Genetic polymorphisms and alternative splicing of the hOGG1 gene, that is involved in the repair of 8-hydroxyguanine in damaged DNA

Kohno, Takashi; Shinmura, Kazuya; Tosaka, Masahiko; Tani, Masachika; Kim, Su-Ryang; Sugimura, Haruhiko; Nohmi, Takehiko; Kasai, Hiroshi; Yokota, Jun

doi:10.1038/sj.onc.1201872

Cited by 386 publications

(318 citation statements)

References 24 publications

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“…23 However, it remains unclear whether the codon 326 polymorphism influences hOGG1 enzyme activity. Kohno et al 37 showed that the hOGG1 326Ser protein had substantially higher DNA repair activity than the 326Cys variant in an in vitro bacterial complementation activity assay. However, another detailed biochemical study showed that both the purified hOGG1 326Ser and hOGG1 326Cys proteins did not differ appreciably in their enzymatic activities or in their capacity to reduce the frequency of induced mutations in an E. coli strain defective in the repair of 8-OH-G. 38 Similarly, Janssen et al 39 also evaluated OGG1 activity in an 8-oxoG oligonucleotide assay and showed no difference in enzyme activity due to the codon 326 polymorphism.…”

Section: Discussionmentioning

confidence: 99%

“…In contrast, 3 studies have not demonstrated a significant association between the hOGG1 codon 326 polymorphism and lung cancer risk. 28,29,37 However, only one of these studies (Kohno et al 37 ) was adequately powered to identify an effect among Cys/Cys (n ϭ 38) homozygotes. In a recent review of DNA repair gene polymorphisms in human cancer, the hOGG1 codon 326 polymorphism was 1 of 3 gene polymorphisms associated with an effect on human cancer risk.…”

Section: Discussionmentioning

confidence: 99%

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hOGG1 Ser326Cys polymorphism and G:C‐to‐T:A mutations: No evidence for a role in tobacco‐related non small cell lung cancer

Ying

Ahrendt

2004

Intl Journal of Cancer

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Human 8-oxoguanine DNA glycosylase 1 (hOGG1) plays a major role in the repair of 8-hydroxyguanine, one of the major forms of DNA damage generated by reactive oxygen species in tobacco smoke. If left unrepaired by hOGG1, 8-hydroxyguanine can produce G:C-to-T:A transversions. Recent studies have suggested that the hOGG1 Ser326Cys polymorphism is associated with both a decrease in enzyme activity and an increased risk of lung cancer. To define the interaction between tobacco carcinogens, hOGG1-mediated DNA repair and DNA damage, we examined the role of the hOGG1 Ser326Cys polymorphism in mutation of the p53 gene in non small cell lung cancer (NSCLC). Tumor and nonneoplastic DNA were collected from 141 cigarette smokers with NSCLC. Key words: lung cancer; hOGG1 polymorphism; p53 mutation; oxidative damage; epidemiology Tobacco use is the leading cause of preventable death in the United States. 1 One in 5 deaths and over 30% of cancer-related mortality are associated with tobacco use in this country. 1 Lung cancer is the leading cause of death among smokers and the most common cause of cancer-related death among both males and females in the United States and other developed countries. 2 In 2003, an estimated 171,900 new cases of primary lung cancer were diagnosed and an estimated 157,200 people died of this malignancy in the United States. 3 Epidemiologic studies have demonstrated that most cases of lung cancer are directly attributable to cigarette smoking. 2 Only 5-10% of all of the lung cancers occur in patients without a prior history of cigarette smoking. 2,4 Compared with nonsmokers, smokers have a 10-fold greater risk of dying from lung cancer, and in heavy smokers this risk increases to 15-to 25-fold. 5 Despite the strong association between cigarette smoking and lung cancer, only 11% of lifelong smokers will develop lung cancer. 6 Obviously, other factors must play a role in determining individual susceptibility to tobacco carcinogens.Individual susceptibility to exogenous exposures such as tobacco smoke varies with the presence of single nucleotide polymorphisms in a variety of critical genes. 7 Low penetrance susceptibility genes have common variants and often interact with environmental factors leading to sporadic cancer and contributing substantially to the population incidence of cancer. 8 -10 Polymorphisms in some of the genes involved in the metabolic activation [cytochrome P4501A1 (CYP1A1)] and detoxification [glutathione S-transferase M1 (GSTM1)] of tobacco carcinogens as well as in the repair of DNA damage (XRCC1, XPD, p53) have been associated with an increased risk of lung cancer. [11][12][13][14] Tobacco smoke is a complex mixture of over 55 carcinogens. 15 Cigarette smoking and specific tobacco carcinogens are associated with an increase in gene mutations in the lung, including those induced from oxidative damage. 4,16 -19 Repair of these DNA lesions is a complex process with specific types of DNA damage undergoing repair by specific multienzyme pathways. 9 Base excision repair (BER) is impo...

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

hOGG1 Ser326Cys polymorphism and G:C‐to‐T:A mutations: No evidence for a role in tobacco‐related non small cell lung cancer

Ying

Ahrendt

2004

Intl Journal of Cancer

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“…Among the 65 papers identified through this process, 7 were considered eligible. 5,[7][8][9][10][11]17 Two investigators (TO and KM) abstracted the data independently. We used OR from a random-effect model as a summary statistic for association.…”

Section: Meta-analysismentioning

confidence: 99%

“…4 Genetic polymorphisms of hOGG1 have been documented, and the polymorphism Ser326Cys (rs1052133) is associated with complementation activity for Escherichia coli mutants that are defective in the repair of 8-hydroxyguanine. Activity in the repair of 8-hydroxyguanine is greater with the hOGG1-Ser326 protein than the hOGG1-Cys326 protein, 5 and the possible contribution of this locus to the risk of a variety of human cancers has been reported. 6 A number of studies [7][8][9][10][11][12][13][14] and systematic approaches [15][16][17] have examined the role of the Ser326Cys polymorphism in lung cancer susceptibility.…”

Section: Introductionmentioning

confidence: 99%

hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type

et al. 2009

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Human 8-oxoguanine DNA glycosylase 1 (hOGG1) has a major role in the repair of 8-hydroxyguanine, a major promutagenic DNA lesion. The genetic polymorphism rs1052133, which leads to substitution of the amino acid at codon 326 from Ser to Cys, shows functional differences, namely a decrease in enzyme activity in hOGG1-Cys326. Although several studies have investigated the association between rs1052133 and lung cancer susceptibility, the effect of this locus on lung cancer according to histology remains unclear. We therefore conducted a case-control study with 515 incident lung cancer cases and 1030 age-and sex-matched controls without cancer, and further conducted a meta-analysis. In overall analysis, the homozygous Cys/Cys genotype showed a significant association with lung cancer compared to Ser allele carrier status (odds ratio (OR)¼1.31, 95% confidence interval (CI)¼1.02-1.69). By histology-based analysis, the Cys/Cys genotype showed a significantly positive association with small-cell carcinoma (OR¼2.40, 95% CI¼1.32-4.49) and marginally significant association with adenocarcinoma (OR¼1.32, 95% CI¼0.98-1.77). A meta-analysis of previous and our present study revealed that this polymorphism is positively associated with adenocarcinoma, although suggestive associations were also found for squamousand small-cell lung cancers. These results indicate that rs1052133 contributes to the risk of adenocarcinoma of lung.

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“…Mutation screening of the full seven exons of TGF-bRII gene was also performed by PCR-SSCP analysis (Lu et al, 1996). For mutational analysis of hOGG1 gene, PCR primer pairs and conditions were described previously (Kohno et al, 1998).…”

Section: Cell Culturementioning

confidence: 99%

Establishment and characterisation of six human biliary tract cancer cell lines

et al. 2002

Br J Cancer

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Human cell lines established from biliary tract cancers are rare, and only five have been reported previously. We report the characterisation of six new six biliary tract cancer cell lines (designated SNU-245, SNU-308, SNU-478, SNU-869, SNU-1079 and SNU-1196) established from primary tumour samples of Korean patients. The cell lines were isolated from two extrahepatic bile duct cancers (one adenocarcinoma of common bile duct, one hilar bile duct cancer), two adenocarcinomas of ampulla of Vater, one intrahepatic bile duct cancer (cholangiocarcinoma), and one adenocarcinoma of the gall bladder. The cell phenotypes, including the histopathology of the primary tumours and in vitro growth characteristics, were determined. We also performed molecular characterisation, including DNA fingerprinting analysis and abnormalities of K-ras, p15, p16, p53, hMLH1, hMSH2, DPC4, b-catenin, E-cadherin, hOGG1, STK11, and TGF-bRII genes by PCR -SSCP and sequencing analysis. In addition, we compared the genetic alterations in tumour cell lines and their corresponding tumour tissues. All lines grew as adherent cells. Population doubling times varied from 48 -72 h. The culture success rate was 20% (six out of 30 attempts). All cell lines showed (i) relatively high viability; (ii) absence of mycoplasma or bacteria contamination; and (iii) genetic heterogeneity by DNA fingerprinting analysis. Among the lines, three lines had p53 mutations; and homozygous deletions in both p16 and p15 genes were found three and three lines, respectively; one line had a heterozygous missense mutation in hMLH1; E-cadherin gene was hypermethylated in two lines. Since the establishment of biliary tract cancer cell lines has been rarely reported in the literature, these newly established and well characterised biliary tract cancer cell lines would be very useful for studying the biology of biliary tract cancers, particularly those related to hypermethylation of E-cadherin gene in biliary tract cancer.

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Genetic polymorphisms and alternative splicing of the hOGG1 gene, that is involved in the repair of 8-hydroxyguanine in damaged DNA

Cited by 386 publications

References 24 publications

hOGG1 Ser326Cys polymorphism and G:C‐to‐T:A mutations: No evidence for a role in tobacco‐related non small cell lung cancer

hOGG1 Ser326Cys polymorphism and G:C‐to‐T:A mutations: No evidence for a role in tobacco‐related non small cell lung cancer

hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type

Establishment and characterisation of six human biliary tract cancer cell lines

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