Substitutions into amino acids that are pathogenic in human mitochondrial proteins are more frequent in lineages closely related to human than in distant lineages
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 mitochondrial genes, and analy...
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| Format: | Article |
| Language: | English |
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PeerJ Inc.
2017-12-01
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| Series: | PeerJ |
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| Online Access: | https://peerj.com/articles/4143.pdf |
| _version_ | 1797425691853062144 |
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| author | Galya V. Klink Andrey V. Golovin Georgii A. Bazykin |
| author_facet | Galya V. Klink Andrey V. Golovin Georgii A. Bazykin |
| author_sort | Galya V. Klink |
| collection | DOAJ |
| description | 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 mitochondrial genes, and analyze their occurrence in non-human 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, substitutions giving rise to amino acids that correspond to alleles pathogenic in humans also more frequently occur in more closely related lineages. Therefore, a pathogenic variant still tends to be more acceptable in human mitochondria than a variant that may only be fit after a substantial perturbation of the protein structure. |
| first_indexed | 2024-03-09T08:19:50Z |
| format | Article |
| id | doaj.art-9f01639322e84d79a13e7247cfb5ba29 |
| institution | Directory Open Access Journal |
| issn | 2167-8359 |
| language | English |
| last_indexed | 2024-03-09T08:19:50Z |
| publishDate | 2017-12-01 |
| publisher | PeerJ Inc. |
| record_format | Article |
| series | PeerJ |
| spelling | doaj.art-9f01639322e84d79a13e7247cfb5ba292023-12-02T21:52:45ZengPeerJ Inc.PeerJ2167-83592017-12-015e414310.7717/peerj.4143Substitutions into amino acids that are pathogenic in human mitochondrial proteins are more frequent in lineages closely related to human than in distant lineagesGalya V. Klink0Andrey V. Golovin1Georgii A. Bazykin2Sector of Molecular Evolution, Institute for Information Transmission Problems (Kharkevich Institute) of the Russian Academy of Sciences, Moscow, Russian FederationFaculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russian FederationSector of Molecular Evolution, Institute for Information Transmission Problems (Kharkevich Institute) of the Russian Academy of Sciences, Moscow, Russian FederationPropensities 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 mitochondrial genes, and analyze their occurrence in non-human 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, substitutions giving rise to amino acids that correspond to alleles pathogenic in humans also more frequently occur in more closely related lineages. Therefore, a pathogenic variant still tends to be more acceptable in human mitochondria than a variant that may only be fit after a substantial perturbation of the protein structure.https://peerj.com/articles/4143.pdfFitness landscapePathogenic mutationsHomoplasyMitochondria |
| spellingShingle | Galya V. Klink Andrey V. Golovin Georgii A. Bazykin Substitutions into amino acids that are pathogenic in human mitochondrial proteins are more frequent in lineages closely related to human than in distant lineages PeerJ Fitness landscape Pathogenic mutations Homoplasy Mitochondria |
| title | Substitutions into amino acids that are pathogenic in human mitochondrial proteins are more frequent in lineages closely related to human than in distant lineages |
| title_full | Substitutions into amino acids that are pathogenic in human mitochondrial proteins are more frequent in lineages closely related to human than in distant lineages |
| title_fullStr | Substitutions into amino acids that are pathogenic in human mitochondrial proteins are more frequent in lineages closely related to human than in distant lineages |
| title_full_unstemmed | Substitutions into amino acids that are pathogenic in human mitochondrial proteins are more frequent in lineages closely related to human than in distant lineages |
| title_short | Substitutions into amino acids that are pathogenic in human mitochondrial proteins are more frequent in lineages closely related to human than in distant lineages |
| title_sort | substitutions into amino acids that are pathogenic in human mitochondrial proteins are more frequent in lineages closely related to human than in distant lineages |
| topic | Fitness landscape Pathogenic mutations Homoplasy Mitochondria |
| url | https://peerj.com/articles/4143.pdf |
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