Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity.

ABSTRACT: We used detailed phylogenetic trees for human mtDNA, combined with pathogenicity predictions for each amino acid change, to evaluate selection on mtDNA-encoded protein variants. Protein variants with high pathogenicity scores were significantly rarer in the older branches of the tree. Variants that have formed and survived multiple times in the human phylogenetics tree had significantly lower pathogenicity scores than those that only appear once in the tree. We compared the distribution of pathogenicity scores observed on the human phylogenetic tree to the distribution of all possible protein variations to define a measure of the effect of selection on these protein variations. The measured effect of selection increased exponentially with increasing pathogenicity score. We found no measura

SUBMITTER: Pereira L 

PROVIDER: S-EPMC3071914 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature