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MBE Advance Access published online on January 15, 2009
Molecular Biology and Evolution, doi:10.1093/molbev/msp005
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© The Author 2009. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Letter

Temporal trails of natural selection in human mitogenomes

Sankar Subramanian1,2

1 Allan Wilson Centre for Molecular Ecology and Evolution, Institute of Molecular BioSciences, Massey University, Auckland, New Zealand
2 Griffith School of Environment, Griffith University, Nathan Qld 4111, Australia

Address for correspondence: Dr. Sankar Subramanian, Griffith School of Environment, Griffith University, 170 Kessels Road, Nathan QLD 4111, Australia, Phone: +61-7-3735 7495, Fax: +61-7-3735 7459, E-mail: s.subramanian{at}griffith.edu.au

Received for publication October 30, 2008. Revision received December 30, 2008. Accepted for publication January 8, 2009.

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 1500 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- to synonymous 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.

Key Words: human evolution • haplogroups • natural selection • deleterious mutations • coalescence time and the neutral theory


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