中国科学院机构知识库网格
Chinese Academy of Sciences Institutional Repositories Grid
首页 机构 成果 学者
  
  1. CAS IR Grid
  2. 昆明动物研究所
  3. 昆明动物研究所
  4. 遗传资源与进化国家重点实验室
  5. 分子进化基因组学
Evidence of gene conversion in the evolutionary process of the codon 41/42 (-CTTT) mutation causing beta-thalassemia in southern China

文献类型：期刊论文

作者Zhang W1; Cai WW1,2; Zhou WP3,4,5; Li HP6; Li L1; Yan W7; Deng QK7; Zhang YP3,4; Fu YX[*]8; Xu XM[*]1
刊名JOURNAL OF MOLECULAR EVOLUTION
出版日期2008
卷号66期号:5页码:436-445
关键词gene conversion evolutionary process balancing selection beta-thalassemia malaria
ISSN号0022-2844
通讯作者yunxin.fu@uth.tmc.edu
合作状况其它
英文摘要The 4-bp deletion (-CTTT) at codon 41/42 (CD41/42) of the human beta-globin gene represents one of the most common beta-thalassemia mutations in East Asia and Southeast Asia, which is historically afflicted with endemic malaria, thus hypothetically evolving under natural selection by malaria infection. To understand the evolutionary process of generating the beta(CD41/42) allele and its maintenance, including the effect of natural selection on the pattern of linkage disequilibrium (LD), we sequenced a 15.933-kb region spanning 20.693 kb of the beta-globin cluster surrounding the 4-bp deletion using a sample from a Chinese population consisting of 24 normal individuals and 16 heterozygotes for the deletion. Forty-nine polymorphic sites were found. Analysis of the data, using a variety of methods including formal population genetics analysis and visual approaches, suggests that the spread of the CD41/42 (-CTTT) deletion is most likely mediated by interallelic gene conversion, although independent deletions in different lineages are also possible. The neutrality test resulted in a significant positive Tajima's D for the beta-globin locus, which is consistent with the existence of balancing selection. This suggests that the 4-bp deletion that occurred at this locus may be an event that is subject to natural selection, due to malaria, which leads to the heterozygote advantage, spread widely with further help by conversion and migration. The evolutionary process of this mutant through gene conversion that could conceivably take place between the 4-bp deletion and the normal sequence in the respective region is discussed in detail.
收录类别SCI
资助信息This study was partially supported by the National Natural Science Foundation of China (30571023), the Fund of National Key Basic Research Developments Programme of the Ministry of Science and Technol- ogy, PR China (2001CB510308), the National Science Fund for Distinguished Young Scholars (30325037, to Xiang-Min Xu), and research funding from the Department of Science and Technology of Hainan Province (No. 2006-15 to Wang-Wei Cai).
原文出处200866436.pdf
语种英语
公开日期2010-08-24
源URL[http://159.226.149.42:8088/handle/152453/4289]  
专题昆明动物研究所_分子进化基因组学
昆明动物研究所_细胞与分子进化开放实验室
作者单位1.Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China
2.Department of Biochemistry, Hainan Medical College, Haikou 571101, China
3.Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China
4.Laboratory for Conservation and Utilization of Bio-resources, Yunnan University, Kunming 650091, China
5.School of Life Sciences, University of Science and Technology of China, Hefei 230027, China
6.Institute of Genetics, University of Cologne, Cologne, Germany
7.Department of Bioinformatics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China
8.Human Genetics Center, School of Public Health, University of Texas at Houston, 1200 Herman Pressler, Room E453, P.O. Box 20186, Houston, TX 77030, USA
推荐引用方式
GB/T 7714		 Zhang W,Cai WW,Zhou WP,et al. Evidence of gene conversion in the evolutionary process of the codon 41/42 (-CTTT) mutation causing beta-thalassemia in southern China[J]. JOURNAL OF MOLECULAR EVOLUTION,2008,66(5):436-445.
APA Zhang W.,Cai WW.,Zhou WP.,Li HP.,Li L.,...&Xu XM[*].(2008).Evidence of gene conversion in the evolutionary process of the codon 41/42 (-CTTT) mutation causing beta-thalassemia in southern China.JOURNAL OF MOLECULAR EVOLUTION,66(5),436-445.
MLA Zhang W,et al."Evidence of gene conversion in the evolutionary process of the codon 41/42 (-CTTT) mutation causing beta-thalassemia in southern China".JOURNAL OF MOLECULAR EVOLUTION 66.5(2008):436-445.

入库方式： OAI收割

来源：昆明动物研究所

浏览0
下载0
收藏0
其他版本

除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。