Y-Chromosome distribution within the geo-linguistic landscape of northwestern Russia

Abstract

Populations of northeastern Europe and the Uralic mountain range are found in close geographic proximity, but they have been subject to different demographic histories. The current study attempts to better understand the genetic paternal relationships of ethnic groups residing in these regions. We have performed high-resolution haplotyping of 236 Y-chromosomes from populations in northwestern Russia and the Uralic mountains, and compared them to relevant previously published data. Haplotype variation and age estimation analyses using 15 Y-STR loci were conducted for samples within the N1b, N1c1 and R1a1 single-nucleotide polymorphism backgrounds. Our results suggest that although most genetic relationships throughout Eurasia are dependent on geographic proximity, members of the Uralic and Slavic linguistic families and subfamilies, yield significant correlations at both levels of comparison making it difficult to denote either linguistics or geographic proximity as the basis for their genetic substrata. Expansion times for haplogroup R1a1 date approximately to 18 000 YBP, and age estimates along with Network topology of populations found at opposite poles of its range (Eastern Europe and South Asia) indicate that two separate haplotypic foci exist within this haplogroup. Data based on haplogroup N1b challenge earlier findings and suggest that the mutation may have occurred in the Uralic range rather than in Siberia and much earlier than has been proposed (12.9±4.1 instead of 5.2±2.7 kya). In addition, age and variance estimates for haplogroup N1c1 suggest that populations from the western Urals may have been genetically influenced by a dispersal from northeastern Europe (eg, eastern Slavs) rather than the converse.

Afghanistan from a Y-chromosome perspective

“…Alternatively, Klyosov 36 claims that haplogroup R1a1a-M198 originated in South Siberia about 20 kya. Unfortunately, discrepancies between the methods used to compute TMRCA in these previous studies 16,35,36 hinder fair comparisons with those generated in the present report. The high R1a1a haplotype diversity observed in the network projection ( Supplementary Figure 4a), as well as the substantially older time estimates and high haplotype variance (Supplementary Table 5) obtained for South Central Asia (Pakistan and India) as compared with South Central Russia (Shors and Tuvinians) and Afghanistan, argues for the South Central Asian origin of this marker.…”

“…16 Eastern Europe (Ukraine) 34 and South Central Asia 16,35 are proposed as the most likely places of origin because in both regions R1a1a-M198 is observed at frequencies 450%. According to Underhill et al, 16 the highest Y-STR haplotype diversity for the R1a1a*(xM458) lineage is observed in South Central Asia with a coalescent time of 14 kya, suggesting that this region is the likely source of the dispersal for the M198 mutation.…”

Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations

“…In most cases, the estimates from Batwing were greater than those estimates from Network-a difference previously noted (30,31). Unlike ρ-estimates, the estimates generated with Batwing are useful only when the demographic model that is used is appropriate for the sample set.…”

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

“…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. 36 The age of this haplogroup in South Siberia is also high, about 18.2 ± 10.5 Ka.…”