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Ancient human genomes suggest three ancestral populations for present-day Europeans
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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 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.
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“PCA on present-day West Eurasian populations (Methods) (Extended Data Fig. 1) on which we projected the ancient individuals (Fig. 1b) replicates previous findings of a Europe-Near East contrast along the horizontal Principal Component 1 (PC1) and parallel clines (PC2) in both Europe and the Near East (Extended Data Fig. 1)7,8,13.”
From Genomic insights into the origin of farming in the ancient Near East (2016) · cites this paper as [13]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“Eastern Eurasians can be modelled as arrayed along a cline with different proportions of ANE ancestry (Supplementary Information, section 11; Extended Data Fig. 8), ranging from ~40% ANE in Native Americans matching previous findings13,15, to no less than ~5-10% ANE in diverse East Asian groups including Han Chinese (Extended Data Fig. 5; Extended Data Fig. 7f).”
From Genomic insights into the origin of farming in the ancient Near East (2016) · cites this paper as [13]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“Scandinavian hunter-gatherers7,8,13 (SHG) are a mix of EHG and WHG;”
From Genomic insights into the origin of farming in the ancient Near East (2016) · cites this paper as [13]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“Studies of west Eurasia have revealed that the genetic diversity of present-day Europeans is primarily formed by three major ancestry components 210 , consisting first of early huntergatherers 194,265 who later admixed with farmers leaving Anatolia approximately 9,000 years ago, and who brought with them agricultural innovations such as domesticated crops and livestock and introduced the Neolithic”
From Ancient DNA analysis (2021) · cites this paper as [210]
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“We then further merged with 2,583 present-day people genotyped on the Affymetrix Human Origins array13,16 (238 new) (Supplementary Data Table 2; Supplementary Information, section 2).”
From Genomic insights into the origin of farming in the ancient Near East (2016) · cites this paper as [13]
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“We combined our data with previously published ancient data7,8,9,10,8,10-15 to form a dataset of 281 ancient individuals.”
From Genomic insights into the origin of farming in the ancient Near East (2016) · cites this paper as [13]
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“We genotyped 238 present-day individuals from 17 diverse West Eurasian populations on the Affymetrix Human Origins array16, and applied quality control analyses as previously described13 (Supplementary Data Table 2).”
From Genomic insights into the origin of farming in the ancient Near East (2016) · cites this paper as [13]
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“We merged the newly generated data with data from 2,345 individuals previously genotyped on the same array13.”
From Genomic insights into the origin of farming in the ancient Near East (2016) · cites this paper as [13]
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“Previously, the West Eurasian population known to be the best proxy for this ancestry was present-day Sardinians32, who resemble Neolithic Europeans genetically13,33.”
From Genomic insights into the origin of farming in the ancient Near East (2016) · cites this paper as [13]
In the citing paper
“Analysis showed that at least three different ancient populations contributed to the genetics of present-day Europeans: (1) West European hunter-gatherers, (2) ancient north Eurasians related to Upper Paleolithic Siberians, and (3) early European farmers, who were mainly of Near Eastern origin [29].”
From Ancient DNA and the rewriting of human history: be sparing with Occam’s razor (2016) · cites this paper as [29]
In the citing paper
“A 7,000-y-old Early European farmer was found to be homozygous for the skinlightening SLC24A5 allele (25), suggesting that light skin was relatively prevalent by 7,000 y ago and could have originated much earlier.”
From Evidence for recent, population-specific evolution of the human mutation rate (2015) · cites this paper as [25]
In the citing paper
“This suggests an unusually restricted ancestral population size for KO1 (we note that low heterozygosity was also found within a 8,000 year old hunter-gatherer from Luxembourg5), supporting the inference that he represents an exogenous individual in a farming settlement.”
From Genome flux and stasis in a five millennium transect of European prehistory (2014) · cites this paper as [5]
In the citing paper
“Both SLC24A5 and SLC45A2 exhibited an ancestral homozygous state in Mesolithic specimens of Central5 and Western Europe7, while SLC24A5 had the derived state in a Central European Neolithic individual5.”
From Genome flux and stasis in a five millennium transect of European prehistory (2014) · cites this paper as [5]
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Self-citation40,000-Year-Old Individual from Asia Provides Insight into Early Population Structure in Eurasia
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Self-citationThe deep population history of northern East Asia from the Late Pleistocene to the Holocene
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Self-citationThe Genetic Variability of APOE in Different Human Populations and Its Implications for Longevity
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Self-citationIntestinal microbiome and fitness in kidney disease
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Dairying, diseases and the evolution of lactase persistence in Europe
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Initial Upper Palaeolithic humans in Europe had recent Neanderthal ancestry
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Self-citationPaleolithic to Bronze Age Siberians Reveal Connections with First Americans and across Eurasia
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Self-citationA Fast and Efficient Single-stranded Genomic Library Preparation Method Optimized for Ancient DNA
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Self-citationAncient Fennoscandian genomes reveal origin and spread of Siberian ancestry in Europe
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Self-citationPopulation genomics of post-glacial western Eurasia
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Self-citation
Metadata
- Authors
- Lazaridis, I., Patterson, N., Mittnik, A., Renaud, G., Mallick, S., Kirsanow, K., Sudmant, P. H., Schraiber, J. G., Castellano, S., Lipson, M., Berger, B., Economou, C., Bollongino, R., Fu, Q., Bos, K. I., Nordenfelt, S., Li, H., de Filippo, C., Prüfer, K., Sawyer, S., Posth, C., Haak, W., Hallgren, F., Fornander, E., Rohland, N., Delsate, D., Francken, M., Guinet, J.-M., Wahl, J., Ayodo, G., Babiker, H. A., Bailliet, G., Balanovska, E., Balanovsky, O., Barrantes, R., Bedoya, G., Ben-Ami, H., Bene, J., Berrada, F., Bravi, C. M., Brisighelli, F., Busby, G. B. J., Cali, F., Churnosov, M., Cole, D. E. C., Corach, D., Damba, L., van Driem, G., Dryomov, S., Dugoujon, J.-M., Fedorova, S. A., Gallego Romero, I., Gubina, M., Hammer, M., Henn, B. M., Hervig, T., Hodoglugil, U., Jha, A. R., Karachanak-Yankova, S., Khusainova, R., Khusnutdinova, E., Kittles, R., Kivisild, T., Klitz, W., Kučinskas, V., Kushniarevich, A., Laredj, L., Litvinov, S., Loukidis, T., Mahley, R. W., Melegh, B., Metspalu, E., Molina, J., Mountain, J., Näkkäläjärvi, K., Nesheva, D., Nyambo, T., Osipova, L., Parik, J., Platonov, F., Posukh, O., Romano, V., Rothhammer, F., Rudan, I., Ruizbakiev, R., Sahakyan, H., Sajantila, A., Salas, A., Starikovskaya, E. B., Tarekegn, A., Toncheva, D., Turdikulova, S., Uktveryte, I., Utevska, O., Vasquez, R., Villena, M., Voevoda, M., Winkler, C. A., Yepiskoposyan, L., Zalloua, P., Zemunik, T., Cooper, A., Capelli, C., Thomas, M. G., Ruiz-Linares, A., Tishkoff, S. A., Singh, L., Thangaraj, K., Villems, R., Comas, D., Sukernik, R., Metspalu, M., Meyer, M., Eichler, E. E., Burger, J., Slatkin, M., Pääbo, S., Kelso, J., Reich, D., & Krause, J.
- Affiliations
- Broad Institute (US)
- University of Tübingen (DE)
- Max Planck Institute for Evolutionary Anthropology (DE)
- Johannes Gutenberg University Mainz (DE)
- University of Washington (US)
- Massachusetts Institute of Technology (US)
- Stockholm University (SE)
- Harvard University (US)
- The University of Adelaide (AU)
- Musée national d'histoire naturelle Luxembourg (LU)
- Senckenberg Centre for Human Evolution and Palaeoenvironment (DE)
- Sultan Qaboos University (OM)
- Consejo Nacional de Investigaciones Científicas y Técnicas (AR)
- Research Centre for Medical Genetics (RU)
- Universidad de Costa Rica (CR)
- Universidad de Antioquia (CO)
- University of Pecs (HU)
- Al Akhawayn University (MA)
- Università Cattolica del Sacro Cuore (IT)
- Centre for Human Genetics (GB)
- Belgorod National Research University (RU)
- University of Toronto (CA)
- Universidad de Buenos Aires (AR)
- Russian Academy of Sciences (RU)
- Centre National de la Recherche Scientifique (FR)
- University of Arizona (US)
- Stony Brook University (US)
- University of Bergen (NO)
- University of Chicago (US)
- Medical University of Sofia (BG)
- University of Cambridge (GB)
- University of California, Berkeley (US)
- Vilnius University (LT)
- Estonian Biocentre (EE)
- Institut de génétique et de biologie moléculaire et cellulaire (FR)
- University College London (GB)
- Gladstone Institutes (US)
- University of Tartu (EE)
- 23andMe (United States) (US)
- University of Oulu (FI)
- Muhimbili University of Health and Allied Sciences (TZ)
- University of Palermo (IT)
- University of Tarapacá (CL)
- University of Edinburgh (GB)
- Academy of Sciences Republic of Uzbekistan (UZ)
- Institute of Molecular Biology (AM)
- University of Helsinki (FI)
- Universidade de Santiago de Compostela (ES)
- V. N. Karazin Kharkiv National University (UA)
- Universidad Mayor de San Andrés (BO)
- National Institutes of Health (US)
- University of Split (HR)
- University of Oxford (GB)
- University of Pennsylvania (US)
- Centre for Cellular and Molecular Biology (IN)
- Estonian Academy of Sciences (EE)
- Universitat Pompeu Fabra (ES)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Reich, David
- Krause, Johannes
- ORCID
- Lazaridis, Iosif
- Patterson, Nick
- Mittnik, Alissa
- Renaud, Gabriel
- Mallick, Swapan
- Sudmant, Peter H.
- Schraiber, Joshua G.
- Castellano, Sergi
- Lipson, Mark
- Berger, Bonnie
- Fu, Qiaomei
- Bos, Kirsten I.
- Li, Heng
- Prüfer, Kay
- Sawyer, Susanna
- Posth, Cosimo
- Haak, Wolfgang
- Hallgren, Fredrik
- Fornander, Elin
- Rohland, Nadin
- Delsate, Dominique
- Francken, Michael
- Wahl, Joachim
- Ayodo, George
- Babiker, Hamza A.
- Bailliet, Graciela
- Balanovska, Elena
- Bedoya, Gabriel
- Bene, Judit
- Brisighelli, Francesca
- Busby, George B. J.
- Churnosov, Mikhail
- Corach, Daniel
- Damba, Larissa
- Dugoujon, Jean-Michel
- Gubina, Marina
- Hammer, Michael
- Henn, Brenna M.
- Hervig, Tor
- Jha, Aashish R.
- Karachanak-Yankova, Sena
- Khusainova, Rita
- Kittles, Rick
- Kivisild, Toomas
- Kučinskas, Vaidutis
- Kushniarevich, Alena
- Litvinov, Sergey
- Mahley, Robert W.
- Melegh, Béla
- Metspalu, Ene
- Mountain, Joanna
- Näkkäläjärvi, Klemetti
- Nesheva, Desislava
- Nyambo, Thomas
- Osipova, Ludmila
- Posukh, Olga
- Romano, Valentino
- Rothhammer, Francisco
- Rudan, Igor
- Sahakyan, Hovhannes
- Sajantila, Antti
- Salas, Antonio
- Starikovskaya, Elena B.
- Toncheva, Draga
- Turdikulova, Shahlo
- Utevska, Olga
- Voevoda, Mikhail
- Winkler, Cheryl A.
- Yepiskoposyan, Levon
- Zalloua, Pierre
- Zemunik, Tatijana
- Cooper, Alan
- Capelli, Cristian
- Thomas, Mark G.
- Tishkoff, Sarah A.
- Singh, Lalji
- Villems, Richard
- Comas, David
- Sukernik, Rem
- Metspalu, Mait
- Meyer, Matthias
- Eichler, Evan E.
- Slatkin, Montgomery
- Pääbo, Svante
- Kelso, Janet
- Reich, David
- Krause, Johannes
- Venue
- Nature
- Published
- 2014-09
- Volume
- 513
- Issue
- 7518
- Pages
- 409-413
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC4170574
- OpenAlex
- W2050967443
- Cited by
- 1,357
- References
- 126
- Citations by year
- 2026: 67 · 2025: 96 · 2024: 108 · 2023: 114 · 2022: 112 · 2021: 148 · 2020: 109 · 2019: 120 · 2018: 127 · 2017: 126 · 2016: 108 · 2015: 96 · 2014: 22
- FWCI
- 76.14
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- RECERCAT (Consorci de Serveis Universitaris de Catalunya) (acceptedVersion, other-oa)
- arXiv (Cornell University) (submittedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- Digital Commons - University of South Florida (University of South Florida) (submittedVersion)
- Open Access Repository (Belgorod State National Research University) (submittedVersion)
- El Servicio de Difusión de la Creación Intelectual (National University of La Plata) (submittedVersion, cc-by-nc-sa)
- RePEc: Research Papers in Economics (submittedVersion)
- Americanae (AECID Library) (submittedVersion, cc-by-nc-sa)
- BORIS (University Library Bern) (submittedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc-sa)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Max Planck Digital Library (submittedVersion)
- Nova Science Publishers (Nova Science Publishers, Inc.) (submittedVersion, other-oa)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion)
- CONICET Digital (CONICET) (submittedVersion, cc-by-nc-sa)
- RUNE (Research UNE) (submittedVersion)
- arXiv (Cornell University)
- PMC
- The University of Adelaide (cc-by)
- Open Access CRIS of the University of Bern
- Funders
- National Science Foundation (0827436, 1053575, 1032255)
- Howard Hughes Medical Institute
- U.S. Department of Health and Human Services
- Children's Hospital of Philadelphia
- Wellcome Trust (100719/Z/12/Z)
- European Commission
- Deutsche Forschungsgemeinschaft (KR 4015/1-1)
- Eesti Teadusfondi
- Russian Foundation for Basic Research (13-06-00670)
- Hungarian Scientific Research Fund (73430, 103983)
- Max-Planck-Gesellschaft
- Tartu Ülikool
- National Institutes of Health (OCI-1053575, HHSN26120080001E)
- U.S. Public Health Service (HHSN 26120080001E)
- Natural Sciences and Engineering Research Council of Canada
- Russian Academy of Sciences
- National Human Genome Research Institute (HG002385, P01HG004120, R01HG006399, HG004120, R01HG002385)
- National Cancer Institute (HHSN26120080001E)
- National Institute of General Medical Sciences (GM-40282, R01GM040282, GM100233, R01GM100233)
- National Institute of Environmental Health Sciences (DP1ES022577)
- National Center for Chronic Disease Prevention and Health Promotion (8 DP1 ES022577-04)
- European Social Fund (VP1-3.1-ŠMM-07-K-01-013, 62,63)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Keywords
- ancient human genomes, European ancestry, hunter-gatherers, genetic differentiation, transition to agriculture
- MeSH terms
- Workforce, Agriculture, Asia, Europe, Humans, Population Dynamics, Genome, Human, Principal Component Analysis, White People, History, Ancient
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