Abstract
More than a half of the northern Asian pool of human mitochondrial DNA (mtDNA) is fragmented into a number of subclades of haplogroups C and D, two of the most frequent haplogroups throughout northern, eastern, central Asia and America. While there has been considerable recent progress in studying mitochondrial variation in eastern Asia and America at the complete genome resolution, little comparable data is available for regions such as southern Siberia – the area where most of northern Asian haplogroups, including C and D, likely diversified. This gap in our knowledge causes a serious barrier for progress in understanding the demographic pre-history of northern Eurasia in general. Here we describe the phylogeography of haplogroups C and D in the populations of northern and eastern Asia. We have analyzed 770 samples from haplogroups C and D (174 and 596, respectively) at high resolution, including 182 novel complete mtDNA sequences representing haplogroups C and D (83 and 99, respectively). The present-day variation of haplogroups C and D suggests that these mtDNA clades expanded before the Last Glacial Maximum (LGM), with their oldest lineages being present in the eastern Asia. Unlike in eastern Asia, most of the northern Asian variants of haplogroups C and D began the expansion after the LGM, thus pointing to post-glacial re-colonization of northern Asia. Our results show that both haplogroups were involved in migrations, from eastern Asia and southern Siberia to eastern and northeastern Europe, likely during the middle Holocene.
Highlights
The territory of northern Asia is of crucial importance for the study of early human dispersal and the peopling of the Americas
The study of Derenko et al [10] focused mainly on southern Siberian mitochondrial DNA (mtDNA) variation and provided evidence that the southern Siberian mtDNA pool harbors several lineages associated with the Late Upper Paleolithic and/or early Neolithic dispersals from both eastern Asia and western Eurasia
Volodko et al [12] have considerably expanded their previous survey of mtDNA diversity in Commander Aleuts [13] via complete mtDNA sequencing of haplogroups A, C and D dominating in northeastern Eurasian populations (Nganasan, Yukaghir, Chuvantsi, Chukchi, Siberian Eskimos)
Summary
Volodko et al [12] have considerably expanded their previous survey of mtDNA diversity in Commander Aleuts [13] via complete mtDNA sequencing of haplogroups A, C and D dominating in northeastern Eurasian populations (Nganasan, Yukaghir, Chuvantsi, Chukchi, Siberian Eskimos) Results of these studies are undoubtedly useful for northern Asian mtDNA phylogeny reconstruction, but uncovering all of the most basal variation in the northern Asian mtDNA haplogroups will require major sampling and sequencing efforts with focusing on as much as possible diverse set of Siberian aboriginal populations
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