title: OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.
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.
authors.affiliation: Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, 683-8503, Japan. yuasai@grape.med.tottori-u.ac.jp.
authors.forename: Isao
authors.initials: I
authors.lastname: Yuasa
authors.affiliation: Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Umetsu
authors.affiliation: Department of Biological Sciences, Graduate School of Science, University of Tokyo, Tokyo, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Harihara
authors.affiliation: Department of Forensic Medicine, Fukuoka University School of Medicine, Fukuoka, Japan.
authors.forename: Aya
authors.initials: A
authors.lastname: Miyoshi
authors.affiliation: Division of Population Genetics, National Institute of Genetics, Mishima, Japan.
authors.forename: Naruya
authors.initials: N
authors.lastname: Saitou
authors.affiliation: Department of Biology, Sungshin Women's University, Seoul, South Korea.
authors.forename: Kyung Sook
authors.initials: KS
authors.lastname: Park
authors.affiliation: Institute of Biological Sciences, Mongolian Academy of Sciences, Ulaan Baator, Mongolia.
authors.forename: Bumbein
authors.initials: B
authors.lastname: Dashnyam
authors.affiliation: Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Jin
authors.affiliation: Center of Molecular Neurogenetics, Paris, France.
authors.forename: Gérard
authors.initials: G
authors.lastname: Lucotte
authors.affiliation: Amity Institute of Forensic Sciences, Defence Colony, New Delhi, India.
authors.forename: Prasanta K
authors.initials: PK
authors.lastname: Chattopadhyay
authors.affiliation: Institut für Blutgruppenforschung, Cologne, Germany.
authors.forename: Lotte
authors.initials: L
authors.lastname: Henke
authors.affiliation: Institut für Blutgruppenforschung, Cologne, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Henke
mesh_terms: D000409:Alanine / Q000737:chemistry / Q000235:genetics; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D011153:Population / Q000235:genetics; D012880:Skin Pigmentation / Q000235:genetics*; D013912:Threonine / Q000737:chemistry / Q000235:genetics; D014466:Ultraviolet Rays
chemical_list: D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D013912:Threonine; D000409:Alanine