Phylogeography and Microevolution of Y-Chromosome Haplogroup N-B482: Ancient Diffusion and Modern Relicts

Abstract

N-M231 is a major human Y-haplogroup comprising the widespread haplogroup N-Z4762 and a rarer haplogroup N-B482. Due to the limited data available, N-B482 has not been previously studied. We have compiled and analyzed a dataset of 88 N-B482 Y-STR haplotypes, utilizing a vast collection of samples from the Biobank of North Eurasia and genetic data published elsewhere. According to the phylogenetic analysis of ancient and modern samples, N-B482 has 2 subhaplogroups that diverged at ~12,600 YBP: the Balkan subhaplogroup N-P189.2 and the Altaian subhaplogroup N-Y147969. According to whole-genome sequencing, N-Y147969 comprises the North Altaian (N-Y149059) and Mongolian (N-MF36295) branches. The analysis of 28 ancient genomes revealed that N-B482 was widespread in Eurasia during the Neolithic, Bronze, and Iron Ages, spanning from Baikal to Hungary and from the Arctic to Uzbekistan, but it is now considered a relict. The number of its modern carriers is vanishingly small: the analysis of our samples from North Eurasia’s indigenous populations (n ˜ 25,000) detects N-B482 presence only in North Altaians (Kumandins, Chelkans, Tubalars), Mongolians, and Kalmyks. The primary cause of extinction for N-B482 lineages is genetic drift. The Galton-Watson theory of branching processes suggests a high probability of extinction for lineages with uniparental inheritance.