ArticleBiology letters2009
Modelling mitochondrial site polymorphisms to infer the number of segregating units and mutation rate.
Article in Biology letters, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Allele frequency selection and no age-related increase in human oocyte mitochondrial mutations.Science advances · 2025Article
- Advanced age increases frequencies of de novo mitochondrial mutations in macaque oocytes and somatic tissues.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues.PLoS biology · 2020Article
- Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Varied Mechanisms and Models for the Varying Mitochondrial Bottleneck.Frontiers in cell and developmental biology · 2019Article
- Article
- Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- The strength and timing of the mitochondrial bottleneck in salmon suggests a conserved mechanism in vertebrates.PloS one · 2011Article
- Introduction. Putting the 'bio' into bioinformatics.Biology letters · 2009Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present a mathematical model of mitochondrial inheritance evolving under neutral evolution to interpret the heteroplasmies observed at some sites. A comparison of the levels of heteroplasmies transmitted from mother to her offspring allows us to estimate the number N(x) of inherited mitochondrial genomes (segregating units). The model demonstrates the necessity of accounting for both the multiplicity of an unknown number N(x), and the threshold , below which heteroplasmy cannot be detected reliably, in order to estimate the mitochondrial mutation rate mu(m) in the maternal line of descent. Our model is applicable to pedigree studies of any eukaryotic species where site heteroplasmies are observed in regions of the mitochondria, provided neutrality can be assumed. The model is illustrated with an analysis of site heteroplasmies in the first hypervariable region of mitochondrial sequence data sampled from Adélie penguin families, providing an estimate N(x) and mu(m). This estimate of mu(m) was found to be consistent with earlier estimates from ancient DNA analysis.
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