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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Substitution
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Animals
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Base Composition
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Base Pairing
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Caenorhabditis elegans / genetics*
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DNA, Helminth / chemistry
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DNA, Helminth / genetics
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DNA, Mitochondrial / chemistry
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DNA, Mitochondrial / genetics*
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Evolution, Molecular
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Frameshift Mutation
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Genome*
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Mitochondria / genetics*
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Mutagenesis, Insertional
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Mutation*
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NADH Dehydrogenase / genetics
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Phylogeny
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Point Mutation
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RNA, Transfer, Amino Acid-Specific / genetics
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Repetitive Sequences, Nucleic Acid
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Selection, Genetic
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Sequence Deletion
Substances
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DNA, Helminth
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DNA, Mitochondrial
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RNA, Transfer, Amino Acid-Specific
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NADH Dehydrogenase