Journal
SCIENCE
Volume 289, Issue 5488, Pages 2342-2344Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.289.5488.2342
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- NIGMS NIH HHS [R01-GM36827] Funding Source: Medline
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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 welt as mutational hotspots at homopolymeric nucleotide stretches.
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