Reactome | Defective OGG1 mutants do not excise 8-oxoguanine

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Defective OGG1 mutants do not excise 8-oxoguanine Show undefined attributes

authored	[InstanceEdit:9656251] Orlic-Milacic, Marija, 2019-07-30
category	transition
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9656251] Orlic-Milacic, Marija, 2019-07-30
dbId	9656250
disease	[Disease:1500689] cancer [Disease:8863054] Alzheimer's disease
displayName	Defective OGG1 mutants do not excise 8-oxoguanine
edited	[InstanceEdit:9663704] Orlic-Milacic, Marija, 2019-10-10
entityFunctionalStatus	[EntityFunctionalStatus:9656302] loss_of_function of OGG1 mutants:(8oxoG:Cyt)-dsDNA [nucleoplasm]
eventOf	[Pathway:R-HSA-9656256] Defective OGG1 Substrate Processing - Homo sapiens
input	[Complex:R-HSA-9656301] OGG1 mutants:(8oxoG:Cyt)-dsDNA [nucleoplasm]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9656282] Identification and characterization of OGG1 mutations in patients with Alzheimer's disease [LiteratureReference:9657087] Leukemic cell line, KG-1 has a functional loss of hOGG1 enzyme due to a point mutation and 8-hydroxydeoxyguanosine can kill KG-1 [LiteratureReference:9657093] A novel R229Q OGG1 polymorphism results in a thermolabile enzyme that sensitizes KG-1 leukemia cells to DNA damaging agents [LiteratureReference:9657105] Radiation sensitivity depends on OGG1 activity status in human leukemia cell lines [LiteratureReference:9657114] Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney [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:9658759] Mutations in OGG1, a gene involved in the repair of oxidative DNA damage, are found in human lung and kidney tumours [LiteratureReference:9658493] The R46Q, R131Q and R154H polymorphs of human DNA glycosylase/beta-lyase hOgg1 severely distort the active site and DNA recognition site but do not cause unfolding [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 [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:9663845] Reciprocal "flipping" underlies substrate recognition and catalytic activation by the human 8-oxo-guanine DNA glycosylase [LiteratureReference:9663840] Structural and biochemical exploration of a critical amino acid in human 8-oxoguanine glycosylase [LiteratureReference:9663835] The critical active-site amine of the human 8-oxoguanine DNA glycosylase, hOgg1: direct identification, ablation and chemical reconstitution [LiteratureReference:9663842] The mechanism of the glycosylase reaction with hOGG1 base-excision repair enzyme: concerted effect of Lys249 and Asp268 during excision of 8-oxoguanine
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective OGG1 mutants do not excise 8-oxoguanine
normalReaction	[Reaction:R-HSA-110243] Excision of 8-oxoguanine by OGG1 glycosylase
releaseDate	2019-12-10
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9663702] Vlahopoulos, Spiros, 2019-10-02 [InstanceEdit:9663703] Boldogh, Istvan, 2019-10-08
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9656250
summation	[Summation:9656309] OGG1 missense mutants OGG1 R46Q (Audebert, Chevillard et al....

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[Pathway:R-HSA-9656256] Defective OGG1 Substrate Processing

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