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      Genome flux and stasis in a five millennium transect of European prehistory

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          Abstract

          The Great Hungarian Plain was a crossroads of cultural transformations that have shaped European prehistory. Here we analyse a 5,000-year transect of human genomes, sampled from petrous bones giving consistently excellent endogenous DNA yields, from 13 Hungarian Neolithic, Copper, Bronze and Iron Age burials including two to high (~22 × ) and seven to ~1 × coverage, to investigate the impact of these on Europe’s genetic landscape. These data suggest genomic shifts with the advent of the Neolithic, Bronze and Iron Ages, with interleaved periods of genome stability. The earliest Neolithic context genome shows a European hunter-gatherer genetic signature and a restricted ancestral population size, suggesting direct contact between cultures after the arrival of the first farmers into Europe. The latest, Iron Age, sample reveals an eastern genomic influence concordant with introduced Steppe burial rites. We observe transition towards lighter pigmentation and surprisingly, no Neolithic presence of lactase persistence.

          Abstract

          Recent advances in high-throughput sequencing techniques have enabled the analysis of ancient human genomes. Here the authors sequence ancient human genomes that span a period of 5,000 years, to understand the ancestral influence on Europe's genetic landscape.

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          Most cited references29

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          A high-coverage genome sequence from an archaic Denisovan individual.

          We present a DNA library preparation method that has allowed us to reconstruct a high-coverage (30×) genome sequence of a Denisovan, an extinct relative of Neandertals. The quality of this genome allows a direct estimation of Denisovan heterozygosity indicating that genetic diversity in these archaic hominins was extremely low. It also allows tentative dating of the specimen on the basis of "missing evolution" in its genome, detailed measurements of Denisovan and Neandertal admixture into present-day human populations, and the generation of a near-complete catalog of genetic changes that swept to high frequency in modern humans since their divergence from Denisovans.
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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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              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
                Nat Commun
                Nat Commun
                Nature Communications
                Nature Pub. Group
                2041-1723
                21 October 2014
                : 5
                : 5257
                Affiliations
                [1 ]School of Archaeology, University College Dublin , Belfield, Dublin 4, Ireland
                [2 ]Conway Institute, University College Dublin , Belfield, Dublin 4, Ireland
                [3 ]Smurfit Institute of Genetics, Trinity College Dublin , Dublin, Ireland
                [4 ]Institute of Biochemistry and Biology, University of Potsdam , Karl-Liebknecht-Straße 24-25, 14476 Potsdam, Germany
                [5 ]Dobó István Castle Museum , Vár utca 1, H-3300 Eger, Hungary
                [6 ]JPAC-Central Identification Laboratory , 310 Worchester Avenue, Building. 45 Joint Base Pearl Harbor-Hickam, Honalulu, Hawaii 96853-5530, USA
                [7 ]Department of Anthropology, Hungarian Natural History Museum , Ludovika tér 2-6, 1083 Budapest, Hungary
                [8 ]Eötvös Loránd University, Faculty of Humanities, Institute of Archaeological Sciences , Múzeum körút 4/b, H-1o88 Budapest, Hungary
                [9 ]Department of Archaeology and Conservation, Cardiff University , Cardiff CF10 3EU, UK
                [10 ]Déri Museum , Déri tér 1, H-4026 Debrecen, Hungary
                [11 ]Oxford Radiocarbon Accelerator Unit, Research Laboratory for Archaeology and the History of Art, University of Oxford , Dyson Perrins Building, South Parks Road, OX1 3QY Oxford, UK
                [12 ]Earth Institute, University College Dublin , Belfield, Dublin 4, Ireland
                Author notes
                [*]

                These authors contributed equally to this work

                Article
                ncomms6257
                10.1038/ncomms6257
                4218962
                25334030
                7618f1ac-297a-4eca-8456-22900c4c9db3
                Copyright © 2014, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.

                This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

                History
                : 04 April 2014
                : 11 September 2014
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