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Details on Person OGG1 R46Q mutant, reported in renal carcinoma, and OGG1 R154...

Class:IdSummation:9657136
_displayNameOGG1 R46Q mutant, reported in renal carcinoma, and OGG1 R154...
_timestamp2019-10-21 19:50:53
created[InstanceEdit:9657135] Orlic-Milacic, Marija, 2019-08-07
literatureReference[LiteratureReference:9657125] Effect of single mutations in the OGG1 gene found in human tumors on the substrate specificity of the Ogg1 protein
[LiteratureReference:5635975] Structural basis for recognition and repair of the endogenous mutagen 8-oxoguanine in DNA
[LiteratureReference:9658807] Excision of oxidatively damaged DNA bases by the human alpha-hOgg1 protein and the polymorphic alpha-hOgg1(Ser326Cys) protein which is frequently found in human populations
[LiteratureReference:9658782] Differential ability of polymorphic OGG1 proteins to suppress mutagenesis induced by 8-hydroxyguanine in human cell in vivo
[LiteratureReference:9658804] hOGG1-Cys326 variant cells are hypersensitive to DNA repair inhibition by nitric oxide
[LiteratureReference:9658806] Repair of oxidative DNA damage is delayed in the Ser326Cys polymorphic variant of the base excision repair protein OGG1
modified[InstanceEdit:9657149] Orlic-Milacic, Marija, 2019-08-07
[InstanceEdit:9657154] Orlic-Milacic, Marija, 2019-08-08
[InstanceEdit:9658821] Orlic-Milacic, Marija, 2019-08-19
[InstanceEdit:9658847] Orlic-Milacic, Marija, 2019-08-21
[InstanceEdit:9663830] Orlic-Milacic, Marija, 2019-10-15
[InstanceEdit:9663886] Orlic-Milacic, Marija, 2019-10-16
[InstanceEdit:9663900] Orlic-Milacic, Marija, 2019-10-17
[InstanceEdit:9663901] Orlic-Milacic, Marija, 2019-10-17
[InstanceEdit:9664205] Orlic-Milacic, Marija, 2019-10-21
textOGG1 R46Q mutant, reported in renal carcinoma, and OGG1 R154H mutant, reported in stomach cancer cell line MKN4 (Bruner et al. 2000), show decreased excision of FapyG from dsDNA (Audebert, Radicella et al. 2000), with the function of OGG1 R154H being more severely impaired. It is uncertain whether binding to FapyG in dsDNA substrate is affected in OGG1 R46Q and OGG1 R154H.
OGG1 R46L has not been functionally studied but has been reported in cancer and predicted to be pathogenic. It is annotated as a candidate disease variant based on its similarity with OGG1 R46L.
OGG1 S326C is a frequent genetic polymorphism in people of European and Asian descent. OGG1 S326C variant is susceptible to oxidative modifications, leading to diminished catalytic activity (Yamane et al. 2004, Moritz et al. 2014) under conditions of oxidative stress (Kershaw and Hodges 2012). This may be due to decreased specificity of OGG1 S326C for FapyG (Dherin et al. 1999).
(summation)[FailedReaction:9656252] Defective OGG1 mutants do not excise FapyG [Homo sapiens]
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