Human Genetics

, Volume 110, Issue 1, pp 80–88

Three major lineages of Asian Y chromosomes: implications for the peopling of east and southeast Asia

  • Atsushi Tajima
  • I-Hung Pan
  • Goonnapa Fucharoen
  • Supan Fucharoen
  • Masafumi Matsuo
  • Katsushi Tokunaga
  • Takeo Juji
  • Masanori Hayami
  • Keiichi Omoto
  • Satoshi Horai
Original Investigation

DOI: 10.1007/s00439-001-0651-9

Cite this article as:
Tajima, A., Pan, IH., Fucharoen, G. et al. Hum Genet (2002) 110: 80. doi:10.1007/s00439-001-0651-9

Abstract.

DNA variation on the non-recombining portion of the Y chromosome was examined in 610 male samples from 14 global populations in north, east, and southeast Asia, and other regions of the world. Eight haplotypes were observed by analyses of seven biallelic polymorphic markers (DYS257108, DYS287, SRY4064, SRY10831, RPS4Y711, M9, and M15) and were unevenly distributed among the populations. Maximum parsimony tree for the eight haplotypes showed that these haplotypes could be classified into four distinct lineages characterized by three key mutations: an insertion of the Y Alu polymorphic (YAP) element at DYS287, a C-to-G transversion at M9, and a C-to-T transition at RPS4Y711. Of the four lineages, three major lineages (defined by the allele of YAP+, M9-G, and RPS4Y-T, respectively) accounted for 98.6% of the Asian populations studied, indicating that these three paternal lineages have contributed to the formation of modern Asian populations. Moreover, phylogenetic analysis revealed three monophyletic Asian clusters, which consisted of north Asian, Japanese, and Han Chinese/southeast Asian populations, respectively. Coalescence analysis in the haplotype tree showed that the estimated ages for three key mutations ranged from 53,000 to 95,000 years, suggesting that the three lineages were separated from one another during early stages of human evolutionary history. The distribution patterns of the Y-haplotypes and mutational ages for the key markers suggest that three major groups with different paternal ancestries separately migrated to prehistoric east and southeast Asia.

Copyright information

© Springer-Verlag 2001

Authors and Affiliations

  • Atsushi Tajima
    • 1
  • I-Hung Pan
    • 2
  • Goonnapa Fucharoen
    • 3
  • Supan Fucharoen
    • 4
  • Masafumi Matsuo
    • 5
  • Katsushi Tokunaga
    • 6
  • Takeo Juji
    • 7
  • Masanori Hayami
    • 8
  • Keiichi Omoto
    • 9
  • Satoshi Horai
    • 1
  1. 1.Department of Biosystems Science, The Graduate University for Advanced Studies (Sokendai), Hayama, Kanagawa 240-0193, JapanJapan
  2. 2.National Taiwan University, Taipei, TaiwanTaiwan
  3. 3.Department of Clinical Microscopy, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, ThailandThailand
  4. 4.Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, ThailandThailand
  5. 5.Division of Molecular Medicine, Kobe University Graduate School of Medicine, Kobe, JapanJapan
  6. 6.Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, JapanJapan
  7. 7.Japanese Red Cross Central Blood Center, Tokyo, JapanJapan
  8. 8.Laboratory of Viral Pathogenesis, Institute for Virus Research, Kyoto University, Kyoto, JapanJapan
  9. 9.St. Andrew's University, Osaka, JapanJapan