Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease - PubMed (original) (raw)
Review
doi: 10.1038/nrg2396.
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- PMID: 18695671
- DOI: 10.1038/nrg2396
Review
Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease
James Bruce Stewart et al. Nat Rev Genet. 2008 Sep.
Abstract
Mutations of mitochondrial DNA (mtDNA) are frequent in humans and are implicated in many different types of pathology. The high substitution rate and the maternal, asexual mode of transmission of mtDNA make it more likely to accumulate deleterious mutations. Here, we discuss recent evidence that mtDNA transmission is subject to strong purifying selection in the mammalian female germ line, limiting the accumulation of such mutations. This process shapes mitochondrial sequence diversity and is therefore probably of fundamental importance for animal evolution and in human mitochondrial disease.
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