title: High direct estimate of the mutation rate in the mitochondrial genome of Caenorhabditis elegans.
abstract: Mutations in the mitochondrial genome have been implicated in numerous human genetic disorders and offer important data for phylogenetic, forensic, and population genetic studies. Using a long-term series of Caenorhabditis elegans mutation accumulation lines, we performed a wide-scale screen for mutations in the mitochondrial genome that revealed a mutation rate that is two orders of magnitude higher than previous indirect estimates, a highly biased mutational spectrum, multiple mutations affecting coding function, as well as mutational hotspots at homopolymeric nucleotide stretches.
authors.affiliation: Division of Molecular Biology and Biochemistry, School of Biological Sciences, University of Missouri-Kansas City, Kansas City, MO 64110, USA.
authors.forename: D R
authors.initials: DR
authors.lastname: Denver
authors.forename: K
authors.initials: K
authors.lastname: Morris
authors.forename: M
authors.initials: M
authors.lastname: Lynch
authors.forename: L L
authors.initials: LL
authors.lastname: Vassilieva
authors.forename: W K
authors.initials: WK
authors.lastname: Thomas
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D001482:Base Composition; D020029:Base Pairing; D017173:Caenorhabditis elegans / Q000235:genetics*; D018509:DNA, Helminth / Q000737:chemistry / Q000235:genetics; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D019143:Evolution, Molecular; D016368:Frameshift Mutation; D016678:Genome; D008928:Mitochondria / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics; D010802:Phylogeny; D017354:Point Mutation; D012345:RNA, Transfer, Amino Acid-Specific / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid; D012641:Selection, Genetic; D017384:Sequence Deletion
chemical_list: D018509:DNA, Helminth; D004272:DNA, Mitochondrial; D012345:RNA, Transfer, Amino Acid-Specific; D009245:NADH Dehydrogenase