Genomes and Genes
xeroderma pigmentosum group d protein
Summary: A DNA helicase that is a component of TRANSCRIPTION FACTOR TFIIH. It plays an essential role in NUCLEOTIDE EXCISION REPAIR, and mutations in this protein are associated with XERODERMA PIGMENTOSUM.
- Mahimkar M, Samant T, Kannan S, Tulsulkar J, Pai P, Anantharaman D. Polymorphisms in GSTM1 and XPD genes predict clinical outcome in advanced oral cancer patients treated with postoperative radiotherapy. Mol Carcinog. 2012;51 Suppl 1:E94-103 pubmed publisher..GSTM1 and XPD variant alleles, independently as well as in combination may serve as important predictors of clinical outcome in radiotherapy-treated OSCC patients. ..
- Chen X, Sun H, Ren S, Kim Curran V, Zhang L, Zhou S, et al. Association of XRCC3 and XPD751 SNP with efficacy of platinum-based chemotherapy in advanced NSCLC patients. Clin Transl Oncol. 2012;14:207-13 pubmed..XPD 751 Lys/ Lys might be a better prognostic marker of elderly or noncarcinoma NSCLC subgroup treated with platinum-based chemotherapy. ..
- Qiu L, Yao L, Zhang J, Zhu X, Zhao X, Xue K, et al. XPD Lys751Gln polymorphism and breast cancer susceptibility: a meta-analysis involving 28,709 subjects. Breast Cancer Res Treat. 2010;124:229-35 pubmed publisher..20; Gln/Gln vs. Lys/Lys: OR = 1.15, 95% CI = 1.01-1.31; dominant model: OR = 1.12, 95% CI = 1.03-1.23). In conclusion, this meta-analysis suggests that the XPD 751Gln allele is a low-penetrant risk factor for developing breast cancer. ..
- Provencio M, Camps C, Cobo M, de Las Peñas R, Massuti B, Blanco R, et al. Prospective assessment of XRCC3, XPD and Aurora kinase A single-nucleotide polymorphisms in advanced lung cancer. Cancer Chemother Pharmacol. 2012;70:883-90 pubmed publisher..Our findings indicate that SNPs in XRCC3, XPD or Aurora kinase A cannot predict outcomes in advanced NSCLC patients treated with platinum-based chemotherapy. ..
- Zhai X, Mo Y, Xue X, Zhao G, Gao L, Ai H, et al. XRCC1 codon 280 and ERCC2 codon 751 polymorphisms and risk of esophageal squamous cell carcinoma in a Chinese population. Bull Cancer. 2009;96:E61-5 pubmed publisher..05), while ERCC2 codon 751Gln allele was associated with a borderline decrease of ESCC (odds ratio [OR] = 0.628, 95% confidence interval [CI]: 0.400-0.986). ..
- Sreeja L, Syamala V, Syamala V, Hariharan S, Raveendran P, Vijayalekshmi R, et al. Prognostic importance of DNA repair gene polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln in lung cancer patients from India. J Cancer Res Clin Oncol. 2008;134:645-52 pubmed
- Yuan T, Deng S, Chen M, Chen W, Lu W, Huang H, et al. Association of DNA repair gene XRCC1 and XPD polymorphisms with genetic susceptibility to gastric cancer in a Chinese population. Cancer Epidemiol. 2011;35:170-4 pubmed publisher..Future study will verify these findings for use of this SNP as biomarker in gastric cancer. ..
- Li C, Hu Z, Liu Z, Wang L, Strom S, Gershenwald J, et al. Polymorphisms in the DNA repair genes XPC, XPD, and XPG and risk of cutaneous melanoma: a case-control analysis. Cancer Epidemiol Biomarkers Prev. 2006;15:2526-32 pubmed..We concluded that genetic variants of the XPD gene might serve as biomarkers for susceptibility to cutaneous melanoma. ..
- Ye W, Kumar R, Bacova G, Lagergren J, Hemminki K, Nyren O. The XPD 751Gln allele is associated with an increased risk for esophageal adenocarcinoma: a population-based case-control study in Sweden. Carcinogenesis. 2006;27:1835-41 pubmed..Other studied variants were not found to be related to the three tumors. Our study suggests that XPD 751Gln allele is a potential genetic marker for susceptibility to esophageal adenocarcinoma. ..
- Wijnhoven S, Beems R, Roodbergen M, van den Berg J, Lohman P, Diderich K, et al. Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction. DNA Repair (Amst). 2005;4:1314-24 pubmed..Our current findings in Xpd(TTD) mice further strengthen the link between DNA damage, repair and aging. ..
- Li X, Han J, Zhang Y, Li H, Wu X. Common variations of DNA repair genes are associated with response to platinum-based chemotherapy in NSCLCs. Asian Pac J Cancer Prev. 2013;14:145-8 pubmed..We found polymorphisms in XPD to be associated with response to platinum-based chemotherapy in NSCLC, and our findings provide information for therapeutic decisions for individualized therapy. ..
- Vogel U, Overvad K, Wallin H, Tjønneland A, Nexø B, Raaschou Nielsen O. Combinations of polymorphisms in XPD, XPC and XPA in relation to risk of lung cancer. Cancer Lett. 2005;222:67-74 pubmed..We found that XPA A23G and XPC Lys939Gln polymorphisms may be risk factors for lung cancer and evidence that positive interactions between the polymorphisms in XPA/XPD and XPC/XPD may occur. ..
- Justenhoven C, Hamann U, Pesch B, Harth V, Rabstein S, Baisch C, et al. ERCC2 genotypes and a corresponding haplotype are linked with breast cancer risk in a German population. Cancer Epidemiol Biomarkers Prev. 2004;13:2059-64 pubmed..49; 95% CI, 2.30-5.28). To our knowledge, this is the first study assigning breast cancer risk to both the ERCC2 genotype encoding Asp(312)Asp and the haplotype encoding Asp(312)/Gln(751). ..
- Liu G, Zhou W, Yeap B, Su L, Wain J, Poneros J, et al. XRCC1 and XPD polymorphisms and esophageal adenocarcinoma risk. Carcinogenesis. 2007;28:1254-8 pubmed..No relationships were found for the XPD Asp312Asn polymorphism. We conclude that combined NER and BER pathways are important to the development of EA. ..
- Yin M, Yan J, Martinez Balibrea E, Graziano F, Lenz H, Kim H, et al. ERCC1 and ERCC2 polymorphisms predict clinical outcomes of oxaliplatin-based chemotherapies in gastric and colorectal cancer: a systemic review and meta-analysis. Clin Cancer Res. 2011;17:1632-40 pubmed publisher..Larger studies and further clinical trials are warranted to confirm these findings. ..
- Ludovini V, Floriani I, Pistola L, Minotti V, Meacci M, Chiari R, et al. Association of cytidine deaminase and xeroderma pigmentosum group D polymorphisms with response, toxicity, and survival in cisplatin/gemcitabine-treated advanced non-small cell lung cancer patients. J Thorac Oncol. 2011;6:2018-26 pubmed publisher..006). Our data suggest polymorphic variations of drug metabolic gene were associated with response and toxicity of cisplatin/gemcitabine-based therapy and progression-free survival of patients with advanced NSCLC. ..
- Costa S, Pinto D, Pereira D, Vasconcelos A, Afonso Lopes C, Osório T, et al. Importance of xeroderma pigmentosum group D polymorphisms in susceptibility to ovarian cancer. Cancer Lett. 2007;246:324-30 pubmed..61-7.15; P=0.001). Asn312Asn and Gln751Gln are particularly associated with an early-stage of disease. Our results suggest an important role for Asn312Asn and Gln751Gln XPD polymorphisms in the susceptibility to ovarian cancer. ..
- Boyle J, Ueda T, Oh K, Imoto K, Tamura D, Jagdeo J, et al. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat. 2008;29:1194-208 pubmed publisher..In contrast, in TTD, low levels of unstable TFIIH proteins do not accumulate at sites of unrepaired photoproducts and may permit normal translesion DNA synthesis without increased skin cancer...
- Rudolf J, Rouillon C, Schwarz Linek U, White M. The helicase XPD unwinds bubble structures and is not stalled by DNA lesions removed by the nucleotide excision repair pathway. Nucleic Acids Res. 2010;38:931-41 pubmed publisher..These observations have several implications for the current understanding of the NER pathway. ..
- ..Apart from anticipated helicase domains the structures reveal a 4FeS cluster and novel "Arch" domain. The structures help our understanding of genotype-phenotype relationships in the XPD gene...
- Terry M, Gammon M, Zhang F, Eng S, Sagiv S, Paykin A, et al. Polymorphism in the DNA repair gene XPD, polycyclic aromatic hydrocarbon-DNA adducts, cigarette smoking, and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2004;13:2053-8 pubmed..Overall, this study suggests that those individuals with this polymorphism in the XPD gene may face an increased risk of breast cancer from PAH-DNA adducts and cigarette smoking. ..
- Romanowicz Makowska H, Sobczuk A, Smolarz B, Fiks T, Kulig A. XPD Lys751Gln polymorphism analysis in women with sporadic breast cancer. Pol J Pathol. 2007;58:245-9 pubmed..05). The results support the hypothesis that the Lys751Gln polymorphism of XPD gene may be associated with the incidence of breast cancer. ..
- Yao C, Huang X, Li C, Shen H, Shi M, Feng J, et al. Lack of influence of XRCC1 and XPD gene polymorphisms on outcome of platinum-based chemotherapy for advanced non small cell lung cancers. Asian Pac J Cancer Prev. 2009;10:859-64 pubmed..09). Our results suggested no influence of the XRCC1 codon399 (Arg/Gln) and XPD codon751 (Lys/Gln) genetic polymorphisms on treatment response and survival in advanced NSCLC patients with platinum-based chemotherapy. ..
- Guven M, Unal M, Batar B, Eroglu E, Devarnoğlu K, Tamcelik N, et al. Polymorphisms of DNA repair genes XRCC1 and XPD and risk of primary open angle glaucoma (POAG). Mol Vis. 2007;13:12-7 pubmed..46; OR: 0.77; 95% CI:0.42-1.43 for XRCC1 399Gln and p=0.88; OR: 0.92 95% CI: 0.50-1.67 for XPD 751Gln). Polymorphisms in XPD codon 751 and XRCC1 codon 399 were not associated with risk of POAG in a sample of Turkish patients. ..
- Andressoo J, Mitchell J, de Wit J, Hoogstraten D, Volker M, Toussaint W, et al. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Cancer Cell. 2006;10:121-32 pubmed..Like CS fibroblasts, XPCS and TTD fibroblasts from human and mouse showed evidence of defective repair of oxidative DNA lesions that may underlie these segmental progeroid symptoms. ..
- Chen B, Zhou Y, Yang P, Wu X. ERCC2 Lys751Gln and Asp312Asn polymorphisms and gastric cancer risk: a meta-analysis. J Cancer Res Clin Oncol. 2011;137:939-46 pubmed publisher..No publication bias was found in the present study. This meta-analysis concluded that both ERCC2 Lys751Gln and Asp312Asn polymorphisms might contribute to increased risk of GC among Asians. ..
- Kertat K, Rosdahl I, Sun X, Synnerstad I, Zhang H. The Gln/Gln genotype of XPD codon 751 as a genetic marker for melanoma risk and Lys/Gln as an important predictor for melanoma progression: a case control study in the Swedish population. Oncol Rep. 2008;20:179-83 pubmed..No correlations between the polymorphisms and phenotypes of the patients were found. In conclusion, Gln/Gln was a useful genetic marker for melanoma risk in the males, while Lys/Gln was an important predictor for melanoma progression. ..
- Yin J, Liang D, Vogel U, Chang Y, Liu Z, Yue L, et al. The polymorphism of DNA repair gene ERCC2/XPD Arg156Arg and susceptibility to breast cancer in a Chinese population. Biochem Genet. 2009;47:582-90 pubmed publisher..05). There were no differences in risk estimates in relation to menopause and occurrence of breast cancer. Our findings do not suggest that ERCC2/XPD Arg156Arg contributes to breast cancer susceptibility in a Chinese population. ..
- Banerjee M, Sarkar J, Das J, Mukherjee A, Sarkar A, Mondal L, et al. Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations. Carcinogenesis. 2007;28:672-6 pubmed..This study indicates that ERCC2 codon 751 Lys/Lys genotype is significantly associated with arsenic-induced premalignant hyperkeratosis and is possibly due to sub-optimal DNA repair capacity of the ERCC2 codon 751 Lys/Lys genotype. ..
- Chang J, Wrensch M, Hansen H, Sison J, Aldrich M, Quesenberry C, et al. Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans. Int J Cancer. 2008;123:2095-104 pubmed publisher..61; 95% CI: 0.42-0.88). Our study suggests different elements of the NER pathway may be important in the different ethnic groups resulting either from different linkage relationship, genetic backgrounds and/or exposure histories. ..
- Mechanic L, Marrogi A, Welsh J, Bowman E, Khan M, Enewold L, et al. Polymorphisms in XPD and TP53 and mutation in human lung cancer. Carcinogenesis. 2005;26:597-604 pubmed..In conclusion, differences in TP53 mutation spectra in lung tumors are associated with several genetic factors and may reflect differences in lung cancer susceptibility and carcinogenesis. ..
- Han J, Colditz G, Liu J, Hunter D. Genetic variation in XPD, sun exposure, and risk of skin cancer. Cancer Epidemiol Biomarkers Prev. 2005;14:1539-44 pubmed..03, 0.04, and 0.02 respectively). Similar interactions were also observed for the Asp312Asn. Our data suggest these two XPD nonsynonymous polymorphisms may be associated with skin cancer risk, especially for melanoma. ..
- Coin F, Oksenych V, Egly J. Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair. Mol Cell. 2007;26:245-56 pubmed..Our results suggest a mechanism in which the helicase activity of XPB is not used for the opening and repair of damaged DNA, which is instead only driven by its ATPase activity, in combination with the helicase activity of XPD. ..
- Yin Q, Liu C, Hu J, Meng R, Li L, Wang Y. XPD Lys751Gln and Asp312Asn polymorphisms and gastric cancer susceptibility: a meta-analysis of case-control studies. Asian Pac J Cancer Prev. 2013;14:231-6 pubmed
- Ding D, Ma W, He X, Zhang Y. XPD Lys751Gln polymorphism and esophageal cancer susceptibility: a meta-analysis of case-control studies. Mol Biol Rep. 2012;39:2533-40 pubmed publisher..And a study with the larger sample size is needed to further evaluate gene-environment interaction on XPD Lys751Gln polymorphism and EC risk. ..
- Andressoo J, Jans J, de Wit J, Coin F, Hoogstraten D, van de Ven M, et al. Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. PLoS Biol. 2006;4:e322 pubmed..Our data suggest a re-evaluation of the contribution of "null" alleles to XPD disorders and highlight the potential of combinations of recessive alleles to affect both normal and pathological phenotypic plasticity in mammals. ..
- Rzeszowska Wolny J, Polanska J, Pietrowska M, Palyvoda O, Jaworska J, Butkiewicz D, et al. Influence of polymorphisms in DNA repair genes XPD, XRCC1 and MGMT on DNA damage induced by gamma radiation and its repair in lymphocytes in vitro. Radiat Res. 2005;164:132-40 pubmed
- Yin M, Yan J, Voutsina A, Tibaldi C, Christiani D, Heist R, et al. No evidence of an association of ERCC1 and ERCC2 polymorphisms with clinical outcomes of platinum-based chemotherapies in non-small cell lung cancer: a meta-analysis. Lung Cancer. 2011;72:370-7 pubmed publisher..The nucleotide excision repair (NER) pathway modulates platinum-based chemotherapeutic efficacy by removing drug-induced DNA damage...
- Applebaum K, Karagas M, Hunter D, Catalano P, Byler S, Morris S, et al. Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire. Environ Health Perspect. 2007;115:1231-6 pubmed..Arsenic exposure may alter the efficiency of DNA repair. UV damage is specifically repaired by nucleotide excision repair (NER), and common genetic variants in NER may increase risk for non-melanoma skin cancer (NMSC)...
- Wolfe K, Wickliffe J, Hill C, Paolini M, Ammenheuser M, Abdel Rahman S. Single nucleotide polymorphisms of the DNA repair gene XPD/ERCC2 alter mRNA expression. Pharmacogenet Genomics. 2007;17:897-905 pubmed
- Gao W, Romkes M, Zhong S, Nukui T, Persad R, Smith P, et al. Genetic polymorphisms in the DNA repair genes XPD and XRCC1, p53 gene mutations and bladder cancer risk. Oncol Rep. 2010;24:257-62 pubmed..These results suggest that individuals who have the XPD 751 Gln allele may be at an increased risk for bladder cancer, although this may not lead to an increased risk for mutations in the p53 gene. ..
- Bigler J, Ulrich C, Kawashima T, Whitton J, Potter J. DNA repair polymorphisms and risk of colorectal adenomatous or hyperplastic polyps. Cancer Epidemiol Biomarkers Prev. 2005;14:2501-8 pubmed..38; 95% CI, 0.25-7.65). Our data suggest that polymorphisms in DNA repair genes may be risk factors for colorectal neoplasia and that they may exacerbate the effects of exposures to carcinogens. ..
- Kipikasová L, Wolaschka T, Bohus P, Baumohlová H, Bober J, Blazejová J, et al. Polymorphisms of the XRCC1 and XPD genes and breast cancer risk: a case-control study. Pathol Oncol Res. 2008;14:131-5 pubmed publisher..0001, odds ratio = 2.14; 95% confidence interval 1.44-3.17). The data indicate a possible role for XPD (Arg156Arg, C/A) polymorphisms in BC susceptibility. ..
- Liu L, Yuan P, Wu C, Zhang X, Wang F, Guo H, et al. Assessment of XPD Lys751Gln and XRCC1 T-77C polymorphisms in advanced non-small-cell lung cancer patients treated with platinum-based chemotherapy. Lung Cancer. 2011;73:110-5 pubmed publisher..Our findings indicated that neither XPD Lys751Gln nor XRCC1 T-77C could be genetic determinant for prognosis of advanced NSCLC patients treated with platinum-based chemotherapy. ..
- Biason P, Hattinger C, Innocenti F, Talamini R, Alberghini M, Scotlandi K, et al. Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy. Pharmacogenomics J. 2012;12:476-83 pubmed publisher..55, 95% CI 0.36-0.84). This study suggests that XPD rs1799793 could be a marker of osteosarcoma associated with features conferring either a better prognosis or a better outcome after platinum therapy, or both. ..
- Laine J, Mocquet V, Bonfanti M, Braun C, Egly J, Brousset P. Common XPD (ERCC2) polymorphisms have no measurable effect on nucleotide excision repair and basal transcription. DNA Repair (Amst). 2007;6:1264-70 pubmed..Altogether, evolutionary data, structural analyses and biochemical investigations strongly suggest that all XPD variants are comparable regarding the main properties of XPD and TFIIH. ..
- Feng Z, Ni Y, Dong W, Shen H, Du J. Association of ERCC2/XPD polymorphisms and interaction with tobacco smoking in lung cancer susceptibility: a systemic review and meta-analysis. Mol Biol Rep. 2012;39:57-69 pubmed publisher..Extremely large-scale evidence would be necessary to confirm the effects on ethnically specific populations and gene-environment interactions. ..
- Li H, Ha T, Tai B. XRCC1 gene polymorphisms and breast cancer risk in different populations: a meta-analysis. Breast. 2009;18:183-91 pubmed publisher..Arg/Arg+Arg/Gln: OR=1.59, 95% CI=1.22, 2.09) only. These findings suggest that polymorphisms Arg280His and Arg399Gln may modify breast cancer risk differently in Caucasian and Asian populations. ..
- Suárez Martínez E, Ruiz A, Matías J, Morales L, Cruz A, Vázquez D, et al. Early-onset of sporadic basal-cell carcinoma: germline mutations in the TP53, PTCH, and XPD genes. P R Health Sci J. 2007;26:349-54 pubmed..The results of this study, suggest that the XPD Lys751Gln polymorphism may have a significant role in the development of early-onset BCC in the Puerto Rican population. ..
- Kalikaki A, Kanaki M, Vassalou H, Souglakos J, Voutsina A, Georgoulias V, et al. DNA repair gene polymorphisms predict favorable clinical outcome in advanced non-small-cell lung cancer. Clin Lung Cancer. 2009;10:118-23 pubmed publisher..These findings support the notion that assessment of genetic variations of ERCC1 and XRCC1 could facilitate therapeutic decisions for individualized therapy in advanced NSCLC. ..