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      Genome-wide data from two early Neolithic East Asian individuals dating to 7700 years ago

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          Abstract

          Early Neolithic (~7700-year-old) genetic data from the Russian Far East implies a high level of genetic continuity in this region.

          Abstract

          Ancient genomes have revolutionized our understanding of Holocene prehistory and, particularly, the Neolithic transition in western Eurasia. In contrast, East Asia has so far received little attention, despite representing a core region at which the Neolithic transition took place independently ~3 millennia after its onset in the Near East. We report genome-wide data from two hunter-gatherers from Devil’s Gate, an early Neolithic cave site (dated to ~7.7 thousand years ago) located in East Asia, on the border between Russia and Korea. Both of these individuals are genetically most similar to geographically close modern populations from the Amur Basin, all speaking Tungusic languages, and, in particular, to the Ulchi. The similarity to nearby modern populations and the low levels of additional genetic material in the Ulchi imply a high level of genetic continuity in this region during the Holocene, a pattern that markedly contrasts with that reported for Europe.

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          Ancient human genomes suggest three ancestral populations for present-day Europeans

          We sequenced genomes from a $\sim$7,000 year old early farmer from Stuttgart in Germany, an $\sim$8,000 year old hunter-gatherer from Luxembourg, and seven $\sim$8,000 year old hunter-gatherers from southern Sweden. We analyzed these data together with other ancient genomes and 2,345 contemporary humans to show that the great majority of present-day Europeans derive from at least three highly differentiated populations: West European Hunter-Gatherers (WHG), who contributed ancestry to all Europeans but not to Near Easterners; Ancient North Eurasians (ANE), who were most closely related to Upper Paleolithic Siberians and contributed to both Europeans and Near Easterners; and Early European Farmers (EEF), who were mainly of Near Eastern origin but also harbored WHG-related ancestry. We model these populations' deep relationships and show that EEF had $\sim$44% ancestry from a "Basal Eurasian" lineage that split prior to the diversification of all other non-African lineages.
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            Massive migration from the steppe was a source for Indo-European languages in Europe

            We generated genome-wide data from 69 Europeans who lived between 8,000-3,000 years ago by enriching ancient DNA libraries for a target set of almost 400,000 polymorphisms. Enrichment of these positions decreases the sequencing required for genome-wide ancient DNA analysis by a median of around 250-fold, allowing us to study an order of magnitude more individuals than previous studies and to obtain new insights about the past. We show that the populations of Western and Far Eastern Europe followed opposite trajectories between 8,000-5,000 years ago. At the beginning of the Neolithic period in Europe, ∼8,000-7,000 years ago, closely related groups of early farmers appeared in Germany, Hungary and Spain, different from indigenous hunter-gatherers, whereas Russia was inhabited by a distinctive population of hunter-gatherers with high affinity to a ∼24,000-year-old Siberian. By ∼6,000-5,000 years ago, farmers throughout much of Europe had more hunter-gatherer ancestry than their predecessors, but in Russia, the Yamnaya steppe herders of this time were descended not only from the preceding eastern European hunter-gatherers, but also from a population of Near Eastern ancestry. Western and Eastern Europe came into contact ∼4,500 years ago, as the Late Neolithic Corded Ware people from Germany traced ∼75% of their ancestry to the Yamnaya, documenting a massive migration into the heartland of Europe from its eastern periphery. This steppe ancestry persisted in all sampled central Europeans until at least ∼3,000 years ago, and is ubiquitous in present-day Europeans. These results provide support for a steppe origin of at least some of the Indo-European languages of Europe.
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              Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans.

              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 1×. 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.
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                Author and article information

                Journal
                Sci Adv
                Sci Adv
                SciAdv
                advances
                Science Advances
                American Association for the Advancement of Science
                2375-2548
                February 2017
                01 February 2017
                : 3
                : 2
                : e1601877
                Affiliations
                [1 ]Department of Zoology, University of Cambridge, Downing Street, Cambridge CB23EJ, U.K.
                [2 ]Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
                [3 ]The Genomics Institute, Ulsan National Institute of Science and Technology, Ulsan 44919, Republic of Korea.
                [4 ]Geromics, Ulsan 44919, Republic of Korea.
                [5 ]Clinomics Inc., Ulsan 4919, Republic of Korea.
                [6 ]Institute of Ethnology and Anthropology, Russian Academy of Sciences, Moscow, Russia.
                [7 ]Institute for Biochemistry and Biology, Faculty for Mathematics and Natural Sciences, University of Potsdam, Karl-Liebknecht-Str. 24-25, 14476 Potsdam-Golm, Germany.
                [8 ]School of Archaeology and Earth Institute, University College Dublin, Dublin, Ireland.
                Author notes
                [†]

                These authors contributed equally to this work.

                [‡]

                Adjunct professor at Seoul National University, Seoul, Republic of Korea.

                Author information
                http://orcid.org/0000-0002-9273-6984
                http://orcid.org/0000-0003-3498-6018
                http://orcid.org/0000-0003-0441-4705
                http://orcid.org/0000-0001-7335-7092
                http://orcid.org/0000-0003-3436-3726
                http://orcid.org/0000-0003-1629-8131
                http://orcid.org/0000-0002-4228-1299
                http://orcid.org/0000-0003-1895-450X
                Article
                1601877
                10.1126/sciadv.1601877
                5287702
                28164156
                da415f8a-2603-4b72-899d-5ba6bd93c9a4
                Copyright © 2017, The Authors

                This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial license, which permits use, distribution, and reproduction in any medium, so long as the resultant use is not for commercial advantage and provided the original work is properly cited.

                History
                : 10 August 2016
                : 21 December 2016
                Funding
                Funded by: FundRef http://dx.doi.org/10.13039/501100005370, Gates Cambridge Trust;
                Award ID: ID0EDGAK13284
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/501100000781, European Research Council;
                Award ID: ID0E1SAK13285
                Award ID: ADNABIOARC (263441)
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/501100000781, European Research Council;
                Award ID: ID0EU4AK13286
                Award ID: GeneFlow (310763)
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/501100002613, Ulsan National Institute of Science and Technology;
                Award ID: ID0ECJBK13287
                Award ID: Research Fund (1.140113.01)
                Award Recipient :
                Funded by: Civil-Military Technology Cooperation Program;
                Award ID: ID0EEWBK13288
                Award ID: Research Fund (14-BR-SS-03)
                Award Recipient :
                Funded by: Civil-Military Technology Cooperation Program;
                Award ID: ID0ENBCK13289
                Award ID: Research Fund (14-BR-SS-03)
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/501100000268, Biotechnology and Biological Sciences Research Council;
                Award ID: ID0EGGCK13290
                Award ID: DTP
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/501100000781, European Research Council;
                Award ID: ID0E6NCK13845
                Award ID: Consolidator Grant 647787 ‘LocalAdaptation’
                Award Recipient :
                Funded by: FundRef http://dx.doi.org/10.13039/501100000781, European Research Council;
                Award ID: ID0EHTCK13846
                Award ID: Consolidator Grant 647787 ‘LocalAdaptation’
                Award Recipient :
                Categories
                Research Article
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                SciAdv r-articles
                Evolutionary Genetics
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                Nova Morabe

                ancient genetics,east asia,neolithic,russian far east,human population genetics

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