ArticleGenome research2006
Mutation hot spots in mammalian mitochondrial DNA.
Article in Genome research, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 135 citations in OpenAlex.
- Variations in mitochondrial genome as potential prognostic markers in sickle cell disease.Haematologica · 2026Article
- Population Genetics of the Greater Grison (Animals : an open access journal from MDPI · 2026Article
- Variant load of mitochondrial DNA in single human mesenchymal stem cells.Scientific reports · 2024Article
- Genetic analysis ofEcology and evolution · 2024Article
- MOTS-c, the Most Recent Mitochondrial Derived Peptide in Human Aging and Age-Related Diseases.International journal of molecular sciences · 2022Review
- Comparative mitogenome phylogeography of two anteater genera (Zoological research · 2021Article
- Novel Insights Into the Role of Mitochondria-Derived Peptides in Myocardial Infarction.Frontiers in physiology · 2021Review
- Review
- Sex-biased patterns shaped the genetic history of Roma.Scientific reports · 2020Article
- Mitochondrial DNA Diversity in Large White Pigs in Russia.Animals : an open access journal from MDPI · 2020Article
- Big data analysis of human mitochondrial DNA substitution models: a regression approach.BMC genomics · 2018Article
- Mitochondrial introgression and interspecies recombination in theIMA fungus · 2018Article
- Influence of Electron-Holes on DNA Sequence-Specific Mutation Rates.Genome biology and evolution · 2018Article
- Article
- The Landscape of mtDNA Modifications in Cancer: A Tale of Two Cities.Frontiers in oncology · 2017Review
- MOTS-c: A novel mitochondrial-derived peptide regulating muscle and fat metabolism.Free radical biology & medicine · 2016Review
- Shotgun Mitogenomics Provides a Reference Phylogenetic Framework and Timescale for Living Xenarthrans.Molecular biology and evolution · 2016Article
- Insertions/Deletions-Associated Nucleotide Polymorphism inFrontiers in plant science · 2016Article
- Automatic selection of partitioning schemes for phylogenetic analyses using iterative k-means clustering of site rates.BMC evolutionary biology · 2015Article
- Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Animal mitochondrial DNA is characterized by a remarkably high level of within-species homoplasy, that is, phylogenetic incongruence between sites of the molecule. Several investigators have invoked recombination to explain it, challenging the dogma of maternal, clonal mitochondrial inheritance in animals. Alternatively, a high level of homoplasy could be explained by the existence of mutation hot spots. By using an exhaustive mammalian data set, we test the hot spot hypothesis by comparing patterns of site-specific polymorphism and divergence in several groups of closely related species, including hominids. We detect significant co-occurrence of synonymous polymorphisms among closely related species in various mammalian groups, and a correlation between the site-specific levels of variability within humans (on one hand) and between Hominoidea species (on the other hand), indicating that mutation hot spots actually exist in mammalian mitochondrial coding regions. The whole data, however, cannot be explained by a simple mutation hot spots model. Rather, we show that the site-specific mutation rate quickly varies in time, so that the same sites are not hypermutable in distinct lineages. This study provides a plausible mutation model that potentially accounts for the peculiar distribution of mitochondrial sequence variation in mammals without the need for invoking recombination. It also gives hints about the proximal causes of mitochondrial site-specific hypermutability in humans.
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