Diversity of Mitochondrial DNA Lineages in South Siberia

Abstract

SummaryTo investigate the origin and evolution of aboriginal populations of South Siberia, a comprehensive mitochondrial DNA (mtDNA) analysis (HVR1 sequencing combined with RFLP typing) of 480 individuals, representing seven Altaic‐speaking populations (Altaians, Khakassians, Buryats, Sojots, Tuvinians, Todjins and Tofalars), was performed. Additionally, HVR2 sequence information was obtained for 110 Altaians, providing, in particular, some novel details of the East Asian mtDNA phylogeny. The total sample revealed 81% East Asian (M*, M7, M8, M9, M10, C, D, G, Z, A, B, F, N9a, Y) and 17% West Eurasian (H, U, J, T, I, N1a, X) matrilineal genetic contribution, but with regional differences within South Siberia. The highest influx of West Eurasian mtDNAs was observed in populations from the East Sayan and Altai regions (from 12.5% to 34.5%), whereas in populations from the Baikal region this contribution was markedly lower (less than 10%). The considerable substructure within South Siberian haplogroups B, F, and G, together with the high degree of haplogroup C and D diversity revealed there, allows us to conclude that South Siberians carry the genetic imprint of early‐colonization phase of Eurasia. Statistical analyses revealed that South Siberian populations contain high levels of mtDNA diversity and high heterogeneity of mtDNA sequences among populations (Fst = 5.05%) that might be due to geography but not due to language and anthropological features.

Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages

“…23,38,39 The networks relating HVRI sequences within some of the haplogroups described were constructed by using a reduced-median algorithm 40 as implemented in the Network 3.0 program. The dating method employed 41 is based on the average number of mutations accumulated from an ancestral sequence as a linear function of time and mutation rate.…”

Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers

“…This emphasize the complex background of Northwest Siberian genetic diversity, shaped by recurrent founder effects, admixture and drift in these indigenous populations. Figure 5 Median-joining networks for Eurasian (a) mtDNA U4 sequences (colors for the U4 network are the following: gray (original Khanty and Mansi data with additional reference populations 40,44,45 ); white (Northeast European populations 16,25,46 -48 ) and black (South Siberian populations 12,15,49 grouped with Central Asian populations 50,51 and Central Siberia Yakuts 52 )) and Y chromosome (b) N3 (the N3 network corresponds the following colors: gray (original Khanty and Mansi data); white (Northeast European populations 28,53 ) and black (Central Siberian Yakuts 54 )) and (c) N2 Y-short tandem repeat (STR) haplotypes (nine loci) (the N2 network corresponds the following colors: gray (original Khanty and Mansi data); white (Northeast European populations 11,28 ) and black (South Siberian populations 11 grouped with Northeast Siberian Eskimos 11 )).…”

Mosaics of ancient mitochondrial DNA: positive indicators of nonauthenticity

“…For instance, the transition 16229 is reported only three times in the European mtDNA pool, 60 -62 but in the 'Etruscans' it appears on two different branches of the mtDNA phylogeny, and in one of the sequences even jointly with the neighbouring transition 16228. Worldwide, the latter transition was so far found in only one haplogroup D lineage, 63 in two different haplogroup B lineages of one dataset, 64 and in two further datasets, 65,66 both of which appear to be problematic. 24,67 Summarizing, there is ample evidence for the action of phantom mutations and/or post mortem damage on the Etruscan data.…”