Temporal Trails of Natural Selection in Human Mitogenomes

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Sankarasubramanian, Sankar
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Marcy Uyenoyama

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2009
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Abstract

Mildly deleterious mutations initially contribute to the diversity of a population, but later they are selected against at high frequency and are eliminated eventually. Using over 1,500 complete human mitochondrial genomes along with those of Neanderthal and Chimpanzee, I provide empirical evidence for this prediction by tracing the footprints of natural selection over time. The results show a highly significant inverse relationship between the ratio of nonsynonymous-tosynonymous divergence (dN/dS) and the age of human haplogroups. Furthermore, this study suggests that slightly deleterious mutations constitute up to 80% of the mitochondrial amino acid replacement mutations detected in human populations and that over the last 500,000 years these mutations have been gradually removed.

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Molecular Biology and Evolution

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26

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4

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This is a pre-copy-editing, author-produced PDF of an article accepted for publication in Molecular Biology and Evolution following peer review. The definitive publisher-authenticated version Molecular Biology and Evolution Volume 26, Issue 4, 2009, Pages 715-717 is available online at: http://dx.doi.org/10.1093/molbev/msp005.

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Population, Ecological and Evolutionary Genetics

Biochemistry and Cell Biology

Evolutionary Biology

Genetics

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