DISEASE MUTATIONS IN THE HUMAN MITOCHONDRIAL DNA POLYMERASE THUMB SUBDOMAIN IMPART SEVERE DEFECTS IN MtDNA REPLICATION
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چکیده
DISEASE MUTATIONS IN THE HUMAN MITOCHONDRIAL DNA POLYMERASE THUMB SUBDOMAIN IMPART SEVERE DEFECTS IN MtDNA REPLICATION Rajesh Kasiviswanathan, Matthew J. Longley, Sherine S. L. Chan, and William C. Copeland* From the Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709 Running Title: Mitochondrial disease mutations in POLG thumb subdomain Address correspondence to: William C. Copeland, Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, 111 T. W. Alexander Drive, Building 101, Rm E316, Research Triangle Park, NC 27709, Tel. 919 541-4792; Fax. 919 541-7593; Email: [email protected]
منابع مشابه
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.
DNA polymerase gamma (pol gamma) is responsible for replication and repair of mitochondrial DNA (mtDNA). Over 150 mutations in POLG (which encodes pol gamma) have been discovered in patients with mitochondrial disorders including Alpers, progressive external ophthalmoplegia and ataxia-neuropathy syndrome. However, the severity and dominance of many POLG disease-associated mutations are unclear,...
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