HERC1 polymorphisms: population‐specific variations in haplotype composition |
| |
| Authors: | Isao Yuasa Kazuo Umetsu Hiroaki Nishimukai Yasuo Fukumori Shinji Harihara Naruya Saitou Feng Jin Prasanta K Chattopadhyay Lotte Henke Jürgen Henke |
| |
| Institution: | 1. Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan;2. Department of Forensic Medicine, Faculty of Medicine, Yamagata University, Yamagata, Japan;3. Division of Legal Medicine, Ehime University School of Medicine, Ehime, Japan;4. Osaka Red Cross Blood Center, Osaka, Japan;5. Department of Biological Sciences, Graduate School of Science, University of Tokyo, Tokyo, Japan;6. Division of Population Genetics, National Institute of Genetics, Mishima, Japan;7. Institute of Psychology, Chinese Academy of Sciences, Beijing, China;8. Amity Institute of Forensic Sciences, Defence Colony, New Delhi, India;9. Institut für Blutgruppenforschung, Cologne, Germany |
| |
| 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. Copyright © 2009 John Wiley & Sons, Ltd. |
| |
| Keywords: | genotyping haplotype HERC1 single nucleotide polymorphism population study |
|
|
