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Updated: Jul 14, 2026

Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish
Published on: March 1, 2022
OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations
Isao Yuasa1, Kazuo Umetsu2, Shinji Harihara3
1Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, 683-8503, Japan. yuasai@grape.med.tottori-u.ac.jp.
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.
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