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

被引：646

作者：

Ruiz-Pesini, E

Mishmar, D

Brandon, M

Procaccio, V

Wallace, DC ^{[1
]}

机构：

[1] Univ Calif Irvine, Ctr Mol & Mitochondrial Med & Genet, Irvine, CA 92697 USA

[2] Univ Calif Irvine, Inst Gen & Bioinformat, Irvine, CA 92697 USA

来源：

SCIENCE | 2004年 / 303卷 / 5655期

关键词：

D O I：

10.1126/science.1088434

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

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页码：223 / 226

页数：4

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