Journal of Human Genetics

, Volume 52, Issue 8, pp 690–693 | Cite as

OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations

  • Isao Yuasa
  • Kazuo Umetsu
  • Shinji Harihara
  • Aya Miyoshi
  • Naruya Saitou
  • Kyung Sook Park
  • Bumbein Dashnyam
  • Feng Jin
  • Gérard Lucotte
  • Prasanta K. Chattopadhyay
  • Lotte Henke
  • Jürgen Henke
Short Communication


Asians as well as Europeans have light skin, for which no genes to date are known to be responsible. A mutation, Ala481Thr (c.G1559A), in the oculocutaneous albinism type II (OCA2) gene has approximately 70% function of the wild type allele in melanogenesis. In this study, the distribution of the mutation was investigated in a total of 2,615 individuals in 20 populations from various areas. OCA2*481Thr prevailed almost exclusively in a northeastern part of Asia. The allele frequency was highest in Buryat (0.24) in Mongolia and showed a north–south downward geographical gradient. These findings suggest that OCA2*481Thr arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations.


OCA2 Pigmentation Polymorphism Population study Skin color 


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Copyright information

© The Japan Society of Human Genetics and Springer 2007

Authors and Affiliations

  • Isao Yuasa
    • 1
  • Kazuo Umetsu
    • 2
  • Shinji Harihara
    • 3
  • Aya Miyoshi
    • 4
  • Naruya Saitou
    • 5
  • Kyung Sook Park
    • 6
  • Bumbein Dashnyam
    • 7
  • Feng Jin
    • 8
  • Gérard Lucotte
    • 9
  • Prasanta K. Chattopadhyay
    • 10
  • Lotte Henke
    • 11
  • Jürgen Henke
    • 11
  1. 1.Division of Legal Medicine, Faculty of MedicineTottori UniversityYonagoJapan
  2. 2.Department of Experimental and Forensic Pathology, Faculty of MedicineYamagata UniversityYamagataJapan
  3. 3.Department of Biological Sciences, Graduate School of ScienceUniversity of TokyoTokyoJapan
  4. 4.Department of Forensic MedicineFukuoka University School of MedicineFukuokaJapan
  5. 5.Division of Population GeneticsNational Institute of GeneticsMishimaJapan
  6. 6.Department of BiologySungshin Women’s UniversitySeoulSouth Korea
  7. 7.Institute of Biological SciencesMongolian Academy of SciencesUlaan BaatorMongolia
  8. 8.Institute of Genetics and Developmental BiologyChinese Academy of SciencesBeijingChina
  9. 9.Center of Molecular NeurogeneticsParisFrance
  10. 10.Amity Institute of Forensic SciencesNew DelhiIndia
  11. 11.Institut für BlutgruppenforschungCologneGermany

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