Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions

Abstract

In order to investigate the genetic history of autochthonous South Siberian populations and to estimate the contribution of distinct patrilineages to their gene pools, we have analyzed 17 Y-chromosomal binary markers (YAP, RPS4Y(711), SRY-8299, M89, M201, M52, M170, 12f2, M9, M20, 92R7, SRY-1532, DYS199, M173, M17, Tat, and LLY22 g) in a total sample of 1,358 males from 14 ethnic groups of Siberia (Altaians-Kizhi, Teleuts, Shors, Tuvinians, Todjins, Tofalars, Sojots, Khakassians, Buryats, Evenks), Central/Eastern Asia (Mongolians and Koreans) and Eastern Europe (Kalmyks and Russians). Based on both, the distribution pattern of Y-chromosomal haplogroups and results on AMOVA analysis we observed the statistically significant genetic differentiation between the populations of Baikal and Altai-Sayan regions. We suggest that these regional differences can be best explained by different contribution of Central/Eastern Asian and Eastern European paternal lineages into gene pools of modern South Siberians. The population of the Baikal region demonstrates the prevalence of Central/Eastern Asian lineages, whereas in the populations of Altai and Sayan regions the highest paternal contribution resulted from Eastern European descent is revealed. Yet, our data on Y-chromosome STRs variation demonstrate the clear differences between the South Siberian and Eastern European R1a1-lineages with the evolutionary ages compatible with divergence time between these two regional groups.

The phylogenetic and geographic structure of Y-chromosome haplogroup R1a

“…Although we could assign haplotypes to various haplogroups, power to identify substructure within hg R1a-M198 was limited, consistent with previous work. 22,52 Although haplotype diversity is generally very high (H40.95) in all haplogroups (Supplementary Table 3), lower diversities occur in south Siberian paragroup R1a-Z93* (H ¼ 0.921), in Jewish R1a-M582 (H ¼ 0.844) and in Roma R1a-M780 (H ¼ 0.759), consistent with founder effects that are evident in the network patterns for these populations (Supplementary Figure 2).…”

Ancient links between Siberians and Native Americans revealed by subtyping the Y chromosome haplogroup Q1a

“…Previous studies have shown that haplogroup R1a1-M17 is present in South Siberia from the Holocene period (11.3±3.2 Ka), 24 while the oldest age estimates dating back to Mesolithic times (approximately 18 Ka) were obtained for this haplogroup in South India and South Pakistan. 37 Similarly, high estimation of the age has been received for haplogroup R1b1b1-M73 (22.9 ± 9.3 Ka), based on variation of tri-and tetranucleotide repeats in populations of the Caucasus, South Ural and East Europe.…”

“…We reported earlier phylogeographic pattern of haplogroup R1a1-M17 in Siberian populations, indicating that Shors and Teleuts had the highest frequency of this haplogroup (more than 50%), and that R1a1-M17 generally was more frequent in populations from Altai and eastern Sayan region than in the adjacent areas. 24 Subsequent SNP analysis demonstrates that two R1b haplogroups-R1b1b1-M73 and R1b1b2-M269-are present in some Siberian populations (Table 1). R1b1b2-M269 that is frequent in Europe is rarely observed in diverse set of Siberian populations: Evenks (2.4%), Buryats (0.7%), Mongols (4.3%) and Tofalars (6.7%).…”

Y-chromosome distributions among populations in Northwest China identify significant contribution from Central Asian pastoralists and lesser influence of western Eurasians

“…17 Results of the MDS were presented by the two-dimensional plots. The genetic structure of populations was dissected by the analysis of molecular variance (AMOVA) approach, 18 22 and 236 western Eurasians belonging to J2-M172 23 were also included, in the light of the putative origins of these two haplogroups. For the integration of data between reported and present, MJ networks for R1a1-M17 haplotypes were based on seven STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393), and for J2-M17 based on six STR loci (DYS19, DYS388, DYS389I, DYS390, DYS391 and DYS392).…”