HERC1 polymorphisms: population-specific variations in haplotype composition

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	HERC1 polymorphisms: population-specific variations in haplotype composition
	Yuasa, Isao 1; Umetsu, Kazuo 2; Nishimukai, Hiroaki 3; Fukumori, Yasuo 4; Harihara, Shinji 5; Saitou, Naruya 6; Jin, Feng7 ; Chattopadhyay, Prasanta K.8; Henke, Lotte 9; Henke, Juergen 9; Isao Yuasa
摘要	Human HERC1 is one of six HERC proteins and may play an important role in intracellular membrane trafficking. The human HERC1 gene is suggested to have been affected by local positive selection. To assess the global frequency distributions of coding and non-coding single nucleotide polymorphisms (SNPs) in the HERC1 gene, we developed a new simultaneous genotyping method for four SNPs, and applied this method to investigate 1213 individuals from 12 global populations. The results confirmed remarked differences in the allele and haplotype frequencies between East Asian and non-East Asian populations. One of the three common haplotypes observed was found to be characteristic of East Asians, who showed a relatively uniform distribution of haplotypes. Information on haplotypes would be useful for testing the function of polymorphisms in the HERC1 gene. This is the first study to investigate the distribution of HERC1 polymorphisms in various populations.; Human HERC1 is one of six HERC proteins and may play an important role in intracellular membrane trafficking. The human HERC1 gene is suggested to have been affected by local positive selection. To assess the global frequency distributions of coding and non-coding single nucleotide polymorphisms (SNPs) in the HERC1 gene, we developed a new simultaneous genotyping method for four SNPs, and applied this method to investigate 1213 individuals from 12 global populations. The results confirmed remarked differences in the allele and haplotype frequencies between East Asian and non-East Asian populations. One of the three common haplotypes observed was found to be characteristic of East Asians, who showed a relatively uniform distribution of haplotypes. Information on haplotypes would be useful for testing the function of polymorphisms in the HERC1 gene. This is the first study to investigate the distribution of HERC1 polymorphisms in various populations. Copyright (C) 2009 John Wiley & Sons, Ltd.
关键词	genotyping haplotype HERC1 single nucleotide polymorphism population study
学科领域	遗传学
	2009-08-01
语种	英语
发表期刊	CELL BIOCHEMISTRY AND FUNCTION
ISSN	0263-6484
卷号	27 期号:6 页码:402-405
期刊论文类型	Article
收录类别	SCI
WOS记录号	WOS:000269384800012
引用统计	被引频次：3[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	https://ir.psych.ac.cn/handle/311026/5445
专题	中国科学院心理研究所回溯数据库(1956-2010)
通讯作者	Isao Yuasa
作者单位	1.Tottori Univ, Fac Med, Div Legal Med, Yonago, Tottori 6838503, Japan 2.Yamagata Univ, Fac Med, Dept Forens Med, Yamagata 990, Japan 3.Ehime Univ, Sch Med, Div Legal Med, Matsuyama, Ehime 790, Japan 4.Osaka Red Cross Blood Ctr, Osaka, Japan 5.Univ Tokyo, Grad Sch Sci, Dept Biol Sci, Tokyo 113, Japan 6.Natl Inst Genet, Div Populat Genet, Mishima, Shizuoka 411, Japan 7.Chinese Acad Sci, Inst Psychol, Beijing 100101, Peoples R China 8.Amity Inst Forens Sci, New Delhi, India 9.Inst Blutgrp Forsch, Cologne, Germany
推荐引用方式 GB/T 7714	Yuasa, Isao,Umetsu, Kazuo,Nishimukai, Hiroaki,et al. HERC1 polymorphisms: population-specific variations in haplotype composition[J]. CELL BIOCHEMISTRY AND FUNCTION,2009,27(6):402-405.
APA	Yuasa, Isao.,Umetsu, Kazuo.,Nishimukai, Hiroaki.,Fukumori, Yasuo.,Harihara, Shinji.,...&Isao Yuasa.(2009).HERC1 polymorphisms: population-specific variations in haplotype composition.CELL BIOCHEMISTRY AND FUNCTION,27(6),402-405.
MLA	Yuasa, Isao,et al."HERC1 polymorphisms: population-specific variations in haplotype composition".CELL BIOCHEMISTRY AND FUNCTION 27.6(2009):402-405.

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