Refine
Year of publication
Document Type
- Article (32)
- Postprint (8)
- Other (2)
- Conference Proceeding (1)
- Review (1)
Is part of the Bibliography
- yes (44)
Keywords
- Climate change (3)
- ancient DNA (3)
- permafrost (3)
- thermokarst (3)
- Arctic lakes (2)
- drained lake basins (2)
- lake drainage (2)
- permafrost regions (2)
- thermokarst lakes (2)
- Alaska (1)
Institute
- Institut für Geowissenschaften (17)
- Institut für Biochemie und Biologie (13)
- Mathematisch-Naturwissenschaftliche Fakultät (4)
- Extern (3)
- Institut für Physik und Astronomie (2)
- Department Psychologie (1)
- Hasso-Plattner-Institut für Digital Engineering GmbH (1)
- Institut für Chemie (1)
- Institut für Ernährungswissenschaft (1)
- Institut für Informatik und Computational Science (1)
Myriapods (e. g., centipedes and millipedes) display a simple homonomous body plan relative to other arthropods. All members of the class are terrestrial, but they attained terrestriality independently of insects. Myriapoda is the only arthropod class not represented by a sequenced genome. We present an analysis of the genome of the centipede Strigamia maritima. It retains a compact genome that has undergone less gene loss and shuffling than previously sequenced arthropods, and many orthologues of genes conserved from the bilaterian ancestor that have been lost in insects. Our analysis locates many genes in conserved macro-synteny contexts, and many small-scale examples of gene clustering. We describe several examples where S. maritima shows different solutions from insects to similar problems. The insect olfactory receptor gene family is absent from S. maritima, and olfaction in air is likely effected by expansion of other receptor gene families. For some genes S. maritima has evolved paralogues to generate coding sequence diversity, where insects use alternate splicing. This is most striking for the Dscam gene, which in Drosophila generates more than 100,000 alternate splice forms, but in S. maritima is encoded by over 100 paralogues. We see an intriguing linkage between the absence of any known photosensory proteins in a blind organism and the additional absence of canonical circadian clock genes. The phylogenetic position of myriapods allows us to identify where in arthropod phylogeny several particular molecular mechanisms and traits emerged. For example, we conclude that juvenile hormone signalling evolved with the emergence of the exoskeleton in the arthropods and that RR-1 containing cuticle proteins evolved in the lineage leading to Mandibulata. We also identify when various gene expansions and losses occurred. The genome of S. maritima offers us a unique glimpse into the ancestral arthropod genome, while also displaying many adaptations to its specific life history.
ecoAO
(2017)
Although aldehyde oxidase (AO) is an important hepatic drug-metabolizing enzyme, it remains understudied and is consequently often overlooked in preclinical studies, an oversight that has resulted in the failure of multiple clinical trials. AO’s preclusion to investigation stems from the following: (1) difficulties synthesizing metabolic standards due to the chemospecificity and regiospecificity of the enzyme and (2) significant inherent variability across existing in vitro systems including liver cytosol, S9 fractions, and primary hepatocytes, which lack specificity and generate discordant expression and activity profiles. Here, we describe a practical bacterial biotransformation system, ecoAO, addressing both issues simultaneously. ecoAO is a cell paste of MoCo-producing Escherichia coli strain TP1017 expressing human AO. It exhibits specific activity toward known substrates, zoniporide, 4-trans-(N,N-dimethylamino)cinnamaldehyde, O6-benzylguanine, and zaleplon; it also has utility as a biocatalyst, yielding milligram quantities of synthetically challenging metabolite standards such as 2-oxo-zoniporide. Moreover, ecoAO enables routine determination of kcat and V/K, which are essential parameters for accurate in vivo clearance predictions. Furthermore, ecoAO has potential as a preclinical in vitro screening tool for AO activity, as demonstrated by its metabolism of 3-aminoquinoline, a previously uncharacterized substrate. ecoAO promises to provide easy access to metabolites with the potential to improve pharmacokinetic clearance predictions and guide drug development.
Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.
Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother-child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P< 5 x 10(-8). In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights.
Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother–child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P < 5 Â 10 À8 . In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights.
The Stardust mission returned cometary, interplanetary and (probably) interstellar dust in 2006 to Earth that have been analysed in Earth laboratories worldwide. Results of this mission have changed our view and knowledge on the early solar nebula. The Rosetta mission is on its way to land on comet 67P/Churyumov-Gerasimenko and will investigate for the first time in great detail the comet nucleus and its environment starting in 2014. Additional astronomy and planetary space missions will further contribute to our understanding of dust generation, evolution and destruction in interstellar and interplanetary space and provide constraints on solar system formation and processes that led to the origin of life on Earth. One of these missions, SARIM-PLUS, will provide a unique perspective by measuring interplanetary and interstellar dust with high accuracy and sensitivity in our inner solar system between 1 and 2 AU. SARIM-PLUS employs latest in-situ techniques for a full characterisation of individual micrometeoroids (flux, mass, charge, trajectory, composition()) and collects and returns these samples to Earth for a detailed analysis. The opportunity to visit again the target comet of the Rosetta mission 67P/Churyumov-Gerasimeenternko, and to investigate its dusty environment six years after Rosetta with complementary methods is unique and strongly enhances and supports the scientific exploration of this target and the entire Rosetta mission. Launch opportunities are in 2020 with a backup window starting early 2026. The comet encounter occurs in September 2021 and the reentry takes place in early 2024. An encounter speed of 6 km/s ensures comparable results to the Stardust mission.
Coccolithophores have influenced the global climate for over 200 million years(1). These marine phytoplankton can account for 20 per cent of total carbon fixation in some systems(2). They form blooms that can occupy hundreds of thousands of square kilometres and are distinguished by their elegantly sculpted calcium carbonate exoskeletons (coccoliths), rendering them visible from space(3). Although coccolithophores export carbon in the form of organic matter and calcite to the sea floor, they also release CO2 in the calcification process. Hence, they have a complex influence on the carbon cycle, driving either CO2 production or uptake, sequestration and export to the deep ocean(4). Here we report the first haptophyte reference genome, from the coccolithophore Emiliania huxleyi strain CCMP1516, and sequences from 13 additional isolates. Our analyses reveal a pan genome (core genes plus genes distributed variably between strains) probably supported by an atypical complement of repetitive sequence in the genome. Comparisons across strains demonstrate that E. huxleyi, which has long been considered a single species, harbours extensive genome variability reflected in different metabolic repertoires. Genome variability within this species complex seems to underpin its capacity both to thrive in habitats ranging from the equator to the subarctic and to form large-scale episodic blooms under a wide variety of environmental conditions.
Arctic lakes located in permafrost regions are susceptible to catastrophic drainage. In this study, we reconstructed historical lake drainage events on the western Arctic Coastal Plain of Alaska between 1955 and 2017 using USGS topographic maps, historical aerial photography (1955), and Landsat Imagery (ca. 1975, ca. 2000, and annually since 2000). We identified 98 lakes larger than 10 ha that partially (>25% of area) or completely drained during the 62-year period. Decadal-scale lake drainage rates progressively declined from 2.0 lakes/yr (1955-1975), to 1.6 lakes/yr (1975-2000), and to 1.2 lakes/yr (2000-2017) in the ~30,000-km(2) study area. Detailed Landsat trend analysis between 2000 and 2017 identified two years, 2004 and 2006, with a cluster (five or more) of lake drainages probably associated with bank overtopping or headward erosion. To identify future potential lake drainages, we combined the historical lake drainage observations with a geospatial dataset describing lake elevation, hydrologic connectivity, and adjacent lake margin topographic gradients developed with a 5-m-resolution digital surface model. We identified ~1900 lakes likely to be prone to drainage in the future. Of the 20 lakes that drained in the most recent study period, 85% were identified in this future lake drainage potential dataset. Our assessment of historical lake drainage magnitude, mechanisms and pathways, and identification of potential future lake drainages provides insights into how arctic lowland landscapes may change and evolve in the coming decades to centuries.
Arctic lakes located in permafrost regions are susceptible to catastrophic drainage. In this study, we reconstructed historical lake drainage events on the western Arctic Coastal Plain of Alaska between 1955 and 2017 using USGS topographic maps, historical aerial photography (1955), and Landsat Imagery (ca. 1975, ca. 2000, and annually since 2000). We identified 98 lakes larger than 10 ha that partially (>25% of area) or completely drained during the 62-year period. Decadal-scale lake drainage rates progressively declined from 2.0 lakes/yr (1955-1975), to 1.6 lakes/yr (1975-2000), and to 1.2 lakes/yr (2000-2017) in the ~30,000-km(2) study area. Detailed Landsat trend analysis between 2000 and 2017 identified two years, 2004 and 2006, with a cluster (five or more) of lake drainages probably associated with bank overtopping or headward erosion. To identify future potential lake drainages, we combined the historical lake drainage observations with a geospatial dataset describing lake elevation, hydrologic connectivity, and adjacent lake margin topographic gradients developed with a 5-m-resolution digital surface model. We identified ~1900 lakes likely to be prone to drainage in the future. Of the 20 lakes that drained in the most recent study period, 85% were identified in this future lake drainage potential dataset. Our assessment of historical lake drainage magnitude, mechanisms and pathways, and identification of potential future lake drainages provides insights into how arctic lowland landscapes may change and evolve in the coming decades to centuries.
The formation, growth and drainage of lakes in Arctic and boreal lowland permafrost regions influence landscape and ecosystem processes. These lake and drained lake basin (L-DLB) systems occupy >20% of the circumpolar Northern Hemisphere permafrost region and similar to 50% of the area below 300 m above sea level. Climate change is causing drastic impacts to L-DLB systems, with implications for permafrost dynamics, ecosystem functioning, biogeochemical processes and human livelihoods in lowland permafrost regions. In this Review, we discuss how an increase in the number of lakes as a result of permafrost thaw and an intensifying hydrologic regime are not currently offsetting the land area gained through lake drainage, enhancing the dominance of drained lake basins (DLBs).The contemporary transition from lakes to DLBs decreases hydrologic storage, leads to permafrost aggradation, increases carbon sequestration and diversifies the shifting habitat mosaic in Arctic and boreal regions. However, further warming could inhibit permafrost aggradation in DLBs, disrupting the trajectory of important microtopographic controls on carbon fluxes and ecosystem processes in permafrost-region L-DLB systems. Further research is needed to understand the future dynamics of L-DLB systems to improve Earth system models, permafrost carbon feedback assessments, permafrost hydrology linkages, infrastructure development in permafrost regions and the well-being of northern socio-ecological systems.
Arctic coasts are vulnerable to the effects of climate change, including rising sea levels and the loss of permafrost, sea ice and glaciers. Assessing the influence of anthropogenic warming on Arctic coastal dynamics, however, is challenged by the limited availability of observational, oceanographic and environmental data. Yet, with the majority of permafrost coasts being erosive, coupled with projected intensification of erosion and flooding, understanding these changes is critical. In this Review, we describe the morphological diversity of Arctic coasts, discuss important drivers of coastal change, explain the specific sensitivity of Arctic coasts to climate change and provide an overview of pan-Arctic shoreline change and its multifaceted impacts. Arctic coastal changes impact the human environment by threatening coastal settlements, infrastructure, cultural sites and archaeological remains. Changing sediment fluxes also impact the natural environment through carbon, nutrient and pollutant release on a magnitude that remains difficult to predict. Increasing transdisciplinary and interdisciplinary collaboration efforts will build the foundation for identifying sustainable solutions and adaptation strategies to reduce future risks for those living on, working at and visiting the rapidly changing Arctic coast.
Thermokarst lakes are prevalent in Arctic coastal lowland regions and sublake permafrost degradation and talik development contributes to greenhouse gas emissions by tapping the large permafrost carbon pool. Whereas lateral thermokarst lake expansion is readily apparent through remote sensing and shoreline measurements, sublake thawed sediment conditions and talik growth are difficult to measure. Here we combine transient electromagnetic surveys with thermal modeling, backed up by measured permafrost properties and radiocarbon ages, to reveal closed-talik geometry associated with a thermokarst lake in continuous permafrost. To improve access to talik geometry data, we conducted surveys along three transient electromagnetic transects perpendicular to lakeshores with different decadal-scale expansion rates of 0.16, 0.38, and 0.58m/year. We modeled thermal development of the talik using boundary conditions based on field data from the lake, surrounding permafrost and a borehole, independent of the transient electromagnetics. A talik depth of 91m was determined from analysis of the transient electromagnetic surveys. Using a lake initiation age of 1400years before present and available subsurface properties the results from thermal modeling of the lake center arrived at a best estimate talk depth of 80m, which is on the same order of magnitude as the results from the transient electromagnetic survey. Our approach has provided a noninvasive estimate of talik geometry suitable for comparable settings throughout circum-Arctic coastal lowland regions.
Glacial-interglacial variations in CO2 and methane in polar ice cores have been attributed, in part, to changes in global wetland extent, but the wetland distribution before the Last Glacial Maximum (LGM, 21 ka to 18 ka) remains virtually unknown. We present a study of global peatland extent and carbon (C) stocks through the last glacial cycle (130 ka to present) using a newly compiled database of 1,063 detailed stratigraphic records of peat deposits buried by mineral sediments, as well as a global peatland model. Quantitative agreement between modeling and observations shows extensive peat accumulation before the LGM in northern latitudes (> 40 degrees N), particularly during warmer periods including the last interglacial (130 ka to 116 ka, MIS 5e) and the interstadial (57 ka to 29 ka, MIS 3). During cooling periods of glacial advance and permafrost formation, the burial of northern peatlands by glaciers and mineral sediments decreased active peatland extent, thickness, and modeled C stocks by 70 to 90% from warmer times. Tropical peatland extent and C stocks show little temporal variation throughout the study period. While the increased burial of northern peats was correlated with cooling periods, the burial of tropical peat was predominately driven by changes in sea level and regional hydrology. Peat burial by mineral sediments represents a mechanism for long-term terrestrial C storage in the Earth system. These results show that northern peatlands accumulate significant C stocks during warmer times, indicating their potential for C sequestration during the warming Anthropocene.
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.
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.
Permafrost-related processes drive regional landscape dynamics in the Arctic terrestrial system. A better understanding of past periods indicative of permafrost degradation and aggradation is important for predicting the future response of Arctic landscapes to climate change. Here, we used a multi-proxy approach to analyse a4m long sediment core from a drained thermokarst lake basin on the northern Seward Peninsula in western Arctic Alaska (USA). Sedimentological, biogeochemical, geochronological, micropalaeontological (ostracoda, testate amoebae) and tephra analyses were used to determine the long-term environmental Early-Wisconsin to Holocene history preserved in our core for central Beringia. Yedoma accumulation dominated throughout the Early to Late-Wisconsin but was interrupted by wetland formation from 44.5 to 41.5ka BP. The latter was terminated by the deposition of 1m of volcanic tephra, most likely originating from the South Killeak Maar eruption at about 42ka BP. Yedoma deposition continued until 22.5ka BP and was followed by a depositional hiatus in the sediment core between 22.5 and 0.23ka BP. We interpret this hiatus as due to intense thermokarst activity in the areas surrounding the site, which served as a sediment source during the Late-Wisconsin to Holocene climate transition. The lake forming the modern basin on the upland initiated around 0.23ka BP and drained catastrophically in spring 2005. The present study emphasises that Arctic lake systems and periglacial landscapes are highly dynamic and that permafrost formation as well as degradation in central Beringia was controlled by regional to global climate patterns as well as by local disturbances. Copyright (c) 2015 John Wiley & Sons, Ltd.
PX-Liganden mit maximaler Elektronendonorfähigkeit, 7 : die Dreikomponenenreaktion von P4-Phosphor
(1995)
Local observations indicate that climate change and shifting disturbance regimes are causing permafrost degradation. However, the occurrence and distribution of permafrost region disturbances (PRDs) remain poorly resolved across the Arctic and Subarctic. Here we quantify the abundance and distribution of three primary PRDs using time-series analysis of 30-m resolution Landsat imagery from 1999 to 2014. Our dataset spans four continental-scale transects in North America and Eurasia, covering similar to 10% of the permafrost region. Lake area loss (-1.45%) dominated the study domain with enhanced losses occurring at the boundary between discontinuous and continuous permafrost regions. Fires were the most extensive PRD across boreal regions (6.59%), but in tundra regions (0.63%) limited to Alaska. Retrogressive thaw slumps were abundant but highly localized (< 10(-5)%). Our analysis synergizes the global-scale importance of PRDs. The findings highlight the need to include PRDs in next-generation land surface models to project the permafrost carbon feedback.
Tundra be dammed
(2018)
Increasing air temperatures are changing the arctic tundra biome. Permafrost is thawing, snow duration is decreasing, shrub vegetation is proliferating, and boreal wildlife is encroaching. Here we present evidence of the recent range expansion of North American beaver (Castor canadensis) into the Arctic, and consider how this ecosystem engineer might reshape the landscape, biodiversity, and ecosystem processes. We developed a remote sensing approach that maps formation and disappearance of ponds associated with beaver activity. Since 1999, 56 new beaver pond complexes were identified, indicating that beavers are colonizing a predominantly tundra region (18,293km(2)) of northwest Alaska. It is unclear how improved tundra stream habitat, population rebound following overtrapping for furs, or other factors are contributing to beaver range expansion. We discuss rates and likely routes of tundra beaver colonization, as well as effects on permafrost, stream ice regimes, and freshwater and riparian habitat. Beaver ponds and associated hydrologic changes are thawing permafrost. Pond formation increases winter water temperatures in the pond and downstream, likely creating new and more varied aquatic habitat, but specific biological implications are unknown. Beavers create dynamic wetlands and are agents of disturbance that may enhance ecosystem responses to warming in the Arctic.
KEYCIT 2014
(2015)
In our rapidly changing world it is increasingly important not only to be an expert in a chosen field of study but also to be able to respond to developments, master new approaches to solving problems, and fulfil changing requirements in the modern world and in the job market. In response to these needs key competencies in understanding, developing and using new digital technologies are being brought into focus in school and university programmes. The IFIP TC3 conference "KEYCIT – Key Competences in Informatics and ICT (KEYCIT 2014)" was held at the University of Potsdam in Germany from July 1st to 4th, 2014 and addressed the combination of key competencies, Informatics and ICT in detail. The conference was organized into strands focusing on secondary education, university education and teacher education (organized by IFIP WGs 3.1 and 3.3) and provided a forum to present and to discuss research, case studies, positions, and national perspectives in this field.
The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world(1). Here we describe the release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants (of which around 98.6% have a frequency of less than 1%). The data include 198,269 autosomal predicted loss-of-function (LOF) variants, a more than 14-fold increase compared to the imputed sequence. Nearly all genes (more than 97%) had at least one carrier with a LOF variant, and most genes (more than 69%) had at least ten carriers with a LOF variant. We illustrate the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes. In addition to replicating established associations, we found novel LOF variants with large effects on disease traits, includingPIEZO1on varicose veins,COL6A1on corneal resistance,MEPEon bone density, andIQGAP2andGMPRon blood cell traits. We further demonstrate the value of exome sequencing by surveying the prevalence of pathogenic variants of clinical importance, and show that 2% of this population has a medically actionable variant. Furthermore, we characterize the penetrance of cancer in carriers of pathogenicBRCA1andBRCA2variants. Exome sequences from the first 49,960 participants highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community. <br /> Exome sequences from the first 49,960 participants in the UK Biobank highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community.
Lakes are dominant and diverse landscape features in the Arctic, but conventional land cover classification schemes typically map them as a single uniform class. Here, we present a detailed lake-centric geospatial database for an Arctic watershed in northern Alaska. We developed a GIS dataset consisting of 4362 lakes that provides information on lake morphometry, hydrologic connectivity, surface area dynamics, surrounding terrestrial ecotypes, and other important conditions describing Arctic lakes. Analyzing the geospatial database relative to fish and bird survey data shows relations to lake depth and hydrologic connectivity, which are being used to guide research and aid in the management of aquatic resources in the National Petroleum Reserve in Alaska. Further development of similar geospatial databases is needed to better understand and plan for the impacts of ongoing climate and land-use changes occurring across lake-rich landscapes in the Arctic.
Arctic lowlands are characterized by large numbers of small waterbodies, which are known to affect surface energy budgets and the global carbon cycle. Statistical analysis of their size distributions has been hindered by the shortage of observations at sufficiently high spatial resolutions. This situation has now changed with the high-resolution (<5 m) circum-Arctic Permafrost Region Pond and Lake (PeRL) database recently becoming available. We have used this database to make the first consistent, high-resolution estimation of Arctic waterbody size distributions, with surface areas ranging from 0.0001 km(2) (100 m(2)) to 1 km(2). We found that the size distributions varied greatly across the thirty study regions investigated and that there was no single universal size distribution function (including power-law distribution functions) appropriate across all of the study regions. We did, however, find close relationships between the statistical moments (mean, variance, and skewness) of the waterbody size distributions from different study regions. Specifically, we found that the spatial variance increased linearly with mean waterbody size (R-2 = 0.97, p < 2.2e-16) and that the skewness decreased approximately hyperbolically. We have demonstrated that these relationships (1) hold across the 30 Arctic study regions covering a variety of (bio)climatic and permafrost zones, (2) hold over time in two of these study regions for which multi-decadal satellite imagery is available, and (3) can be reproduced by simulating rising water levels in a high-resolution digital elevation model. The consistent spatial and temporal relationships between the statistical moments of the waterbody size distributions underscore the dominance of topographic controls in lowland permafrost areas. These results provide motivation for further analyses of the factors involved in waterbody development and spatial distribution and for investigations into the possibility of using statistical moments to predict future hydrologic dynamics in the Arctic.
Local observations indicate that climate change and shifting disturbance regimes are causing permafrost degradation. However, the occurrence and distribution of permafrost region disturbances (PRDs) remain poorly resolved across the Arctic and Subarctic. Here we quantify the abundance and distribution of three primary PRDs using time-series analysis of 30-m resolution Landsat imagery from 1999 to 2014. Our dataset spans four continental-scale transects in North America and Eurasia, covering ~10% of the permafrost region. Lake area loss (−1.45%) dominated the study domain with enhanced losses occurring at the boundary between discontinuous and continuous permafrost regions. Fires were the most extensive PRD across boreal regions (6.59%), but in tundra regions (0.63%) limited to Alaska. Retrogressive thaw slumps were abundant but highly localized (<10−5%). Our analysis synergizes the global-scale importance of PRDs. The findings highlight the need to include PRDs in next-generation land surface models to project the permafrost carbon feedback.
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.
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.
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.
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.
Permafrost degradation influences the morphology, biogeochemical cycling and hydrology of Arctic landscapes over a range of time scales. To reconstruct temporal patterns of early to late Holocene permafrost and thermokarst dynamics, site-specific palaeo-records are needed. Here we present a multi-proxy study of a 350-cm-long permafrost core from a drained lake basin on the northern Seward Peninsula, Alaska, revealing Lateglacial toHolocene thermokarst lake dynamics in a central location of Beringia. Use of radiocarbon dating, micropalaeontology (ostracods and testaceans), sedimentology (grain-size analyses, magnetic susceptibility, tephra analyses), geochemistry (total nitrogen and carbon, total organic carbon, C-13(org)) and stable water isotopes (O-18, D, dexcess) of ground ice allowed the reconstruction of several distinct thermokarst lake phases. These include a pre-lacustrine environment at the base of the core characterized by the Devil Mountain Maar tephra (22800 +/- 280cal. a BP, Unit A), which has vertically subsided in places due to subsequent development of a deep thermokarst lake that initiated around 11800cal. a BP (Unit B). At about 9000cal. a BP this lake transitioned from a stable depositional environment to a very dynamic lake system (Unit C) characterized by fluctuating lake levels, potentially intermediate wetland development, and expansion and erosion of shore deposits. Complete drainage of this lake occurred at 1060cal. a BP, including post-drainage sediment freezing from the top down to 154cm and gradual accumulation of terrestrial peat (Unit D), as well as uniform upward talik refreezing. This core-based reconstruction of multiple thermokarst lake generations since 11800cal. a BP improves our understanding of the temporal scales of thermokarst lake development from initiation to drainage, demonstrates complex landscape evolution in the ice-rich permafrost regions of Central Beringia during the Lateglacial and Holocene, and enhances our understanding of biogeochemical cycles in thermokarst-affected regions of the Arctic.
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.
Lakes are a ubiquitous landscape feature in northern permafrost regions. They have a strong impact on carbon, energy and water fluxes and can be quite responsive to climate change. The monitoring of lake change in northern high latitudes, at a sufficiently accurate spatial and temporal resolution, is crucial for understanding the underlying processes driving lake change. To date, lake change studies in permafrost regions were based on a variety of different sources, image acquisition periods and single snapshots, and localized analysis, which hinders the comparison of different regions. Here, we present a methodology based on machine-learning based classification of robust trends of multi-spectral indices of Landsat data (TM, ETM+, OLI) and object-based lake detection, to analyze and compare the individual, local and regional lake dynamics of four different study sites (Alaska North Slope, Western Alaska, Central Yakutia, Kolyma Lowland) in the northern permafrost zone from 1999 to 2014. Regional patterns of lake area change on the Alaska North Slope (-0.69%), Western Alaska (-2.82%), and Kolyma Lowland (-0.51%) largely include increases due to thermokarst lake expansion, but more dominant lake area losses due to catastrophic lake drainage events. In contrast, Central Yakutia showed a remarkable increase in lake area of 48.48%, likely resulting from warmer and wetter climate conditions over the latter half of the study period. Within all study regions, variability in lake dynamics was associated with differences in permafrost characteristics, landscape position (i.e., upland vs. lowland), and surface geology. With the global availability of Landsat data and a consistent methodology for processing the input data derived from robust trends of multi-spectral indices, we demonstrate a transferability, scalability and consistency of lake change analysis within the northern permafrost region.
The Weather Research and Forecasting (WRF) model is used to simulate the spatiotemporal distribution of precipitation over central Asia over the year April 2005 through March 2006. Experiments are performed at 6.7 km horizontal grid spacing, with an emphasis on winter and summer precipitation over the Himalaya. The model and the Tropical Rainfall Measuring Mission show a similar inter-seasonal cycle of precipitation, from extratropical cyclones to monsoon precipitation, with agreement also in the diurnal cycle of monsoon precipitation. In winter months, WRF compares better in timeseries of daily precipitation to stations below than above 3-km elevation, likely due to inferior measurement of snow than rain by the stations, highlighting the need for reliable snowfall measurements at high elevations in winter. In summer months, the nocturnal precipitation cycle in the foothills and valleys of the Himalaya is captured by this 6.7-km WRF simulation, while coarser simulations with convective parameterization show near zero nocturnal precipitation. In winter months, higher resolution is less important, serving only to slightly increase precipitation magnitudes due to steeper slopes. However, even in the 6.7-km simulation, afternoon precipitation is overestimated at high elevations, which can be reduced by even higher-resolution (2.2-km) simulations. These results indicate that WRF provides skillful simulations of precipitation relevant for studies of water resources over the complex terrain in the Himalaya.
Effects of topographic smoothing on the simulation of winter precipitation in High Mountain Asia
(2017)
Numerous studies have projected future changes in High Mountain Asia water resources based on temperature and precipitation from global circulation models (GCMs) under future climate scenarios. Although the potential benefit of such studies is immense, coarse grid-scale GCMs are unable to resolve High Mountain Asia's complex topography and thus have a biased representation of regional weather and climate. This study investigates biases in the simulation of physical mechanisms that generate snowfall and contribute to snowpack in High Mountain Asia in coarse topography experiments using the Weather Research and Forecasting model. Regional snowpack is event driven, thus 33 extreme winter orographic precipitation events are simulated at fine atmospheric resolution with 6.67 km resolution topography and smoothed 1.85° × 1.25° GCM topography. As with many modified topography experiments performed in other regions, the distribution of precipitation is highly dependent on first-order orographic effects, which dominate regional meteorology. However, we demonstrate that topographic smoothing enhances circulation in simulated extratropical cyclones, with significant impacts on orographic precipitation. Despite precipitation reductions of 28% over the highest ranges, due to reduced ascent on windward slopes, total precipitation over the study domain increased by an average of 9% in smoothed topography experiments on account of intensified extratropical cyclone dynamics and cross-barrier moisture flux. These findings identify an important source of bias in coarse-resolution simulated precipitation in High Mountain Asia, with important implications for the application of GCMs toward projecting future hydroclimate in the region.
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.
Thermokarst lake landscapes are permafrost regions, which are prone to rapid (on seasonal to decadal time scales) changes, affecting carbon and nitrogen cycles. However, there is a high degree of uncertainty related to the balance between carbon and nitrogen cycling and storage. We collected 12 permafrost soil cores from six drained thermokarst lake basins (DTLBs) along a chronosequence north of Teshekpuk Lake in northern Alaska and analyzed them for carbon and nitrogen contents. For comparison, we included three lacustrine cores from an adjacent thermokarst lake and one soil core from a non thermokarst affected remnant upland. This allowed to calculate the carbon and nitrogen stocks of the three primary landscape units (DTLB, lake, and upland), to reconstruct the landscape history, and to analyze the effect of thermokarst lake formation and drainage on carbon and nitrogen stocks. We show that carbon and nitrogen contents and the carbon-nitrogen ratio are considerably lower in sediments of extant lakes than in the DTLB or upland cores indicating degradation of carbon during thermokarst lake formation. However, we found similar amounts of total carbon and nitrogen stocks due to the higher density of lacustrine sediments caused by the lack of ground ice compared to DTLB sediments. In addition, the radiocarbon-based landscape chronology for the past 7,000years reveals five successive lake stages of partially, spatially overlapping DTLBs in the study region, reflecting the dynamic nature of ice-rich permafrost deposits. With this study, we highlight the importance to include these dynamic landscapes in future permafrost carbon feedback models. Plain Language Summary When permanently frozen soils (permafrost) contain ice-rich sediments, the thawing of this permafrost causes the surface to sink, which may result in lake formation. This process, the thaw of ice-rich permafrost and melting of ground ice leads to characteristic landforms-known as thermokarst. Once such a thaw process is initiated in ice-rich sediments, a thaw lake forms and grows by shoreline erosion, eventually expanding until a drainage pathway is encountered and the lake eventually drains, resulting in a drained thermokarst lake basin. In our study, we show that such a thermokarst-affected landscape north of Teshekpuk Lake in northern Alaska is shaped by repeated thaw lake formation and lake drainage events during the past 7,000years, highlighting the dynamic nature of these landscapes. These landscape-scale processes have a big effect on the carbon and nitrogen stored in permafrost soils. We show that large amounts of carbon (>45kg C/m(2)) and nitrogen (>2.6kg N/m(2)) are stored in unfrozen lake sediments and in frozen soil sediments. The findings are important when considering the potential effect that permafrost thaw has for the global climate through releasing carbon and nitrogen, which was frozen and therefore locked away for millennia, from the active carbon cycle.
In organic solar cells, the resulting device efficiency depends strongly on the local morphology and intermolecular interactions of the blend film. Optical spectroscopy was used to identify the spectral signatures of interacting chromophores in blend films of the donor polymer PM6 with two state-of-the-art nonfullerene acceptors, Y6 and N4, which differ merely in the branching point of the side chain. From temperature-dependent absorption and luminescence spectroscopy in solution, it is inferred that both acceptor materials form two types of aggregates that differ in their interaction energy. Y6 forms an aggregate with a predominant J-type character in solution, while for N4 molecules the interaction is predominantly in a H-like manner in solution and freshly spin-cast film, yet the molecules reorient with respect to each other with time or thermal annealing to adopt a more J-type interaction. The different aggregation behavior of the acceptor materials is also reflected in the blend films and accounts for the different solar cell efficiencies reported with the two blends.
Compared to the well-studied open water of the "growing" season, under-ice conditions in lakes are characterized by low and rather constant temperature, slow water movements, limited light availability, and reduced exchange with the surrounding landscape. These conditions interact with ice-cover duration to shape microbial processes in temperate lakes and ultimately influence the phenology of community and ecosystem processes. We review the current knowledge on microorganisms in seasonally frozen lakes. Specifically, we highlight how under-ice conditions alter lake physics and the ways that this can affect the distribution and metabolism of auto-and heterotrophic microorganisms. We identify functional traits that we hypothesize are important for understanding under-ice dynamics and discuss how these traits influence species interactions. As ice coverage duration has already been seen to reduce as air temperatures have warmed, the dynamics of the under-ice microbiome are important for understanding and predicting the dynamics and functioning of seasonally frozen lakes in the near future.
Saturn’s main ring system is associated with a set of small moons that either are embedded within it or interact with the rings to alter their shape and composition. Five close flybys of the moons Pan, Daphnis, Atlas, Pandora, and Epimetheus were performed between December 2016 and April 2017 during the ring-grazing orbits of the Cassini mission. Data on the moons’ morphology, structure, particle environment, and composition were returned, along with images in the ultraviolet and thermal infrared. We find that the optical properties of the moons’ surfaces are determined by two competing processes: contamination by a red material formed in Saturn’s main ring system and accretion of bright icy particles or water vapor from volcanic plumes originating on the moon Enceladus.
Sea level rise and coastal erosion have inundated large areas of Arctic permafrost. Submergence by warm and saline waters increases the rate of inundated permafrost thaw compared to sub-aerial thawing on land. Studying the contact between the unfrozen and frozen sediments below the seabed, also known as the ice-bearing permafrost table (IBPT), provides valuable information to understand the evolution of sub-aquatic permafrost, which is key to improving and understanding coastal erosion prediction models and potential greenhouse gas emissions. In this study, we use data from 2D electrical resistivity tomography (ERT) collected in the nearshore coastal zone of two Arctic regions that differ in their environmental conditions (e.g., seawater depth and resistivity) to image and study the subsea permafrost. The inversion of 2D ERT data sets is commonly performed using deterministic approaches that favor smoothed solutions, which are typically interpreted using a user-specified resistivity threshold to identify the IBPT position. In contrast, to target the IBPT position directly during inversion, we use a layer-based model parameterization and a global optimization approach to invert our ERT data. This approach results in ensembles of layered 2D model solutions, which we use to identify the IBPT and estimate the resistivity of the unfrozen and frozen sediments, including estimates of uncertainties. Additionally, we globally invert 1D synthetic resistivity data and perform sensitivity analyses to study, in a simpler way, the correlations and influences of our model parameters. The set of methods provided in this study may help to further exploit ERT data collected in such permafrost environments as well as for the design of future field experiments.
Sea level rise and coastal erosion have inundated large areas of Arctic permafrost. Submergence by warm and saline waters increases the rate of inundated permafrost thaw compared to sub-aerial thawing on land. Studying the contact between the unfrozen and frozen sediments below the seabed, also known as the ice-bearing permafrost table (IBPT), provides valuable information to understand the evolution of sub-aquatic permafrost, which is key to improving and understanding coastal erosion prediction models and potential greenhouse gas emissions. In this study, we use data from 2D electrical resistivity tomography (ERT) collected in the nearshore coastal zone of two Arctic regions that differ in their environmental conditions (e.g., seawater depth and resistivity) to image and study the subsea permafrost. The inversion of 2D ERT data sets is commonly performed using deterministic approaches that favor smoothed solutions, which are typically interpreted using a user-specified resistivity threshold to identify the IBPT position. In contrast, to target the IBPT position directly during inversion, we use a layer-based model parameterization and a global optimization approach to invert our ERT data. This approach results in ensembles of layered 2D model solutions, which we use to identify the IBPT and estimate the resistivity of the unfrozen and frozen sediments, including estimates of uncertainties. Additionally, we globally invert 1D synthetic resistivity data and perform sensitivity analyses to study, in a simpler way, the correlations and influences of our model parameters. The set of methods provided in this study may help to further exploit ERT data collected in such permafrost environments as well as for the design of future field experiments.
The global warming potential of nitrous oxide (N2O) and its long atmospheric lifetime mean its presence in the atmosphere is of major concern, and that methods are required to measure and reduce emissions. Large spatial and temporal variations means, however, that simple extrapolation of measured data is inappropriate, and that other methods of quantification are required. Although process-based models have been developed to simulate these emissions, they often require a large amount of input data that is not available at a regional scale, making regional and global emission estimates difficult to achieve. The spatial extent of organic soils means that quantification of emissions from these soil types is also required, but will not be achievable using a process-based model that has not been developed to simulate soil water contents above field capacity or organic soils. The ECOSSE model was developed to overcome these limitations, and with a requirement for only input data that is readily available at a regional scale, it can be used to quantify regional emissions and directly inform land-use change decisions. ECOSSE includes the major processes of nitrogen (N) turnover, with material being exchanged between pools of SOM at rates modified by temperature, soil moisture, soil pH and crop cover. Evaluation of its performance at site-scale is presented to demonstrate its ability to adequately simulate soil N contents and N2O emissions from cropland soils in Europe. Mitigation scenarios and sensitivity analyses are also presented to demonstrate how ECOSSE can be used to estimate the impact of future climate and land-use change on N2O emissions.