A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe

Abstract

A large part of Y chromosome lineages in East European and East Asian human populations belong to haplogroup (hg) NO, which is composed of two sister clades N-M231 and O-M175. The O-clade is relatively old (around 30 thousand years (ky)) and encompasses the vast majority of east and Southeast Asian male lineages, as well as significant proportion of those in Oceanian males. On the other hand, our detailed analysis of hg N suggests that its high frequency in east Europe is due to its more recent expansion westward on a counter-clock northern route from inner Asia/southern Siberia, approximately 12-14 ky ago. The widespread presence of hg N in Siberia, together with its absence in Native Americans, implies its spread happened after the founder event for the Americas. The most frequent subclade N3, arose probably in the region of present day China, and subsequently experienced serial bottlenecks in Siberia and secondary expansions in eastern Europe. Another branch, N2, forms two distinctive subclusters of STR haplotypes, Asian (N2-A) and European (N2-E), the latter now mostly distributed in Finno-Ugric and related populations. These phylogeographic patterns provide evidence consistent with male-mediated counter-clockwise late Pleistocene-Holocene migratory trajectories toward Northwestern Europe from an ancestral East Asian source of Paleolithic heritage.

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

“…Table 2) cluster into the Northeast European clade as opposed to Central Siberian Yakut (Figure 5b). In contrast, within haplogroup N2, the Khanty and Mansi STR haplotypes (Supplementary Table 2) are divided between two previously defined 11 West and East Eurasian clades (Figure 5c). However, the mtDNA U7 and Y chromosome N2 haplogroups among the Khanty and Mansi are probably of more recent origin.…”

“…These Y chromosome haplogroups are typically found in West (R1a1) 41 or across northern Eurasia (N2, N3a). 11 On the basis of the Y chromosome haplogroup frequencies, the Khanty and Mansi are significantly different (Po0.05) from each other and also from the Khanty described by Karafet et al 7 The Khanty and Mansi Y-STR minimal haplotypes were compared to the YHRD database of 37 (Figure 1 legend). 9,11,41 -43 In this large dataset, both the mtDNA and Y chromosome data revealed similar patterns (Figure 1a and b).…”

“…This suggests a recent founder effect of U7 haplogroup in Khanty and Mansi with a probable Central Asian origin. Similarly, the Southeast Asian-derived Y chromosome N2 lineage, 11 allegedly specific for Uralic speakers, is also found among the IndoEuropean and Altaic speakers, but it is clearly more frequent in the Northwest Siberia (6.9 -92.1%). 7 Recently, two subclusters within the N2 lineage were described: the East (N2-A) and the West Eurasian (N2-E) clusters.…”

“…7 Recently, two subclusters within the N2 lineage were described: the East (N2-A) and the West Eurasian (N2-E) clusters. 11 Both East (N2-A) and West Eurasian (N2-E)-associated N2 subclusters are found among the Khanty and Mansi (Supplementary Table 2), whereas the Northeast European or South Siberian populations possess only either one of the subclusters (Figure 5c). The coalescent ages of these subclusters are considered relatively young (N2-E, 3.9 -9.7; N2-A, 4.2 -8.2 Kyr BP), 11 although the diversity observed here within the N2-E subcluster (0.933 ± 0.054) is significantly higher than in N2-A (0.500 ± 0.121).…”

The phylogenetic and geographic structure of Y-chromosome haplogroup R1a

“…[1][2][3][4][5] The International Society of Genetic Genealogy 10 has aggregated these variants and those discovered with previous technologies into a public resource that population surveys can leverage to further elucidate the geographic origins of and structure within haplogroups. [6][7][8][9][10][11][12][13] Y-chromosome haplogroup R (hg R) is one of 20 that comprise the standardized global phylogeny. 14 It consists of two main components: R1-M173 and R2-M479 15 (Figure 1).…”