title: HERC1 polymorphisms: population-specific variations in haplotype composition.
abstract: 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.
authors.affiliation: Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan. yuasai@med.tottori-u.ac.jp
authors.forename: Isao
authors.initials: I
authors.lastname: Yuasa
authors.forename: Kazuo
authors.initials: K
authors.lastname: Umetsu
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Nishimukai
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Fukumori
authors.forename: Shinji
authors.initials: S
authors.lastname: Harihara
authors.forename: Naruya
authors.initials: N
authors.lastname: Saitou
authors.forename: Feng
authors.initials: F
authors.lastname: Jin
authors.forename: Prasanta K
authors.initials: PK
authors.lastname: Chattopadhyay
authors.forename: Lotte
authors.initials: L
authors.lastname: Henke
authors.forename: Jürgen
authors.initials: J
authors.lastname: Henke
mesh_terms: D000465:Algorithms; D000818:Animals; D005260:Female; D005787:Gene Frequency; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D002679:Pan troglodytes / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D044382:Population Groups / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C102169:HERC1 protein, human; D044767:Ubiquitin-Protein Ligases