Polymorphisms of nucleotide-excision repair genes may contribute to sperm DNA fragmentation and male infertility

Reproductive BioMedicine Online

Volumn 21, Issue 5, 2010, Pages 602-609

  Gu, Aihua ^a   Ji, Guixiang ^a   Zhou, Yong ^b   Long, Yan ^a   Shi, Xiangguo ^a   Fu, Guangbo ^a   Wang, Shoulin ^a   Song, Ling ^a   Wang, Xinru ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

male infertility; nucleotide excision repair (NER); polymorphisms; sperm DNA damage; xeroderma pigmentosum group A gene (XPA)

Indexed keywords

DNA; GLYCINE; LUCIFERASE; LYSINE; SERINE;

ADULT; ALLELE; ARTICLE; CASE STUDY; CONTROLLED STUDY; DNA DAMAGE; DNA FRAGMENTATION; DNA POLYMORPHISM; EXCISION REPAIR; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; NICK END LABELING; POLYMERASE CHAIN REACTION; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; SPERM; SPERMATOZOON DENSITY;

ADULT; DNA DAMAGE; DNA REPAIR; DNA-BINDING PROTEINS; ENDONUCLEASES; HUMANS; INFERTILITY, MALE; MALE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROMOTER REGIONS, GENETIC; XERODERMA PIGMENTOSUM GROUP A PROTEIN; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 78049483750     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.rbmo.2010.06.025     Document Type: Article

References (45)

1. A. Agarwal, and T.M. Said Role of sperm chromatin abnormalities and DNA damage in male infertility Hum. Reprod. Update 9 2003 331 345
2. S.I. Berndt, E.A. Platz, M.D. Fallin, L.W. Thuita, S.C. Hoffman, and K.J. Helzlsouer Genetic variation in the nucleotide excision repair pathway and colorectal cancer risk Cancer Epidemiol. Biomarkers Prev. 2006 2263 2269
3. Bland, M., 2000. An Introduction to Medical Statistics. Oxford University Press, London, pp. 73-279-81.
4. A. Borini, N. Tarozzi, and D. Bizzaro Sperm DNA fragmentation: paternal effect on early post-implantation embryo development in ART Hum. Reprod. 2006 2876 2881
5. D. Butkiewicz, M. Rusin, C.C. Harris, and M. Chorazy Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population Hum. Mutat. 2000 577 578
6. D. Butkiewicz, O. Popanda, and A. Risch Association between the risk for lung adenocarcinoma and a (-4) G-to-A polymorphism in the XPA gene Cancer Epidemiol. Biomarkers Prev. 2004 2242 2246
7. P. Cohen-Bacrie, S. Belloc, Y.J. Menezo, P. Clement, J. Hamidi, and M. Benkhalifa Correlation between DNA damage and sperm parameters: a prospective study of 1,633 patients Fertil. Steril. 2009 1801 1805
8. K. De Ruyck, M. Szaumkessel, and I. De Rudder Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk Mutat. Res. 2007 101 110
9. G.R. Dohle, G.M. Colpi, T.B. Hargreave, G.K. Papp, A. Jungwirth, and W. Weidner EAU guidelines on male infertility Eur. Urol. 2005 703 711
10. H.M. Fisher, and R.J. Aitken Comparative analysis of the ability of precursor germ cells and epididymal spermatozoa to generate reactive oxygen metabolites J. Exp. Zool. 1997 390 400
11. G. Forti, and C. Krausz Clinical review 100: evaluation and treatment of the infertile couple J. Clin. Endocrinol. Metab. 1998 4177 4188
12. E. Greco, M. Iacobelli, L. Rienzi, F. Ubaldi, S. Ferrero, and J. Tesarik Reduction of the incidence of sperm DNA fragmentation by oral antioxidant treatment J. Androl. 2005 349 353
13. A. Gu, G. Ji, and J. Liang DNA repair gene XRCC1 and XPD polymorphisms and the risk of idiopathic azoospermia in a Chinese population Int. J. Mol. Med. 2007 743 747
14. D.S. Guzick, J.W. Overstreet, and P. Factor-Litvak Sperm morphology, motility, and concentration in fertile and infertile men N. Engl. J. Med. 2001 1388 1393
15. B. Hao, X. Miao, and Y. Li A novel T-77C polymorphism in DNA repair gene XRCC1 contributes to diminished promoter activity and increased risk of non-small cell lung cancer Oncogene 2006 3613 3620
16. S. Horak, J. Polanska, and P. Widlak Bulky DNA adducts in human sperm: relationship with fertility, semen quality, smoking, and environmental factors Mutat. Res. 2003 53 65
17. S. Horak, A. Olejek, and P. Widlak Sperm DNA adducts impair fertilization during ICSI but not during IVF Folia Histochem. Cytobiol. Suppl. 1 2007 S99 S104
18. K.T. Hsia, M.R. Millar, and S. King DNA repair gene Ercc1 is essential for normal spermatogenesis and oogenesis and for functional integrity of germ cell DNA in the mouse Development 2003 369 378
19. J.J. Hu, M.C. Hall, and L. Grossman Deficient nucleotide excision repair capacity enhances human prostate cancer risk Cancer Res. 2004 1197 1201
20. B.T. Ji, X.O. Shu, and M.S. Linet Paternal cigarette smoking and the risk of childhood cancer among offspring of nonsmoking mothers J. Natl. Cancer Inst. 1997 238 244
21. G. Ji, A. Gu, and Y. Xia ERCC1 and ERCC2 polymorphisms and risk of idiopathic azoospermia in a Chinese population Reprod. Biomed. Online 2008 36 41
22. H.J. Kang, Z. Feng, and Y. Sun Single-nucleotide polymorphisms in the p53 pathway regulate fertility in humans Proc. Natl. Acad. Sci. USA 2009 9761 9766
23. M. Kozak Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes Cell 1986 283 292
24. S.E. Lewis, and R.J. Aitken DNA damage to spermatozoa has impacts on fertilization and pregnancy Cell Tissue Res. 2005 33 41
25. J. Liang, A. Gu, and Y. Xia XPC gene polymorphisms and risk of idiopathic azoospermia or oligozoospermia in a Chinese population Int. J. Androl. 2009 235 241
26. C. Lin, E. Tholen, D. Jennen, S. Ponsuksili, K. Schellander, and K. Wimmers Evidence for effects of testis and epididymis expressed genes on sperm quality and boar fertility traits Reprod. Domest. Anim. 2006 538 543
27. F. Marchetti, and A.J. Wyrobek DNA repair decline during mouse spermiogenesis results in the accumulation of heritable DNA damage DNA Repair (Amst.) 2008 572 581
28. M. Monzo, I. Moreno, and A. Navarro 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 2007 364 370
29. F. Morle, J. Starck, and J. Godet Alpha-thalassemia due to the deletion of nucleotides -2 and -3 preceding the AUG initiation codon affects translation efficiency both in vitro and in vivo Nucleic Acids Res. 1986 3279 3292
30. H. Nakane, S. Hirota, and P.J. Brooks Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice DNA Repair (Amst.) 2008 1938 1950
31. J.Y. Park, S.H. Park, and J.E. Choi Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of primary lung cancer Cancer Epidemiol. Biomarkers Prev. 10 Pt. 1 2002 993 997
32. C. Paul, D.W. Melton, and P.T. Saunders Do heat stress and deficits in DNA repair pathways have a negative impact on male fertility? Mol. Hum. Reprod. 2008 1 8
33. P.D. Pharoah, A.C. Antoniou, D.F. Easton, and B.A. Ponder Polygenes, risk prediction, and targeted prevention of breast cancer N. Engl. J. Med. 2008 2796 2803
34. F.M. Richards, D.R. Goudie, and W.N. Cooper Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes Hum. Genet. 1997 317 322
35. M. Sergerie, S. Ouhilal, F. Bissonnette, J. Brodeur, and G. Bleau Lack of association between smoking and DNA fragmentation in the spermatozoa of normal men Hum. Reprod. 2000 1314 1321
36. J. Shen, M. Desai, and M. Agrawal Polymorphisms in nucleotide excision repair genes and DNA repair capacity phenotype in sisters discordant for breast cancer Cancer Epidemiol. Biomarkers Prev. 2006 1614 1619
37. M.R. Spitz, X. Wu, and Y. Wang Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients Cancer Res. 2001 1354 1357
38. P.S. Tsai, M. Nielen, G.T. van der Horst, B. Colenbrander, J.A. Heesterbeek, and J.M. van Vlissingen The effect of DNA repair defects on reproductive performance in nucleotide excision repair (NER) mouse models: an epidemiological approach Transgenic Res. 2005 845 857
39. F. Tuttelmann, E. Rajpert-De Meyts, E. Nieschlag, and M. Simoni Gene polymorphisms and male infertility - a meta-analysis and literature review Reprod. Biomed. Online 2007 643 658
40. P. Vodicka, R. Kumar, and R. Stetina Genetic polymorphisms in DNA repair genes and possible links with DNA repair rates, chromosomal aberrations and single-strand breaks in DNA Carcinogenesis 2004 757 763
41. WHO, 2004. Manual for the Standardized Investigation, Diagnosis and Management of the Infertile Male. Cambridge University Press, pp. 25-26.
42. X. Wu, H. Zhao, and Q. Wei XPA polymorphism associated with reduced lung cancer risk and a modulating effect on nucleotide excision repair capacity Carcinogenesis 2003 505 509
43. B. Xie, H. Shi, Q. Chen, and C.T. Ho Antioxidant properties of fractions and polyphenol constituents from green, oolong and black teas Proc. Natl. Sci. Counc. Repub. China B 1993 77 84
44. G. Xu, G. Spivak, and D.L. Mitchell Nucleotide excision repair activity varies among murine spermatogenic cell types Biol. Reprod. 2005 123 130
45. A. Zini, and J. Libman Sperm DNA damage: clinical significance in the era of assisted reproduction CMAJ 2006 495 500