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OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.
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.
Afiliação
  • Yuasa I; Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, 683-8503, Japan. yuasai@grape.med.tottori-u.ac.jp.
  • Umetsu K; Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
  • Harihara S; Department of Biological Sciences, Graduate School of Science, University of Tokyo, Tokyo, Japan.
  • Miyoshi A; Department of Forensic Medicine, Fukuoka University School of Medicine, Fukuoka, Japan.
  • Saitou N; Division of Population Genetics, National Institute of Genetics, Mishima, Japan.
  • Park KS; Department of Biology, Sungshin Women's University, Seoul, South Korea.
  • Dashnyam B; Institute of Biological Sciences, Mongolian Academy of Sciences, Ulaan Baator, Mongolia.
  • Jin F; Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China.
  • Lucotte G; Center of Molecular Neurogenetics, Paris, France.
  • Chattopadhyay PK; Amity Institute of Forensic Sciences, Defence Colony, New Delhi, India.
  • Henke L; Institut für Blutgruppenforschung, Cologne, Germany.
  • Henke J; Institut für Blutgruppenforschung, Cologne, Germany.
J Hum Genet ; 52(8): 690-693, 2007.
Article em En | MEDLINE | ID: mdl-17568986
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Pigmentação da Pele / Povo Asiático Limite: Humans Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2007 Tipo de documento: Article País de afiliação: Japão
Texto completo
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Imprimir
XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Pigmentação da Pele / Povo Asiático Limite: Humans Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2007 Tipo de documento: Article País de afiliação: Japão