Effects of purifying and adaptive selection on regional variation in human mtDNA
Effects of purifying and adaptive selection on regional variation in human mtDNA
复制标题
DOI：
10.1126/science.1088434
复制
发表时间：
2004-01-09
期刊：
影响因子：
56.9
通讯作者：
Wallace, DC
中科院分区：
文献类型：
--
作者：
Ruiz-Pesini, E;Mishmar, D;Wallace, DC
1125个全球人类线粒体DNA（mtDNA）序列的系统发育分析允许根据其发生顺序的所有核苷酸取代的定位。内部分支替换突变的相对频率和氨基酸保守性从热带非洲到温带欧洲和北极东北西伯利亚增加。特别是高度保守的氨基酸替换被发现在多个mtDNA谱系的高纬度地区的根。这些相同的血统与能量缺乏疾病的倾向增加以及长寿相关。因此，特定的线粒体DNA替换突变允许我们的祖先适应更多的北方气候，而这些相同的变异正在影响我们今天的健康。
A phylogenetic analysis of 1125 global human mitochondrial DNA (mtDNA) sequences permitted positioning of all nucleotide substitutions according to their order of occurrence. The relative frequency and amino acid conservation of internal branch replacement mutations was found to increase from tropical Africa to temperate Europe and arctic northeastern Siberia. Particularly highly conserved amino acid substitutions were found at the roots of multiple mtDNA lineages from higher latitudes. These same lineages correlate with increased propensity for energy deficiency diseases as well as longevity. Thus, specific mtDNA replacement mutations permitted our ancestors to adapt to more northern climates, and these same variants are influencing our health today.