Cis-acting genetic variation at an E2F1/YY1 response site and putative p53 site is associated with altered allele-specific expression of ERCC5 (XPG) transcript in normal human bronchial epithelium

Carcinogenesis

Volumn 31, Issue 7, 2010, Pages 1242-1250

  Blomquist, Thomas M ^a   Crawford, Erin L ^a   Willey, James C ^a  

^a UNIVERSITY OF TOLEDO MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CIS ACTING ELEMENT; COMPLEMENTARY DNA; CYSTEINE; EXCISION REPAIR CROSS COMPLEMENTING PROTEIN 5; GENOMIC DNA; PROTEIN P53; THREONINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR E2F1; TRANSCRIPTION FACTOR YY1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BRONCHUS MUCOSA; CANCER RISK; CONTROLLED STUDY; DNA REPAIR; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RECOMBINATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; NORMAL BRONCHIAL EPITHELIAL CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; BRONCHI; DNA-BINDING PROTEINS; E2F1 TRANSCRIPTION FACTOR; ENDONUCLEASES; EPITHELIAL CELLS; FEMALE; GENETIC VARIATION; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; PROMOTER REGIONS, GENETIC; RNA, MESSENGER; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEIN P53; YY1 TRANSCRIPTION FACTOR;

EID: 77954370200     PISSN: 01433334     EISSN: 14602180     Source Type: Journal    
DOI: 10.1093/carcin/bgq057     Document Type: Article

References (48)

1. Mullins,D.N. et al. (2005) CEBPG transcription factor correlates with antioxidant and DNA repair genes in normal bronchial epithelial cells but not in individuals with bronchogenic carcinoma. BMC Cancer, 5, 141.
2. Blomquist,T. et al. (2009) Pattern of antioxidant and DNA repair gene expression in normal airway epithelium associated with lung cancer diagnosis. Cancer Res., 69, 8629-8635.
3. O'Donovan,A. et al. (1994) Isolation of active recombinant XPG protein, a human DNA repair endonuclease. J. Biol. Chem., 269, 15965-15968.
4. Mu,D. et al. (1996) Reaction mechanism of human DNA repair excision nuclease. J. Biol. Chem., 271, 8285-8294.
5. Lomonaco,S.L. et al. (2009) The role of Bcl-x(L) protein in nucleotide excision repair-facilitated cell protection against cisplatin-induced apoptosis. DNA Cell Biol., 28, 285-294.
6. Schmitz,K.M. et al. (2009) TAF12 recruits Gadd45a and the nucleotide excision repair complex to the promoter of rRNA genes leading to active DNA demethylation. Mol. Cell., 33, 344-353.
7. Ito,S. et al. (2007) XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. Mol. Cell., 26, 231-243.
8. Barreto,G. et al. (2007) Gadd45a promotes epigenetic gene activation by repair-mediated DNA demethylation. Nature, 445, 671-675.
9. Nouspikel,T.P. et al. (2006) Transcription domain-associated repair in human cells. Mol. Cell. Biol., 26, 8722-8730.
10. Koeppel,F. et al. (2004) Irofulven cytotoxicity depends on transcriptioncoupled nucleotide excision repair and is correlated with XPG expression in solid tumor cells. Clin. Cancer Res., 10, 5604-5613.
11. Cheng,L. et al. (2000) Reduced expression levels of nucleotide excision repair genes in lung cancer: a case-control analysis. Carcinogenesis, 21, 1527-1530.
12. Cheng,L. et al. (2002) Expression of nucleotide excision repair genes and the risk for squamous cell carcinoma of the head and neck. Cancer, 94, 393-397.
13. Guo,W.F. et al. (2005) Identification of differentially expressed genes contributing to radioresistance in lung cancer cells using microarray analysis. Radiat. Res., 164, 27-35.
14. Stevens,E.V. et al. (2008) Predicting cisplatin and trabectedin drug sensitivity in ovarian and colon cancers. Mol. Cancer Ther., 7, 10-18.
15. Walsh,C.S. et al. (2008) ERCC5 is a novel biomarker of ovarian cancer prognosis. J. Clin. Oncol., 26, 2952-2958.
16. Bartolucci,R. et al. (2009) XPG mRNA expression levels modulate prognosis in resected non-small-cell lung cancer in conjunction with BRCA1 and ERCC1 expression. Clin. Lung Cancer, 10, 47-52.
17. Crawford,E.L. et al. (2007) CEBPG regulates ERCC5/XPG expression in human bronchial epithelial cells and this regulation is modified by E2F1/YY1 interactions. Carcinogenesis, 28, 2552-2559.
18. Zienolddiny,S. et al. (2006) Polymorphisms of DNA repair genes and risk of non-small cell lung cancer. Carcinogenesis, 27, 560-567.
19. Hooker,S. et al. (2008) NAT2 and NER genetic variants and sporadic prostate cancer susceptibility in African Americans. Prostate Cancer Prostatic Dis., 11, 349-356.
20. Hyytinen,E.R. et al. (1999) Three distinct regions of allelic loss at 13q14, 13q21-22, and 13q33 in prostate cancer. Genes Chromosomes Cancer, 25, 108-114.
21. Hyytinen,E.R. et al. (1999) Loss of heterozygosity and lack of mutations of the XPG/ERCC5 DNA repair gene at 13q33 in prostate cancer. Prostate, 41, 190-195.
22. Carles,J. et al. (2006) Single-nucleotide polymorphisms in base excision repair, nucleotide excision repair, and double strand break genes as markers for response to radiotherapy in patients with Stage I to II head-and-neck cancer. Int. J. Radiat. Oncol. Biol. Phys., 66, 1022-1030.
23. Monzo,M. et al. (2007) Single nucleotide polymorphisms in nucleotide excision repair genes XPA, XPD, XPG and ERCC1 in advanced colorectal cancer patients treated with first-line oxaliplatin/fluoropyrimidine. Oncology, 72, 364-370.
24. Sun,X. et al. (2009) Polymorphisms in XRCC1 and XPG and response to platinum-based chemotherapy in advanced non-small cell lung cancer patients. Lung Cancer, 65, 230-236.
25. Kiyohara,C. et al. (2007) Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis. Int. J. Med. Sci., 4, 59-71.
26. Cartharius,K. et al. (2005) MatInspector and beyond: promoter analysis based on transcription factor binding sites. Bioinformatics, 21, 2933-2942.
27. Frazer,K.A. et al. (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature, 449, 851-861.
28. Nagano,M. et al. (2003) Allele-specific long-range PCR/sequencing method for allelic assignment of multiple single nucleotide polymorphisms. J. Biochem. Biophys. Methods., 55, 1-9.
29. Canales,R.D. et al. (2006) Evaluation of DNA microarray results with quantitative gene expression platforms. Nat. Biotechnol., 24, 1115-1122.
30. Willey,J.C. et al. (1998) Expression measurement of many genes simultaneously by quantitative RT-PCR using standardized mixtures of competitive templates. Am. J. Respir. Cell Mol. Biol., 19, 6-17.
31. Willey,J.C. et al. (2004) Use of standardized mixtures of internal standards in quantitative RT-PCR to ensure quality control and develop a standardized gene expression database. In Bustin,S.A. (ed.) A-Z of Quantitative PCR. International University Line, La Jolla, CA, pp. 545-576.
32. McDonald,J.H. (2008) Handbook of Biological Statistics. Maryland: Sparky House Publishing. pp. 145-147.
33. Newton,C.R. et al. (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res., 17, 2503-2516.
34. Kawaji,H. et al. (2006) Dynamic usage of transcription start sites within core promoters. Genome Biol., 7, R118.
35. Suzuki,Y. et al. (2004) DBTSS, DataBase of Transcriptional Start Sites: progress report 2004. Nucleic Acids Res., 32, D78-D81.
36. Knight,J.C. (2004) Allele-specific gene expression uncovered. Trends Genet., 20, 113-116.
37. Pastinen,T. et al. (2006) Influence of human genome polymorphism on gene expression. Hum Mol Genet, 15, Spec No 1, R9-R16.
38. Cirulli,E.T. et al. (2007) In vitro assays fail to predict in vivo effects of regulatory polymorphisms. Hum. Mol. Genet., 16, 1931-1939.
39. Liljedahl,U. et al. (2004) Detecting imbalanced expression of SNP alleles by minisequencing on microarrays. BMC Biotechnol., 4, 24.
40. Campino,S. et al. (2008) Validating discovered Cis-acting regulatory genetic variants: application of an allele specific expression approach to HapMap populations. PLoS One, 3, e4105.
41. Chen,X. et al. (2008) Allelic imbalance in BRCA1 and BRCA2 gene expression is associated with an increased breast cancer risk. Hum. Mol. Genet., 17, 1336-48.
42. Guda,K. et al. (2009) Infrequent detection of germline allele-specific expression of TGFBR1 in lymphoblasts and tissues of colon cancer patients. Cancer Res., 69, 4959-4961.
43. Valle,L. et al. (2008) Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer. Science, 321, 1361-1365.
44. Knight,J.C. et al. (2003) In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading. Nat. Genet., 33, 469-475.
45. de la Chapelle,A. (2009) Genetic predisposition to human disease: allelespecific expression and low-penetrance regulatory loci. Oncogene, 28, 3345-3348.
46. Powley,I.R. et al. (2009) Translational reprogramming following UVB irradiation is mediated by DNA-PKcs and allows selective recruitment to the polysomes of mRNAs encoding DNA repair enzymes. Genes Dev., 23, 1207-1220.
47. Clop,A. et al. (2006) A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep. Nat. Genet., 38, 813-818.
48. Chen,J. et al. (2009) ERCC5 promoter polymorphisms at -763 and +25 predict the response to oxaliplatin-based chemotherapy in patients with advanced colorectal cancer. Cancer Biol. Ther., 8, 1424-1430.