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

Sardana A Fedorova,Natalya Trofimova,Ludmila P Osipova,Sergey I Zhadanov,Richard Villems,Baharak Hooshiar Kashani,Ene Metspalu,Siiri Rootsi,Fedor A Platonov,Maere Reidla,Mait Metspalu,Anna Olivieri,Kristiina Tambets,Mikhail I Tomsky,Antonio Torroni,Mikhail I Voevoda,Elza K Khusnutdinova

doi:10.1186/1471-2148-13-127

Abstract

BackgroundSakha – 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.ResultsWe 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and of the analysis of more than 500,000 autosomal SNPs of 758 individuals from 55 populations, including 40 previously unpublished samples from Siberia.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.ConclusionsOur 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.

Highlights

Sakha – an area connecting South and Northeast Siberia – is significant for understanding the history of peopling of Northeast Eurasia and the Americas
Analysis of autosomal single nucleotide polymorphisms (SNPs) data confirms the genetic continuity between Sakha 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

Summary

Introduction

Sakha – an area connecting South and Northeast Siberia – is significant for understanding the history of peopling of Northeast Eurasia and the Americas. The southern part of Sakha extends to southern Siberia, which has served as an entry region into northern Asia [1,2]. Siberia connects Sakha with the Inner Eurasian steppe belt, which stretches from the Black Sea to the Yellow Sea and has enabled human movements across large distances from east to west and vice versa. Because Sakha, the Lena valley, served as the main pathway to the arctic coast and, beyond that, America, during Paleolithic times [5], an understanding of its settlement history is important to elucidate the colonization of Northeast Eurasia as well as the peopling of the Americas.

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