Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene.

Flejter, Wendy L.; McDaniel, Lisa D.; Johns, David C.; Friedberg, Errol C.; Schultz, Roger A.

doi:10.1073/pnas.89.1.261

Cited by 137 publications

(66 citation statements)

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“…16 XPD is involved in the nucleotide excision repair (NER) pathway, which recognizes and repairs a wide range of structurally unrelated lesions such as bulky adducts and thymidine dimers. 17,18 XPD functions as an ATP-dependent 5Ј-3Ј helicase joint to the basal transcription factor IIH complex. 19 Two of the polymorphisms analyzed, XRCC3-T241M and XRCC1-R399Q, are non-conservative amino acid changes.…”

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confidence: 99%

DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study

et al. 2001

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Individuals differ widely in their ability to repair DNA damage, and DNA-repair deficiency may be involved in modulating cancer risk. In a case-control study of 124 bladder-cancer patients and 85 hospital controls (urological and non-urological), 3 DNA polymorphisms localized in 3 genes of different repair pathways (XRCC1-Arg399Gln, exon 10; XRCC3-Thr241Met, exon 7; XPD-Lys751Gln, exon 23) have been analyzed. Results were correlated with DNA damage measured as 32 P-post-labeling bulky DNA adducts in white blood cells from peripheral blood. Genotyping was performed by PCR-RFLP analysis, and allele frequencies in cases/controls were as follows: XRCC1-399Gln ‫؍‬ 0.34/0.39, XRCC3-241Met ‫؍‬ 0.48/0.35 and XPD-751Gln ‫؍‬ 0.42/0.42. Odds ratios (ORs) were significantly greater than 1 only for the XRCC3 (exon 7) variant, and they were consistent across the 2 control groups. XPD and XRCC1 appear to have no impact on the risk of bladder cancer. Indeed, the effect of XRCC3 was more evident in non-smokers [OR ‫؍‬ 4.8, 95% confidence interval (CI) 1.1-21.2]. XRCC3 apparently interacted with the N-acetyltransferase type 2 (NAT-2) genotype. The effect of XRCC3 was limited to the NAT-2 slow genotype (OR ‫؍‬ 3.4, 95% CI 1.5-7.9), suggesting that XRCC3 might be involved in a common repair pathway of bulky DNA adducts. In addition, the risk of having DNA adduct levels above the median was higher in NAT-2 slow acetylators, homozygotes for the XRCC3-241Met variant allele (OR ‫؍‬ 14.6, 95% CI 1.5-138). However, any discussion of interactions should be considered preliminary because of the small numbers involved. Our results suggest that bladder-cancer risk can be genetically modulated by XRCC3, which may repair DNA cross-link lesions produced by aromatic amines and other environmental chemicals. © 2001 Wiley-Liss, Inc. Key words: bladder cancer; XRCC1; XRCC3; XPD; DNA adductsA potentially important source of interindividual variability in response to carcinogens is DNA-repair capability. Apart from rare recessive inherited syndromes such as ataxia-telangiectasia, Fanconi's anemia and Bloom's syndrome, all of which are characterized by both chromosomal instability and high risk of cancer, and xeroderma pigmentosum, characterized by extreme susceptibility to UV-induced skin cancer, 1 individuals differ widely in the ability to repair DNA damage. 2 Polymorphisms in DNA-repair genes have been described. 3,4 Their role in modulating the risk of environmentally induced cancer is potentially important but has been studied only occasionally. In particular, XPD, XRCC1 and XRCC3 have been proposed as polymorphic genes that might be involved in environmental carcinogenesis. [5][6][7][8][9][10] The XRCC1 protein is involved in the base excision-repair pathway, 11 acting apparently as a scaffold protein, facilitating the repair reaction by binding DNA ligase III at its carboxy and DNA polymerase ␤ to its amino terminus. 12 XRCC3 participates in DNA double-strand breaks/recombinational repair and belongs to an emerging family of Rad51-related prot...

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DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study

et al. 2001

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“…20 XPD is involved in the NER pathway, which recognizes and repairs a wide range of structurally unrelated lesions such as bulky adducts and thymidine dimers. 21 XPD functions as an ATP-dependent 5Ј-3Ј helicase joint to the basal transcription factor IIH complex.…”

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DNA adduct levels and DNA repair polymorphisms in traffic-exposed workers and a general population sample

Palli

Russo²,

Masala³

et al. 2001

Int. J. Cancer

121

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Peripheral blood DNA adducts have been considered an acceptable surrogate for target tissues and possibly predictive of cancer risk. A group of 114 workers exposed to traffic pollution and a random sample of 100 residents were drawn from the EPIC cohort in Florence, a population recently shown to present increased DNA adduct levels (Palli et al., Int J Cancer 2000;87:444 -51). DNA bulky adducts and 3 DNA repair gene polymorphisms were analyzed in peripheral leukocytes donated at enrollment, by using 32 P-postlabeling and PCR methods, respectively. Adduct levels were significantly higher for traffic workers among never smokers (p ‫؍‬ 0.03) and light current smokers (p ‫؍‬ 0.003). In both groups, urban residents tended to show higher levels than those living in suburban areas, and a seasonal trend emerged with adduct levels being highest in summer and lowest in winter. Traffic workers with at least 1 variant allele for XPD-Lys751Gln polymorphism had significantly higher levels in comparison to workers with 2 common alleles (p ‫؍‬ 0.02). A multivariate analysis (after adjustment for age, season, area of residence, smoking, XPD-Lys751Gln genotype and antioxidant intake) showed a significant 2-fold association between occupational exposure and higher levels of adducts (odds ratio 2.1; 95% confidence interval 1.1-4.2), in agreement with recent pooled estimates of increased lung cancer risk for similar job titles. Our results suggest that traffic workers and the general population in Florence are exposed to high levels of genotoxic agents related to vehicle emissions. Photochemical pollution in warmer months might be responsible for the seasonal trend of genotoxic damage in this Mediterranean urbanized area.

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“…The reason might be explain that XPD protein is involved in the nucleotide excision repair (NER) pathway, which recognizes and repair a wide range of structurally unrelated lesions such as bulky adducts and thymidine dimmers (Flejter et al, 1992;Lindahl et al, 1997;Braithwaite et al, 1999;de Laat et al, 1999). The XPD gene encodes a helicase that is a component of the transcription factor TFIH.…”

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confidence: 99%

DNA Repair Gene ERCC1 and XPD Polymorphisms Predict Glioma Susceptibility and Prognosis

Chen

Yao²,

Zhao³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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Aims: We conducted a case-control study in a Chinese population to clarify the association between polymorphisms in ERCC1 and XPD and susceptibility and survival of glioma. Methods: A total of 393 cases and 410 controls were selected from March 2007 to December 2011. Genotyping of ERCC1 and XPD was conducted by TaqMan assays using the ABI Prism 7911HT Sequence Detection System. All analyses were performed using the STATA statistical package. Results: Polymorphisms in ERCC1 118C/T, ERCC1 8092C/A and XPD Asp312Asn showed no statistically significant difference between glioma cases and controls. However, individuals with the XPD 751Gln/Gln genotype had an increased risk of developing glioma compared with those with the Lys/Lys genotype (adjusted OR=1.64, 95% CI: 1.06-2.89). The ERCC1 118T/T genotype was associated with significantly higher median survival than the ERCC1 C/C genotype (HR=0.67, 95%CI=0.35-0.96). In addition, individuals with XPD 751Gln/Gln had a lower median survival time than XPD Lys/Lys carriers (HR=0.54, 95%CI=0.37-0.93). Conclusion: In conclusion, we observed that the XPD 751Gln/Gln genotype is associated with glioma susceptibility, and ERCC1 118 T/T and XPD 751Gln/Gln genotypes confer a significantly better prognosis.

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Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene.

Cited by 137 publications

References 36 publications

DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study

DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study

DNA adduct levels and DNA repair polymorphisms in traffic-exposed workers and a general population sample

DNA Repair Gene ERCC1 and XPD Polymorphisms Predict Glioma Susceptibility and Prognosis

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