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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - JOUR A1 - Gamba, Cristina A1 - Jones, Eppie R. A1 - Teasdale, Matthew D. A1 - McLaughlin, Russell L. A1 - González-Fortes, Gloria M. A1 - Mattiangeli, Valeria A1 - Domboroczki, Laszlo A1 - Kovari, Ivett A1 - Pap, Ildiko A1 - Anders, Alexandra A1 - Whittle, Alasdair A1 - Dani, Janos A1 - Raczky, Pal 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 JF - Nature Communications 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. Y1 - 2014 U6 - https://doi.org/10.1038/ncomms6257 SN - 2041-1723 VL - 5 PB - Nature Publ. Group CY - London ER - TY - JOUR A1 - Lucena-Perez, María A1 - Bazzicalupo, Enrico A1 - Paijmans, Johanna A1 - Kleinman-Ruiz, Daniel A1 - Dalén, Love A1 - Hofreiter, Michael A1 - Delibes, Miguel A1 - Clavero, Miguel A1 - Godoy, José A. T1 - Ancient genome provides insights into the history of Eurasian lynx in Iberia and Western Europe JF - Quaternary science reviews : the international multidisciplinary research and review journal N2 - The Eurasian lynx (Lynx lynx) is one of the most widely distributed felids in the world. However, most of its populations started to decline a few millennia ago. Historical declines have been especially severe in Europe, and particularly in Western Europe, from where the species disappeared in the last few centuries. Here, we analyze the genome of an Eurasian lynx inhabiting the Iberian Peninsula 2500 ya, to gain insights into the phylogeographic position and genetic status of this extinct population. Also, we contextualize previous ancient data in the light of new phylogeographic studies of the species. Our results suggest that the Iberian population is part of an extinct European lineage closely related to the current Carpathian-Baltic lineages. Also, this sample holds the lowest diversity reported for the species so far, and similar to that of the highly endangered Iberian lynx. A combination of historical factors, such as a founder effect while colonizing the peninsula, together with intensified human impacts during the Holocene in the Cantabrian strip, could have led to a genetic impoverishment of the population and precipitated its extinction. Mitogenomic lineages distribution in space and time support the long-term coexistence of several lineages of Eurasian lynx in Western Europe with fluctuating ranges. While mitochondrial sequences related to the lineages currently found in Balkans and Caucasus were predominant during the Pleistocene, those more closely related to the lineage currently distributed in Central Europe prevailed during the Holocene. The use of ancient genomics has proven to be a useful tool to understand the biogeographic pattern of the Eurasian lynx in the past. Y1 - 2022 U6 - https://doi.org/10.1016/j.quascirev.2022.107518 SN - 0277-3791 SN - 1873-457X VL - 285 PB - Elsevier CY - Oxford ER - TY - JOUR A1 - Förster, Daniel W. A1 - Bull, James K. A1 - Lenz, Dorina A1 - Autenrieth, Marijke A1 - Paijmans, Johanna L. A. A1 - Kraus, Robert H. S. A1 - Nowak, Carsten A1 - Bayerl, Helmut A1 - Kühn, Ralph A1 - Saveljev, Alexander P. A1 - Sindicic, Magda A1 - Hofreiter, Michael A1 - Schmidt, Krzysztof A1 - Fickel, Jörns T1 - Targeted resequencing of coding DNA sequences for SNP discovery in nonmodel species JF - Molecular ecology resources N2 - Targeted capture coupled with high-throughput sequencing can be used to gain information about nuclear sequence variation at hundreds to thousands of loci. Divergent reference capture makes use of molecular data of one species to enrich target loci in other (related) species. This is particularly valuable for nonmodel organisms, for which often no a priori knowledge exists regarding these loci. Here, we have used targeted capture to obtain data for 809 nuclear coding DNA sequences (CDS) in a nonmodel organism, the Eurasian lynx Lynx lynx, using baits designed with the help of the published genome of a related model organism (the domestic cat Felis catus). Using this approach, we were able to survey intraspecific variation at hundreds of nuclear loci in L. lynx across the species’ European range. A large set of biallelic candidate SNPs was then evaluated using a high-throughput SNP genotyping platform (Fluidigm), which we then reduced to a final 96 SNP-panel based on assay performance and reliability; validation was carried out with 100 additional Eurasian lynx samples not included in the SNP discovery phase. The 96 SNP-panel developed from CDS performed very successfully in the identification of individuals and in population genetic structure inference (including the assignment of individuals to their source population). In keeping with recent studies, our results show that genic SNPs can be valuable for genetic monitoring of wildlife species. KW - CDS KW - conservation genetics KW - Eurasian lynx KW - genetic monitoring KW - hybridization capture KW - single nucleotide polymorphism Y1 - 2018 U6 - https://doi.org/10.1111/1755-0998.12924 SN - 1755-098X SN - 1755-0998 VL - 18 IS - 6 SP - 1356 EP - 1373 PB - Wiley CY - Hoboken ER - TY - JOUR A1 - Hilgers, Leon A1 - Hartmann, Stefanie A1 - Pfaender, Jobst A1 - Lentge-Maass, Nora A1 - Marwoto, Ristiyanti M. A1 - von Rintelen, Thomas A1 - Hofreiter, Michael T1 - Evolutionary divergence and radula diversification in two ecomorphs from an adaptive radiation of freshwater snails JF - Genes N2 - (1) Background: Adaptive diversification of complex traits plays a pivotal role in the evolution of organismal diversity. In the freshwater snail genus Tylomelania, adaptive radiations were likely promoted by trophic specialization via diversification of their key foraging organ, the radula. (2) Methods: To investigate the molecular basis of radula diversification and its contribution to lineage divergence, we used tissue-specific transcriptomes of two sympatric Tylomelania sarasinorum ecomorphs. (3) Results: We show that ecomorphs are genetically divergent lineages with habitat-correlated abundances. Sequence divergence and the proportion of highly differentially expressed genes are significantly higher between radula transcriptomes compared to the mantle and foot. However, the same is not true when all differentially expressed genes or only non-synonymous SNPs are considered. Finally, putative homologs of some candidate genes for radula diversification (hh, arx, gbb) were also found to contribute to trophic specialization in cichlids and Darwin's finches. (4) Conclusions: Our results are in line with diversifying selection on the radula driving Tylomelania ecomorph divergence and indicate that some molecular pathways may be especially prone to adaptive diversification, even across phylogenetically distant animal groups. KW - speciation KW - adaptive radiation KW - molluscs KW - RNAseq KW - regulatory evolution KW - trophic specialization Y1 - 2022 U6 - https://doi.org/10.3390/genes13061029 SN - 2073-4425 VL - 13 IS - 6 PB - MDPI CY - Basel ER - TY - JOUR A1 - Yuan, Junxia A1 - Sheng, Guilian A1 - Preick, Michaela A1 - Sun, Boyang A1 - Hou, Xindong A1 - Chen, Shungang A1 - Taron, Ulrike Helene A1 - Barlow, Axel A1 - Wang, Linying A1 - Hu, Jiaming A1 - Deng, Tao A1 - Lai, Xulong A1 - Hofreiter, Michael T1 - Mitochondrial genomes of Late Pleistocene caballine horses from China belong to a separate clade JF - Quaternary science reviews : the international multidisciplinary research and review journal N2 - There were several species of Equus in northern China during the Late Pleistocene, including Equus przewalskii and Equus dalianensis. A number of morphological studies have been carried out on E. przewalskii and E. dalianensis, but their evolutionary history is still unresolved. In this study, we retrieved near-complete mitochondrial genomes from E. dalianensis and E. przewalskii specimens excavated from Late Pleistocene strata in northeastern China. Phylogenetic analyses revealed that caballoid horses were divided into two subclades: the New World and the Old World caballine horse subclades. The Old World caballine horses comprise of two deep phylogenetic lineages, with modern and ancient Equus caballus and modern E. przewalskii forming lineage I, and the individuals in this study together with one Yakut specimen forming lineage II. Our results indicate that Chinese Late Pleistocene caballoid horses showed a closer relationship to other Eurasian caballine horses than that to Pleistocene horses from North America. In addition, phylogenetic analyses suggested a close relationship between E. dalianensis and the Chinese fossil E. przewalskii, in agreement with previous researches based on morphological analyses. Interestingly, E. dalianensis and the fossil E. przewalskii were intermixed rather than split into distinct lineages, suggesting either that gene flow existed between these two species or that morphology-based species assignment of palaeontological specimens is not always correct. Moreover, Bayesian analysis showed that the divergence time between the New World and the Old World caballoid horses was at 1.02 Ma (95% CI: 0.86-1.24 Ma), and the two Old World lineages (I & II) split at 0.88 Ma (95% CI: 0.69-1.13 Ma), which indicates that caballoid horses seem to have evolved into different populations in the Old World soon after they migrated from North America via the Bering Land Bridge. Finally, the TMRCA of E. dalianensis was estimated at 0.20 Ma (95% CI: 0.15-0.28 Ma), and it showed a relative low genetic diversity compared with other Equus species. KW - Equus dalianensis KW - Equus przewalskii KW - Pleistocene caballine horses KW - ancient DNA KW - phylogenetic relationship KW - divergence time Y1 - 2020 U6 - https://doi.org/10.1016/j.quascirev.2020.106691 SN - 0277-3791 VL - 250 PB - Elsevier CY - Amsterdam [u.a.] ER - TY - JOUR A1 - Agne, Stefanie A1 - Naylor, Gavin J. P. A1 - Preick, Michaela A1 - Yang, Lei A1 - Thiel, Ralf A1 - Weigmann, Simon A1 - Paijmans, Johanna L. A. A1 - Barlow, Axel A1 - Hofreiter, Michael A1 - Straube, Nicolas T1 - Taxonomic identification of two poorly known lantern shark species based on mitochondrial DNA from wet-collection paratypes JF - Frontiers in Ecology and Evolution N2 - Etmopteridae (lantern sharks) is the most species-rich family of sharks, comprising more than 50 species. Many species are described from few individuals, and re-collection of specimens is often hindered by the remoteness of their sampling sites. For taxonomic studies, comparative morphological analysis of type specimens housed in natural history collections has been the main source of evidence. In contrast, DNA sequence information has rarely been used. Most lantern shark collection specimens, including the types, were formalin fixed before long-term storage in ethanol solutions. The DNA damage caused by both fixation and preservation of specimens has excluded these specimens from DNA sequence-based phylogenetic analyses so far. However, recent advances in the field of ancient DNA have allowed recovery of wet-collection specimen DNA sequence data. Here we analyse archival mitochondrial DNA sequences, obtained using ancient DNA approaches, of two wet-collection lantern shark paratype specimens, namely Etmopterus litvinovi and E. pycnolepis, for which the type series represent the only known individuals. Target capture of mitochondrial markers from single-stranded DNA libraries allows for phylogenetic placement of both species. Our results suggest synonymy of E. benchleyi with E. litvinovi but support the species status of E. pycnolepis. This revised taxonomy is helpful for future conservation and management efforts, as our results indicate a larger distribution range of E. litvinovi. This study further demonstrates the importance of wet-collection type specimens as genetic resource for taxonomic research. KW - type specimens KW - Etmopterus litvinovi KW - Etmopterus pycnolepis KW - deep-sea KW - sharks KW - archival DNA Y1 - 2022 U6 - https://doi.org/10.3389/fevo.2022.910009 SN - 2296-701X VL - 10 PB - Frontiers Media CY - Lausanne ER -