Polymerase DNA Directed Gamma 1 (POLg1)

PEO; POLG1; POLGA; SANDO; SCAE; Mitochondrial DNA polymerase catalytic subunit

SPN	R111
HGNC	9179
MGI	1196389
PubMed	19251978
RGD	620057
UniProt	P54098
Wiki	POLG

POLG (alias, POLG1 or POLGa) is the gene that codes for the catalytic subunit of the mitochondrial DNA polymerase, called DNA polymerase gamma. The human POLG cDNA and gene were originally cloned mapped to chromosome 15, 15,q25. In eukaryotic cells, the mitochondrial DNA is replicated by DNA polymerase gamma, a trimeric protein complex composed of a catalytic subunit of 140 kDa encoded by the POLG gene and a dimeric accessory subunit of 55 kDa encoded by the POLG2 gene. The catalytic subunit contains three enzymatic activities, a DNA polymerase activity, a 3’-5’ exonuclease activity that proofreads misincorporated nucleotides, and a 5’-dRP lyase activity required for base excision repair. The POLG gene is also a disease locus for several mitochondrial diseases.

Reference

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J. Biol. Chem. 283:3665-3675(2008) [PubMed] [Europe PMC] [Abstract]

"Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions."
Nat. Genet. 28:211-212(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia."
Ann. Neurol. 52:211-219(2002) [PubMed] [Europe PMC] [Abstract]

"Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis."
J. Biol. Chem. 277:15225-15228(2002) [PubMed] [Europe PMC] [Abstract]

"Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma."
Arch. Neurol. 60:1279-1284(2003) [PubMed] [Europe PMC] [Abstract]

"Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy."
Eur. J. Hum. Genet. 11:547-549(2003) [PubMed] [Europe PMC] [Abstract]

"Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle."
Hum. Mutat. 22:175-176(2003) [PubMed] [Europe PMC] [Abstract]

"POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions."
Hum. Mutat. 22:498-499(2003) [PubMed] [Europe PMC] [Abstract]

"Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)."
Neurology 60:1354-1356(2003) [PubMed] [Europe PMC] [Abstract]

"Patient homozygous for a recessive POLG mutation presents with features of MERRF."
Neurology 61:1811-1813(2003) [PubMed] [Europe PMC] [Abstract]

"Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia."
Neuromuscul. Disord. 13:133-142(2003) [PubMed] [Europe PMC] [Abstract]

"POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion."
Ann. Neurol. 55:706-712(2004) [PubMed] [Europe PMC] [Abstract]

"Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene."
Ann. Neurol. 56:454-455(2004) [PubMed] [Europe PMC] [Abstract]

"A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and parkinsonism."
Arch. Neurol. 61:1777-1779(2004) [PubMed] [Europe PMC] [Abstract]

"Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study."
Lancet 364:875-882(2004) [PubMed] [Europe PMC] [Abstract]

"POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness."
Neurology 62:316-318(2004) [PubMed] [Europe PMC] [Abstract]

"POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement."
Neurology 63:1251-1257(2004) [PubMed] [Europe PMC] [Abstract]

"Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin."
Am. J. Hum. Genet. 77:430-441(2005) [PubMed] [Europe PMC] [Abstract]

"POLG mutations and Alpers syndrome."
Ann. Neurol. 57:921-923(2005) [PubMed] [Europe PMC] [Abstract]

"Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA."
Brain 128:723-731(2005) [PubMed] [Europe PMC] [Abstract]

"Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome."
Hum. Mol. Genet. 14:1907-1920(2005) [PubMed] [Europe PMC] [Abstract]

"Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations."
Neurology 64:1204-1208(2005) [PubMed] [Europe PMC] [Abstract]

"Early-onset familial parkinsonism due to POLG mutations."
Ann. Neurol. 59:859-862(2006) [PubMed] [Europe PMC] [Abstract]

"Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population."
Arch. Neurol. 63:107-111(2006) [PubMed] [Europe PMC] [Abstract]

"Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene."
Brain 129:1674-1684(2006) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay."
Eur. J. Hum. Genet. 14:917-922(2006) [PubMed] [Europe PMC] [Abstract]

Erratum
Eur. J. Hum. Genet. 15:607-607(2006)

"SANDO: two novel mutations in POLG1 gene."
Neuromuscul. Disord. 16:507-509(2006) [PubMed] [Europe PMC] [Abstract]

"Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism."
Arch. Neurol. 64:553-557(2007) [PubMed] [Europe PMC] [Abstract]

"Novel Twinkle (PEO1) gene mutations in Mendelian progressive external ophthalmoplegia."
J. Neurol. 255:1384-1391(2008) [PubMed] [Europe PMC] [Abstract]

"Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion."
Hum. Mutat. 30:248-254(2009) [PubMed] [Europe PMC] [Abstract]

"Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations."
Neurology 72:1103-1105(2009) [PubMed] [Europe PMC] [Abstract]