title: High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea.
abstract: BACKGROUND
  Koreans are generally considered a Northeast Asian group, thought to be related to Altaic-language-speaking populations. However, recent findings have indicated that the peopling of Korea might have been more complex, involving dual origins from both southern and northern parts of East Asia. To understand the male lineage history of Korea, more data from informative genetic markers from Korea and its surrounding regions are necessary. In this study, 25 Y-chromosome single nucleotide polymorphism markers and 17 Y-chromosome short tandem repeat (Y-STR) loci were genotyped in 1,108 males from several populations in East Asia.
  
  
  RESULTS
  In general, we found East Asian populations to be characterized by male haplogroup homogeneity, showing major Y-chromosomal expansions of haplogroup O-M175 lineages. Interestingly, a high frequency (31.4%) of haplogroup O2b-SRY465 (and its sublineage) is characteristic of male Koreans, whereas the haplogroup distribution elsewhere in East Asian populations is patchy. The ages of the haplogroup O2b-SRY465 lineages (~9,900 years) and the pattern of variation within the lineages suggested an ancient origin in a nearby part of northeastern Asia, followed by an expansion in the vicinity of the Korean Peninsula. In addition, the coalescence time (~4,400 years) for the age of haplogroup O2b1-47z, and its Y-STR diversity, suggest that this lineage probably originated in Korea. Further studies with sufficiently large sample sizes to cover the vast East Asian region and using genomewide genotyping should provide further insights.
  
  
  CONCLUSIONS
  These findings are consistent with linguistic, archaeological and historical evidence, which suggest that the direct ancestors of Koreans were proto-Koreans who inhabited the northeastern region of China and the Korean Peninsula during the Neolithic (8,000-1,000 BC) and Bronze (1,500-400 BC) Ages.
authors.affiliation: School of Biological Sciences, Seoul National University, Seoul 151-747, Korea.|Eastern District Office, National Forensic Service, Gangwon-do 220-805, Korea.
authors.forename: Soon-Hee
authors.initials: SH
authors.lastname: Kim
authors.affiliation: Department of Biological Sciences, Dankook University, Cheonan 330-714, Korea.
authors.forename: Ki-Cheol
authors.initials: KC
authors.lastname: Kim
authors.affiliation: Cardiovascular Genome Center, Yonsei University College of Medicine, Seoul 120-749, Korea.
authors.forename: Dong-Jik
authors.initials: DJ
authors.lastname: Shin
authors.affiliation: Center for Genome Science, Korea National Institute of Health, Seoul 122-701, Korea.
authors.forename: Han-Jun
authors.initials: HJ
authors.lastname: Jin
authors.affiliation: DNA Analysis Division, National Forensic Service, Seoul 158-707, Korea.
authors.forename: Kyoung-Don
authors.initials: KD
authors.lastname: Kwak
authors.affiliation: DNA Analysis Division, National Forensic Service, Seoul 158-707, Korea.
authors.forename: Myun-Soo
authors.initials: MS
authors.lastname: Han
authors.affiliation: Research Institute of Pharmaceutical Sciences and College of Pharmacy, Seoul National University, Seoul 151-742, Korea.
authors.forename: Joon-Myong
authors.initials: JM
authors.lastname: Song
authors.affiliation: School of Biological Sciences, Seoul National University, Seoul 151-747, Korea.
authors.forename: Won
authors.initials: W
authors.lastname: Kim
authors.affiliation: Department of Biological Sciences, Dankook University, Cheonan 330-714, Korea.
authors.forename: Wook
authors.initials: W
authors.lastname: Kim