Ancient DNA reveals prehistoric gene-flow from Siberia in the complex human population history of north east Europe

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dc.contributor.authorDersarkissian, C.
dc.contributor.authorBalanovsky, O.
dc.contributor.authorBrandt, G.
dc.contributor.authorKhartanovich, V.
dc.contributor.authorBuzhilova, A.
dc.contributor.authorKoshel, S.
dc.contributor.authorZaporozhchenko, V.
dc.contributor.authorGronenborn, D.
dc.contributor.authorMoiseyev, V.
dc.contributor.authorKolpakov, E.
dc.contributor.authorShumkin, V.
dc.contributor.authorAlt, K.
dc.contributor.authorBalanovska, E.
dc.contributor.authorCooper, A.
dc.contributor.authorHaak, W.
dc.contributor.editorWilliams, S.M.
dc.date.issued2013
dc.description.abstractNorth East Europe harbors a high diversity of cultures and languages, suggesting a complex genetic history. Archaeological, anthropological, and genetic research has revealed a series of influences from Western and Eastern Eurasia in the past. While genetic data from modern-day populations is commonly used to make inferences about their origins and past migrations, ancient DNA provides a powerful test of such hypotheses by giving a snapshot of the past genetic diversity. In order to better understand the dynamics that have shaped the gene pool of North East Europeans, we generated and analyzed 34 mitochondrial genotypes from the skeletal remains of three archaeological sites in northwest Russia. These sites were dated to the Mesolithic and the Early Metal Age (7,500 and 3,500 uncalibrated years Before Present). We applied a suite of population genetic analyses (principal component analysis, genetic distance mapping, haplotype sharing analyses) and compared past demographic models through coalescent simulations using Bayesian Serial SimCoal and Approximate Bayesian Computation. Comparisons of genetic data from ancient and modern-day populations revealed significant changes in the mitochondrial makeup of North East Europeans through time. Mesolithic foragers showed high frequencies and diversity of haplogroups U (U2e, U4, U5a), a pattern observed previously in European hunter-gatherers from Iberia to Scandinavia. In contrast, the presence of mitochondrial DNA haplogroups C, D, and Z in Early Metal Age individuals suggested discontinuity with Mesolithic hunter-gatherers and genetic influx from central/eastern Siberia. We identified remarkable genetic dissimilarities between prehistoric and modern-day North East Europeans/Saami, which suggests an important role of post-Mesolithic migrations from Western Europe and subsequent population replacement/extinctions. This work demonstrates how ancient DNA can improve our understanding of human population movements across Eurasia. It contributes to the description of the spatio-temporal distribution of mitochondrial diversity and will be of significance for future reconstructions of the history of Europeans.
dc.description.statementofresponsibilityClio Der Sarkissian, Oleg Balanovsky, Guido Brandt, Valery Khartanovich, Alexandra Buzhilova, Sergey Koshel, Valery Zaporozhchenko, Detlef Gronenborn, Vyacheslav Moiseyev, Eugen Kolpakov, Vladimir Shumkin, Kurt W. Alt, Elena Balanovska, Alan Cooper, Wolfgang Haak, the Genographic Consortium
dc.identifier.citationPLoS Genetics, 2013; 9(2):1-17
dc.identifier.doi10.1371/journal.pgen.1003296
dc.identifier.issn1553-7390
dc.identifier.issn1553-7404
dc.identifier.orcidCooper, A. [0000-0002-7738-7851]
dc.identifier.orcidHaak, W. [0000-0003-2475-2007]
dc.identifier.urihttp://hdl.handle.net/2440/78404
dc.language.isoen
dc.publisherPublic Library of Science
dc.rights© 2013 Der Sarkissian et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
dc.source.urihttps://doi.org/10.1371/journal.pgen.1003296
dc.subjectGenographic Consortium
dc.subjectHumans
dc.subjectDNA, Mitochondrial
dc.subjectGenetics, Population
dc.subjectPopulation Dynamics
dc.subjectGenotype
dc.subjectHaplotypes
dc.subjectArchaeology
dc.subjectEurope
dc.subjectRussia
dc.subjectSiberia
dc.subjectGene Flow
dc.subjectGenome, Mitochondrial
dc.subjectGenetic Variation
dc.subjectScandinavian and Nordic Countries
dc.subjectWhite People
dc.titleAncient DNA reveals prehistoric gene-flow from Siberia in the complex human population history of north east Europe
dc.typeJournal article
pubs.publication-statusPublished

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