| http://purl.uniprot.org/citations/16685652 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16685652 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16685652 | http://www.w3.org/2000/01/rdf-schema#comment | "DNA polymerase gamma (pol gamma ) is required to maintain the genetic integrity of the 16,569-bp human mitochondrial genome (mtDNA). Mutation of the nuclear gene for the catalytic subunit of pol gamma (POLG) has been linked to a wide range of mitochondrial diseases involving mutation, deletion, and depletion of mtDNA. We describe a heterozygous dominant mutation (c.1352G-->A/p.G451E) in POLG2, the gene encoding the p55 accessory subunit of pol gamma , that causes progressive external ophthalmoplegia with multiple mtDNA deletions and cytochrome c oxidase (COX)-deficient muscle fibers. Biochemical characterization of purified, recombinant G451E-substituted p55 protein in vitro revealed incomplete stimulation of the catalytic subunit due to compromised subunit interaction. Although G451E p55 retains a wild-type ability to bind DNA, it fails to enhance the DNA-binding strength of the p140-p55 complex. In vivo, the disease most likely arises through haplotype insufficiency or heterodimerization of the mutated and wild-type proteins, which promote mtDNA deletions by stalling the DNA replication fork. The progressive accumulation of mtDNA deletions causes COX deficiency in muscle fibers and results in the clinical phenotype."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.org/dc/terms/identifier | "doi:10.1086/504303"xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.org/dc/terms/identifier | "doi:10.1086/504303"xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Clark S."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Clark S."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Hudson G."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Hudson G."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Taylor R.W."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Taylor R.W."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Nightingale S."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Nightingale S."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Chinnery P.F."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Chinnery P.F."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Turnbull D.M."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Turnbull D.M."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Copeland W.C."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Copeland W.C."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Longley M.J."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Longley M.J."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Durham S.E."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Durham S.E."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Man C.Y.W."xsd:string |
| http://purl.uniprot.org/citations/16685652 | http://purl.uniprot.org/core/author | "Man C.Y.W."xsd:string |