Open Access Highly Accessed Research article

Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia

Sardana A Fedorova12, Maere Reidla2*, Ene Metspalu2, Mait Metspalu3, Siiri Rootsi3, Kristiina Tambets3, Natalya Trofimova4, Sergey I Zhadanov5, Baharak Hooshiar Kashani6, Anna Olivieri6, Mikhail I Voevoda7, Ludmila P Osipova8, Fedor A Platonov9, Mikhail I Tomsky1, Elza K Khusnutdinova104, Antonio Torroni6 and Richard Villems1123

Author Affiliations

1 Department of Molecular Genetics, Yakut Research Center of Complex Medical Problems, Russian Academy of Medical Sciences and North-Eastern Federal University, Yakutsk, Russia

2 Department of Evolutionary Biology, University of Tartu, Tartu, Estonia

3 Estonian Biocentre, Tartu, Estonia

4 Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa, Russia

5 Department of Anthropology, University of Pennsylvania, Philadelphia, USA

6 Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy

7 Institute of Internal Medicine, Siberian Branch of Russian Academy of Medical Sciences, Novosibirsk, Russia

8 Institute of Genetics and Cytology, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia

9 Institute of Health, North-East Federal University, Yakutsk, Russia

10 Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russia

11 Estonian Academy of Sciences, Tallinn, Estonia

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BMC Evolutionary Biology 2013, 13:127  doi:10.1186/1471-2148-13-127

Published: 19 June 2013



Sakha – an area connecting South and Northeast Siberia – is significant for understanding the history of peopling of Northeast Eurasia and the Americas. Previous studies have shown a genetic contiguity between Siberia and East Asia and the key role of South Siberia in the colonization of Siberia.


We report the results of a high-resolution phylogenetic analysis of 701 mtDNAs and 318 Y chromosomes from five native populations of Sakha (Yakuts, Evenks, Evens, Yukaghirs and Dolgans) and of the analysis of more than 500,000 autosomal SNPs of 758 individuals from 55 populations, including 40 previously unpublished samples from Siberia. Phylogenetically terminal clades of East Asian mtDNA haplogroups C and D and Y-chromosome haplogroups N1c, N1b and C3, constituting the core of the gene pool of the native populations from Sakha, connect Sakha and South Siberia. Analysis of autosomal SNP data confirms the genetic continuity between Sakha and South Siberia. Maternal lineages D5a2a2, C4a1c, C4a2, C5b1b and the Yakut-specific STR sub-clade of Y-chromosome haplogroup N1c can be linked to a migration of Yakut ancestors, while the paternal lineage C3c was most likely carried to Sakha by the expansion of the Tungusic people. MtDNA haplogroups Z1a1b and Z1a3, present in Yukaghirs, Evens and Dolgans, show traces of different and probably more ancient migration(s). Analysis of both haploid loci and autosomal SNP data revealed only minor genetic components shared between Sakha and the extreme Northeast Siberia. Although the major part of West Eurasian maternal and paternal lineages in Sakha could originate from recent admixture with East Europeans, mtDNA haplogroups H8, H20a and HV1a1a, as well as Y-chromosome haplogroup J, more probably reflect an ancient gene flow from West Eurasia through Central Asia and South Siberia.


Our high-resolution phylogenetic dissection of mtDNA and Y-chromosome haplogroups as well as analysis of autosomal SNP data suggests that Sakha was colonized by repeated expansions from South Siberia with minor gene flow from the Lower Amur/Southern Okhotsk region and/or Kamchatka. The minor West Eurasian component in Sakha attests to both recent and ongoing admixture with East Europeans and an ancient gene flow from West Eurasia.

mtDNA; Y chromosome; Autosomal SNPs; Sakha