Journal
SCIENCE
Volume 319, Issue 5865, Pages 958-962Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1147786
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Funding
- NIA NIH HHS [AG13154, AG24373, AG16573] Funding Source: Medline
- NICHD NIH HHS [U01 HD045913-04, U01 HD045913-01, U01 HD045913-03, U01 HD045913-02, HD45913] Funding Source: Medline
- NIDDK NIH HHS [DK73691] Funding Source: Medline
- NINDS NIH HHS [NS21328] Funding Source: Medline
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The majority of mitochondrial DNA ( mtDNA) mutations that cause human disease are mild to moderately deleterious, yet many random mtDNA mutations would be expected to be severe. To determine the fate of the more severe mtDNA mutations, we introduced mtDNAs containing two mutations that affect oxidative phosphorylation into the female mouse germ line. The severe ND6 mutation was selectively eliminated during oogenesis within four generations, whereas the milder COI mutation was retained throughout multiple generations even though the offspring consistently developed mitochondrial myopathy and cardiomyopathy. Thus, severe mtDNA mutations appear to be selectively eliminated from the female germ line, thereby minimizing their impact on population fitness.
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