Origin and post-glacial dispersal of mitochondrial DNA haplogroups C and D in northern Asia - PubMed (original) (raw)

Origin and post-glacial dispersal of mitochondrial DNA haplogroups C and D in northern Asia

Miroslava Derenko et al. PLoS One. 2010.

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.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1

Figure 1. Complete mtDNA phylogenetic tree of haplogroup C.

This schematic tree is based on phylogenetic tree presented in Figure S1. Time estimates (in kya) shown for mtDNA subclusters are based on the complete mtDNA genome clock (the first value) and the synonymous clock (the second value) . The size of each circle is proportional to the number of individuals sharing the corresponding haplotype, with the smallest size corresponding to one individual. Geographic origin is indicated by different colors: northeastern Asian – in blue, central and southern Siberian – in green, eastern Asian – in red, Indian – in grey, European – in yellow, and others (i.e. of unknown population origin) – in white.

Figure 2

Figure 2. Complete mtDNA phylogenetic tree of subhaplogroup C5c.

Numbers along links refer to substitutions scored relative to rCRS . Transversions are further specified; ins denotes insertion of nucleotide; symbol < denotes parallel mutation. Subject origins are: Poles (B_96; Ser_37_08; Ser_162_06), Teleut (Tel), Tubalar (NV#Tuba from Volodko et al. [12]), and FamilyTreeDNA Project individual of unknown population origin (FTDNA).

Figure 3

Figure 3. Complete mtDNA phylogenetic tree of haplogroup D.

This schematic tree is based on phylogenetic tree presented in Figure S2. Time estimates (in kya) shown for mtDNA subclusters are based on the complete mtDNA genome clock (the first value) and the synonymous clock (the second value) . The size of each circle is proportional to the number of individuals sharing the corresponding haplotype, with the smallest size corresponding to one individual. Geographic origin is indicated by different colors: northeastern Asian – in blue, central and southern Siberian – in green, eastern Asian – in red, Indian – in grey, European – in yellow, and others (i.e. of unknown population origin) – in white.

Figure 4

Figure 4. Complete mtDNA phylogenetic tree of subhaplogroup D4b1a2.

Numbers along links refer to substitutions scored relative to rCRS . Transversions are further specified; symbol < denotes parallel mutation, back mutation is underlined. Subject origins are: Russian (Rus), Buryat (Br), Barghut (Bt), Altaian (Alt), Khamnigan (Hm), Tuvinian (NV#Tuv from Volodko et al. , Yukaghir (NV#Yuk from Volodko et al. [12]), Tubalar (NV#Tub from Volodko et al. [12]), Eskimo (NV#Esk from Volodko et al. [12]), Canadian Inuit (IG#CanInnuit from Ingman, Gyllensten [32]), and Tatar (BM#Tm from Malyarchuk et al. [58]).

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