遗传 ›› 2009, Vol. 31 ›› Issue (2): 147-152.doi: 10.3724/SP.J.1005.2009.00147

• 研究报告 • 上一篇    下一篇

中国3个不同地域藏族群体线粒体ATP6、ATP8和Cyt b基因的比较: 探查自然选择在基因组的印记

顾明亮1, 汪业军2, 史磊1, 张永彪1, 褚嘉祐1   

  1. 1. 中国医学科学院/北京协和医学院医学生物学研究所医学遗传学研究室, 昆明 650118;
    2. 香港中文大学生物系, 香港
  • 收稿日期:2008-05-13 修回日期:2008-07-04 出版日期:2009-02-10 发布日期:2009-02-10
  • 通讯作者: 褚嘉祐

Comparison on mitochondrial ATP6, ATP8 and Cyt b genes be-tween Chinese Tibetans in three different zones: detecting the signature of natural selection on mitochondrial genome

GU Ming-Liang1, WANG Ye-Jun2, SHI Lei1, ZHANG Yong-Biao1, CHU Jia-You1   

  1. 1. Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences (CAMS) & Institute of Medical Biology, Peking Union Medical College (PUMC), Kunming 650118, China;
    2. Department of Biology, the Chinese University of Hongkong, Hongkong, China
  • Received:2008-05-13 Revised:2008-07-04 Online:2009-02-10 Published:2009-02-10
  • Contact: CHU Jia-You

摘要: 线粒体基因组(Mitochondrial DNA, mtDNA)具有区别于核基因组的诸多特性(例如缺乏重组等), 在人类进化历史的研究领域具有巨大的应用价值。文章通过对3个不同地域藏族群体线粒体基因组的ATP6、ATP8和Cyt b 基因约2 kb区域的测序研究发现: 随着海拔的增加, 3个基因的全序列、ATP6和ATP8基因逐渐偏离中性模式, 但未呈现显著性差异; 随着海拔的降低, Cyt b 基因受到纯化选择的作用逐渐增大; ATP6基因可能存在适应性选择, 并且随着海拔的增高呈现出适应性选择增强的趋势; 选择的主要因素应该是该群体所处的特殊的地理环境, 即不同的地理环境具有直接的选择作用。

关键词: 藏族群体, 线粒体基因, ATP6, Cyt b, ATP8

Abstract: Mitochondrial DNA (mtDNA) differs from nuclear genome in many aspects such as lack of recombination, thus the investigation of mtDNA plays an essential role in human evolutionary history. We compared different sequences (~2 kb) of ATP6, ATP8 and Cyt b genes in mtDNA among Tibetans in three different zones and found that the whole mtDNA sequences of the three genes, ATP6 and ATP 8 genes deviate gradually from neutral model with the increase of altitudes, yet no differences were observed. Also we found that the effect of purifying selection on Cyt b gene was elevated with the decrease of altitudes. Meanwhile, there was a possibility for the adaptive selection in ATP6 gene, which had an enhanced trend with the increase of altitudes. Thus, the geographic environment is the main determinant for selection, namely, different geographic environment has direct effect on selection.