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

J Hum Genet. 2007;52(8):690-693. doi: 10.1007/s10038-007-0167-9. Epub 2007 Jun 14.

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.

MeSH terms

  • Alanine / chemistry
  • Alanine / genetics
  • Alleles
  • Asian People / genetics*
  • Gene Frequency
  • Genotype
  • Humans
  • Membrane Transport Proteins / genetics*
  • Population / genetics
  • Skin Pigmentation / genetics*
  • Threonine / chemistry
  • Threonine / genetics
  • Ultraviolet Rays

Substances

  • Membrane Transport Proteins
  • OCA2 protein, human
  • Threonine
  • Alanine