Abstract

The Y-chromosome haplogroup N-M231 (Hg N) is distributed widely in eastern and central Asia, Siberia, as well as in eastern and northern Europe. Previous studies suggested a counterclockwise prehistoric migration of Hg N from eastern Asia to eastern and northern Europe. However, the root of this Y chromosome lineage and its detailed dispersal pattern across eastern Asia are still unclear. We analyzed haplogroup profiles and phylogeographic patterns of 1,570 Hg N individuals from 20,826 males in 359 populations across Eurasia. We first genotyped 6,371 males from 169 populations in China and Cambodia, and generated data of 360 Hg N individuals, and then combined published data on 1,210 Hg N individuals from Japanese, Southeast Asian, Siberian, European and Central Asian populations. The results showed that the sub-haplogroups of Hg N have a distinct geographical distribution. The highest Y-STR diversity of the ancestral Hg N sub-haplogroups was observed in the southern part of mainland East Asia, and further phylogeographic analyses supports an origin of Hg N in southern China. Combined with previous data, we propose that the early northward dispersal of Hg N started from southern China about 21 thousand years ago (kya), expanding into northern China 12–18 kya, and reaching further north to Siberia about 12–14 kya before a population expansion and westward migration into Central Asia and eastern/northern Europe around 8.0–10.0 kya. This northward migration of Hg N likewise coincides with retreating ice sheets after the Last Glacial Maximum (22–18 kya) in mainland East Asia.

Highlights

  • In recent years, extensive studies of the Y-chromosome lineages in East Asian populations have been conducted and found that the dominant haplogroups O-M175, D-M174, C-M130, and N-M231 in East Asian populations all have a southern origin [1–8]

  • Rootsi et al (2007) proposed that the haplogroup N-M231 (Hg N) lineage dispersed from East Asia to northwestern Europe following a counter-clock-wise migratory route and speculated that the original homeland of Hg N likely traced to Southeast Asia, and had split with O-M175 about 34 kya

  • We retrieved 1,210 Hg N data from other published studies, including 1,197 Hg N males identified from 68 populations in Siberia, Central Asia and Europe [3,12,16,28,29], and 13 Hg N males from 4 populations in Japan, Laos and southern China [3,13,19]

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Summary

Introduction

Extensive studies of the Y-chromosome lineages in East Asian populations have been conducted and found that the dominant haplogroups O-M175, D-M174, C-M130, and N-M231 in East Asian populations all have a southern origin [1–8]. Among these East Asian Y-chromosome lineages, D-M174 represents the earliest northward migration, beginning from the southern part of East Asia of what is mainland Southeast Asia and southern China about 50–60 kya [5]. Rootsi et al (2007) proposed that the Hg N lineage dispersed from East Asia to northwestern Europe following a counter-clock-wise migratory route and speculated that the original homeland of Hg N likely traced to Southeast Asia, and had split with O-M175 about 34 kya. Due to the limited populations studied for N-M231 from East Asia and Southeast Asia, Hg N’s putative center of origin and the chronology of dispersals remain inconclusive

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