title: Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease.
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.
authors.affiliation: Department of Laboratory Medicine, Division of Metabolic Diseases, Karolinska Institutet, Stockholm, Sweden.
authors.forename: James Bruce
authors.initials: JB
authors.lastname: Stewart
authors.forename: Christoph
authors.initials: C
authors.lastname: Freyer
authors.forename: Joanna L
authors.initials: JL
authors.lastname: Elson
authors.forename: Nils-Göran
authors.initials: NG
authors.lastname: Larsson
mesh_terms: D000818:Animals; D056915:DNA Copy Number Variations; D004272:DNA, Mitochondrial / Q000235:genetics*; D019143:Evolution, Molecular; D005260:Female; D054629:Genome, Mitochondrial; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics*; D012641:Selection, Genetic
chemical_list: D004272:DNA, Mitochondrial