsdorf, and likely date to interglacial periods similar to 120 and similar to 244 thousand years ago, respectively. Unexpectedly, nuclear and mitochondrial DNA analyses suggest that P. antiquus was a close relative of extant African forest elephants (Loxodonta cyclotis). Species previously referred to Palaeoloxodon are thus most parsimoniously explained as having diverged from the lineage of Loxodonta, indicating that Loxodonta has not been constrained to Africa. Our results demonstrate that the current picture of elephant evolution is in need of substantial revision. Y1 - 2017 U6 - https://doi.org/10.7554/eLife.25413 SN - 2050-084X VL - 6 PB - eLife Sciences Publications CY - Cambridge ER - TY - JOUR A1 - Elsner, Julia A1 - Hofreiter, Michael A1 - Schibler, Joerg A1 - Schlumbaum, Angela T1 - Ancient mtDNA diversity reveals specific population development of wild horses in Switzerland after the Last Glacial Maximum JF - PLoS one Y1 - 2017 U6 - https://doi.org/10.1371/journal.pone.0177458 SN - 1932-6203 VL - 12 SP - 17246 EP - 17256 PB - PLoS CY - San Fransisco ER - TY - JOUR A1 - Librado, Pablo A1 - Gamba, Cristina A1 - Gaunitz, Charleen A1 - Sarkissian, Clio Der A1 - Pruvost, Melanie A1 - Albrechtsen, Anders A1 - Fages, Antoine A1 - Khan, Naveed A1 - Schubert, Mikkel A1 - Jagannathan, Vidhya A1 - Serres-Armero, Aitor A1 - Kuderna, Lukas F. K. A1 - Povolotskaya, Inna S. A1 - Seguin-Orlando, Andaine A1 - Lepetz, Sebastien A1 - Neuditschko, Markus A1 - Theves, Catherine A1 - Alquraishi, Saleh A. A1 - Alfarhan, Ahmed H. A1 - Al-Rasheid, Khaled A. S. A1 - Rieder, Stefan A1 - Samashev, Zainolla A1 - Francfort, Henri-Paul A1 - Benecke, Norbert A1 - Hofreiter, Michael A1 - Ludwig, Arne A1 - Keyser, Christine A1 - Marques-Bonet, Tomas A1 - Ludes, Bertrand A1 - Crubezy, Eric A1 - Leeb, Tosso A1 - Willerslev, Eske A1 - Orlando, Ludovic T1 - Ancient genomic changes associated with domestication of the horse JF - Science N2 - The genomic changes underlying both early and late stages of horse domestication remain largely unknown. We examined the genomes of 14 early domestic horses from the Bronze and Iron Ages, dating to between similar to 4.1 and 2.3 thousand years before present. We find early domestication selection patterns supporting the neural crest hypothesis, which provides a unified developmental origin for common domestic traits. Within the past 2.3 thousand years, horses lost genetic diversity and archaic DNA tracts introgressed from a now-extinct lineage. They accumulated deleterious mutations later than expected under the cost-of-domestication hypothesis, probably because of breeding from limited numbers of stallions. We also reveal that Iron Age Scythian steppe nomads implemented breeding strategies involving no detectable inbreeding and selection for coat-color variation and robust forelimbs. Y1 - 2017 U6 - https://doi.org/10.1126/science.aam5298 SN - 0036-8075 SN - 1095-9203 VL - 356 SP - 442 EP - 445 PB - American Assoc. for the Advancement of Science CY - Washington ER - TY - JOUR A1 - González-Fortes, Gloria M. A1 - Jones, Eppie R. A1 - Lightfoot, Emma A1 - Bonsall, Clive A1 - Lazar, Catalin A1 - Dolores Garralda, Maria A1 - Drak, Labib A1 - Siska, Veronika A1 - Simalcsik, Angela A1 - Boroneant, Adina A1 - Vidal Romani, Juan Ramon A1 - Vaqueiro Rodriguez, Marcos A1 - Arias, Pablo A1 - Pinhasi, Ron A1 - Manica, Andrea A1 - Hofreiter, Michael T1 - Paleogenomic Evidence for Multi-generational Mixing between Neolithic Farmers and Mesolithic Hunter-Gatherers in the Lower Danube Basin JF - Current biology N2 - The transition from hunting and gathering to farming involved profound cultural and technological changes. In Western and Central Europe, these changes occurred rapidly and synchronously after the arrival of early farmers of Anatolian origin [1-3], who largely replaced the local Mesolithic hunter-gatherers [1, 4-6]. Further east, in the Baltic region, the transition was gradual, with little or no genetic input from incoming farmers [7]. Here we use ancient DNA to investigate the relationship between hunter-gatherers and farmers in the Lower Danube basin, a geographically intermediate area that is characterized by a rapid Neolithic transition but also by the presence of archaeological evidence that points to cultural exchange, and thus possible admixture, between hunter-gatherers and farmers. We recovered four human paleogenomes (1.13 to 4.13 coverage) from Romania spanning a time transect between 8.8 thousand years ago (kya) and 5.4 kya and supplemented them with two Mesolithic genomes (1.73- and 5.33) from Spain to provide further context on the genetic background of Mesolithic Europe. Our results show major Western hunter-gatherer (WHG) ancestry in a Romanian Eneolithic sample with a minor, but sizeable, contribution from Anatolian farmers, suggesting multiple admixture events between hunter-gatherers and farmers. Dietary stableisotope analysis of this sample suggests a mixed terrestrial/ aquatic diet. Our results provide support for complex interactions among hunter-gatherers and farmers in the Danube basin, demonstrating that in some regions, demic and cultural diffusion were not mutually exclusive, but merely the ends of a continuum for the process of Neolithization. Y1 - 2017 U6 - https://doi.org/10.1016/j.cub.2017.05.023 SN - 0960-9822 SN - 1879-0445 VL - 27 SP - 1801 EP - + PB - Cell Press CY - Cambridge ER - TY - GEN A1 - Gurke, Marie A1 - Vidal-Gorosquieta, Amalia A1 - Pajimans, Johanna L. A. A1 - Wȩcek, Karolina A1 - Barlow, Axel A1 - González-Fortes, Gloria M. A1 - Hartmann, Stefanie A1 - Grandal-d’Anglade, Aurora A1 - Hofreiter, Michael T1 - Insight into the introduction of domestic cattle and the process of Neolithization to the Spanish region Galicia by genetic evidence T2 - Postprints der Universität Potsdam : Mathematisch-Naturwissenschaftliche Reihe N2 - Domestic cattle were brought to Spain by early settlers and agricultural societies. Due to missing Neolithic sites in the Spanish region of Galicia, very little is known about this process in this region. We sampled 18 cattle subfossils from different ages and different mountain caves in Galicia, of which 11 were subject to sequencing of the mitochondrial genome and phylogenetic analysis, to provide insight into the introduction of cattle to this region. We detected high similarity between samples from different time periods and were able to compare the time frame of the first domesticated cattle in Galicia to data from the connecting region of Cantabria to show a plausible connection between the Neolithization of these two regions. Our data shows a close relationship of the early domesticated cattle of Galicia and modern cow breeds and gives a general insight into cattle phylogeny. We conclude that settlers migrated to this region of Spain from Europe and introduced common European breeds to Galicia. KW - Haplogroups KW - Mitochondria KW - Cattle KW - Genomics KW - Domestic animals KW - Livestock KW - Single nucleotide polymorphisms KW - Neolithic period Y1 - 2021 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-520875 SN - 1866-8372 IS - 4 ER - TY - JOUR A1 - Gurke, Marie A1 - Vidal-Gorosquieta, Amalia A1 - Pajimans, Johanna L. A. A1 - Wȩcek, Karolina A1 - Barlow, Axel A1 - González-Fortes, Gloria M. A1 - Hartmann, Stefanie A1 - Grandal-d’Anglade, Aurora A1 - Hofreiter, Michael T1 - Insight into the introduction of domestic cattle and the process of Neolithization to the Spanish region Galicia by genetic evidence JF - PLoS ONE N2 - Domestic cattle were brought to Spain by early settlers and agricultural societies. Due to missing Neolithic sites in the Spanish region of Galicia, very little is known about this process in this region. We sampled 18 cattle subfossils from different ages and different mountain caves in Galicia, of which 11 were subject to sequencing of the mitochondrial genome and phylogenetic analysis, to provide insight into the introduction of cattle to this region. We detected high similarity between samples from different time periods and were able to compare the time frame of the first domesticated cattle in Galicia to data from the connecting region of Cantabria to show a plausible connection between the Neolithization of these two regions. Our data shows a close relationship of the early domesticated cattle of Galicia and modern cow breeds and gives a general insight into cattle phylogeny. We conclude that settlers migrated to this region of Spain from Europe and introduced common European breeds to Galicia. KW - Haplogroups KW - Mitochondria KW - Cattle KW - Genomics KW - Domestic animals KW - Livestock KW - Single nucleotide polymorphisms KW - Neolithic period Y1 - 2020 U6 - https://doi.org/10.1371/journal.pone.0249537 SN - 1932-6203 VL - 16 IS - 4 PB - Public Library of Science CY - San Francisco ER -