纯化与适应性选择对人类线粒体DNA区域变异的影响。

Effects of purifying and adaptive selection on regional variation in human mtDNA.

作者信息

Ruiz-Pesini Eduardo, Mishmar Dan, Brandon Martin, Procaccio Vincent, Wallace Douglas C

机构信息

Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697-3940, USA.

出版信息

Science. 2004 Jan 9;303(5655):223-6. doi: 10.1126/science.1088434.

DOI:10.1126/science.1088434

PMID:14716012

Abstract

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.

摘要

对1125条全球人类线粒体DNA（mtDNA）序列进行的系统发育分析，使得所有核苷酸替换能够根据其出现顺序进行定位。研究发现，内部支系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再到北极东北西伯利亚呈增加趋势。在来自高纬度地区的多个mtDNA谱系的根部发现了特别高度保守的氨基酸替换。这些相同的谱系与能量缺乏疾病的易感性增加以及长寿相关。因此，特定的mtDNA替换突变使我们的祖先能够适应更北方的气候，而这些相同的变异如今正在影响我们的健康。