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Ancient human genomes suggest three ancestral populations for present-day Europeans
- Iosif Lazaridis1,2,
- Nick Patterson2,
- Alissa Mittnik3,
- Gabriel Renaud4,
- Swapan Mallick1,2,
- Karola Kirsanow5,
- Peter H. Sudmant6,
- Joshua G. Schraiber6,7,
- Sergi Castellano4,
- Mark Lipson8,
- Bonnie Berger2,8,
- Christos Economou9,
- Ruth Bollongino5,
- Qiaomei Fu1,4,10,
- Kirsten I. Bos3,
- Susanne Nordenfelt1,2,
- Heng Li1,2,
- Cesare de Filippo4,
- Kay Prüfer4,
- Susanna Sawyer4,
- Cosimo Posth3,
- Wolfgang Haak11,
- Fredrik Hallgren12,
- Elin Fornander12,
- Nadin Rohland1,2,
- Dominique Delsate13,14,
- Michael Francken15,
- Jean-Michel Guinet13,
- Joachim Wahl16,
- George Ayodo17,
- Hamza A. Babiker18,19,
- Graciela Bailliet20,
- Elena Balanovska21,
- Oleg Balanovsky21,22,
- Ramiro Barrantes23,
- Gabriel Bedoya24,
- Haim Ben-Ami25,
- Judit Bene26,
- Fouad Berrada27,
- Claudio M. Bravi20,
- Francesca Brisighelli28,
- George B. J. Busby29,30,
- Francesco Cali31,
- Mikhail Churnosov32,
- David E. C. Cole33,
- Daniel Corach34,
- Larissa Damba35,
- George van Driem36,
- Stanislav Dryomov37,
- Jean-Michel Dugoujon38,
- Sardana A. Fedorova39,
- Irene Gallego Romero40,
- Marina Gubina35,
- Michael Hammer41,
- Brenna M. Henn42,
- Tor Hervig43,
- Ugur Hodoglugil44,
- Aashish R. Jha40,
- Sena Karachanak-Yankova45,
- Rita Khusainova46,47,
- Elza Khusnutdinova46,47,
- Rick Kittles48,
- Toomas Kivisild49,
- William Klitz7,
- Vaidutis Kučinskas50,
- Alena Kushniarevich51,
- Leila Laredj52,
- Sergey Litvinov46,47,51,
- Theologos Loukidis53 nAff90,
- Robert W. Mahley54,
- Béla Melegh26,
- Ene Metspalu55,
- Julio Molina56,
- Joanna Mountain57,
- Klemetti Näkkäläjärvi58,
- Desislava Nesheva45,
- Thomas Nyambo59,
- Ludmila Osipova35,
- Jüri Parik55,
- Fedor Platonov60,
- Olga Posukh35,
- Valentino Romano61,
- Francisco Rothhammer62,63,64,
- Igor Rudan65,
- Ruslan Ruizbakiev66 na1,
- Hovhannes Sahakyan51,67,
- Antti Sajantila68,69,
- Antonio Salas70,
- Elena B. Starikovskaya37,
- Ayele Tarekegn71,
- Draga Toncheva45,
- Shahlo Turdikulova72,
- Ingrida Uktveryte50,
- Olga Utevska73,
- René Vasquez74,75,
- Mercedes Villena74,75,
- Mikhail Voevoda35,76,77,
- Cheryl A. Winkler78,
- Levon Yepiskoposyan67,
- Pierre Zalloua79,80,
- Tatijana Zemunik81,
- Alan Cooper11,
- Cristian Capelli29,
- Mark G. Thomas53,
- Andres Ruiz-Linares53,
- Sarah A. Tishkoff82,
- Lalji Singh83 nAff90,
- Kumarasamy Thangaraj83,
- Richard Villems51,55,84,
- David Comas85,
- Rem Sukernik37,
- Mait Metspalu51,
- Matthias Meyer4,
- Evan E. Eichler6,86,
- Joachim Burger5,
- Montgomery Slatkin7,
- Svante Pääbo4,
- Janet Kelso4,
- David Reich1,2,87 &
- …
- Johannes Krause3,88,89
Naturevolume 513, pages409–413 (2014)Cite this article
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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 genomes1,2,3,4 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 Siberians3, 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.
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European Nucleotide Archive
Data deposits
The aligned sequences are available through the European Nucleotide Archive under accession numberPRJEB6272. The fully public version of the Human Origins dataset can be found at (http://genetics.med.harvard.edu/reichlab/Reich_Lab/Datasets.html). The full version of the dataset (including additional samples) is available to researchers who send a signed letter to D.R. indicating that they will abide by specified usage conditions (Supplementary Information section 9).
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Acknowledgements
We thank the 1,615 volunteers from 147 diverse populations who donated DNA samples and whose genetic data are newly reported in this study. We are grateful to C. Beall, N. Bradman, A. Gebremedhin, D. Labuda, M. Nelis and A. Di Rienzo for sharing DNA samples; to D. Weigel, C. Lanz, V. Schünemann, P. Bauer and O. Riess for support and access to DNA sequencing facilities; to P. Johnson for advice on contamination estimation; to G. Hellenthal for help with the ChromoPainter software; and to P. Skoglund for sharing graphics software. We thank K. Nordtvedt for alerting us to newly discovered Y-chromosome SNPs. We downloaded the POPRES data from dbGaP at (http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000145.v4.p2) through dbGaP accession number phs000145.v1.p2. We thank all the volunteers who donated DNA. We thank the staff of the Unità Operativa Complessa di Medicina Trasfusionale, Azienda Ospedaliera Umberto I, Siracusa, Italy for assistance in sample collection; and The National Laboratory for the Genetics of Israeli Populations for facilitating access to DNA. We thank colleagues at the Applied Genomics at the Children’s Hospital of Philadelphia, especially H. Hakonarson, C. Kim, K. Thomas, and C. Hou, for genotyping samples on the Human Origins array. J.Kr., A.M. and C.P. are grateful for support from DFG grant number KR 4015/1-1, the Carl-Zeiss Foundation and the Baden Württemberg Foundation. S.P., G.R., Q.F., C.F., K.P., S.C. and J.Ke. acknowledge support from the Presidential Innovation Fund of the Max Planck Society. G.R. was supported by an NSERC fellowship. J.G.S. acknowledges use of the Extreme Science and Engineering Discovery Environment (XSEDE), which is supported by NSF grant number OCI-1053575. E.B. and O.B. were supported by RFBR grants 13-06-00670, 13-04-01711, 13-04-90420 and by the Molecular and Cell Biology Program of the Presidium, Russian Academy of Sciences. B.M. was supported by grants OTKA 73430 and 103983. A.Saj. was supported by a Finnish Professorpool (Paulo Foundation) Grant. The Lithuanian sampling was supported by the LITGEN project (VP1-3.1-ŠMM-07-K-01-013), funded by the European Social Fund under the Global Grant Measure. A.S. was supported by Spanish grants SAF2011-26983 and EM 2012/045. O.U. was supported by Ukrainian SFFS grant F53.4/071. S.A.T. was supported by NIH Pioneer Award 8DP1ES022577-04 and NSF HOMINID award BCS-0827436. K.T. was supported by an Indian CSIR Network Project (GENESIS: BSC0121). L.S. was supported by an Indian CSIR Bhatnagar Fellowship. R.V., M.M., J.P. and E.M. were supported by the European Union Regional Development Fund through the Centre of Excellence in Genomics to the Estonian Biocentre and University of Tartu and by an Estonian Basic Research grant SF0270177As08. M.M. was additionally supported by Estonian Science Foundation grant number 8973. J.G.S. and M.S. were supported by NIH grant GM40282. P.H.S. and E.E.E. were supported by NIH grants HG004120 and HG002385. D.R. and N.P. were supported by NSF HOMINID award BCS-1032255 and NIH grant GM100233. D.R. and E.E.E. are Howard Hughes Medical Institute investigators. This project has been funded in part with federal funds from the National Cancer Institute, National Institutes of Health, under contract HHSN26120080001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government. This Research was supported in part by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research.
Author information
Theologos Loukidis & Lalji Singh
Present address: Present addresses: Amgen, 33 Kazantzaki Str, Ilioupolis 16342, Athens, Greece (T.L.); Banaras Hindu University, Varanasi 221 005, India (L.S.).,
Ruslan Ruizbakiev: Deceased.
Authors and Affiliations
Department of Genetics, Harvard Medical School, Boston, 02115, Massachusetts, USA
Iosif Lazaridis, Swapan Mallick, Qiaomei Fu, Susanne Nordenfelt, Heng Li, Nadin Rohland & David Reich
Broad Institute of Harvard and MIT, Cambridge, 02142, Massachusetts, USA
Iosif Lazaridis, Nick Patterson, Swapan Mallick, Bonnie Berger, Susanne Nordenfelt, Heng Li, Nadin Rohland & David Reich
Institute for Archaeological Sciences, University of Tübingen, Tübingen, 72074, Germany
Alissa Mittnik, Kirsten I. Bos, Cosimo Posth & Johannes Krause
Max Planck Institute for Evolutionary Anthropology, Leipzig, 04103, Germany
Gabriel Renaud, Sergi Castellano, Qiaomei Fu, Cesare de Filippo, Kay Prüfer, Susanna Sawyer, Matthias Meyer, Svante Pääbo & Janet Kelso
Institute of Anthropology, Johannes Gutenberg University Mainz, Mainz D-55128, Germany.,
Karola Kirsanow, Ruth Bollongino & Joachim Burger
Department of Genome Sciences, University of Washington, Seattle, Washington, 98195, USA
Peter H. Sudmant, Joshua G. Schraiber & Evan E. Eichler
Department of Integrative Biology, University of California, Berkeley, 94720-3140, California, USA
Joshua G. Schraiber, William Klitz & Montgomery Slatkin
Department of Mathematics and Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, 02139, Massachusetts, USA
Mark Lipson & Bonnie Berger
Archaeological Research Laboratory, Stockholm University, 114 18, Sweden.,
Christos Economou
Key Laboratory of Vertebrate Evolution and Human Origins of Chinese Academy of Sciences, IVPP, CAS, Beijing 100049, China.,
Qiaomei Fu
Australian Centre for Ancient DNA and Environment Institute, School of Earth and Environmental Sciences, University of Adelaide, Adelaide, 5005, South Australia, Australia
Wolfgang Haak & Alan Cooper
The Cultural Heritage Foundation, Västerås 722 12, Sweden.,
Fredrik Hallgren & Elin Fornander
National Museum of Natural History, L-2160, Luxembourg.,
Dominique Delsate & Jean-Michel Guinet
National Center of Archaeological Research, National Museum of History and Art, L-2345, Luxembourg.,
Dominique Delsate
Department of Paleoanthropology, Senckenberg Center for Human Evolution and Paleoenvironment, University of Tübingen, Tübingen D-72070, Germany.,
Michael Francken
State Office for Cultural Heritage Management Baden-Württemberg, Osteology, Konstanz D-78467, Germany.,
Joachim Wahl
Center for Global Health and Child Development, Kisumu 40100, Kenya.,
George Ayodo
Institutes of Evolution, Immunology and Infection Research, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, UK.,
Hamza A. Babiker
Biochemistry Department, Faculty of Medicine, Sultan Qaboos University, Alkhod, Muscat 123, Oman.,
Hamza A. Babiker
Laboratorio de Genética Molecular Poblacional, Instituto Multidisciplinario de Biología Celular (IMBICE), CCT-CONICET & CICPBA, La Plata, B1906APO, Argentina.,
Graciela Bailliet & Claudio M. Bravi
Research Centre for Medical Genetics, Moscow 115478, Russia.,
Elena Balanovska & Oleg Balanovsky
Vavilov Institute for General Genetics, Moscow 119991, Russia.,
Oleg Balanovsky
Escuela de Biología, Universidad de Costa Rica, San José 2060, Costa Rica.,
Ramiro Barrantes
Institute of Biology, Research group GENMOL, Universidad de Antioquia, Medellín, Colombia
Gabriel Bedoya
Rambam Health Care Campus, Haifa 31096, Israel.,
Haim Ben-Ami
Department of Medical Genetics and Szentagothai Research Center, University of Pécs, Pécs H-7624, Hungary.,
Judit Bene & Béla Melegh
Al Akhawayn University in Ifrane (AUI), School of Science and Engineering, Ifrane 53000, Morocco.,
Fouad Berrada
Forensic Genetics Laboratory, Institute of Legal Medicine, Università Cattolica del Sacro Cuore, Rome 00168, Italy.,
Francesca Brisighelli
Department of Zoology, University of Oxford, Oxford OX1 3PS, UK.,
George B. J. Busby & Cristian Capelli
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.,
George B. J. Busby
Laboratorio di Genetica Molecolare, IRCCS Associazione Oasi Maria SS, Troina 94018, Italy.,
Francesco Cali
Belgorod State University, Belgorod 308015, Russia.,
Mikhail Churnosov
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario M5G 1L5, Canada.,
David E. C. Cole
Servicio de Huellas Digitales Genéticas, School of Pharmacy and Biochemistry, Universidad de Buenos Aires, 1113 CABA, Argentina.,
Daniel Corach
Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk 630090, Russia.,
Larissa Damba, Marina Gubina, Ludmila Osipova, Olga Posukh & Mikhail Voevoda
Institute of Linguistics, University of Bern, Bern CH-3012, Switzerland.,
George van Driem
Laboratory of Human Molecular Genetics, Institute of Molecular and Cellular Biology, Russian Academy of Science, Siberian Branch, Novosibirsk 630090, Russia.,
Stanislav Dryomov, Elena B. Starikovskaya & Rem Sukernik
Anthropologie Moléculaire et Imagerie de Synthèse, CNRS UMR 5288, Université Paul Sabatier Toulouse III, Toulouse 31000, France.,
Jean-Michel Dugoujon
North-Eastern Federal University and Yakut Research Center of Complex Medical Problems, Yakutsk 677013, Russia.,
Sardana A. Fedorova
Department of Human Genetics, University of Chicago, Chicago, 60637, Illinois, USA
Irene Gallego Romero & Aashish R. Jha
ARL Division of Biotechnology, University of Arizona, Tucson, 85721, Arizona, USA
Michael Hammer
Department of Ecology and Evolution, Stony Brook University, Stony Brook, New York 11794, USA.,
Brenna M. Henn
Department of Clinical Science, University of Bergen, Bergen 5021, Norway.,
Tor Hervig
NextBio, Illumina, Santa Clara, California 95050, USA.,
Ugur Hodoglugil
Department of Medical Genetics, National Human Genome Center, Medical University Sofia, Sofia 1431, Bulgaria.,
Sena Karachanak-Yankova, Desislava Nesheva & Draga Toncheva
Institute of Biochemistry and Genetics, Ufa Research Centre, Russian Academy of Sciences, Ufa 450054, Russia.,
Rita Khusainova, Elza Khusnutdinova & Sergey Litvinov
Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa 450074, Russia.,
Rita Khusainova, Elza Khusnutdinova & Sergey Litvinov
College of Medicine, University of Arizona, Tucson, 85724, Arizona, USA
Rick Kittles
Division of Biological Anthropology, University of Cambridge, Cambridge CB2 1QH, UK.,
Toomas Kivisild
Department of Human and Medical Genetics, Vilnius University, Vilnius LT-08661, Lithuania.,
Vaidutis Kučinskas & Ingrida Uktveryte
Estonian Biocentre, Evolutionary Biology group, Tartu, 51010, Estonia.,
Alena Kushniarevich, Sergey Litvinov, Hovhannes Sahakyan, Richard Villems & Mait Metspalu
Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67404, France.,
Leila Laredj
Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.,
Theologos Loukidis, Mark G. Thomas & Andres Ruiz-Linares
Gladstone Institutes, San Francisco, 94158, California, USA
Robert W. Mahley
Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.,
Ene Metspalu, Jüri Parik & Richard Villems
Centro de Investigaciones Biomédicas de Guatemala, Ciudad de Guatemala, Guatemala.,
Julio Molina
Research Department, 23andMe, Mountain View, California 94043, USA.,
Joanna Mountain
Cultural Anthropology Program, University of Oulu, Oulu 90014, Finland.,
Klemetti Näkkäläjärvi
Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam 65001, Tanzania.,
Thomas Nyambo
Research Institute of Health, North-Eastern Federal University, Yakutsk 677000, Russia.,
Fedor Platonov
Dipartimento di Fisica e Chimica, Università di Palermo, Palermo 90128, Italy.,
Valentino Romano
Instituto de Alta Investigación, Universidad de Tarapacá, Arica 1000000, Chile.,
Francisco Rothhammer
Programa de Genética Humana ICBM Facultad de Medicina Universidad de Chile, Santiago 8320000, Chile.,
Francisco Rothhammer
Centro de Investigaciones del Hombre en el Desierto, Arica 1000000, Chile.,
Francisco Rothhammer
Centre for Population Health Sciences, The University of Edinburgh Medical School, Edinburgh EH8 9AG, UK.,
Igor Rudan
Institute of Immunology, Academy of Science, Tashkent 70000, Uzbekistan.,
Ruslan Ruizbakiev
Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences of Armenia, Yerevan 0014, Armenia.,
Hovhannes Sahakyan & Levon Yepiskoposyan
Department of Forensic Medicine, Hjelt Institute, University of Helsinki, Helsinki 00014, Finland.,
Antti Sajantila
Department of Molecular and Medical Genetics, Institute of Applied Genetics, University of North Texas Health Science Center, Fort Worth, 76107, Texas, USA
Antti Sajantila
Departamento de Anatomía Patolóxica e Ciencias Forenses, Unidade de Xenética, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, Galcia 15872, Spain.,
Antonio Salas
Research Fellow, Henry Stewart Group, Russell House, London WC1A 2HN, UK.,
Ayele Tarekegn
Institute of Bioorganic Chemistry Academy of Sciences Republic of Uzbekistan, Tashkent 100125, Uzbekistan.,
Shahlo Turdikulova
Department of Genetics and Cytology, V. N. Karazin Kharkiv National University, Kharkiv 61077, Ukraine.,
Olga Utevska
Instituto Boliviano de Biología de la Altura, Universidad Mayor de San Andrés, 591 2 La Paz, Bolivia.,
René Vasquez & Mercedes Villena
UniversidadAutonoma Tomás Frías, Potosí, Bolivia
René Vasquez & Mercedes Villena
Institute of Internal Medicine, Siberian Branch of Russian Academy of Medical Sciences, Novosibirsk 630089, Russia.,
Mikhail Voevoda
Novosibirsk State University, Novosibirsk 630090, Russia.,
Mikhail Voevoda
Basic Research Laboratory, NCI, NIH, Frederick National Laboratory, Leidos Biomedical, Frederick, Maryland 21702, USA.,
Cheryl A. Winkler
Lebanese American University, School of Medicine, Beirut 13-5053, Lebanon.,
Pierre Zalloua
Harvard School of Public Health, Boston, 02115, Massachusetts, USA
Pierre Zalloua
Department of Medical Biology, University of Split, School of Medicine, Split 21000, Croatia.,
Tatijana Zemunik
Department of Biology and Genetics, University of Pennsylvania, Philadelphia, 19104, Pennsylvania, USA
Sarah A. Tishkoff
CSIR-Centre for Cellular and Molecular Biology, Hyderabad 500 007, India.,
Lalji Singh & Kumarasamy Thangaraj
Estonian Academy of Sciences, Tallinn 10130, Estonia.,
Richard Villems
Institut de Biologia Evolutiva (CSIC-UPF), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona 08003, Spain.,
David Comas
Howard Hughes Medical Institute, University of Washington, Seattle, 98195, Washington, USA
Evan E. Eichler
Howard Hughes Medical Institute, Harvard Medical School, Boston, 02115, Massachusetts, USA
David Reich
Senckenberg Centre for Human Evolution and Palaeoenvironment, University of Tübingen, 72070 Tübingen, Germany.,
Johannes Krause
Max Planck Institut für Geschichte und Naturwissenschaften, Jena 07745, Germany.,
Johannes Krause
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Contributions
B.B., E.E.E., J.Bu., M.S., S.P., J.Ke., D.R. and J.Kr. supervised the study. I.L., N.P., A.M., G.R., S.M., K.K., P.H.S., J.G.S., S.C., M.L., Q.F., H.L., C.dF., K.P., W.H., M.Met., M.Mey. and D.R. analysed genetic data. F.H., E.F., D.D., M.F., J.-M.G., J.W., A.C. and J.Kr. obtained human remains. A.M., C.E., R.Bo., K.I.B., S.S., C.P., N.R. and J.Kr. processed ancient DNA. I.L., N.P., S.N., N.R., G.A., H.A.B., G.Ba., E.B., O.B., R.Ba., G.Be., H.B.-A., J.Be., F.Be., C.M.B., F.Br., G.B.J.B., F.C., M.C., D.E.C.C., D.Cor., L.D., G.vD., S.D., J.-M.D., S.A.F., I.G.R., M.G., M.H., B.M.H., T.H., U.H., A.R.J., S.K.-Y., R.Kh., E.K., R.Ki., T.K., W.K., V.K., A.K., L.L., S.L., T.L., R.W.M., B.M., E.M., J.Mol., J.Mou., K.N., D.N., T.N., L.O., J.P., F.P., O. P., V.R., F.R., I.R., R.R., H.S., A.Saj., A.Sal., E.B.S., A.Tar., D.T., S.T., I.U., O.U., R.Va., M.Vi., M.Vo., C.A.W., L.Y., P.Z., T.Z., C.C., M.G.T., A.R.-L., S.A.T., L.S., K.T., R.Vi., D.Com., R.S., M.Met., S.P. and D.R. assembled the genotyping dataset. I.L., N.P., D.R. and J.Kr. wrote the manuscript with help from all co-authors.
Corresponding authors
Correspondence toDavid Reich orJohannes Krause.
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Competing interests
U.H. is an employee of Illumina, T.L. is an employee of Amgen, and J.M. is an employee of 23andMe.
Extended data figures and tables
Extended Data Figure 1 Photographs of analysed ancient samples.
a, Loschbour skull.b, Stuttgart skull, missing the lower right M2 we sampled.c, Excavation at Kanaljorden in Motala, Sweden.d, Motala 1in situ.
Extended Data Figure 2 Pairwise sequential Markovian coalescent (PSMC) analysis.
a, Inference of population size as a function of time, showing a very small recent population size over the most recent period in the ancestry of Loschbour (at least the last 5–10 thousand years).b, Inferred time since the most recent common ancestor from the PSMC for chromosomes 20, 21, 22 (top to bottom); Stuttgart is plotted on top and Loschbour at bottom.
Extended Data Figure 3 ADMIXTURE analysis (K = 2 toK = 20).
Ancient samples (Loschbour, Stuttgart, Motala_merge, Motala12, MA1, and LaBraña) are on the left.
Extended Data Figure 4 ANE ancestry is present in both Europe and the Near East but WHG ancestry is restricted to Europe, which cannot be due to a single admixture event.
On thex axis we present the statisticf4(Test, Stuttgart; MA1, Chimp), which measures where MA1 shares more alleles with a test population than with Stuttgart. It is positive for most European and Near Eastern populations, consistent with ANE (MA1-related) gene flow into both regions. On they axis we present the statisticf4(Test, Stuttgart; Loschbour, Chimp), which measures whether Loschbour shares more alleles with a test sample than with Stuttgart. Only European populations show positive values of this statistic, providing evidence of WHG (Loschbour-related) admixture only in Europeans.
Extended Data Figure 5 MA1 is the best surrogate for ANE for which we have data.
Europeans share more alleles with MA1 than with Karitiana, as we see from the fact that in a plot off4(Test, BedouinB; MA1, Chimp) andf4(Test, BedouinB; Karitiana, Chimp), the European cline deviates in the direction of MA1, rather than Karitiana (the slope is > 1 and European populations are above the line indicating inequality of these two statistics).
Extended Data Figure 6 The differential relatedness of west Eurasians to Stuttgart (EEF), Loschbour (WHG), and MA1 (ANE) cannot be explained by two-way mixture.
We plot on a West Eurasian map the statisticf4(Test, Chimp;A1, A2), whereA1 andA2 are a pair of the three ancient samples representing the three ancestral populations of Europe.a, In both Europe and the Near East/Caucasus, populations from the south have more relatedness to Stuttgart than those from the north where ANE influence is also important.b, Northern European populations share more alleles with Loschbour than with Stuttgart, as they have additional WHG ancestry beyond what was already present in EEF.c, We observe a striking contrast between Europe west of the Caucasus and the Near East in degree of relatedness to WHG. In Europe, there is a much higher degree of allele sharing with Loschbour than with MA1, which we ascribe to the 60–80% WHG/(WHG + ANE) ratio in most Europeans that we report inSupplementary Information section 14. In contrast, the Near East has no appreciable WHG ancestry but some ANE ancestry, especially in the northern Caucasus. (Jewish populations are marked with a square in this figure to assist in interpretation as their ancestry is often anomalous for their geographic regions.)
Extended Data Figure 7 Evidence for Siberian gene flow into far north-eastern Europe.
Some north-eastern European populations (Chuvash, Finnish, Russian, Mordovian, Saami) share more alleles with Han Chinese than with other Europeans who are arrayed in a cline from Stuttgart to Lithuanians/Estonians in a plot off4(Test, BedouinB; Han, Mbuti) againstf4(Test, BedouinB; MA1, Mbuti).
Supplementary information
Supplementary Information
This file contains Supplementary Information Parts 1-19 – see Supplementary Contents for details.This file contains Supplementary Information Parts 1-19 – see Supplementary Contents for details. (PDF 9752 kb)
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Lazaridis, I., Patterson, N., Mittnik, A.et al. Ancient human genomes suggest three ancestral populations for present-day Europeans.Nature513, 409–413 (2014). https://doi.org/10.1038/nature13673
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