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Nature. 2014 Sep 18;513(7518):409-13. doi: 10.1038/nature13673.

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

Lazaridis I1, Patterson N2, Mittnik A3, Renaud G4, Mallick S1, Kirsanow K5, Sudmant PH6, Schraiber JG7, Castellano S4, Lipson M8, Berger B9, Economou C10, Bollongino R5, Fu Q11, Bos KI3, Nordenfelt S1, Li H1, de Filippo C4, Prüfer K4, Sawyer S4, Posth C3, Haak W12, Hallgren F13, Fornander E13, Rohland N1, Delsate D14, Francken M15, Guinet JM16, Wahl J17, Ayodo G18, Babiker HA19, Bailliet G20, Balanovska E21, Balanovsky O22, Barrantes R23, Bedoya G24, Ben-Ami H25, Bene J26, Berrada F27, Bravi CM20, Brisighelli F28, Busby GB29, Cali F30, Churnosov M31, Cole DE32, Corach D33, Damba L34, van Driem G35, Dryomov S36, Dugoujon JM37, Fedorova SA38, Gallego Romero I39, Gubina M34, Hammer M40, Henn BM41, Hervig T42, Hodoglugil U43, Jha AR39, Karachanak-Yankova S44, Khusainova R45, Khusnutdinova E45, Kittles R46, Kivisild T47, Klitz W48, Kučinskas V49, Kushniarevich A50, Laredj L51, Litvinov S52, Loukidis T53, Mahley RW54, Melegh B26, Metspalu E55, Molina J56, Mountain J57, Näkkäläjärvi K58, Nesheva D44, Nyambo T59, Osipova L34, Parik J55, Platonov F60, Posukh O34, Romano V61, Rothhammer F62, Rudan I63, Ruizbakiev R64, Sahakyan H65, Sajantila A66, Salas A67, Starikovskaya EB36, Tarekegn A68, Toncheva D44, Turdikulova S69, Uktveryte I49, Utevska O70, Vasquez R71, Villena M71, Voevoda M72, Winkler CA73, Yepiskoposyan L74, Zalloua P75, Zemunik T76, Cooper A12, Capelli C77, Thomas MG78, Ruiz-Linares A78, Tishkoff SA79, Singh L80, Thangaraj K81, Villems R82, Comas D83, Sukernik R36, Metspalu M50, Meyer M4, Eichler EE84, Burger J5, Slatkin M48, Pääbo S4, Kelso J4, Reich D85, Krause J86.

Author information

1
1] Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. [2] Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.
2
Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.
3
Institute for Archaeological Sciences, University of Tübingen, Tübingen 72074, Germany.
4
Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany.
5
Institute of Anthropology, Johannes Gutenberg University Mainz, Mainz D-55128, Germany.
6
Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.
7
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.
8
Department of Mathematics and Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.
9
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.
10
Archaeological Research Laboratory, Stockholm University, 114 18, Sweden.
11
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.
12
Australian Centre for Ancient DNA and Environment Institute, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, South Australia 5005, Australia.
13
The Cultural Heritage Foundation, Västerås 722 12, Sweden.
14
1] National Museum of Natural History, L-2160, Luxembourg. [2] National Center of Archaeological Research, National Museum of History and Art, L-2345, Luxembourg.
15
Department of Paleoanthropology, Senckenberg Center for Human Evolution and Paleoenvironment, University of Tübingen, Tübingen D-72070, Germany.
16
National Museum of Natural History, L-2160, Luxembourg.
17
State Office for Cultural Heritage Management Baden-Württemberg, Osteology, Konstanz D-78467, Germany.
18
Center for Global Health and Child Development, Kisumu 40100, Kenya.
19
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.
20
Laboratorio de Genética Molecular Poblacional, Instituto Multidisciplinario de Biología Celular (IMBICE), CCT-CONICET &CICPBA, La Plata, B1906APO, Argentina.
21
Research Centre for Medical Genetics, Moscow 115478, Russia.
22
1] Research Centre for Medical Genetics, Moscow 115478, Russia. [2] Vavilov Institute for General Genetics, Moscow 119991, Russia.
23
Escuela de Biología, Universidad de Costa Rica, San José 2060, Costa Rica.
24
Institute of Biology, Research group GENMOL, Universidad de Antioquia, Medellín, Colombia.
25
Rambam Health Care Campus, Haifa 31096, Israel.
26
Department of Medical Genetics and Szentagothai Research Center, University of Pécs, Pécs H-7624, Hungary.
27
Al Akhawayn University in Ifrane (AUI), School of Science and Engineering, Ifrane 53000, Morocco.
28
Forensic Genetics Laboratory, Institute of Legal Medicine, Università Cattolica del Sacro Cuore, Rome 00168, Italy.
29
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.
30
Laboratorio di Genetica Molecolare, IRCCS Associazione Oasi Maria SS, Troina 94018, Italy.
31
Belgorod State University, Belgorod 308015, Russia.
32
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario M5G 1L5, Canada.
33
Servicio de Huellas Digitales Genéticas, School of Pharmacy and Biochemistry, Universidad de Buenos Aires, 1113 CABA, Argentina.
34
Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia.
35
Institute of Linguistics, University of Bern, Bern CH-3012, Switzerland.
36
Laboratory of Human Molecular Genetics, Institute of Molecular and Cellular Biology, Russian Academy of Science, Siberian Branch, Novosibirsk 630090, Russia.
37
Anthropologie Moléculaire et Imagerie de Synthèse, CNRS UMR 5288, Université Paul Sabatier Toulouse III, Toulouse 31000, France.
38
North-Eastern Federal University and Yakut Research Center of Complex Medical Problems, Yakutsk 677013, Russia.
39
Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.
40
ARL Division of Biotechnology, University of Arizona, Tucson, Arizona 85721, USA.
41
Department of Ecology and Evolution, Stony Brook University, Stony Brook, New York 11794, USA.
42
Department of Clinical Science, University of Bergen, Bergen 5021, Norway.
43
NextBio, Illumina, Santa Clara, California 95050, USA.
44
Department of Medical Genetics, National Human Genome Center, Medical University Sofia, Sofia 1431, Bulgaria.
45
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.
46
College of Medicine, University of Arizona, Tucson, Arizona 85724, USA.
47
Division of Biological Anthropology, University of Cambridge, Cambridge CB2 1QH, UK.
48
Department of Integrative Biology, University of California, Berkeley, California 94720-3140, USA.
49
Department of Human and Medical Genetics, Vilnius University, Vilnius LT-08661, Lithuania.
50
Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia.
51
Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67404, France.
52
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.
53
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.).
54
Gladstone Institutes, San Francisco, California 94158, USA.
55
Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
56
Centro de Investigaciones Biomédicas de Guatemala, Ciudad de Guatemala, Guatemala.
57
Research Department, 23andMe, Mountain View, California 94043, USA.
58
Cultural Anthropology Program, University of Oulu, Oulu 90014, Finland.
59
Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam 65001, Tanzania.
60
Research Institute of Health, North-Eastern Federal University, Yakutsk 677000, Russia.
61
Dipartimento di Fisica e Chimica, Università di Palermo, Palermo 90128, Italy.
62
1] Instituto de Alta Investigación, Universidad de Tarapacá, Arica 1000000, Chile. [2] Programa de Genética Humana ICBM Facultad de Medicina Universidad de Chile, Santiago 8320000, Chile. [3] Centro de Investigaciones del Hombre en el Desierto, Arica 1000000, Chile.
63
Centre for Population Health Sciences, The University of Edinburgh Medical School, Edinburgh EH8 9AG, UK.
64
1] Institute of Immunology, Academy of Science, Tashkent 70000, Uzbekistan. [2].
65
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.
66
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.
67
Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Galcia 15872, Spain.
68
Research Fellow, Henry Stewart Group, Russell House, London WC1A 2HN, UK.
69
Institute of Bioorganic Chemistry Academy of Sciences Republic of Uzbekistan, Tashkent 100125, Uzbekistan.
70
Department of Genetics and Cytology, V. N. Karazin Kharkiv National University, Kharkiv 61077, Ukraine.
71
1] Instituto Boliviano de Biología de la Altura, Universidad Mayor de San Andrés, 591 2 La Paz, Bolivia. [2] UniversidadAutonoma Tomás Frías, Potosí, Bolivia.
72
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.
73
Basic Research Laboratory, NCI, NIH, Frederick National Laboratory, Leidos Biomedical, Frederick, Maryland 21702, USA.
74
Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences of Armenia, Yerevan 0014, Armenia.
75
1] Lebanese American University, School of Medicine, Beirut 13-5053, Lebanon. [2] Harvard School of Public Health, Boston, Massachusetts 02115, USA.
76
Department of Medical Biology, University of Split, School of Medicine, Split 21000, Croatia.
77
Department of Zoology, University of Oxford, Oxford OX1 3PS, UK.
78
Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.
79
Department of Biology and Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
80
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.).
81
CSIR-Centre for Cellular and Molecular Biology, Hyderabad 500 007, India.
82
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.
83
Institut de Biologia Evolutiva (CSIC-UPF), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain.
84
1] Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA.
85
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.
86
1] Institute for Archaeological Sciences, University of Tübingen, Tübingen 72074, Germany. [2] Senckenberg Centre for Human Evolution and Palaeoenvironment, University of Tübingen, 72070 Tübingen, Germany. [3] Max Planck Institut für Geschichte und Naturwissenschaften, Jena 07745, Germany.

Abstract

We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼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 ∼44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.

PMID:
25230663
PMCID:
PMC4170574
DOI:
10.1038/nature13673
[Indexed for MEDLINE]
Free PMC Article
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