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MBE Advance Access published online on May 30, 2003
Molecular Biology and Evolution, doi:10.1093/molbev/msg121
Molecular Biology and Evolution © Society for Molecular Biology and Evolution 2003; all rights reserved
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Accepted March 10, 2003
© 2003 Society for Molecular Biology and Evolution

Original Articles

Phylogenetic Network and Physicochemical Properties of Nonsynonymous Mutations in the Protein-Coding Genes of Human Mitochondrial DNA

Jukka S. Moilanen 1 Kari Majamaa 1*

1 Biocenter and Department of Neurology, University of Oulu, Oulu, Finland

* To whom correspondence should be addressed. E-mail: kari.majamaa{at}oulu.fi.


  Abstract

Theories on molecular evolution predict that phylogenetically recent nonsynonymous mutations should contain more non-neutral amino acid replacements than more ancient mutations. We analyzed 840 complete coding-region human mitochondrial DNA (mtDNA) sequences for nonsynonymous mutations and evaluated the mutations in terms of the physicochemical properties of the amino acids involved. We identified 465 distinct missense and 6 nonsense mutations. 48% of the amino acid replacements changed polarity, 26% size, 8% charge, 32% aliphaticity, 13% aromaticity and 44% hydropathy. The reduced-median networks of the amino acid changes revealed relatively few differences between the major continent-specific haplogroups, but a high variation and highly starlike phylogenies within the haplogroups. 56% of the mutations were private and 25% homoplasic. Nonconservative changes were more common than expected among the private mutations, but less common among the homoplasic mutations. The asymptotic maximum of the number of nonsynonymous mutations in European mtDNA was estimated to be 1081. The results suggested that amino acid replacements in the periphery of phylogenetic networks are more deleterious than those in the central parts, indicating that purifying selection prevents the fixation of some alleles.

Key Words: human mitochondrial DNA, molecular evolution, population genetics, amino acid substitution, phylogenetics, neutral theory


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