Journal
PEERJ
Volume 5, Issue -, Pages -Publisher
PEERJ INC
DOI: 10.7717/peerj.4143
Keywords
Fitness landscape; Pathogenic mutations; Homoplasy; Mitochondria
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Funding
- Russian Science Foundation [14-50-00150, 14-50-00029]
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Propensities for different amino acids within a protein site change in the course of evolution, so that an amino acid deleterious in a particular species may be acceptable at the same site in a different species. Here, we study the amino acid-changing variants in human niitochondrial genes, and analyze their occurrence in non-hunian species. We show that substitutions giving rise to such variants tend to occur in lineages closely related to human more frequently than in more distantly related lineages, indicating that a human variant is more likely to be deleterious in more distant species. Unexpectedly, i substitutions giving rise to amino acids that correspond to alleles pathogenic n humans also more frequently occur in more closely related lineages. Therefore, a pathogenic variant still tends to be more acceptable n human mitochondria than a variant that may only be fit after a substantial perturbation or tne protein structure.
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