Conformational effects of a common codon 751 polymorphism on the C-terminal domain of the xeroderma pigmentosum D protein

Journal of Carcinogenesis

Volumn 8, Issue , 2009, Pages

  Monaco, Regina ^a   Rosal, Ramon ^a,b   Dolan, Michael ^c   Pincus, Matthew ^d   Freyer, Greg ^a   Brandt Rauf, Paul ^a,e  

^a Department of Medicine   (United States)

^b NEW YORK CITY DEPARTMENT OF HEALTH AND MENTAL HYGIENE   (United States)

^c TRIPOS INC   (United States)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

^e UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

Genetic polymorphism; molecular dynamics; nucleotide excision repair; structure function correlation

Indexed keywords

DNA; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

AMINO TERMINAL SEQUENCE; ARTICLE; CANCER RISK; CARBOXY TERMINAL SEQUENCE; CODON; CONFORMATIONAL TRANSITION; DNA REPAIR; GENETIC POLYMORPHISM; MOLECULAR DYNAMICS; PREDICTION; PROTEIN STRUCTURE; WILD TYPE;

EID: 77956590043     PISSN: 09746773     EISSN: 14773163     Source Type: Journal    
DOI: 10.4103/1477-3163.54918     Document Type: Article

References (16)

1. Chen J, Suter B. XPD, a structural bridge and a functional link. Cell Cycle 2003;2:503-6.
2. Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM. Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nat Genet 1998;20:184-8.
3. Shen MR, Jones IM, Mohrenweiser H. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res 1998;58:604-8.
4. Benhamou S, Sarasin A. ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis 2002;17:463-9.
5. Bienstock RJ, Skorvaga M, Mandavilli BS, Van Houten B. Structural and functional characterization of the human DNA repair helicase XPD by comparative molecular modeling and site-directed mutagenesis of the bacterial repair protein UvrB. J Biol Chem 2003;278:5309-16.
6. Brandt-Rauf PW, Chen JM, Marion MJ, Smith SJ, Luo JC, Carney W, et al. Conformational effects in the p53 protein of mutations induced during chemical carcinogenesis: molecular dynamic and immunologic analyses. J Protein Chem 1996;15:367-75.
7. Chen JM, Rosal R, Smith S, Pincus MR, Brandt-Rauf PW. Common conformational effects of p53 mutations. J Protein Chem 2001;20:101-5.
8. Monaco R, Rosal R, Dolan MA, Pincus MR, Brandt-Rauf PW. Conformational effects of a common codon 399 polymorphism on the BRCT1 domain of the XRCC1 protein. Protein J 2007;26:541-6.
9. Botta E, Nardo T, Broughton BC, Marinoni S, Lehmann AR, Stefanini M. Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. J Hum Genet 1998;63:1036-48.
10. Lunn RM, Helzlsouer KJ, Parshad R, Umbach DM, Harris EL, Sanford KK, et al. XPD polymorphisms: effects on DNA repair proficiency. Carcinogenesis 2000;21:551-5.
11. Qiao Y, Spitz MR, Guo Z, Hadeyati M, Grossman L, Kraemer KH, et al. Rapid assessment of repair of ultraviolet DNA damage with a modified host-cell reactivation assay using a luciferase reporter gene and correlation with polymorphisms of DNA repair genes in normal human lymphocytes. Mutat Res 2002;509:165-74.
12. Au WW, Salama SA, Sierra-Torres CH. Functional characterization of polymorphisms in DNA repair genes using cytogenetic challenge assays. Environ Health Perspect 2003;111:1843-50.
13. Laine JP, Mocquet V, Bonfanti M, Braun C, Egly JM, Brousset P. Common XPD (ERCC2) polymorphisms have no measurable effect on nucleotide excision repair and basal transcription. DNA Repair 2007;6:1264-70.
14. Wang F, Chang D, Hu FL, Sui H, Han B, Li DD, et al. DNA repair gene XPD polymorphisms and cancer risk: a meta-analysis based on 56 case-control studies. Cancer Epidemiol Biomarkers Prev 2008;17:507-17.
15. Li Y, Marion MJ, Zipprich J, Santella RM, Freyer G, Brandt-Rauf PW. Gene-environment interactions between DNA repair polymorphisms and exposure to the carcinogen vinyl chloride. Biomarkers 2009;14:148-55.
16. Zhu SM, Xia ZL, Wang AH, Ren XF, Jiao J, Zhao NQ, et al. Polymorphisms and haplotypes of DNA repair and xenobiotic metabolism genes and risk of DNA damage in Chinese vinyl chloride monomer (VCM)-exposed workers. Toxicol Lett 2008;178:88-94.