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

Lazaridis, Iosif; Patterson, Nick; Mittnik, Alissa; Renaud, Gabriel; Mallick, Swapan; Kirsanow, Karola; Sudmant, Peter H.; Schraiber, Joshua G.; Castellano, Sergi; Lipson, Mark; Berger, Bonnie; Economou, Christos; Bollongino, Ruth; Fu, Qiaomei; Bos, Kirsten I.; Nordenfelt, Susanne; Li, Heng; Filippo, Cesare de; Prüfer, Kay; Sawyer, Susanna; Posth, Cosimo; Haak, Wolfgang; Hallgren, Fredrik; Fornander, Elin; Rohland, Nadin; Delsate, Dominique; Francken, Michael; Guinet, Jean Michel; Wahl, Joachim; Ayodo, George; Babiker, Hamza A.; Bailliet, Graciela; Balanovska, Elena; Balanovsky, Oleg; Barrantes, Ramiro; Bedoya, Gabriel; Ben-Ami, Haim; Bene, Judit; Berrada, Fouad; Bravi, Cláudio M.; Brisighelli, Francesca; Busby, George B.J.; Calı̀, Francesco; Churnosov, Mikhail; Cole, David E. C.; Corach, Daniel; Damba, Larissa; Driem, George van; Dryomov, Stanislav; Dugoujon, Jean Michel; Fedorova, Sardana A.; Romero, Irene Gallego; Gubina, Marina; Hammer, Michael F.; Henn, Brenna M.; Hervig, Tor; Hodoğlugil, Uğur; Jha, Aashish R.; Karachanak-Yankova, Sena; Хусаинова, Р. И.; Хуснутдинова, Э. К.; Kittles, Rick A.; Kivisild, Toomas; Klitz, William; Kučinskas, Vaidutis; Kushniarevich, Alena; Laredj, Leila; Litvinov, Sergey; Loukidis, Theologos; Mahley, Robert W.; Melegh, Béla; Metspalu, Ene; Molina, Julio; Mountain, Joanna L.; Näkkäläjärvi, Klemetti; Nesheva, Desislava; Nyambo, Thomas; Osipova, L. P.; Parik, Jüri; Платонов, Федор Алексеевич; Posukh, Olga L.; Romano, Valentino; Rothhammer, Francisco; Rudan, Igor; Ruizbakiev, Ruslan; Sahakyan, Hovhannes; Sajantila, Antti; Salas, Antonio; Starikovskaya, Elena B.; Tarekegn, Ayele; Toncheva, Draga; Turdikulova, Shahlo; Uktverytė, Ingrida; Utevska, Olga; Vásquez, René; Villena, Mercedes; Воевода, М. И.; Winkler, Cheryl A.; Yepiskoposyan, Levon; Zalloua, Pierre; Zemunik, Tatijana; Cooper, Alan; Capelli, Cristian; Thomas, Mark G.; Ruiz-Linares, Andrés; Tishkoff, Sarah A.; Singh, Lalji; Thangaraj, Kumarasamy; Villems, Richard; Comas, David; Sukernik, Rem I.; Metspalu, Mait; Meyer, Matthias; Eichler, Evan E.; Bürger, Joachim; Slatkin, Montgomery; Pääbo, Svante; Kelso, Janet; Reich, David; Krause, Johannes

doi:10.1038/nature13673

Cited by 1,225 publications

(1,139 citation statements)

References 71 publications

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“…The genetic data from the Birka warrior was merged with three different population reference data‐sets consisting of genotype SNP data from: the Human Origins dataset (Patterson et al, 2012; Lazaridis et al, 2014), the Swedish reference (Salmela et al, 2011), and the Population Reference Sample–POPRES (Nelson et al, 2008) merged with 60 Yoruban individuals from the pilot phase of the 1000 Genomes Project (The 1000 Genome Project Consortium, 2010). The analyses were restricted to nucleotide positions with minimum mapping and base quality of 30.…”

Section: Methodsmentioning

confidence: 99%

“…Maps visualizing the results of f 3 ‐statistic in which the individual from grave Bj 581 was compared to (a) Human Origins population reference panel (Lazaridis et al, 2014; Patterson et al, 2012) and (b) Population Reference Sample (POPRES) (Nelson et al, 2008). (c) The Birka warrior plotted against PC1 values for 21 Swedish subpopulations representing all counties and the total of 1525 individuals (Salmela et al, 2011).…”

Section: Methodsmentioning

confidence: 99%

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A female Viking warrior confirmed by genomics

Hedenstierna-Jonson

Kjellström

Zachrisson

et al. 2017

American J Phys Anthropol

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ObjectivesThe objective of this study has been to confirm the sex and the affinity of an individual buried in a well‐furnished warrior grave (Bj 581) in the Viking Age town of Birka, Sweden. Previously, based on the material and historical records, the male sex has been associated with the gender of the warrior and such was the case with Bj 581. An earlier osteological classification of the individual as female was considered controversial in a historical and archaeological context. A genomic confirmation of the biological sex of the individual was considered necessary to solve the issue.Materials and methodsGenome‐wide sequence data was generated in order to confirm the biological sex, to support skeletal integrity, and to investigate the genetic relationship of the individual to ancient individuals as well as modern‐day groups. Additionally, a strontium isotope analysis was conducted to highlight the mobility of the individual.ResultsThe genomic results revealed the lack of a Y‐chromosome and thus a female biological sex, and the mtDNA analyses support a single‐individual origin of sampled elements. The genetic affinity is close to present‐day North Europeans, and within Sweden to the southern and south‐central region. Nevertheless, the Sr values are not conclusive as to whether she was of local or nonlocal origin.DiscussionThe identification of a female Viking warrior provides a unique insight into the Viking society, social constructions, and exceptions to the norm in the Viking time‐period. The results call for caution against generalizations regarding social orders in past societies.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

A female Viking warrior confirmed by genomics

Hedenstierna-Jonson

Kjellström

Zachrisson

et al. 2017

American J Phys Anthropol

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“…Although the dating of this expansion event is not precise, it could be linked to the neolithization process [17], and it could have occurred via trade and/or in association with spatial and demographic expansion of Neolithic humans [42,43]. The dogs from the new expansion wave could have admixed with earlier resident populations-in parallel with the admixture of expanding Neolithic humans with resident Mesolithic populations [42,43].…”

Section: (C) Geographical Patterns Of Free-breeding Dogs Expansion Inmentioning

confidence: 99%

On the origin of mongrels: evolutionary history of free-breeding dogs in Eurasia

et al. 2015

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Although a large part of the global domestic dog population is free-ranging and free-breeding, knowledge of genetic diversity in these free-breeding dogs (FBDs) and their ancestry relations to pure-breed dogs is limited, and the indigenous status of FBDs in Asia is still uncertain. We analyse genome-wide SNP variability of FBDs across Eurasia, and show that they display weak genetic structure and are genetically distinct from pure-breed dogs rather than constituting an admixture of breeds. Our results suggest that modern European breeds originated locally from European FBDs. East Asian and Arctic breeds show closest affinity to East Asian FBDs, and they both represent the earliest branching lineages in the phylogeny of extant Eurasian dogs. Our biogeographic reconstruction of ancestral distributions indicates a gradual westward expansion of East Asian indigenous dogs to the Middle East and Europe through Central and West Asia, providing evidence for a major expansion that shaped the patterns of genetic differentiation in modern dogs. This expansion was probably secondary and could have led to the replacement of earlier resident populations in Western Eurasia. This could explain why earlier studies based on modern DNA suggest East Asia as the region of dog origin, while ancient DNA and archaeological data point to Western Eurasia.

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“…Current research in ancient DNA studies show that the initial expansion of the Neolithic into Europe was a demic diffusion of peoples genetically similar to present‐day Near Easterners and distinct from the indigenous hunter‐gatherer populations in the area (Lazaridis et al, 2014). The Neolithic first appears in Europe on the Island of Cyprus about 10,000 years ago (Pinhasi et al, 2005).…”

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confidence: 99%

The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic

Heath

Axton

McCullough

et al. 2016

American J Phys Anthropol

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ObjectivesThe C282Y allele is the major cause of hemochromatosis as a result of excessive iron absorption. The mutation arose in continental Europe no earlier than 6,000 years ago, coinciding with the arrival of the Neolithic agricultural revolution. Here we hypothesize that this new Neolithic diet, which originated in the sunny warm and dry climates of the Middle East, was carried by migrating farmers into the chilly and damp environments of Europe where iron is a critical micronutrient for effective thermoregulation. We argue that the C282Y allele was an adaptation to this novel environment.Materials and MethodsTo address our hypothesis, we compiled C282Y allele frequencies, known Neolithic sites in Europe and climatic data on temperature and rainfall for statistical analysis.ResultsOur findings indicate that the geographic cline for C282Y frequency in Europe increases as average temperatures decrease below 16°C, a critical threshold for thermoregulation, with rainy days intensifying the trend.DiscussionThe results indicate that the deleterious C282Y allele, responsible for most cases of hemochromatosis, may have evolved as a selective advantage to culture and climate during the European Neolithic. Am J Phys Anthropol 160:86–101, 2016. © 2016 The Authors American Journal of Physical Anthropology Published by Wiley Periodicals, Inc.

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

Cited by 1,225 publications

References 71 publications

A female Viking warrior confirmed by genomics

A female Viking warrior confirmed by genomics

On the origin of mongrels: evolutionary history of free-breeding dogs in Eurasia

The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic

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