ALBERT

Description: Genomic analyses inform on migration events during the peopling of Eurasia Nature 538, 7624 (2016). doi:10.1038/nature19792 Authors: Luca Pagani, Daniel John Lawson, Evelyn Jagoda, Alexander Mörseburg, Anders Eriksson, Mario Mitt, Florian Clemente, Georgi Hudjashov, Michael DeGiorgio, Lauri Saag, Jeffrey D. Wall, Alexia Cardona, Reedik Mägi, Melissa A. Wilson Sayres, Sarah Kaewert, Charlotte Inchley, Christiana L. Scheib, Mari Järve, Monika Karmin, Guy S. Jacobs, Tiago Antao, Florin Mircea Iliescu, Alena Kushniarevich, Qasim Ayub, Chris Tyler-Smith, Yali Xue, Bayazit Yunusbayev, Kristiina Tambets, Chandana Basu Mallick, Lehti Saag, Elvira Pocheshkhova, George Andriadze, Craig Muller, Michael C. Westaway, David M. Lambert, Grigor Zoraqi, Shahlo Turdikulova, Dilbar Dalimova, Zhaxylyk Sabitov, Gazi Nurun Nahar Sultana, Joseph Lachance, Sarah Tishkoff, Kuvat Momynaliev, Jainagul Isakova, Larisa D. Damba, Marina Gubina, Pagbajabyn Nymadawa, Irina Evseeva, Lubov Atramentova, Olga Utevska, François-Xavier Ricaut, Nicolas Brucato, Herawati Sudoyo, Thierry Letellier, Murray P. Cox, Nikolay A. Barashkov, Vedrana Škaro, Lejla Mulahasanovic´, Dragan Primorac, Hovhannes Sahakyan, Maru Mormina, Christina A. Eichstaedt, Daria V. Lichman, Syafiq Abdullah, Gyaneshwer Chaubey, Joseph T. S. Wee, Evelin Mihailov, Alexandra Karunas, Sergei Litvinov, Rita Khusainova, Natalya Ekomasova, Vita Akhmetova, Irina Khidiyatova, Damir Marjanović, Levon Yepiskoposyan, Doron M. Behar, Elena Balanovska, Andres Metspalu, Miroslava Derenko, Boris Malyarchuk, Mikhail Voevoda, Sardana A. Fedorova, Ludmila P. Osipova, Marta Mirazón Lahr, Pascale Gerbault, Matthew Leavesley, Andrea Bamberg Migliano, Michael Petraglia, Oleg Balanovsky, Elza K. Khusnutdinova, Ene Metspalu, Mark G. Thomas, Andrea Manica, Rasmus Nielsen, Richard Villems, Eske Willerslev, Toomas Kivisild & Mait Metspalu High-coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations, or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history and refuelled the debate on the mutation rate in humans. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record, and admixture between AMHs and Neanderthals predating the main Eurasian expansion, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago.

Description: Contemporary Jews comprise an aggregate of ethno-religious communities whose worldwide members identify with each other through various shared religious, historical and cultural traditions. Historical evidence suggests common origins in the Middle East, followed by migrations leading to the establishment of communities of Jews in Europe, Africa and Asia, in what is termed the Jewish Diaspora. This complex demographic history imposes special challenges in attempting to address the genetic structure of the Jewish people. Although many genetic studies have shed light on Jewish origins and on diseases prevalent among Jewish communities, including studies focusing on uniparentally and biparentally inherited markers, genome-wide patterns of variation across the vast geographic span of Jewish Diaspora communities and their respective neighbours have yet to be addressed. Here we use high-density bead arrays to genotype individuals from 14 Jewish Diaspora communities and compare these patterns of genome-wide diversity with those from 69 Old World non-Jewish populations, of which 25 have not previously been reported. These samples were carefully chosen to provide comprehensive comparisons between Jewish and non-Jewish populations in the Diaspora, as well as with non-Jewish populations from the Middle East and north Africa. Principal component and structure-like analyses identify previously unrecognized genetic substructure within the Middle East. Most Jewish samples form a remarkably tight subcluster that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. In contrast, Ethiopian Jews (Beta Israel) and Indian Jews (Bene Israel and Cochini) cluster with neighbouring autochthonous populations in Ethiopia and western India, respectively, despite a clear paternal link between the Bene Israel and the Levant. These results cast light on the variegated genetic architecture of the Middle East, and trace the origins of most Jewish Diaspora communities to the Levant.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Behar, Doron M -- Yunusbayev, Bayazit -- Metspalu, Mait -- Metspalu, Ene -- Rosset, Saharon -- Parik, Juri -- Rootsi, Siiri -- Chaubey, Gyaneshwer -- Kutuev, Ildus -- Yudkovsky, Guennady -- Khusnutdinova, Elza K -- Balanovsky, Oleg -- Semino, Ornella -- Pereira, Luisa -- Comas, David -- Gurwitz, David -- Bonne-Tamir, Batsheva -- Parfitt, Tudor -- Hammer, Michael F -- Skorecki, Karl -- Villems, Richard -- England -- Nature. 2010 Jul 8;466(7303):238-42. doi: 10.1038/nature09103. Epub 2010 Jun 9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa 31096, Israel. behardm@usernet.com〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20531471" target="_blank"〉PubMed〈/a〉

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〉

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〉

Description: We sequenced the genomes of a approximately 7,000-year-old farmer from Germany and eight approximately 8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians, who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had approximately 44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170574/" 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/PMC4170574/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lazaridis, Iosif -- Patterson, Nick -- Mittnik, Alissa -- Renaud, Gabriel -- Mallick, Swapan -- Kirsanow, Karola -- Sudmant, Peter H -- Schraiber, Joshua G -- Castellano, Sergi -- Lipson, Mark -- Berger, Bonnie -- Economou, Christos -- Bollongino, Ruth -- Fu, Qiaomei -- Bos, Kirsten I -- Nordenfelt, Susanne -- Li, Heng -- de Filippo, Cesare -- Prufer, Kay -- Sawyer, Susanna -- Posth, Cosimo -- Haak, Wolfgang -- Hallgren, Fredrik -- Fornander, Elin -- Rohland, Nadin -- Delsate, Dominique -- Francken, Michael -- Guinet, Jean-Michel -- Wahl, Joachim -- Ayodo, George -- Babiker, Hamza A -- Bailliet, Graciela -- Balanovska, Elena -- Balanovsky, Oleg -- Barrantes, Ramiro -- Bedoya, Gabriel -- Ben-Ami, Haim -- Bene, Judit -- Berrada, Fouad -- Bravi, Claudio M -- Brisighelli, Francesca -- Busby, George B J -- Cali, Francesco -- Churnosov, Mikhail -- Cole, David E C -- Corach, Daniel -- Damba, Larissa -- van Driem, George -- Dryomov, Stanislav -- Dugoujon, Jean-Michel -- Fedorova, Sardana A -- Gallego Romero, Irene -- Gubina, Marina -- Hammer, Michael -- Henn, Brenna M -- Hervig, Tor -- Hodoglugil, Ugur -- Jha, Aashish R -- Karachanak-Yankova, Sena -- Khusainova, Rita -- Khusnutdinova, Elza -- Kittles, Rick -- Kivisild, Toomas -- Klitz, William -- Kucinskas, Vaidutis -- Kushniarevich, Alena -- Laredj, Leila -- Litvinov, Sergey -- Loukidis, Theologos -- Mahley, Robert W -- Melegh, Bela -- Metspalu, Ene -- Molina, Julio -- Mountain, Joanna -- Nakkalajarvi, Klemetti -- Nesheva, Desislava -- Nyambo, Thomas -- Osipova, Ludmila -- Parik, Juri -- Platonov, Fedor -- Posukh, Olga -- Romano, Valentino -- Rothhammer, Francisco -- Rudan, Igor -- Ruizbakiev, Ruslan -- Sahakyan, Hovhannes -- Sajantila, Antti -- Salas, Antonio -- Starikovskaya, Elena B -- Tarekegn, Ayele -- Toncheva, Draga -- Turdikulova, Shahlo -- Uktveryte, Ingrida -- Utevska, Olga -- Vasquez, Rene -- Villena, Mercedes -- Voevoda, Mikhail -- Winkler, Cheryl A -- Yepiskoposyan, Levon -- Zalloua, Pierre -- Zemunik, Tatijana -- Cooper, Alan -- Capelli, Cristian -- Thomas, Mark G -- Ruiz-Linares, Andres -- Tishkoff, Sarah A -- Singh, Lalji -- Thangaraj, Kumarasamy -- Villems, Richard -- Comas, David -- Sukernik, Rem -- Metspalu, Mait -- Meyer, Matthias -- Eichler, Evan E -- Burger, Joachim -- Slatkin, Montgomery -- Paabo, Svante -- Kelso, Janet -- Reich, David -- Krause, Johannes -- 8DP1ES022577-04/DP/NCCDPHP CDC HHS/ -- GM100233/GM/NIGMS NIH HHS/ -- GM40282/GM/NIGMS NIH HHS/ -- HG002385/HG/NHGRI NIH HHS/ -- HG004120/HG/NHGRI NIH HHS/ -- HHSN26120080001E/PHS HHS/ -- P01 HG004120/HG/NHGRI NIH HHS/ -- R01 GM100233/GM/NIGMS NIH HHS/ -- R01 HG002385/HG/NHGRI NIH HHS/ -- R01 HG006399/HG/NHGRI NIH HHS/ -- Howard Hughes Medical Institute/ -- Intramural NIH HHS/ -- England -- Nature. 2014 Sep 18;513(7518):409-13. doi: 10.1038/nature13673.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. [2] Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. ; Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. ; Institute for Archaeological Sciences, University of Tubingen, Tubingen 72074, Germany. ; Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany. ; Institute of Anthropology, Johannes Gutenberg University Mainz, Mainz D-55128, Germany. ; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. ; 1] Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. [2] Department of Integrative Biology, University of California, Berkeley, California 94720-3140, USA. ; Department of Mathematics and Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA. ; 1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. [2] Department of Mathematics and Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA. ; Archaeological Research Laboratory, Stockholm University, 114 18, Sweden. ; 1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. [2] Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany. [3] Key Laboratory of Vertebrate Evolution and Human Origins of Chinese Academy of Sciences, IVPP, CAS, Beijing 100049, China. ; Australian Centre for Ancient DNA and Environment Institute, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, South Australia 5005, Australia. ; The Cultural Heritage Foundation, Vasteras 722 12, Sweden. ; 1] National Museum of Natural History, L-2160, Luxembourg. [2] National Center of Archaeological Research, National Museum of History and Art, L-2345, Luxembourg. ; Department of Paleoanthropology, Senckenberg Center for Human Evolution and Paleoenvironment, University of Tubingen, Tubingen D-72070, Germany. ; National Museum of Natural History, L-2160, Luxembourg. ; State Office for Cultural Heritage Management Baden-Wurttemberg, Osteology, Konstanz D-78467, Germany. ; Center for Global Health and Child Development, Kisumu 40100, Kenya. ; 1] Institutes of Evolution, Immunology and Infection Research, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, UK. [2] Biochemistry Department, Faculty of Medicine, Sultan Qaboos University, Alkhod, Muscat 123, Oman. ; Laboratorio de Genetica Molecular Poblacional, Instituto Multidisciplinario de Biologia Celular (IMBICE), CCT-CONICET &CICPBA, La Plata, B1906APO, Argentina. ; Research Centre for Medical Genetics, Moscow 115478, Russia. ; 1] Research Centre for Medical Genetics, Moscow 115478, Russia. [2] Vavilov Institute for General Genetics, Moscow 119991, Russia. ; Escuela de Biologia, Universidad de Costa Rica, San Jose 2060, Costa Rica. ; Institute of Biology, Research group GENMOL, Universidad de Antioquia, Medellin, Colombia. ; Rambam Health Care Campus, Haifa 31096, Israel. ; Department of Medical Genetics and Szentagothai Research Center, University of Pecs, Pecs H-7624, Hungary. ; Al Akhawayn University in Ifrane (AUI), School of Science and Engineering, Ifrane 53000, Morocco. ; Forensic Genetics Laboratory, Institute of Legal Medicine, Universita Cattolica del Sacro Cuore, Rome 00168, Italy. ; 1] Department of Zoology, University of Oxford, Oxford OX1 3PS, UK. [2] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK. ; Laboratorio di Genetica Molecolare, IRCCS Associazione Oasi Maria SS, Troina 94018, Italy. ; Belgorod State University, Belgorod 308015, Russia. ; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario M5G 1L5, Canada. ; Servicio de Huellas Digitales Geneticas, School of Pharmacy and Biochemistry, Universidad de Buenos Aires, 1113 CABA, Argentina. ; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia. ; Institute of Linguistics, University of Bern, Bern CH-3012, Switzerland. ; Laboratory of Human Molecular Genetics, Institute of Molecular and Cellular Biology, Russian Academy of Science, Siberian Branch, Novosibirsk 630090, Russia. ; Anthropologie Moleculaire et Imagerie de Synthese, CNRS UMR 5288, Universite Paul Sabatier Toulouse III, Toulouse 31000, France. ; North-Eastern Federal University and Yakut Research Center of Complex Medical Problems, Yakutsk 677013, Russia. ; Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA. ; ARL Division of Biotechnology, University of Arizona, Tucson, Arizona 85721, USA. ; Department of Ecology and Evolution, Stony Brook University, Stony Brook, New York 11794, USA. ; Department of Clinical Science, University of Bergen, Bergen 5021, Norway. ; NextBio, Illumina, Santa Clara, California 95050, USA. ; Department of Medical Genetics, National Human Genome Center, Medical University Sofia, Sofia 1431, Bulgaria. ; 1] Institute of Biochemistry and Genetics, Ufa Research Centre, Russian Academy of Sciences, Ufa 450054, Russia. [2] Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa 450074, Russia. ; College of Medicine, University of Arizona, Tucson, Arizona 85724, USA. ; Division of Biological Anthropology, University of Cambridge, Cambridge CB2 1QH, UK. ; Department of Integrative Biology, University of California, Berkeley, California 94720-3140, USA. ; Department of Human and Medical Genetics, Vilnius University, Vilnius LT-08661, Lithuania. ; Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia. ; Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch 67404, France. ; 1] Institute of Biochemistry and Genetics, Ufa Research Centre, Russian Academy of Sciences, Ufa 450054, Russia. [2] Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa 450074, Russia. [3] Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia. ; 1] Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK. [2] Amgen, 33 Kazantzaki Str, Ilioupolis 16342, Athens, Greece (T.L.); Banaras Hindu University, Varanasi 221 005, India (L.S.). ; Gladstone Institutes, San Francisco, California 94158, USA. ; Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia. ; Centro de Investigaciones Biomedicas de Guatemala, Ciudad de Guatemala, Guatemala. ; Research Department, 23andMe, Mountain View, California 94043, USA. ; Cultural Anthropology Program, University of Oulu, Oulu 90014, Finland. ; Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam 65001, Tanzania. ; Research Institute of Health, North-Eastern Federal University, Yakutsk 677000, Russia. ; Dipartimento di Fisica e Chimica, Universita di Palermo, Palermo 90128, Italy. ; 1] Instituto de Alta Investigacion, Universidad de Tarapaca, Arica 1000000, Chile. [2] Programa de Genetica Humana ICBM Facultad de Medicina Universidad de Chile, Santiago 8320000, Chile. [3] Centro de Investigaciones del Hombre en el Desierto, Arica 1000000, Chile. ; Centre for Population Health Sciences, The University of Edinburgh Medical School, Edinburgh EH8 9AG, UK. ; 1] Institute of Immunology, Academy of Science, Tashkent 70000, Uzbekistan. [2]. ; 1] Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia. [2] Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences of Armenia, Yerevan 0014, Armenia. ; 1] Department of Forensic Medicine, Hjelt Institute, University of Helsinki, Helsinki 00014, Finland. [2] Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, Fort Worth, Texas 76107, USA. ; Unidade de Xenetica, Departamento de Anatomia Patoloxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenomica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Galcia 15872, Spain. ; Research Fellow, Henry Stewart Group, Russell House, London WC1A 2HN, UK. ; Institute of Bioorganic Chemistry Academy of Sciences Republic of Uzbekistan, Tashkent 100125, Uzbekistan. ; Department of Genetics and Cytology, V. N. Karazin Kharkiv National University, Kharkiv 61077, Ukraine. ; 1] Instituto Boliviano de Biologia de la Altura, Universidad Mayor de San Andres, 591 2 La Paz, Bolivia. [2] UniversidadAutonoma Tomas Frias, Potosi, Bolivia. ; 1] Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia. [2] Institute of Internal Medicine, Siberian Branch of Russian Academy of Medical Sciences, Novosibirsk 630089, Russia. [3] Novosibirsk State University, Novosibirsk 630090, Russia. ; Basic Research Laboratory, NCI, NIH, Frederick National Laboratory, Leidos Biomedical, Frederick, Maryland 21702, USA. ; Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences of Armenia, Yerevan 0014, Armenia. ; 1] Lebanese American University, School of Medicine, Beirut 13-5053, Lebanon. [2] Harvard School of Public Health, Boston, Massachusetts 02115, USA. ; Department of Medical Biology, University of Split, School of Medicine, Split 21000, Croatia. ; Department of Zoology, University of Oxford, Oxford OX1 3PS, UK. ; Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK. ; Department of Biology and Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. ; 1] CSIR-Centre for Cellular and Molecular Biology, Hyderabad 500 007, India. [2] Amgen, 33 Kazantzaki Str, Ilioupolis 16342, Athens, Greece (T.L.); Banaras Hindu University, Varanasi 221 005, India (L.S.). ; CSIR-Centre for Cellular and Molecular Biology, Hyderabad 500 007, India. ; 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. ; Institut de Biologia Evolutiva (CSIC-UPF), Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain. ; 1] Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA. ; 1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. [2] Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA. [3] Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA. ; 1] Institute for Archaeological Sciences, University of Tubingen, Tubingen 72074, Germany. [2] Senckenberg Centre for Human Evolution and Palaeoenvironment, University of Tubingen, 72070 Tubingen, Germany. [3] Max Planck Institut fur Geschichte und Naturwissenschaften, Jena 07745, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25230663" target="_blank"〉PubMed〈/a〉

Description: The Paleo-Eskimo Saqqaq and Independence I cultures, documented from archaeological remains in Northern Canada and Greenland, represent the earliest human expansion into the New World's northern extremes. However, their origin and genetic relationship to later cultures are unknown. We sequenced a mitochondrial genome from a Paleo-Eskimo human by using 3400-to 4500-year-old frozen hair excavated from an early Greenlandic Saqqaq settlement. The sample is distinct from modern Native Americans and Neo-Eskimos, falling within haplogroup D2a1, a group previously observed among modern Aleuts and Siberian Sireniki Yuit. This result suggests that the earliest migrants into the New World's northern extremes derived from populations in the Bering Sea area and were not directly related to Native Americans or the later Neo-Eskimos that replaced them.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Gilbert, M Thomas P -- Kivisild, Toomas -- Gronnow, Bjarne -- Andersen, Pernille K -- Metspalu, Ene -- Reidla, Maere -- Tamm, Erika -- Axelsson, Erik -- Gotherstrom, Anders -- Campos, Paula F -- Rasmussen, Morten -- Metspalu, Mait -- Higham, Thomas F G -- Schwenninger, Jean-Luc -- Nathan, Roger -- De Hoog, Cees-Jan -- Koch, Anders -- Moller, Lone Nukaaraq -- Andreasen, Claus -- Meldgaard, Morten -- Villems, Richard -- Bendixen, Christian -- Willerslev, Eske -- New York, N.Y. -- Science. 2008 Jun 27;320(5884):1787-9. doi: 10.1126/science.1159750. Epub 2008 May 29.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Center for Ancient Genetics, Department of Biology, Universitetsparken 15, DK-2100 Copenhagen, Denmark.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18511654" target="_blank"〉PubMed〈/a〉