POLG

From Wikipedia, the free encyclopedia

Polymerase (DNA directed), gamma

Identifiers

POLG; FLJ27114; PEO; POLG1; POLGA; SANDO; SCAE

External IDs

OMIM: 174763 MGI: 1196389 HomoloGene: 2016

Gene ontology
Molecular Function:	• magnesium ion binding • DNA binding • delta DNA polymerase activity • gamma DNA-directed DNA polymerase activity • exonuclease activity • protein binding • transferase activity
Cellular Component:	• mitochondrion • mitochondrial inner membrane • gamma DNA polymerase complex
Biological Process:	• mitochondrial DNA replication • base-excision repair, gap-filling • aging

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002693 (mRNA)
NP_002684 (protein)

NM_017462 (mRNA)
NP_059490 (protein)

Location

Chr 15: 87.66 - 87.68 Mb

Chr 7: 79.32 - 79.34 Mb

Pubmed search

[1]

[2]

Polymerase (DNA directed), gamma, also known as POLG, is a human gene.

[edit] Further reading

Graziewicz MA, Longley MJ, Copeland WC (2006). "DNA polymerase gamma in mitochondrial DNA replication and repair.". Chem. Rev. 106 (2): 383-405. doi:10.1021/cr040463d. PMID 16464011.
Hudson G, Chinnery PF (2006). "Mitochondrial DNA polymerase-gamma and human disease.". Hum. Mol. Genet. 15 Spec No 2: R244-52. doi:10.1093/hmg/ddl233. PMID 16987890.
Lestienne P (1987). "Evidence for a direct role of the DNA polymerase gamma in the replication of the human mitochondrial DNA in vitro.". Biochem. Biophys. Res. Commun. 146 (3): 1146-53. PMID 3619920.
Ropp PA, Copeland WC (1997). "Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma.". Genomics 36 (3): 449-58. doi:10.1006/geno.1996.0490. PMID 8884268.
Lecrenier N, Van Der Bruggen P, Foury F (1997). "Mitochondrial DNA polymerases from yeast to man: a new family of polymerases.". Gene 185 (1): 147-52. PMID 9034326.
Walker RL, Anziano P, Meltzer PS (1997). "A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25.". Genomics 40 (2): 376-8. doi:10.1006/geno.1996.4580. PMID 9119411.
Zullo SJ, Butler L, Zahorchak RJ, et al. (1998). "Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-->q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs).". Cytogenet. Cell Genet. 78 (3-4): 281-4. PMID 9465903.
Kapsa RM, Quigley AF, Han TF, et al. (1998). "mtDNA replicative potential remains constant during ageing: polymerase gamma activity does not correlate with age related cytochrome oxidase activity decline in platelets.". Nucleic Acids Res. 26 (19): 4365-73. PMID 9742236.
Spelbrink JN, Toivonen JM, Hakkaart GA, et al. (2000). "In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells.". J. Biol. Chem. 275 (32): 24818-28. doi:10.1074/jbc.M000559200. PMID 10827171.
Van Goethem G, Dermaut B, Löfgren A, et al. (2001). "Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.". Nat. Genet. 28 (3): 211-2. doi:10.1038/90034. PMID 11431686.
Hirano M, DiMauro S (2003). "ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia.". Neurology 57 (12): 2163-5. PMID 11756592.
Ponamarev MV, Longley MJ, Nguyen D, et al. (2002). "Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.". J. Biol. Chem. 277 (18): 15225-8. doi:10.1074/jbc.C200100200. PMID 11897778.
Nitanai Y, Satow Y, Adachi H, Tsujimoto M (2002). "Crystal structure of human renal dipeptidase involved in beta-lactam hydrolysis.". J. Mol. Biol. 321 (2): 177-84. PMID 12144777.
Lamantea E, Tiranti V, Bordoni A, et al. (2002). "Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.". Ann. Neurol. 52 (2): 211-9. doi:10.1002/ana.10278. PMID 12210792.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Van Goethem G, Martin JJ, Dermaut B, et al. (2003). "Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.". Neuromuscul. Disord. 13 (2): 133-42. PMID 12565911.
Jazayeri M, Andreyev A, Will Y, et al. (2003). "Inducible expression of a dominant negative DNA polymerase-gamma depletes mitochondrial DNA and produces a rho0 phenotype.". J. Biol. Chem. 278 (11): 9823-30. PMID 12645575.
Garrido N, Griparic L, Jokitalo E, et al. (2003). "Composition and dynamics of human mitochondrial nucleoids.". Mol. Biol. Cell 14 (4): 1583-96. doi:10.1091/mbc.E02-07-0399. PMID 12686611.
Agostino A, Valletta L, Chinnery PF, et al. (2004). "Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).". Neurology 60 (8): 1354-6. PMID 12707443.
Van Goethem G, Schwartz M, Löfgren A, et al. (2004). "Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.". Eur. J. Hum. Genet. 11 (7): 547-9. doi:10.1038/sj.ejhg.5201002. PMID 12825077.