On the origin of Y-chromosome haplogroup N1b (2024)

Recently, Mirabal et al¹ have noted that their results of Y-chromosome haplogroup (hg) N1b analysis challenge earlier findings^{2, 3} and suggest that N1b-P43 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). Mirabal et al performed high-resolution haplotyping of Y chromosomes from populations in the East European region of Russia and the Uralic mountains and compared them with relevant previously published data. Meanwhile, they did not find it possible to compare the data obtained with South Siberian data set, so we are intending here to make up this deficiency. In addition to the data obtained by Mirabal et al, we have used the data on hg N1b diversity of Northwest Siberian Khants and Mansi⁴ and Russian Pomors⁵ as well as our published data on N1b diversity in South Siberians (Altaians, Shors, Tuvinians, Tofalars, Sojots, Khakassians, Buryats, Mongolians and Kalmyks) and Central and Northeast Siberians (Yakuts, Evenks, Evens and Koryaks).³ In the latter study, 83 individuals were found as belonging to hg N1b. Median-joining analysis of 53 N1b haplotypes revealed in 168 individuals from Siberia, Ural mountains and Eastern Europe shows (as in the previous studies^{2, 3}) a well-resolved bipartite distribution of haplotypes with separate Siberian and European branches, N1b-A and N1b-E, respectively (Figure 1). Previous studies have shown that South Siberian subcluster, N1b-A, may have originated first, later giving rise to the derived Northwest Siberian/Uralic/Northeast European subcluster, N1b-E.^{2, 3} However, new data presented here do not allow resolving the problem of geographic origin of hg N1b ancestor because the putative ancestral N1b haplotype (indicated by a star in Figure 1) appears to be equally widespread both in South Siberia (among Khakassians, Altaians, Mongolians, Tofalars, Evenks and Shors) and in Northwest Siberia (among Khants and Mansi). It is noteworthy, however, that earlier haplotype preceding subcluster N1b-E in the network is the haplotype revealed in Khants, pointing to the possibility of Northwest Siberian origin of the N1b-E subcluster.