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Eight thousand years of natural selection in Europe

Iain Mathieson, Iosif Lazaridis, Nadin Rohland, Swapan Mallick, Nick Patterson, Songül Alpaslan Roodenberg, Eadaoin Harney, Kristin Stewardson, Daniel Fernandes, Mario Novak, Kendra Sirak, Cristina Gamba, Eppie R. Jones, Bastien Llamas, Stanislav Dryomov, Joseph Pickrell, Juan Luís Arsuaga, José María Bermúdez de Castro, Eudald Carbonell, Fokke Gerritsen, Aleksandr Khokhlov, Pavel Kuznetsov, Marina Lozano, Harald Meller, Oleg Mochalov, Vayacheslav Moiseyev, Manuel A. Rojo Guerra, Jacob Roodenberg, Josep Maria Vergès, Johannes Krause, Alan Cooper, Kurt W. Alt, Dorcas Brown, David Anthony, Carles Lalueza-Fox, Wolfgang Haak, Ron Pinhasi, David Reich
doi: https://doi.org/10.1101/016477
Iain Mathieson
1Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
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Iosif Lazaridis
1Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
2Broad Institute of MIT and Harvard, Cambridge Massachusetts 02142, USA
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Nadin Rohland
1Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
2Broad Institute of MIT and Harvard, Cambridge Massachusetts 02142, USA
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Swapan Mallick
1Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
2Broad Institute of MIT and Harvard, Cambridge Massachusetts 02142, USA
3Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
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Nick Patterson
2Broad Institute of MIT and Harvard, Cambridge Massachusetts 02142, USA
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Songül Alpaslan Roodenberg
4Independent researcher, Santpoort-Noord, The Netherlands
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Eadaoin Harney
1Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
3Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
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Kristin Stewardson
1Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
3Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
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Daniel Fernandes
5School of Archaeology and Earth Institute, Belfield, University College Dublin, Dublin 4, Ireland
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Mario Novak
5School of Archaeology and Earth Institute, Belfield, University College Dublin, Dublin 4, Ireland
6Institute for Anthropological Research, Zagreb 10000, Croatia
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Kendra Sirak
5School of Archaeology and Earth Institute, Belfield, University College Dublin, Dublin 4, Ireland
7Department of Anthropology, Emory University, Atlanta, Georgia, USA
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Cristina Gamba
5School of Archaeology and Earth Institute, Belfield, University College Dublin, Dublin 4, Ireland
8Current address: Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Øster Voldgade 5-7, 1350 Copenhagen, Denmark
9Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland
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Eppie R. Jones
9Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland
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Bastien Llamas
10Australian Centre for Ancient DNA, School of Earth and Environmental Sciences & Environment Institute, University of Adelaide, Adelaide, South Australia 5005, Australia
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Stanislav Dryomov
11Laboratory of Human Molecular Genetics, Institute of Molecular and Cellular Biology, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia
12Department of Paleolithic Archaeology, Institute of Archaeology and Ethnography, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia
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Joseph Pickrell
1Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
13Current Address: New York Genome Center, New York NY, USA
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Juan Luís Arsuaga
14Centro Mixto UCM-ISCIII de Evolución y Comportamiento Humanos, Madrid, Spain.
15Departamento de Paleontología, Facultad Ciencias Geológicas, Universidad Complutense de Madrid, Spain.
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José María Bermúdez de Castro
16Centro Nacional de Investigacíon sobre Evolución Humana (CENIEH), 09002 Burgos, Spain
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Eudald Carbonell
17IPHES. Institut Catalá de Paleoecologia Humana i Evolució Social, Campus Sescelades-URV, 43007. Tarragona, Spain.
18Area de Prehistoria, Universitat Rovira i Virgili (URV), 43002 Tarragona, Spain.
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Fokke Gerritsen
19Netherlands Institute in Turkey, Istiklal Caddesi, Nur-i Ziya Sokak 5, Beyoğlu, Istanbul, Turkey
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Aleksandr Khokhlov
20Volga State Academy of Social Sciences and Humanities, Samara 443099, Russia
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Pavel Kuznetsov
20Volga State Academy of Social Sciences and Humanities, Samara 443099, Russia
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Marina Lozano
17IPHES. Institut Catalá de Paleoecologia Humana i Evolució Social, Campus Sescelades-URV, 43007. Tarragona, Spain.
18Area de Prehistoria, Universitat Rovira i Virgili (URV), 43002 Tarragona, Spain.
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Harald Meller
21State Office for Heritage Management and Archaeology Saxony-Anhalt and State Museum of Prehistory, D-06114 Halle, Germany
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Oleg Mochalov
20Volga State Academy of Social Sciences and Humanities, Samara 443099, Russia
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Vayacheslav Moiseyev
22Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) RAS, St Petersburg, 199034, Russia
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Manuel A. Rojo Guerra
23Department of Prehistory and Archaeology, University of Valladolid, Spain
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Jacob Roodenberg
24The Netherlands Institute for the Near East, Leiden, RA-2300, The Netherlands
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Josep Maria Vergès
17IPHES. Institut Catalá de Paleoecologia Humana i Evolució Social, Campus Sescelades-URV, 43007. Tarragona, Spain.
18Area de Prehistoria, Universitat Rovira i Virgili (URV), 43002 Tarragona, Spain.
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Johannes Krause
25Max Planck Institute for the Science of Human History, D-07745 Jena, Germany
26Institute for Archaeological Sciences, University of Tübingen, D-72070 Tübingen, Germany
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Alan Cooper
10Australian Centre for Ancient DNA, School of Earth and Environmental Sciences & Environment Institute, University of Adelaide, Adelaide, South Australia 5005, Australia
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Kurt W. Alt
21State Office for Heritage Management and Archaeology Saxony-Anhalt and State Museum of Prehistory, D-06114 Halle, Germany
27Danube Private University, A-3500 Krems, Austria
28Institute for Prehistory and Archaeological Science, University of Basel, CH-4003 Basel, Switzerland
29Institute of Anthropology, Johannes Gutenberg University of Mainz, D-55128 Mainz, Germany
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Dorcas Brown
30Anthropology Department, Hartwick College, Oneonta, New York 13820, USA
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David Anthony
30Anthropology Department, Hartwick College, Oneonta, New York 13820, USA
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Carles Lalueza-Fox
31Institute of Evolutionary Biology (CSIC-Universitat Pompeu Fabra), Barcelona, Spain
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Wolfgang Haak
10Australian Centre for Ancient DNA, School of Earth and Environmental Sciences & Environment Institute, University of Adelaide, Adelaide, South Australia 5005, Australia
25Max Planck Institute for the Science of Human History, D-07745 Jena, Germany
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Ron Pinhasi
5School of Archaeology and Earth Institute, Belfield, University College Dublin, Dublin 4, Ireland
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David Reich
1Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
2Broad Institute of MIT and Harvard, Cambridge Massachusetts 02142, USA
3Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
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Abstract

The arrival of farming in Europe around 8,500 years ago necessitated adaptation to new environments, pathogens, diets, and social organizations. While indirect evidence of adaptation can be detected in patterns of genetic variation in present-day people, ancient DNA makes it possible to witness selection directly by analyzing samples from populations before, during and after adaptation events. Here we report the first genome-wide scan for selection using ancient DNA, capitalizing on the largest genome-wide dataset yet assembled: 230 West Eurasians dating to between 6500 and 1000 BCE, including 163 with newly reported data. The new samples include the first genome-wide data from the Anatolian Neolithic culture, who we show were members of the population that was the source of Europe’s first farmers, and whose genetic material we extracted by focusing on the DNA-rich petrous bone. We identify genome-wide significant signatures of selection at loci associated with diet, pigmentation and immunity, and two independent episodes of selection on height.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted October 10, 2015.
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Eight thousand years of natural selection in Europe
Iain Mathieson, Iosif Lazaridis, Nadin Rohland, Swapan Mallick, Nick Patterson, Songül Alpaslan Roodenberg, Eadaoin Harney, Kristin Stewardson, Daniel Fernandes, Mario Novak, Kendra Sirak, Cristina Gamba, Eppie R. Jones, Bastien Llamas, Stanislav Dryomov, Joseph Pickrell, Juan Luís Arsuaga, José María Bermúdez de Castro, Eudald Carbonell, Fokke Gerritsen, Aleksandr Khokhlov, Pavel Kuznetsov, Marina Lozano, Harald Meller, Oleg Mochalov, Vayacheslav Moiseyev, Manuel A. Rojo Guerra, Jacob Roodenberg, Josep Maria Vergès, Johannes Krause, Alan Cooper, Kurt W. Alt, Dorcas Brown, David Anthony, Carles Lalueza-Fox, Wolfgang Haak, Ron Pinhasi, David Reich
bioRxiv 016477; doi: https://doi.org/10.1101/016477
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Eight thousand years of natural selection in Europe
Iain Mathieson, Iosif Lazaridis, Nadin Rohland, Swapan Mallick, Nick Patterson, Songül Alpaslan Roodenberg, Eadaoin Harney, Kristin Stewardson, Daniel Fernandes, Mario Novak, Kendra Sirak, Cristina Gamba, Eppie R. Jones, Bastien Llamas, Stanislav Dryomov, Joseph Pickrell, Juan Luís Arsuaga, José María Bermúdez de Castro, Eudald Carbonell, Fokke Gerritsen, Aleksandr Khokhlov, Pavel Kuznetsov, Marina Lozano, Harald Meller, Oleg Mochalov, Vayacheslav Moiseyev, Manuel A. Rojo Guerra, Jacob Roodenberg, Josep Maria Vergès, Johannes Krause, Alan Cooper, Kurt W. Alt, Dorcas Brown, David Anthony, Carles Lalueza-Fox, Wolfgang Haak, Ron Pinhasi, David Reich
bioRxiv 016477; doi: https://doi.org/10.1101/016477

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