Refined mapping of the three DNA repair genes, ERCC1, ERCC2, and XRCC1, on human chromosome 19

Mohrenweiser, Harvey W.; Carrano, A.V.; Fertitta, Anne; Perry, Benson; Thompson, Lawrence H.; Tucker, James D.; Weber, Christine A.

doi:10.1159/000132829

Cited by 85 publications

(43 citation statements)

References 7 publications

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“…ERCC1 and XRCC1 are not involved in the same DNA repair pathway. However, both ERCC1 and XRCC1 genes are located in close proximity to each other at 19q13.2-13.3 (22) and they may be simultaneously altered by deletion and other changes. A significant correlation was observed between ERCC1 and XRCC1 expression in bladder tumors (Table Ⅱ).…”

Section: Discussionmentioning

confidence: 99%

ERCC1 and XRCC1 expression predicts survival in bladder cancer patients receiving combined trimodality therapy

Sakano

Ogawa

Yamamoto

et al. 2013

Molecular and Clinical Oncology

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Abstract. Combined trimodality therapy, including transurethral resection and platinum-based chemoradiotherapy, has shown promising results for muscle-invasive bladder cancer. However, this type of treatment may decrease survival as a result of delayed cystectomy in patients with non-responding tumors. DNA repair proteins may affect survival of bladder cancer patients receiving combined trimodality therapy, by affecting the perioperative nature of the tumor cells or by repairing DNA damaged by platinum agents and radiation. We investigated the associations of excision repair cross-complementing group 1 (ERCC1), X-ray repair cross-complementing group 1 (XRCC1) and apurinic/apyrimidinic endonuclease 1 (APE1) expression with response and survival in 157 locally advanced bladder cancer patients receiving combined trimodality therapy, in order to determine the predictive value of the expression of these proteins in patient selection for therapy. We examined ERCC1, XRCC1 and APE1 expression in tumor specimens using immunohistochemistry. Patients positive for ERCC1, positive for XRCC1 and positive for either ERCC1 or XRCC1, exhibited significantly improved disease-specific survival rates (P=0.023, 0.025 and 0.0091, respectively). In multivariate analysis, combined ERCC1 and XRCC1 expression was independently associated with disease-specific mortality [risk ratio (RR): 0.64; 95% confidence interval (CI), 0.43-0.94 and P=0.024]. Thus, combined ERCC1 and XRCC1 expression may serve as an independent prognostic marker for survival in bladder cancer patients receiving combined trimodality therapy. Prospective studies with a larger sample size are required to confirm these results.

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Section: Discussionmentioning

confidence: 99%

ERCC1 and XRCC1 expression predicts survival in bladder cancer patients receiving combined trimodality therapy

Sakano

Ogawa

Yamamoto

et al. 2013

Molecular and Clinical Oncology

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“…Human XRCC1 gene has been proved in correcting the repair defects in the Chinese hamster ovary cell mutant EM9 (Thompson et 1 * al., 1990). XRCC1 gene is mapped to human chromosome 19q13.2-13.3 (Mohrenweiser et al, 1989;Thompson et al, 1989) and consists of 17 exons (Wood et al, 2001). It encodes a protein of 633 amino acids (Mohamadynejad and Saadat, 2008) that functions in base excision repair (BER) (Caldecott et al, 1996) and in single-strand breaks (SSB) of damaged bases caused by endogenous and exogenous oxidants (Skjelbred et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

Variant Alleles in XRCC1 Arg194Trp and Arg399Gln Polymorphisms Increase Risk of Gastrointestinal Cancer in Sabah, North Borneo

Halim¹,

Chong²,

Goh³

et al. 2016

Asian Pacific Journal of Cancer Prevention

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Background: The XRCC1 protein facilitates various DNA repair pathways; single-nucleotide polymorphisms (SNPs) in this gene are associated with a risk of gastrointestinal cancer (GIC) with inconsistent results, but no data have been previously reported for the Sabah, North Borneo, population. We accordingly investigated the XRCC1 Arg194Trp and Arg399Gln SNPs in terms of GIC risk in Sabah. Materials and Methods: We performed genotyping for both SNPs for 250 GIC patients and 572 healthy volunteers using a polymerase chain reactionrestriction fragment length polymorphism approach. We validated heterozygosity and homozygosity for both SNPs using direct sequencing. Results: The presence of a variant 194Trp allele in the Arg194Trp SNP was significantly associated with a higher risk of GIC, especially with gastric and colorectal cancers. We additionally found that the variant 399Gln allele in Arg399Gln SNP was associated with a greater risk of developing gastric cancer. Our combined analysis revealed that inheritance of variant alleles in both SNPs increased the GIC risk in Sabah population. Based on our etiological analysis, we found that subjects ≥50 years and males who carrying the variant 194Trp allele, and Bajau subjects carrying the 399Gln allele had a significantly increased risk of GIC. Conclusions: Our findings suggest that inheritance of variant alleles in XRCC1 Arg194Trp and Arg399Gln SNPs may act as biomarkers for the early detection of GIC, especially for gastric and colorectal cancers in the Sabah population.

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“…Six ERCC loci have been mapped to human chromosomes (16). ERCCI and ERCC2 and a gene involved in the repair of ionizing radiation damage, designated XRCCJ, map to the region 19q13.2-q13.3 (17), defining a human DNA repair gene cluster on chromosome 19.…”

mentioning

confidence: 99%

“…Molecular characterization of this chromosome revealed a rearrangement involving human chromosomes 16 and 19, including the human DNA repair gene cluster from chromosome 19q13.2-q13.3 (17). Transfer of a cosmid bearing the cloned ERCC2 gene (11), mapped to this cluster (17,27), resulted in correction of sensitivity to UV radiation in XP-D cells.…”

mentioning

confidence: 99%

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

Flejter

McDaniel

Johns

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

137

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Cultured cells from individuals afflicted with the genetically heterogeneous autosomal recessive disorder xeroderma pigmentosum (XP) exhibit sensitivity to UV radiation and defective nucleotide excision repair. Complementation of these mutant phenotypes after the introduction of single human chromosomes from repair-proficient cells into XP cells has provided a means of mapping the genes involved in this disease. We now report the phenotypic correction of XP cells from genetic complementation group D (XP-D) by a single human chromosome designated Tneo. Detailed molecular characterization of Tneo revealed a rearranged structure involving human chromosomes 16 and 19, including the excision repair cross-complementing 2 (ERCC2) gene from the previously described human DNA repair gene cluster at 19q13.2-q13.3. Direct transfer of a cosmid bearing the ERCC2 gene conferred UV resistance to XP-D cells.

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Refined mapping of the three DNA repair genes, ERCC1, ERCC2, and XRCC1, on human chromosome 19

Cited by 85 publications

References 7 publications

ERCC1 and XRCC1 expression predicts survival in bladder cancer patients receiving combined trimodality therapy

ERCC1 and XRCC1 expression predicts survival in bladder cancer patients receiving combined trimodality therapy

Variant Alleles in XRCC1 Arg194Trp and Arg399Gln Polymorphisms Increase Risk of Gastrointestinal Cancer in Sabah, North Borneo

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

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