Recombinant Human DNA polymerase subunit gamma-1 (POLG), partial

1. The POLG1 mutations may either cause mtDNA depletion or multiple mtDNA deletions. PMID: 28905223
2. ). Based on the current genetic data, both RECQL p.I156M and POLG p.L392V represent novel breast cancer predisposing alleles. PMID: 29341116
3. POLG missense variants cause neuromyopathy with congenital cataracts and glaucoma. PMID: 29358615
4. The POLG1 CAG repeat length variation and the GBA p.L444P variant are associated with Parkinson's disease in the Finnish population PMID: 29029963
5. Two tag SNPs of TFAM and POLG were associated with multibacillary leprosy in Han Chinese from Southwest China. PMID: 28958595
6. POLG phenotypes and natural history of early-onset POLG-related disorders in a large multinational pediatric cohort PMID: 28471437
7. Together with mitochondrial dysfunction in bipolar disorder, the present results suggested deleterious POLG1 variants as a credible risk for the multifactorial disease. PMID: 27987238
8. This study suggests that, at variance with mouse and un/de-differentiated human cells, differentiated human cells control mtDNA levels irrespective of POLG methylation. PMID: 28069933
9. One patient presented with Leigh syndrome and had a homozygous deletion in the NDUFAF2 gene, while the second patient had a homozygous mutation in the POLG gene, [c.1399G>A; p.Ala467Thr]. PMID: 27344355
10. The p.Y955C and p.Y955H mutations cause related, but distinct molecular phenotypes. POLgammaA:Y955H is unable to synthesize DNA, POLgammaA:Y955C has strongly impaired DNA synthesis activity.POLgammaA:Y955C has a stronger affinity for primed DNA templates. the molecular differences are subtle, they do lead to fundamentally different clinical presentations. PMID: 28430993
11. The rs758130 in POLG gene was significantly associated with the prognosis of patients in a dose-dependent manner. Moreover, GG genotype in rs1061316 showed significantly high mtDNA content, an indicator of better prognosis. PMID: 28457473
12. Pol G composes the mtDNA replication machinery, this replication machinery and failure to repair these mtDNA errors results in mtDNA mutations and as a result mitochondrial dysfunction - a major driving force behind aging and age-related diseases. PMID: 27143693
13. POLG mutations are associated with progressive external ophthalmoplegia. PMID: 28154168
14. tudies on the impact of mitochondrial DNA variants present conflicting data but highlight POLG as a particularly interesting candidate gene for both male and female infertility. PMID: 27748512
15. This review presented that the patient with epilepsy due to homozygous pathogenic variants located in the linker region of POLG were associated with later age of onset and longer survival compared to compound heterozygous variants. PMID: 27554452
16. MGME1 processes flaps into ligatable nicks in concert with DNA polymerase gamma during mtDNA replication. PMID: 27220468
17. Study further demonstrated the broad POLG-related spectrum and led to the identification of Sensory Ataxic Neuropathy with Ophthalmoparesis but without dysarthria (SANO), a new yet common phenotype of this spectrum characterized by the lack of cerebellar signs and by a less severe prognosis than in Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis (SANDO) and Spino Cerebellar Ataxia with Epilepsy (SCAE) PMID: 27538604
18. molecular dynamics simulations of the human Pol gamma replicative complex PMID: 28206745
19. Overall, POLG interactome mapping identifies novel proteins which support mitochondrial biogenesis and a potential novel mitochondrial isoform of Ruvbl2. PMID: 27845271
20. lymphocytes with POLG mutations are more sensitive than control cells to oxidative stress-induced apoptosis. PMID: 27538665
21. study increases the range of clinical presentations associated with mutations in POLG gene, underlining some peculiar clinical features, such as progressive external ophtalmoplegia associated with corneal edema, and epilepsy, severe neuropathy with achalasia PMID: 28130605
22. Demonstrated no apparent association between POLG-CAG-repeats and male infertility. Similarly, CAG-repeat was not a sensitive site to male infertility. Meta-analysis. PMID: 26790834
23. This study describe the epilepsy syndrome in seven patients with POLG mutations. PMID: 26104464
24. CAG repeat polymorphism in the mitochondrial DNA polymerase gamma gene (POLG) does not appear to be associated with colorectal cancer PMID: 26317126
25. The variable and overlapping clinical and neuropathological phenotypes and downstream molecular defects caused by the A467T mutation. PMID: 26735972
26. altered genetic and epigenetic regulation of POLG1 in human cancers and suggest a role for POLG1 germline variants in promoting tumorigenic properties. PMID: 26468652
27. Herein we report a patient with a POLG gene W748S homozygous mutation and characteristic lesions in the thalamus, cerebellum and inferior olivary nucleus seen on magnetic resonance imaging. PMID: 26755490
28. POLG's 3'-5' exonuclease proofreading activity is required for the creation of ligatable ends during mtDNA replication. PMID: 26095671
29. The stimulatory effect of mtSSB on Pol gamma on these ssDNA templates is not species-specific. PMID: 26446790
30. Computational analysis of the PolG protein suggests that the p.K601E mutation is likely the most significant contributing factor to a pathogenic phenotype in an adult mitochondrial ataxia. PMID: 25488682
31. Data suggest that methylation of mitochondrial DNA in exon 2 of POLGA is instrumental in regulation of DNA replication in pluripotent stem cells, in embryonic development, and in tumorigenesis. [REVIEW] PMID: 26335356
32. Family case study and literature review of the complexity of genotype-phenotype correlations of POLG1 gene PMID: 25660390
33. mutations associated with acute valproate-induced liver failure PMID: 25065347
34. Multiple deletions of mitochondrial DNA were detected along with a novel mutation in POLG1 in patients with Parkinsonism, cognitive deficit and behavioral disturbance. PMID: 25724872
35. The results of this study provided evidence for a significantly lower of mtDNA copy number in PD patients and POLG1 variation for reducing mtDNA copy number in Parkinson dseases. PMID: 25585994
36. case report of an unusual encephalopathy caused by POLG mutation PMID: 25210026
37. Familial analysis indicated causal relationship of POLG variants with mitochondrial disease, consistent with autosomal recessive inheritance. PMID: 26077851
38. Crystal structure of POLG1 in complex with mitochondrial DNA PMID: 26056153
39. Phenotypes associated with POLG mutations follow a reproducible pattern, which allows establishing a diagnostic flow chart PMID: 25118206
40. A POLG gene mutation was identified in a case of hypertrophic olivary degeneration. PMID: 25713120
41. systemic mutational analysis in both sisters revealed a heterozygous p.Y955C (c.2864A>G) mutation in POLG1 PMID: 24943079
42. These data provide no evidence to suggest CAG repeat length in POLG1 affects Parkinson's disease susceptibility. PMID: 24491464
43. Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function. PMID: 24524965
44. We confirm that large deletions in the POLG gene are rare events, we highlight the importance of quantitative multiplex PCR of short fluorescent fragments in patients with a single heterozygous POLG mutation, particularly in severe infantile phenotypes. PMID: 23921535
45. study established genotype-phenotype correlations for complete spectrum of POLG syndromes by refining mapping of pathogenic mutations in the POLG gene to functional clusters in the catalytic core of the mitochondrial replicase, Pol gamma PMID: 24508722
46. POLG mutations appear to compromise neuronal respiration via a combination of early and stable depletion and a progressive somatic mutagenesis of the mitochondrial genome. PMID: 24841123
47. Our findings provide two lines of evidence suggesting a role for POLG1 mutations in Parkinson's disease PMID: 24122062
48. The present study confirmed no association between the POLG gene polymorphism and male infertility. PMID: 23912752
49. content, and depolarized mitochondrial membranes. The severity of the Pol-gamma mutant phenotype in heterozygous diploid humanized yeast correlates with the approximate age of disease onset and the severity of symptoms observed in humans. PMID: 24398692
50. findings suggest that monogenic POLG mutations are not a common pathogenic determinant of severe stavudine-associated mitochondrial toxicity in Malawians PMID: 23962909

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HGNC: 9179

OMIM: 157640

KEGG: hsa:5428

STRING: 9606.ENSP00000268124

UniGene: Hs.706868