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- Title
OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.
- Authors
Yuasa, Isao; Umetsu, Kazuo; Harihara, Shinji; Miyoshi, Aya; Saitou, Naruya; Park, Kyung Sook; Dashnyam, Bumbein; Jin, Feng; Lucotte, Gérard; Chattopadhyay, Prasanta K; Henke, Lotte; Henke, Jürgen
- Abstract
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.
- Publication
Journal of human genetics, 2007, Vol 52, Issue 8, p690
- ISSN
1434-5161
- Publication type
Journal Article
- DOI
10.1007/s10038-007-0167-9