OGG1 S326C is oxidized

Stable Identifier
Reaction [transition]
Homo sapiens
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OGG1 S326C is a frequent genetic polymorphism, present in more than 20% of people of European and Asian descent (Janssen et al. 2001, Moritz et al. 2014). On its own, substitution of serine with cysteine at position 326 does not affect the catalytic activity of OGG1 (Dherin et al. 1999, Janssen et al. 2001, Moritz et al. 2014). However, under oxidative stress, OGG1 S326C variant is more susceptible to oxidation or nitrosation than the wild type enzyme (Moritz et al. 2014), which diminishes catalytic activity and leads to accumulation of genomic 8-oxoguanine (8oxoG) (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 8oxoG and FapyG (Dherin et al. 1999).
The frequency of OGG1 S326C allele is increased in NSCLC patients and the level of 8-oxodG is higher in lung tissue and leukocytes of these patients (Janik et al. 2011). OGG1 S326C variant is associated with an increased breast cancer risk (Ali et al. 2015).
Literature References
PubMed ID Title Journal Year
26089588 OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data

Ali, K, Kayani, MA, Mehmood, H, Mahjabeen, I, Sabir, M

Dis. Markers 2015
21376741 8-Oxoguanine incision activity is impaired in lung tissues of NSCLC patients with the polymorphism of OGG1 and XRCC1 genes

Tudek, B, CieĊ›la, JM, Speina, E, Janik, J, Gackowski, D, Swoboda, M, Janowska, B, Olinski, R, Kowalewski, J

Mutat. Res. 2011
24632493 hOGG1-Cys326 variant cells are hypersensitive to DNA repair inhibition by nitric oxide

Radicella, JP, Hall, J, Pauly, K, Epe, B, Bravard, A, Moritz, E

Carcinogenesis 2014
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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