Phylogeography of Y-chromosome haplogroup O3a2b2-N6 reveals patrilineal traces of Austronesian populations on the eastern coastal regions of Asia

PLoS One. 2017 Apr 5;12(4):e0175080. doi: 10.1371/journal.pone.0175080. eCollection 2017.

Abstract

Austronesian diffusion is considered one of the greatest dispersals in human history; it led to the peopling of an extremely vast region, ranging from Madagascar in the Indian Ocean to Easter Island in Remote Oceania. The Y-chromosome haplogroup O3a2b*-P164(xM134), a predominant paternal lineage of Austronesian populations, is found at high frequencies in Polynesian populations. However, the internal phylogeny of this haplogroup remains poorly investigated. In this study, we analyzed -seventeen Y-chromosome sequences of haplogroup O3a2b*-P164(xM134) and generated a revised phylogenetic tree of this lineage based on 310 non-private Y-chromosome polymorphisms. We discovered that all available O3a2b*-P164(xM134) samples belong to the newly defined haplogroup O3a2b2-N6 and samples from Austronesian populations belong to the sublineage O3a2b2a2-F706. Additionally, we genotyped a series of Y-chromosome polymorphisms in a large collection of samples from China. We confirmed that the sublineage O3a2b2a2b-B451 is unique to Austronesian populations. We found that O3a2b2-N6 samples are widely distributed on the eastern coastal regions of Asia, from Korea to Vietnam. Furthermore, we propose- that the O3a2b2a2b-B451 lineage represents a genetic connection between ancestors of Austronesian populations and ancient populations in North China, where foxtail millet was domesticated about 11,000 years ago. The large number of newly defined Y-chromosome polymorphisms and the revised phylogenetic tree of O3a2b2-N6 will be helpful to explore the origin of proto-Austronesians and the early diffusion process of Austronesian populations.

Publication types

  • Historical Article

MeSH terms

  • Asian People / genetics*
  • China
  • Chromosomes, Human, Y / genetics*
  • Genotyping Techniques
  • Haplotypes / genetics
  • History, Ancient
  • Human Migration / history
  • Humans
  • Korea
  • Male
  • Native Hawaiian or Other Pacific Islander / genetics*
  • Phylogeography
  • Polymorphism, Genetic / genetics
  • Vietnam

Grants and funding

This study was supported by the National Natural Science Foundation of China (31222030 and 31671297 to HL, 31401060 to YS, 31271338 to LJ, 31501011 to YL, 91331204 to SHX), MOE Scientific Research Project (113022A to HL), Shanghai Shuguang Project (14SG05 to HL), Ministry of Science and Technology of China (MOST) (2016YFC0900300 to HL) and Science and Technology Commission of Shanghai Municipality (STCSM) (14YF1406800 to YL). LHW was supported by Future Scientists Project of China Scholarship Council. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.