Short Communication

Journal of Human Genetics (2007) 52, 690–693; doi:10.1007/s10038-007-0167-9

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

Isao Yuasa1, Kazuo Umetsu2, Shinji Harihara3, Aya Miyoshi4, Naruya Saitou5, Kyung Sook Park6, Bumbein Dashnyam7, Feng Jin8, Gérard Lucotte9, Prasanta K Chattopadhyay10, Lotte Henke11 and Jürgen Henke11

  1. 1Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan
  2. 2Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata, Japan
  3. 3Department of Biological Sciences, Graduate School of Science, University of Tokyo, Tokyo, Japan
  4. 4Department of Forensic Medicine, Fukuoka University School of Medicine, Fukuoka, Japan
  5. 5Division of Population Genetics, National Institute of Genetics, Mishima, Japan
  6. 6Department of Biology, Sungshin Women's University, Seoul, South Korea
  7. 7Institute of Biological Sciences, Mongolian Academy of Sciences, Ulaan Baator, Mongolia
  8. 8Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China
  9. 9Center of Molecular Neurogenetics, Paris, France
  10. 10Amity Institute of Forensic Sciences, Defence Colony, New Delhi, India
  11. 11Institut für Blutgruppenforschung, Cologne, Germany

Correspondence: Isao Yuasa, Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan. E-mail:

Received 11 April 2007; Accepted 24 May 2007; Published online 14 June 2007.



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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