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  • 1
    Publication Date: 2014-12-31
    Description: The domestication of the horse ∼5.5 kya and the emergence of mounted riding, chariotry, and cavalry dramatically transformed human civilization. However, the genetics underlying horse domestication are difficult to reconstruct, given the near extinction of wild horses. We therefore sequenced two ancient horse genomes from Taymyr, Russia (at 7.4- and...
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
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  • 2
    Publication Date: 2011-09-24
    Description: We present an Aboriginal Australian genomic sequence obtained from a 100-year-old lock of hair donated by an Aboriginal man from southern Western Australia in the early 20th century. We detect no evidence of European admixture and estimate contamination levels to be below 0.5%. We show that Aboriginal Australians are descendants of an early human dispersal into eastern Asia, possibly 62,000 to 75,000 years ago. This dispersal is separate from the one that gave rise to modern Asians 25,000 to 38,000 years ago. We also find evidence of gene flow between populations of the two dispersal waves prior to the divergence of Native Americans from modern Asian ancestors. Our findings support the hypothesis that present-day Aboriginal Australians descend from the earliest humans to occupy Australia, likely representing one of the oldest continuous populations outside Africa.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3991479/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3991479/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rasmussen, Morten -- Guo, Xiaosen -- Wang, Yong -- Lohmueller, Kirk E -- Rasmussen, Simon -- Albrechtsen, Anders -- Skotte, Line -- Lindgreen, Stinus -- Metspalu, Mait -- Jombart, Thibaut -- Kivisild, Toomas -- Zhai, Weiwei -- Eriksson, Anders -- Manica, Andrea -- Orlando, Ludovic -- De La Vega, Francisco M -- Tridico, Silvana -- Metspalu, Ene -- Nielsen, Kasper -- Avila-Arcos, Maria C -- Moreno-Mayar, J Victor -- Muller, Craig -- Dortch, Joe -- Gilbert, M Thomas P -- Lund, Ole -- Wesolowska, Agata -- Karmin, Monika -- Weinert, Lucy A -- Wang, Bo -- Li, Jun -- Tai, Shuaishuai -- Xiao, Fei -- Hanihara, Tsunehiko -- van Driem, George -- Jha, Aashish R -- Ricaut, Francois-Xavier -- de Knijff, Peter -- Migliano, Andrea B -- Gallego Romero, Irene -- Kristiansen, Karsten -- Lambert, David M -- Brunak, Soren -- Forster, Peter -- Brinkmann, Bernd -- Nehlich, Olaf -- Bunce, Michael -- Richards, Michael -- Gupta, Ramneek -- Bustamante, Carlos D -- Krogh, Anders -- Foley, Robert A -- Lahr, Marta M -- Balloux, Francois -- Sicheritz-Ponten, Thomas -- Villems, Richard -- Nielsen, Rasmus -- Wang, Jun -- Willerslev, Eske -- BB/H005854/1/Biotechnology and Biological Sciences Research Council/United Kingdom -- BB/H008802/1/Biotechnology and Biological Sciences Research Council/United Kingdom -- R01 HG003229/HG/NHGRI NIH HHS/ -- New York, N.Y. -- Science. 2011 Oct 7;334(6052):94-8. doi: 10.1126/science.1211177. Epub 2011 Sep 22.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Centre for GeoGenetics, Natural History Museum of Denmark, Oster Voldgade 5-7, 1350 Copenhagen, Denmark.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21940856" target="_blank"〉PubMed〈/a〉
    Keywords: African Continental Ancestry Group ; Animals ; Asia ; Asian Continental Ancestry Group/genetics ; Computer Simulation ; DNA, Mitochondrial/genetics ; Emigration and Immigration ; Ethnic Groups/genetics ; European Continental Ancestry Group/genetics ; Far East ; Gene Flow ; Gene Frequency ; Genetics, Population/methods ; *Genome, Human ; Genome, Mitochondrial ; Haplotypes ; Hominidae/genetics ; Humans ; Linkage Disequilibrium ; Male ; Oceanic Ancestry Group/*genetics ; Phylogeny ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA ; Western Australia
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 3
    Publication Date: 2014-08-30
    Description: The New World Arctic, the last region of the Americas to be populated by humans, has a relatively well-researched archaeology, but an understanding of its genetic history is lacking. We present genome-wide sequence data from ancient and present-day humans from Greenland, Arctic Canada, Alaska, Aleutian Islands, and Siberia. We show that Paleo-Eskimos (~3000 BCE to 1300 CE) represent a migration pulse into the Americas independent of both Native American and Inuit expansions. Furthermore, the genetic continuity characterizing the Paleo-Eskimo period was interrupted by the arrival of a new population, representing the ancestors of present-day Inuit, with evidence of past gene flow between these lineages. Despite periodic abandonment of major Arctic regions, a single Paleo-Eskimo metapopulation likely survived in near-isolation for more than 4000 years, only to vanish around 700 years ago.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Raghavan, Maanasa -- DeGiorgio, Michael -- Albrechtsen, Anders -- Moltke, Ida -- Skoglund, Pontus -- Korneliussen, Thorfinn S -- Gronnow, Bjarne -- Appelt, Martin -- Gullov, Hans Christian -- Friesen, T Max -- Fitzhugh, William -- Malmstrom, Helena -- Rasmussen, Simon -- Olsen, Jesper -- Melchior, Linea -- Fuller, Benjamin T -- Fahrni, Simon M -- Stafford, Thomas Jr -- Grimes, Vaughan -- Renouf, M A Priscilla -- Cybulski, Jerome -- Lynnerup, Niels -- Lahr, Marta Mirazon -- Britton, Kate -- Knecht, Rick -- Arneborg, Jette -- Metspalu, Mait -- Cornejo, Omar E -- Malaspinas, Anna-Sapfo -- Wang, Yong -- Rasmussen, Morten -- Raghavan, Vibha -- Hansen, Thomas V O -- Khusnutdinova, Elza -- Pierre, Tracey -- Dneprovsky, Kirill -- Andreasen, Claus -- Lange, Hans -- Hayes, M Geoffrey -- Coltrain, Joan -- Spitsyn, Victor A -- Gotherstrom, Anders -- Orlando, Ludovic -- Kivisild, Toomas -- Villems, Richard -- Crawford, Michael H -- Nielsen, Finn C -- Dissing, Jorgen -- Heinemeier, Jan -- Meldgaard, Morten -- Bustamante, Carlos -- O'Rourke, Dennis H -- Jakobsson, Mattias -- Gilbert, M Thomas P -- Nielsen, Rasmus -- Willerslev, Eske -- New York, N.Y. -- Science. 2014 Aug 29;345(6200):1255832. doi: 10.1126/science.1255832.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, 1350 Copenhagen, Denmark. ; Department of Biology, Pennsylvania State University, 502 Wartik Laboratory, University Park, PA 16802, USA. ; Bioinformatics Centre, Department of Biology, University of Copenhagen, Ole Maaloes Vej 5, 2200 Copenhagen, Denmark. ; Bioinformatics Centre, Department of Biology, University of Copenhagen, Ole Maaloes Vej 5, 2200 Copenhagen, Denmark. Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA. ; Department of Evolutionary Biology, Uppsala University, Norbyvagen 18D, 75236 Uppsala, Sweden. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. ; Arctic Centre at the Ethnographic Collections (SILA), National Museum of Denmark, Frederiksholms Kanal 12, 1220 Copenhagen, Denmark. ; Department of Anthropology, University of Toronto, Toronto, Ontario M5S 2S2, Canada. ; Arctic Studies Center, Post Office Box 37012, Department of Anthropology, MRC 112, National Museum of Natural History, Smithsonian Institution, Washington, DC 20013-7012, USA. ; Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, 1350 Copenhagen, Denmark. Department of Evolutionary Biology, Uppsala University, Norbyvagen 18D, 75236 Uppsala, Sweden. ; Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, Kemitorvet, 2800 Kongens Lyngby, Denmark. ; AMS 14C Dating Centre, Department of Physics and Astronomy, Aarhus University, Ny Munkegade 120, 8000 Aarhus C, Denmark. ; Anthropological Laboratory, Institute of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, Frederik V's Vej 11, 2100 Copenhagen, Denmark. ; Department of Earth System Science, University of California, Irvine, CA 92697, USA. ; Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, 1350 Copenhagen, Denmark. AMS 14C Dating Centre, Department of Physics and Astronomy, Aarhus University, Ny Munkegade 120, 8000 Aarhus C, Denmark. ; Department of Archaeology, Memorial University, Queen's College, 210 Prince Philip Drive, St. John's, Newfoundland, A1C 5S7, Canada. Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany. ; Department of Archaeology, Memorial University, Queen's College, 210 Prince Philip Drive, St. John's, Newfoundland, A1C 5S7, Canada. ; Canadian Museum of History, 100 Rue Laurier, Gatineau, Quebec K1A 0M8, Canada. Department of Anthropology, University of Western Ontario, 1151 Richmond Street North, London N6A 5C2, Canada. ; Leverhulme Centre for Human Evolutionary Studies, Department of Archaeology and Anthropology, University of Cambridge, Cambridge CB2 1QH, UK. ; Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany. Department of Archaeology, University of Aberdeen, St. Mary's Building, Elphinstone Road, Aberdeen AB24 3UF, Scotland, UK. ; Department of Archaeology, University of Aberdeen, St. Mary's Building, Elphinstone Road, Aberdeen AB24 3UF, Scotland, UK. ; National Museum of Denmark, Frederiksholms kanal 12, 1220 Copenhagen, Denmark. School of Geosciences, University of Edinburgh, Edinburgh EH8 9XP, UK. ; Estonian Biocentre, Evolutionary Biology Group, Tartu 51010, Estonia. Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia. ; Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305, USA. School of Biological Sciences, Washington State University, Post Office Box 644236, Pullman, WA 99164, USA. ; Department of Integrative Biology, University of California, Berkeley, CA 94720, USA. Ancestry.com DNA LLC, San Francisco, CA 94107, USA. ; Informatics and Bio-computing, Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, M5G 0A3, Canada. ; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark. ; Institute of Biochemistry and Genetics, Ufa Scientific Center of Russian Academy of Sciences, Ufa, Russia. Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Bashkortostan 450074, Russia. ; State Museum for Oriental Art, 12a, Nikitsky Boulevard, Moscow 119019, Russia. ; Greenland National Museum and Archives, Post Office Box 145, 3900 Nuuk, Greenland. ; Division of Endocrinology, Metabolism and Molecular Medicine, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA. Department of Anthropology, Weinberg College of Arts and Sciences, Northwestern University, Evanston, IL 60208, USA. Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA. ; Department of Anthropology, University of Utah, Salt Lake City, UT 84112, USA. ; Research Centre for Medical Genetics of Russian Academy of Medical Sciences, 1 Moskvorechie, Moscow 115478, Russia. ; Department of Archaeology and Classical Studies, Stockholm University, Stockholm, Sweden. ; Estonian Biocentre, Evolutionary Biology Group, Tartu 51010, Estonia. Department of Archaeology and Anthropology, University of Cambridge, Cambridge CB2 1QH, UK. ; Laboratory of Biological Anthropology, University of Kansas, Lawrence, KS 66045, USA. ; Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305, USA. ; Department of Evolutionary Biology, Uppsala University, Norbyvagen 18D, 75236 Uppsala, Sweden. ; Department of Integrative Biology, University of California, Berkeley, CA 94720, USA. ; Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, 1350 Copenhagen, Denmark. ewillerslev@snm.ku.dk.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25170159" target="_blank"〉PubMed〈/a〉
    Keywords: Alaska/ethnology ; Arctic Regions/ethnology ; Base Sequence ; Bone and Bones ; Canada/ethnology ; DNA, Mitochondrial/genetics ; Genome, Human/*genetics ; Greenland/ethnology ; Hair ; History, Ancient ; *Human Migration ; Humans ; Inuits/ethnology/*genetics/history ; Molecular Sequence Data ; Siberia/ethnology ; Survivors/history ; Tooth
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 4
    Publication Date: 2013-11-22
    Description: The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians, there is no consensus with regard to which specific Old World populations they are closest to. Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal'ta in south-central Siberia, to an average depth of 1x. To our knowledge this is the oldest anatomically modern human genome reported to date. The MA-1 mitochondrial genome belongs to haplogroup U, which has also been found at high frequency among Upper Palaeolithic and Mesolithic European hunter-gatherers, and the Y chromosome of MA-1 is basal to modern-day western Eurasians and near the root of most Native American lineages. Similarly, we find autosomal evidence that MA-1 is basal to modern-day western Eurasians and genetically closely related to modern-day Native Americans, with no close affinity to east Asians. This suggests that populations related to contemporary western Eurasians had a more north-easterly distribution 24,000 years ago than commonly thought. Furthermore, we estimate that 14 to 38% of Native American ancestry may originate through gene flow from this ancient population. This is likely to have occurred after the divergence of Native American ancestors from east Asian ancestors, but before the diversification of Native American populations in the New World. Gene flow from the MA-1 lineage into Native American ancestors could explain why several crania from the First Americans have been reported as bearing morphological characteristics that do not resemble those of east Asians. Sequencing of another south-central Siberian, Afontova Gora-2 dating to approximately 17,000 years ago, revealed similar autosomal genetic signatures as MA-1, suggesting that the region was continuously occupied by humans throughout the Last Glacial Maximum. Our findings reveal that western Eurasian genetic signatures in modern-day Native Americans derive not only from post-Columbian admixture, as commonly thought, but also from a mixed ancestry of the First Americans.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105016/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105016/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Raghavan, Maanasa -- Skoglund, Pontus -- Graf, Kelly E -- Metspalu, Mait -- Albrechtsen, Anders -- Moltke, Ida -- Rasmussen, Simon -- Stafford, Thomas W Jr -- Orlando, Ludovic -- Metspalu, Ene -- Karmin, Monika -- Tambets, Kristiina -- Rootsi, Siiri -- Magi, Reedik -- Campos, Paula F -- Balanovska, Elena -- Balanovsky, Oleg -- Khusnutdinova, Elza -- Litvinov, Sergey -- Osipova, Ludmila P -- Fedorova, Sardana A -- Voevoda, Mikhail I -- DeGiorgio, Michael -- Sicheritz-Ponten, Thomas -- Brunak, Soren -- Demeshchenko, Svetlana -- Kivisild, Toomas -- Villems, Richard -- Nielsen, Rasmus -- Jakobsson, Mattias -- Willerslev, Eske -- R01 HG003229/HG/NHGRI NIH HHS/ -- England -- Nature. 2014 Jan 2;505(7481):87-91. doi: 10.1038/nature12736. Epub 2013 Nov 20.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, 1350 Copenhagen, Denmark [2]. ; 1] Department of Evolutionary Biology, Uppsala University, Norbyvagen 18D, Uppsala 752 36, Sweden [2]. ; Center for the Study of the First Americans, Texas A&M University, TAMU-4352, College Station, Texas 77845-4352, USA. ; 1] Estonian Biocentre, Evolutionary Biology group, Tartu 51010, Estonia [2] Department of Integrative Biology, University of California, Berkeley, California 94720, USA [3] Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia. ; The Bioinformatics Centre, Department of Biology, University of Copenhagen, Ole Maaloes Vej 5, Copenhagen 2200, Denmark. ; 1] The Bioinformatics Centre, Department of Biology, University of Copenhagen, Ole Maaloes Vej 5, Copenhagen 2200, Denmark [2] Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA. ; Center for Biological Sequence Analysis, Technical University of Denmark, Kongens Lyngby 2800, Denmark. ; 1] Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, 1350 Copenhagen, Denmark [2] AMS 14C Dating Centre, Department of Physics and Astronomy, University of Aarhus, Ny Munkegade 120, Aarhus DK-8000, Denmark. ; Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, 1350 Copenhagen, Denmark. ; Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia. ; 1] Estonian Biocentre, Evolutionary Biology group, Tartu 51010, Estonia [2] Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia. ; Estonian Biocentre, Evolutionary Biology group, Tartu 51010, Estonia. ; Estonian Genome Center, University of Tartu, Tartu 51010, Estonia. ; Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moskvorechie Street 1, Moscow 115479, Russia. ; 1] Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moskvorechie Street 1, Moscow 115479, Russia [2] Vavilov Institute of General Genetics, Russian Academy of Sciences, Gubkina Street 3, Moscow 119991, Russia. ; 1] Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, Bashkorostan 450054, Russia [2] Biology Department, Bashkir State University, Ufa, Bashkorostan 450074, Russia. ; 1] Estonian Biocentre, Evolutionary Biology group, Tartu 51010, Estonia [2] Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, Bashkorostan 450054, Russia. ; The Institute of Cytology and Genetics, Center for Brain Neurobiology and Neurogenetics, Siberian Branch of the Russian Academy of Sciences, Lavrentyeva Avenue, Novosibirsk 630090, Russia. ; Department of Molecular Genetics, Yakut Research Center of Complex Medical Problems, Russian Academy of Medical Sciences and North-Eastern Federal University, Yakutsk, Sakha (Yakutia) 677010, Russia. ; 1] The Institute of Cytology and Genetics, Center for Brain Neurobiology and Neurogenetics, Siberian Branch of the Russian Academy of Sciences, Lavrentyeva Avenue, Novosibirsk 630090, Russia [2] Institute of Internal Medicine, Siberian Branch of the Russian Academy of Medical Sciences, Borisa Bogatkova 175/1, Novosibirsk 630089, Russia. ; Department of Integrative Biology, University of California, Berkeley, California 94720, USA. ; 1] Center for Biological Sequence Analysis, Technical University of Denmark, Kongens Lyngby 2800, Denmark [2] Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, Kongens Lyngby 2800, Denmark. ; The State Hermitage Museum, 2, Dvortsovaya Ploshchad, St. Petersberg 190000, Russia. ; 1] Estonian Biocentre, Evolutionary Biology group, Tartu 51010, Estonia [2] Department of Biological Anthropology, University of Cambridge, Cambridge CB2 1QH, UK. ; 1] Estonian Biocentre, Evolutionary Biology group, Tartu 51010, Estonia [2] Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia [3] Estonian Academy of Sciences, Tallinn 10130, Estonia. ; 1] Department of Evolutionary Biology, Uppsala University, Norbyvagen 18D, Uppsala 752 36, Sweden [2] Science for Life Laboratory, Uppsala University, Norbyvagen 18D, 752 36 Uppsala, Sweden.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/24256729" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Asia/ethnology ; Asian Continental Ancestry Group/*genetics ; Chromosomes, Human, Y/genetics ; DNA, Mitochondrial/genetics ; Emigration and Immigration ; European Continental Ancestry Group/*genetics ; Gene Flow/genetics ; Genome, Human/*genetics ; Genome, Mitochondrial/genetics ; Haplotypes/genetics ; Humans ; Indians, North American/classification/*ethnology/*genetics ; Male ; *Phylogeny ; Phylogeography ; Siberia/ethnology ; Skeleton
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 5
    Publication Date: 2014-07-22
    Description: The Greenlandic population, a small and historically isolated founder population comprising about 57,000 inhabitants, has experienced a dramatic increase in type 2 diabetes (T2D) prevalence during the past 25 years. Motivated by this, we performed association mapping of T2D-related quantitative traits in up to 2,575 Greenlandic individuals without known diabetes. Using array-based genotyping and exome sequencing, we discovered a nonsense p.Arg684Ter variant (in which arginine is replaced by a termination codon) in the gene TBC1D4 with an allele frequency of 17%. Here we show that homozygous carriers of this variant have markedly higher concentrations of plasma glucose (beta = 3.8 mmol l(-1), P = 2.5 x 10(-35)) and serum insulin (beta = 165 pmol l(-1), P = 1.5 x 10(-20)) 2 hours after an oral glucose load compared with individuals with other genotypes (both non-carriers and heterozygous carriers). Furthermore, homozygous carriers have marginally lower concentrations of fasting plasma glucose (beta = -0.18 mmol l(-1), P = 1.1 x 10(-6)) and fasting serum insulin (beta = -8.3 pmol l(-1), P = 0.0014), and their T2D risk is markedly increased (odds ratio (OR) = 10.3, P = 1.6 x 10(-24)). Heterozygous carriers have a moderately higher plasma glucose concentration 2 hours after an oral glucose load than non-carriers (beta = 0.43 mmol l(-1), P = 5.3 x 10(-5)). Analyses of skeletal muscle biopsies showed lower messenger RNA and protein levels of the long isoform of TBC1D4, and lower muscle protein levels of the glucose transporter GLUT4, with increasing number of p.Arg684Ter alleles. These findings are concomitant with a severely decreased insulin-stimulated glucose uptake in muscle, leading to postprandial hyperglycaemia, impaired glucose tolerance and T2D. The observed effect sizes are several times larger than any previous findings in large-scale genome-wide association studies of these traits and constitute further proof of the value of conducting genetic association studies outside the traditional setting of large homogeneous populations.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Moltke, Ida -- Grarup, Niels -- Jorgensen, Marit E -- Bjerregaard, Peter -- Treebak, Jonas T -- Fumagalli, Matteo -- Korneliussen, Thorfinn S -- Andersen, Marianne A -- Nielsen, Thomas S -- Krarup, Nikolaj T -- Gjesing, Anette P -- Zierath, Juleen R -- Linneberg, Allan -- Wu, Xueli -- Sun, Guangqing -- Jin, Xin -- Al-Aama, Jumana -- Wang, Jun -- Borch-Johnsen, Knut -- Pedersen, Oluf -- Nielsen, Rasmus -- Albrechtsen, Anders -- Hansen, Torben -- England -- Nature. 2014 Aug 14;512(7513):190-3. doi: 10.1038/nature13425. Epub 2014 Jun 18.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] The Bioinformatics Centre, Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark [2] Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA [3]. ; 1] The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark [2]. ; Steno Diabetes Center, 2820 Gentofte, Denmark. ; National Institute of Public Health, University of Southern Denmark, 1353 Copenhagen, Denmark. ; The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Integrative Physiology, Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark. ; Department of Integrative Biology, University of California, Berkeley, California 94720, USA. ; Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark. ; The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark. ; 1] The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Integrative Physiology, Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark [2] Department of Molecular Medicine and Surgery, Karolinska Institute, 171 77 Stockholm, Sweden. ; Research Centre for Prevention and Health, Glostrup University Hospital, 2600 Glostrup, Denmark. ; BGI-Shenzhen, Shenzhen 518083, China. ; 1] BGI-Shenzhen, Shenzhen 518083, China [2] The Department of Genetic Medicine, Faculty of Medicine and Princess Al Jawhara Albrahim Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah 21589, Saudi Arabia. ; 1] The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark [2] BGI-Shenzhen, Shenzhen 518083, China [3] The Department of Genetic Medicine, Faculty of Medicine and Princess Al Jawhara Albrahim Center of Excellence in the Research of Hereditary Disorders, King Abdulaziz University, Jeddah 21589, Saudi Arabia [4] Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark [5] Macau University of Science and Technology, Macau 999078, China. ; Holbaek Hospital, 4300 Holbaek, Denmark. ; 1] Department of Integrative Biology, University of California, Berkeley, California 94720, USA [2] Department of Statistics, University of California, Berkeley, California 94720, USA. ; The Bioinformatics Centre, Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark. ; 1] The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark [2] Faculty of Health Sciences, University of Southern Denmark, 5000 Odense, Denmark.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25043022" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Blood Glucose/analysis ; Codon, Nonsense/genetics ; Diabetes Mellitus, Type 2/*genetics ; GTPase-Activating Proteins/*genetics ; Gene Frequency ; *Genetic Variation ; Genome-Wide Association Study ; Genotype ; Greenland ; Humans ; Insulin/blood ; Insulin Resistance/*genetics ; Middle Aged ; Muscle, Skeletal/metabolism
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 6
    Publication Date: 2013-06-28
    Description: The rich fossil record of equids has made them a model for evolutionary processes. Here we present a 1.12-times coverage draft genome from a horse bone recovered from permafrost dated to approximately 560-780 thousand years before present (kyr BP). Our data represent the oldest full genome sequence determined so far by almost an order of magnitude. For comparison, we sequenced the genome of a Late Pleistocene horse (43 kyr BP), and modern genomes of five domestic horse breeds (Equus ferus caballus), a Przewalski's horse (E. f. przewalskii) and a donkey (E. asinus). Our analyses suggest that the Equus lineage giving rise to all contemporary horses, zebras and donkeys originated 4.0-4.5 million years before present (Myr BP), twice the conventionally accepted time to the most recent common ancestor of the genus Equus. We also find that horse population size fluctuated multiple times over the past 2 Myr, particularly during periods of severe climatic changes. We estimate that the Przewalski's and domestic horse populations diverged 38-72 kyr BP, and find no evidence of recent admixture between the domestic horse breeds and the Przewalski's horse investigated. This supports the contention that Przewalski's horses represent the last surviving wild horse population. We find similar levels of genetic variation among Przewalski's and domestic populations, indicating that the former are genetically viable and worthy of conservation efforts. We also find evidence for continuous selection on the immune system and olfaction throughout horse evolution. Finally, we identify 29 genomic regions among horse breeds that deviate from neutrality and show low levels of genetic variation compared to the Przewalski's horse. Such regions could correspond to loci selected early during domestication.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Orlando, Ludovic -- Ginolhac, Aurelien -- Zhang, Guojie -- Froese, Duane -- Albrechtsen, Anders -- Stiller, Mathias -- Schubert, Mikkel -- Cappellini, Enrico -- Petersen, Bent -- Moltke, Ida -- Johnson, Philip L F -- Fumagalli, Matteo -- Vilstrup, Julia T -- Raghavan, Maanasa -- Korneliussen, Thorfinn -- Malaspinas, Anna-Sapfo -- Vogt, Josef -- Szklarczyk, Damian -- Kelstrup, Christian D -- Vinther, Jakob -- Dolocan, Andrei -- Stenderup, Jesper -- Velazquez, Amhed M V -- Cahill, James -- Rasmussen, Morten -- Wang, Xiaoli -- Min, Jiumeng -- Zazula, Grant D -- Seguin-Orlando, Andaine -- Mortensen, Cecilie -- Magnussen, Kim -- Thompson, John F -- Weinstock, Jacobo -- Gregersen, Kristian -- Roed, Knut H -- Eisenmann, Vera -- Rubin, Carl J -- Miller, Donald C -- Antczak, Douglas F -- Bertelsen, Mads F -- Brunak, Soren -- Al-Rasheid, Khaled A S -- Ryder, Oliver -- Andersson, Leif -- Mundy, John -- Krogh, Anders -- Gilbert, M Thomas P -- Kjaer, Kurt -- Sicheritz-Ponten, Thomas -- Jensen, Lars Juhl -- Olsen, Jesper V -- Hofreiter, Michael -- Nielsen, Rasmus -- Shapiro, Beth -- Wang, Jun -- Willerslev, Eske -- RC2 HG005598/HG/NHGRI NIH HHS/ -- England -- Nature. 2013 Jul 4;499(7456):74-8. doi: 10.1038/nature12323. Epub 2013 Jun 26.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, 1350 Copenhagen K, Denmark. Lorlando@snm.ku.dk〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23803765" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Conservation of Natural Resources ; DNA/analysis/genetics ; Endangered Species ; Equidae/classification/genetics ; *Evolution, Molecular ; Fossils ; Genetic Variation/genetics ; Genome/*genetics ; History, Ancient ; Horses/classification/*genetics ; *Phylogeny ; Proteins/analysis/chemistry/genetics ; Yukon Territory
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    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 7
    Publication Date: 2014-02-14
    Description: Clovis, with its distinctive biface, blade and osseous technologies, is the oldest widespread archaeological complex defined in North America, dating from 11,100 to 10,700 (14)C years before present (bp) (13,000 to 12,600 calendar years bp). Nearly 50 years of archaeological research point to the Clovis complex as having developed south of the North American ice sheets from an ancestral technology. However, both the origins and the genetic legacy of the people who manufactured Clovis tools remain under debate. It is generally believed that these people ultimately derived from Asia and were directly related to contemporary Native Americans. An alternative, Solutrean, hypothesis posits that the Clovis predecessors emigrated from southwestern Europe during the Last Glacial Maximum. Here we report the genome sequence of a male infant (Anzick-1) recovered from the Anzick burial site in western Montana. The human bones date to 10,705 +/- 35 (14)C years bp (approximately 12,707-12,556 calendar years bp) and were directly associated with Clovis tools. We sequenced the genome to an average depth of 14.4x and show that the gene flow from the Siberian Upper Palaeolithic Mal'ta population into Native American ancestors is also shared by the Anzick-1 individual and thus happened before 12,600 years bp. We also show that the Anzick-1 individual is more closely related to all indigenous American populations than to any other group. Our data are compatible with the hypothesis that Anzick-1 belonged to a population directly ancestral to many contemporary Native Americans. Finally, we find evidence of a deep divergence in Native American populations that predates the Anzick-1 individual.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rasmussen, Morten -- Anzick, Sarah L -- Waters, Michael R -- Skoglund, Pontus -- DeGiorgio, Michael -- Stafford, Thomas W Jr -- Rasmussen, Simon -- Moltke, Ida -- Albrechtsen, Anders -- Doyle, Shane M -- Poznik, G David -- Gudmundsdottir, Valborg -- Yadav, Rachita -- Malaspinas, Anna-Sapfo -- White, Samuel Stockton 5th -- Allentoft, Morten E -- Cornejo, Omar E -- Tambets, Kristiina -- Eriksson, Anders -- Heintzman, Peter D -- Karmin, Monika -- Korneliussen, Thorfinn Sand -- Meltzer, David J -- Pierre, Tracey L -- Stenderup, Jesper -- Saag, Lauri -- Warmuth, Vera M -- Lopes, Margarida C -- Malhi, Ripan S -- Brunak, Soren -- Sicheritz-Ponten, Thomas -- Barnes, Ian -- Collins, Matthew -- Orlando, Ludovic -- Balloux, Francois -- Manica, Andrea -- Gupta, Ramneek -- Metspalu, Mait -- Bustamante, Carlos D -- Jakobsson, Mattias -- Nielsen, Rasmus -- Willerslev, Eske -- BB/H005854/1/Biotechnology and Biological Sciences Research Council/United Kingdom -- BB/H008802/1/Biotechnology and Biological Sciences Research Council/United Kingdom -- P25032/Biotechnology and Biological Sciences Research Council/United Kingdom -- England -- Nature. 2014 Feb 13;506(7487):225-9. doi: 10.1038/nature13025.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, DK-1350 Copenhagen K, Denmark [2]. ; 1] Anzick Family, 31 Old Clyde Park Road, Livingston, Montana 59047, USA [2]. ; Center for the Study of the First Americans, Departments of Anthropology and Geography, Texas A&M University, 4352 TAMU, College Station, Texas 77843-4352, USA. ; Department of Evolutionary Biology, Uppsala University, Norbyvagen 18D, 752 36 Uppsala, Sweden. ; 1] Department of Integrative Biology, University of California, Berkeley, 4134 Valley Life Sciences Building, Berkeley, California 94720, USA [2] Earth Sciences Department, Natural History Museum, Cromwell Road, London SW7 5BD, UK (I.B.); Department of Biology, Pennsylvania State University, 502 Wartik Laboratory, University Park, Pennsylvania 16802, USA (M.D.). ; 1] Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, DK-1350 Copenhagen K, Denmark [2] AMS 14C Dating Centre, Department of Physics & Astronomy, University of Aarhus, Ny Munkegade 120, DK-8000 Aarhus C, Denmark. ; Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, Kemitorvet 208, Kgs. Lyngby DK-2800, Denmark. ; 1] The Bioinformatics Centre, Department of Biology, University of Copenhagen, Ole Maaloes Vej 5, DK-2200 Copenhagen N, Denmark [2] Department of Human Genetics, University of Chicago, 920 E. 58th Street, CLSC 4th floor, Chicago, Illinois 60637, USA. ; The Bioinformatics Centre, Department of Biology, University of Copenhagen, Ole Maaloes Vej 5, DK-2200 Copenhagen N, Denmark. ; Education Department, Montana State University, Box 5103, Bozeman, Montana 59717, USA. ; Program in Biomedical Informatics and Department of Statistics, Stanford University, Stanford, California 94305, USA. ; Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, DK-1350 Copenhagen K, Denmark. ; Anthropology Department, PhD Program, University of Montana, 4100 Mullan Road, no. 217, Missoula, Montana 59808, USA. ; School of Biological Sciences, Washington State University, PO Box 644236, Eastlick Hall 395, Pullman, Washington 99164, USA. ; Department of Evolutionary Biology, Estonian Biocentre and University of Tartu, Riia 23b, 51010 Tartu, Estonia. ; 1] Department of Zoology, University of Cambridge, Downing Street, Cambridge CB2 3EJ, UK [2] Integrative Systems Biology Laboratory, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Kingdom of Saudi Arabia. ; School of Biological Sciences, Royal Holloway, University of London, Egham, Surrey TW20 0EX, UK. ; Department of Anthropology, Southern Methodist University, Dallas, Texas 75275, USA. ; 1] Department of Zoology, University of Cambridge, Downing Street, Cambridge CB2 3EJ, UK [2] Department of Genetics, Evolution and Environment, University College London, Gower Street, London WC1E 6BT, UK. ; Department of Genetics, Evolution and Environment, University College London, Gower Street, London WC1E 6BT, UK. ; Department of Anthropology and Institute for Genomic Biology, University of Illinois Urbana-Champaign, 209F Davenport Hall, 607 Matthews Avenue, Urbana, Illinois 61801, USA. ; 1] School of Biological Sciences, Royal Holloway, University of London, Egham, Surrey TW20 0EX, UK [2] Earth Sciences Department, Natural History Museum, Cromwell Road, London SW7 5BD, UK (I.B.); Department of Biology, Pennsylvania State University, 502 Wartik Laboratory, University Park, Pennsylvania 16802, USA (M.D.). ; BioArCh, Departments of Biology, Archaeology and Chemistry, University of York, Wentworth Way, York YO10 5DD, UK. ; MRC Centre for Outbreak, Analysis and Modelling, Department of Infectious Disease Epidemiology, Imperial College London, Imperial College Faculty of Medicine, London W2 1PG, UK. ; Department of Zoology, University of Cambridge, Downing Street, Cambridge CB2 3EJ, UK. ; 1] Department of Genetics, School of Medicine, Stanford University, Littlefield Center, Stanford, California 94305, USA [2] Center for Evolutionary and Human Genomics, Stanford University, Littlefield Center, Stanford, California 94305, USA. ; 1] Department of Evolutionary Biology, Uppsala University, Norbyvagen 18D, 752 36 Uppsala, Sweden [2] Science for Life Laboratory, Uppsala University, Norbyvagen 18D, 752 36 Uppsala, Sweden. ; Department of Integrative Biology, University of California, Berkeley, 4134 Valley Life Sciences Building, Berkeley, California 94720, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/24522598" target="_blank"〉PubMed〈/a〉
    Keywords: Archaeology ; Asia/ethnology ; Bone and Bones ; Burial ; Chromosomes, Human, Y/genetics ; DNA, Mitochondrial/genetics ; Emigration and Immigration/history ; Europe/ethnology ; Gene Flow/genetics ; Genome, Human/*genetics ; Haplotypes/genetics ; History, Ancient ; Humans ; Indians, North American/*genetics ; Infant ; Male ; Models, Genetic ; Molecular Sequence Data ; Montana ; *Phylogeny ; Population Dynamics ; Radiometric Dating
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  • 8
    Publication Date: 2015-06-19
    Description: Kennewick Man, referred to as the Ancient One by Native Americans, is a male human skeleton discovered in Washington state (USA) in 1996 and initially radiocarbon dated to 8,340-9,200 calibrated years before present (BP). His population affinities have been the subject of scientific debate and legal controversy. Based on an initial study of cranial morphology it was asserted that Kennewick Man was neither Native American nor closely related to the claimant Plateau tribes of the Pacific Northwest, who claimed ancestral relationship and requested repatriation under the Native American Graves Protection and Repatriation Act (NAGPRA). The morphological analysis was important to judicial decisions that Kennewick Man was not Native American and that therefore NAGPRA did not apply. Instead of repatriation, additional studies of the remains were permitted. Subsequent craniometric analysis affirmed Kennewick Man to be more closely related to circumpacific groups such as the Ainu and Polynesians than he is to modern Native Americans. In order to resolve Kennewick Man's ancestry and affiliations, we have sequenced his genome to approximately 1x coverage and compared it to worldwide genomic data including for the Ainu and Polynesians. We find that Kennewick Man is closer to modern Native Americans than to any other population worldwide. Among the Native American groups for whom genome-wide data are available for comparison, several seem to be descended from a population closely related to that of Kennewick Man, including the Confederated Tribes of the Colville Reservation (Colville), one of the five tribes claiming Kennewick Man. We revisit the cranial analyses and find that, as opposed to genome-wide comparisons, it is not possible on that basis to affiliate Kennewick Man to specific contemporary groups. We therefore conclude based on genetic comparisons that Kennewick Man shows continuity with Native North Americans over at least the last eight millennia.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rasmussen, Morten -- Sikora, Martin -- Albrechtsen, Anders -- Korneliussen, Thorfinn Sand -- Moreno-Mayar, J Victor -- Poznik, G David -- Zollikofer, Christoph P E -- Ponce de Leon, Marcia S -- Allentoft, Morten E -- Moltke, Ida -- Jonsson, Hakon -- Valdiosera, Cristina -- Malhi, Ripan S -- Orlando, Ludovic -- Bustamante, Carlos D -- Stafford, Thomas W Jr -- Meltzer, David J -- Nielsen, Rasmus -- Willerslev, Eske -- England -- Nature. 2015 Jul 23;523(7561):455-8. doi: 10.1038/nature14625.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, DK-1350 Copenhagen K, Denmark [2] Department of Genetics, School of Medicine, Stanford University, Littlefield Center, Stanford, California 94305, USA. ; Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, DK-1350 Copenhagen K, Denmark. ; The Bioinformatics Centre, Department of Biology, University of Copenhagen, Ole Maaloes Vej 5, DK-2200 Copenhagen N, Denmark. ; Program in Biomedical Informatics, Stanford University, Stanford, California 94305, USA. ; Anthropological Institute, University of Zurich, Winterthurerstrasse 190, CH-8057 Zurich, Switzerland. ; 1] Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, DK-1350 Copenhagen K, Denmark [2] Department of Archaeology and History, La Trobe University, Melbourne, Victoria 3086, Australia. ; Department of Anthropology and Carl R. Woese Institute for Genomic Biology, University of Illinois Urbana-Champaign, 209F Davenport Hall, 607 Matthews Avenue, Urbana, Illinois 61801, USA. ; 1] Department of Genetics, School of Medicine, Stanford University, Littlefield Center, Stanford, California 94305, USA [2] Center for Evolutionary and Human Genomics, Stanford University, Littlefield Center, Stanford, California 94305, USA. ; 1] Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, DK-1350 Copenhagen K, Denmark [2] AMS, 14C Dating Centre, Department of Physics &Astronomy, University of Aarhus, Ny Munkegade 120, DK-8000 Aarhus C, Denmark. ; Department of Anthropology, Southern Methodist University, Dallas, Texas 75275, USA. ; 1] Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, DK-1350 Copenhagen K, Denmark [2] Department of Integrative Biology, University of California, Berkeley, 4134 Valley Life Sciences Building, Berkeley, California 94720, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26087396" target="_blank"〉PubMed〈/a〉
    Keywords: Americas ; Genome, Human/genetics ; Genomics ; Humans ; Indians, North American/*genetics ; Male ; *Phylogeny ; *Skeleton ; Skull/anatomy & histology ; Washington
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  • 9
    Publication Date: 2014-11-08
    Description: The origin of contemporary Europeans remains contentious. We obtained a genome sequence from Kostenki 14 in European Russia dating from 38,700 to 36,200 years ago, one of the oldest fossils of anatomically modern humans from Europe. We find that Kostenki 14 shares a close ancestry with the 24,000-year-old Mal'ta boy from central Siberia, European Mesolithic hunter-gatherers, some contemporary western Siberians, and many Europeans, but not eastern Asians. Additionally, the Kostenki 14 genome shows evidence of shared ancestry with a population basal to all Eurasians that also relates to later European Neolithic farmers. We find that Kostenki 14 contains more Neandertal DNA that is contained in longer tracts than present Europeans. Our findings reveal the timing of divergence of western Eurasians and East Asians to be more than 36,200 years ago and that European genomic structure today dates back to the Upper Paleolithic and derives from a metapopulation that at times stretched from Europe to central Asia.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Seguin-Orlando, Andaine -- Korneliussen, Thorfinn S -- Sikora, Martin -- Malaspinas, Anna-Sapfo -- Manica, Andrea -- Moltke, Ida -- Albrechtsen, Anders -- Ko, Amy -- Margaryan, Ashot -- Moiseyev, Vyacheslav -- Goebel, Ted -- Westaway, Michael -- Lambert, David -- Khartanovich, Valeri -- Wall, Jeffrey D -- Nigst, Philip R -- Foley, Robert A -- Lahr, Marta Mirazon -- Nielsen, Rasmus -- Orlando, Ludovic -- Willerslev, Eske -- New York, N.Y. -- Science. 2014 Nov 28;346(6213):1113-8. doi: 10.1126/science.aaa0114. Epub 2014 Nov 6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, 1350 Copenhagen, Denmark. ; Department of Zoology, University of Cambridge, Downing Street, Cambridge, CB2 3EJ, UK. ; Department of Human Genetics, University of Chicago, 920 East 58th Street, Cummings Life Science Center, Chicago, IL 60637, USA. The Bioinformatics Center, University of Copenhagen, Ole Maaloes Vej 5, 2200 Kobenhavn N, Denmark. ; The Bioinformatics Center, University of Copenhagen, Ole Maaloes Vej 5, 2200 Kobenhavn N, Denmark. ; Environmental Futures Research Institute, Griffith University, 170 Kessels Road, Nathan, Brisbane, Queensland 4111, Australia. ; Department of Physical Anthropology, Kunstkamera, Peter the Great Museum of Anthropology and Ethnography, Russian Academy of Sciences, 24 Srednii Prospect, Vassilievskii Island, St. Petersburg, Russia. ; Center for the Study of the First Americans and Department of Anthropology, Texas A&M University, TAMU-4352, College Station, Texas 77845-4352, USA. ; Department of Epidemiology and Biostatistics, University of California San Francisco, 185 Berry Street, Lobby 5, Suite 5700, San Francisco, CA 94107, USA. ; Division of Archaeology, University of Cambridge, Cambridge, Downing Street, CB2 3DZ, UK. Department of Human Evolution, Max-Planck-Institute for Evolutionary Anthropology, Leipzig, Deutscher Platz 6, D-04103, Germany. ; Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, 1350 Copenhagen, Denmark. Leverhulme Centre for Human Evolutionary Studies, Department of Archaeology and Anthropology, University of Cambridge, Cambridge, Fitzwilliam Street, CB2 1QH, UK. ; Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, 1350 Copenhagen, Denmark. Leverhulme Centre for Human Evolutionary Studies, Department of Archaeology and Anthropology, University of Cambridge, Cambridge, Fitzwilliam Street, CB2 1QH, UK. ewillerslev@snm.ku.dk rasmus_nielsen@berkeley.edu mbml1@cam.ac.uk. ; Environmental Futures Research Institute, Griffith University, 170 Kessels Road, Nathan, Brisbane, Queensland 4111, Australia. ewillerslev@snm.ku.dk rasmus_nielsen@berkeley.edu mbml1@cam.ac.uk. ; Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Oster Voldgade 5-7, 1350 Copenhagen, Denmark. ewillerslev@snm.ku.dk rasmus_nielsen@berkeley.edu mbml1@cam.ac.uk.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25378462" target="_blank"〉PubMed〈/a〉
    Keywords: DNA/*genetics/history ; Europe ; European Continental Ancestry Group/*genetics/history ; Fossils ; Genome, Human/*genetics ; Genomics ; History, Ancient ; Humans ; Male ; Siberia
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  • 10
    Publication Date: 2015-09-19
    Description: The indigenous people of Greenland, the Inuit, have lived for a long time in the extreme conditions of the Arctic, including low annual temperatures, and with a specialized diet rich in protein and fatty acids, particularly omega-3 polyunsaturated fatty acids (PUFAs). A scan of Inuit genomes for signatures of adaptation revealed signals at several loci, with the strongest signal located in a cluster of fatty acid desaturases that determine PUFA levels. The selected alleles are associated with multiple metabolic and anthropometric phenotypes and have large effect sizes for weight and height, with the effect on height replicated in Europeans. By analyzing membrane lipids, we found that the selected alleles modulate fatty acid composition, which may affect the regulation of growth hormones. Thus, the Inuit have genetic and physiological adaptations to a diet rich in PUFAs.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Fumagalli, Matteo -- Moltke, Ida -- Grarup, Niels -- Racimo, Fernando -- Bjerregaard, Peter -- Jorgensen, Marit E -- Korneliussen, Thorfinn S -- Gerbault, Pascale -- Skotte, Line -- Linneberg, Allan -- Christensen, Cramer -- Brandslund, Ivan -- Jorgensen, Torben -- Huerta-Sanchez, Emilia -- Schmidt, Erik B -- Pedersen, Oluf -- Hansen, Torben -- Albrechtsen, Anders -- Nielsen, Rasmus -- R01-HG003229/HG/NHGRI NIH HHS/ -- New York, N.Y. -- Science. 2015 Sep 18;349(6254):1343-7. doi: 10.1126/science.aab2319.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Evolution, and Environment, University College London, London WC1E 6BT, UK. Department of Integrative Biology, University of California-Berkeley, Berkeley, CA 94720, USA. ; The Bioinformatics Centre, Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark. ; The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark. ; Department of Integrative Biology, University of California-Berkeley, Berkeley, CA 94720, USA. ; National Institute of Public Health, University of Southern Denmark, 1353 Copenhagen, Denmark. Greenland Center for Health Research, University of Greenland, Nuuk, Greenland. ; National Institute of Public Health, University of Southern Denmark, 1353 Copenhagen, Denmark. Steno Diabetes Center, 2820 Gentofte, Denmark. ; Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, 1350 Copenhagen, Denmark. ; Department of Genetics, Evolution, and Environment, University College London, London WC1E 6BT, UK. Department of Anthropology, University College London, London WC1H 0BW, UK. ; Research Centre for Prevention and Health, Capital Region of Denmark, Copenhagen, Denmark. Department of Clinical Experimental Research, Rigshospitalet, Glostrup, Denmark. Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. ; Department of Medicine, Lillebaelt Hospital, Vejle, Denmark. ; Department of Clinical Biochemistry, Lillebaelt Hospital, Vejle, Denmark. Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark. ; Research Centre for Prevention and Health, Capital Region of Denmark, Copenhagen, Denmark. Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Faculty of Medicine, University of Aalborg, Aalborg, Denmark. ; School of Natural Sciences, University of California-Merced, Merced, CA 95343, USA. ; Faculty of Medicine, University of Aalborg, Aalborg, Denmark. Department of Cardiology, Aalborg University Hospital, 9100 Aalborg, Denmark. ; The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark. torben.hansen@sund.ku.dk albrecht@binf.ku.dk rasmus_nielsen@berkeley.edu. ; The Bioinformatics Centre, Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark. torben.hansen@sund.ku.dk albrecht@binf.ku.dk rasmus_nielsen@berkeley.edu. ; Department of Integrative Biology, University of California-Berkeley, Berkeley, CA 94720, USA. Department of Statistics, University of California-Berkeley, Berkeley, CA 94720, USA. torben.hansen@sund.ku.dk albrecht@binf.ku.dk rasmus_nielsen@berkeley.edu.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26383953" target="_blank"〉PubMed〈/a〉
    Keywords: Acclimatization/*genetics ; Alleles ; Arctic Regions ; Body Height/genetics ; Body Weight/genetics ; Chromosomes, Human, Pair 11/genetics ; Climate ; *Diet, High-Fat ; Fatty Acids, Omega-3/*administration & dosage/analysis ; Female ; Genetic Loci ; Genome, Human/genetics ; Genome-Wide Association Study ; Greenland ; Humans ; Inuits/*genetics ; Linkage Disequilibrium ; Male ; Membrane Lipids/analysis/genetics ; Polymorphism, Single Nucleotide ; Selection, Genetic
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    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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