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

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OCA2*481Thr , a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations (Citations: 5)


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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.

Journal: Journal of Human Genetics - J HUM GENET , vol. 52, no. 8, pp. 690-693, 2007

DOI: 10.1007/s10038-007-0167-9

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- ...Most of these samples were from the same set as those in a previous study (Yuasa et al. 2007)...
- ...Noncomplementary nucleotides were introduced into primers to give a difference in length between two PCR products, to enhance the specificity of primers, and to optimize annealing temperature of primers (Watanabe et al. 1997; Yuasa et al. 2007)...
Isao Yuasa, et al. Molecular basis of complement factor I (CFI) polymorphism: one of two ...

References (27)

A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation (Citations: 60)

David L. Duffy, Grant W. Montgomery, Wei Chen, Zhen Zhen Zhao, Lien Le, Michael R. James, Nicholas K. Hayward, Nicholas G. Martin, Richard A. Sturm

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The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model (Citations: 35)

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Journal: Human Molecular Genetics - HUM MOL GENET , vol. 15, no. Review Iss, pp. R176-R181, 2006
Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P (Citations: 17)

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Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes (Citations: 57)

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Signatures of Positive Selection in Genes Associated with Human Skin Pigmentation as Revealed from Analyses of Single Nucleotide Polymorphisms (Citations: 43)

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Citations (5)

A Japanese-specific allele in the GALNT11 gene (Citations: 1)

Isao Yuasa, Kazuo Umetsu, Aya Matsusue, Hiroaki Nishimukai, Shinji Harihara, Yasuo Fukumori, Naruya Saitou, Feng Jin, Prasanta K. Chattopadhyay, Lotte Henke, Jürgen Henke

Journal: Legal Medicine - LEG MED , vol. 12, no. 4, pp. 208-211, 2010
HERC1 polymorphisms: population-specific variations in haplotype composition (Citations: 1)

Isao Yuasa, Kazuo Umetsu, Hiroaki Nishimukai, Yasuo Fukumori, Shinji Harihara, Naruya Saitou, Feng Jin, Prasanta K. Chattopadhyay, Lotte Henke, Jürgen Henke

Journal: Cell Biochemistry and Function - CELL BIOCHEM FUNCT , vol. 27, no. 6, pp. 402-405, 2009
Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific (Citations: 3)

Isao Yuasa, Mayumi Nakagawa, Kazuo Umetsu, Shinji Harihara, Aya Matsusue, Hiroaki Nishimukai, Yasuo Fukumori, Naruya Saitou, Kyung Sook Park, Feng Jin, Gérard Lucotte, Prasanta K. Chattopadhyayhttp://academic.research.microsoft.com/io.ashx?type=5&id=37112515&selfId1=0&selfId2=0&maxNumber=12&query=

Journal: Journal of Human Genetics - J HUM GENET , vol. 53, no. 11, pp. 1016-1021, 2008
A speed sensorless vector control of induction motor operating at high efficiency taking core loss into account (Citations: 2)

Kouki Matsuse, Shotaro Taniguchi, Tatsuya Yoshizumi, Kazushige Namiki

Journal: Legal Medicine - LEG MED , vol. 2, pp. 1259-1266 vol.2, 1999
Computing motion using analog VLSI vision chips: an experimental comparison among four approaches (Citations: 23)

Christof Koch, Andrew Moore, Wyeth Bair, Timothy Horiuchi, Brooks Bishofberger, John Lazzaro

Conference: Workshop on Visual Motion - WVM , 1991


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Keywords (6)

Citation Context (1)

Isao Yuasa, et al. Molecular basis of complement factor I (CFI) polymorphism: one of two ...

References (27)

A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation (Citations: 60)

The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model (Citations: 35)

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P (Citations: 17)

Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes (Citations: 57)

Signatures of Positive Selection in Genes Associated with Human Skin Pigmentation as Revealed from Analyses of Single Nucleotide Polymorphisms (Citations: 43)

Citations (5)

A Japanese-specific allele in the GALNT11 gene (Citations: 1)

HERC1 polymorphisms: population-specific variations in haplotype composition (Citations: 1)

Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific (Citations: 3)

A speed sensorless vector control of induction motor operating at high efficiency taking core loss into account (Citations: 2)

Computing motion using analog VLSI vision chips: an experimental comparison among four approaches (Citations: 23)