Polymorphisms in double-strand breaks repair genes are associated with impaired fertility in Chinese population

Reproduction

Volumn 145, Issue 5, 2013, Pages 463-470

  Ji, Guixiang ^a   Yan, Lifeng ^b   Liu, Wei ^b   Huang, Cong ^b   Gu, Aihua ^b   Wang, Xinru ^b  

^a NANJING INSTITUTE OF ENVIRONMENTAL SCIENCES   (China)

^b NANJING MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; BRCA2 PROTEIN; DNA; LIGASE 4; PROTEIN; RAG1 PROTEIN; UNCLASSIFIED DRUG; X RAY REPAIR CROSS COMPLEMENTING GROUP 2 PROTEIN; X RAY REPAIR CROSS COMPLEMENTING GROUP 5 PROTEIN; XRCC3 PROTEIN; XRCC4 PROTEIN;

ADULT; ALLELE; ARTICLE; CHINESE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA FRAGMENTATION; DNA REPAIR; DOUBLE STRANDED DNA BREAK; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; NICK END LABELING; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPERM;

ADULT; ALLELES; AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; CHINA; DNA BREAKS, DOUBLE-STRANDED; DNA FRAGMENTATION; DNA LIGASES; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; IN SITU NICK-END LABELING; INFERTILITY, MALE; LOGISTIC MODELS; MALE; OLIGOSPERMIA; POLYMORPHISM, SINGLE NUCLEOTIDE; SPERMATOZOA; YOUNG ADULT;

EID: 84877250730     PISSN: 14701626     EISSN: 17417899     Source Type: Journal    
DOI: 10.1530/REP-12-0370     Document Type: Article

References (55)

1. Abe T, Ishiai M, Hosono Y, Yoshimura A, Tada S, Adachi N, Koyama H, Takata M, Takeda S, Enomoto T et al. 2008 KU70/80, DNA-PKcs, and Artemis are essential for the rapid induction of apoptosis after massive DSB formation. Cellular Signalling 20 1978-1985. (doi:10.1016/j. cellsig.2008.07.006)
2. Agarwal A & Said TM 2003 Role of sperm chromatin abnormalities and DNA damage in male infertility. Human Reproduction Update 9 331-345. (doi:10.1093/humupd/dmg027)
3. Arbuckle JL, Fauss LA, Simpson R, Ptaszek LM & Rodgers KK 2001 Identification of two topologically independent domains in RAG1 and their role in macromolecular interactions relevant to V(D)J recombination. Journal of Biological Chemistry 276 37093-37101. (doi:10.1074/jbc.M105988200)
4. Auranen A, Song H, Waterfall C, Dicioccio RA, Kuschel B, Kjaer SK, Hogdall E, Hogdall C, Stratton J, Whittemore AS et al. 2005 Polymorphisms in DNA repair genes and epithelial ovarian cancer risk. International Journal of Cancer 117 611-618. (doi:10.1002/ijc.21047)
5. Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S & Nezarati MM 2005 A patient with mutations in DNA ligase IV: clinical features and overlap with Nijmegen breakage syndrome. American Journal of Medical Genetics. Part A 137A 283-287. (doi:10.1002/ajmg.a.30869)
6. Borini A, Tarozzi N, Bizzaro D, Bonu MA, Fava L, Flamigni C & Coticchio G 2006 Sperm DNA fragmentation: paternal effect on early postimplantation embryo development in ART. Human Reproduction 21 2876-2881. (doi:10.1093/humrep/del251)
7. Caglar GS, Koster F, Schopper B, Asimakopoulos B, Nehls B, Nikolettos N, Diedrich K & Al-Hasani S 2007 Semen DNA fragmentation index, evaluated with both TUNEL and Comet assay, and the ICSI outcome. In Vivo 21 1075-1080.
8. Chen T, Dong B, Lu Z, Tian B, Zhang J, Zhou J, Wu H, Zhang Y, Wu J, Lin P et al. 2010 A functional single nucleotide polymorphism in promoter of ATM is associated with longevity. Mechanisms of Ageing and Development 131 636-640. (doi:10.1016/j.mad.2010.08.009)
9. Cibeira MT, de Larrea CF, Navarro A, Diaz T, Fuster D, Tovar N, Rosinol L, Monzo M & Blade J 2011 Impact on response and survival of DNA repair single nucleotide polymorphisms in relapsed or refractory multiple myeloma patients treated with thalidomide. Leukemia Research 35 1178-1183. (doi:10.1016/j.leukres.2011.02.009)
10. Cohen-Bacrie P, Belloc S, Menezo YJ, Clement P, Hamidi J & Benkhalifa M 2009 Correlation between DNA damage and sperm parameters: a prospective study of 1,633 patients. Fertility and Sterility 91 1801-1805. (doi:10.1016/j. fertnstert.2008.01.086)
11. De Kretser DM & Baker HW 1999 Infertility in men: recent advances and continuing controversies. Journal of Clinical Endocrinology and Metabolism 84 3443-3450. (doi:10.1210/jc.84.10.3443)
12. Dore AS, Furnham N, Davies OR, Sibanda BL, Chirgadze DY, Jackson SP, Pellegrini L & Blundell TL 2006 Structure of an Xrcc4-DNA ligase IV yeast ortholog complex reveals a novel BRCT interaction mode. DNA Repair 5 362-368. (doi:10.1016/j.dnarep.2005.11.004)
13. Dresser ME 2000 Meiotic chromosome behavior in Saccharomyces cerevisiae and (mostly) mammals. Mutation Research 451 107-127. (doi:10.1016/S0027-5107(00) 00043-9)
14. Esteves SC, Miyaoka R & Agarwal A 2011 An update on the clinical assessment of the infertile male. Clinics 66 691-700. (doi:10.1590/S1807- 59322011000400026)
15. Fachal L, Gomez-Caamano A, Peleteiro P, Carballo A, Calvo-Crespo P, Sanchez-Garcia M, Lobato-Busto R, Carracedo A & Vega A 2012 Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients. Radiotherapy and Oncology 105 321-328. (doi:10.1016/j. radonc.2012.09.013)
16. Figueroa JD, Malats N, Rothman N, Real FX, Silverman D, Kogevinas M, Chanock S, Yeager M, Welch R, Dosemeci M et al. 2007 Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk. Carcinogenesis 28 1788-1793. (doi:10.1093/carcin/bgm132)
17. Gellert M, Hesse JE, Hiom K, Melek M, Modesti M, Paull TT, Ramsden DA & van Gent DC 1999 V(D)J recombination: links to transposition and double-strand break repair. Cold Spring Harbor Symposia on Quantitative Biology 64 161-167. (doi:10.1101/sqb.1999.64.161)
18. van Gent DC, Hoeijmakers JH & Kanaar R 2001 Chromosomal stability and the DNA double-stranded break connection. Nature Reviews. Genetics 2 196-206. (doi:10.1038/35056049)
19. Girard PM, Kysela B, Harer CJ, Doherty AJ & Jeggo PA 2004 Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms. Human Molecular Genetics 13 2369-2376. (doi:10.1093/hmg/ddh274)
20. Grawunder U, Wilm M, Wu X, Kulesza P, Wilson TE, Mann M & Lieber MR 1997 Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. Nature 388 492-495. (doi:10.1038/41358)
21. Grawunder U, Zimmer D & Leiber MR 1998 DNA ligaseIV binds to XRCC4 via a motif located between rather than within its BRCT domains. Current Biology 8 873-876. (doi:10.1016/S0960-9822(07)00349-1)
22. Han J, Colditz GA, Samson LD & Hunter DJ 2004 Polymorphisms in DNA double-strand break repair genes and skin cancer risk. Cancer Research 64 3009-3013. (doi:10.1158/0008-5472.CAN-04-0246)
23. Hill DA, Wang SS, Cerhan JR, Davis S, Cozen W, Severson RK, Hartge P, Wacholder S, Yeager M, Chanock SJ et al. 2006 Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes. Blood 108 3161-3167. (doi:10.1182/blood-2005-01-026690)
24. Ji BT, Shu XO, Linet MS, Zheng W, Wacholder S, Gao YT, Ying DM & Jin F 1997 Paternal cigarette smoking and the risk of childhood cancer among offspring of nonsmoking mothers. Journal of the National Cancer Institute 89 238-244. (doi:10.1093/jnci/89.3.238)
25. Ji G, Gu A, Wang Y, Huang C, Hu F, Zhou Y, Song L & Wang X 2012 Genetic variants in antioxidant genes are associated with sperm DNA damage and risk of male infertility in a Chinese population. Free Radical Biology & Medicine 52 775-780. (doi:10.1016/j.freeradbiomed.2011.11.032)
26. Kale SB, Landree MA & Roth DB 2001 Conditional RAG-1 mutants block the hairpin formation step of V(D)J recombination. Molecular and Cellular Biology 21 459-466. (doi:10.1128/MCB.21.2.459-466.2001)
27. Karran P 2000 DNA double strand break repair in mammalian cells. Current Opinion in Genetics & Development 10 144-150. (doi:10.1016/S0959-437X(00) 00069-1)
28. Khanna KK & Jackson SP 2001 DNA double-strand breaks: signaling, repair and the cancer connection. Nature Genetics 27 247-254. (doi:10.1038/85798)
29. Lee JH & Paull TT 2005 ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex. Science 308 551-554. (doi:10.1126/science. 1108297)
30. Lewis SE & Aitken RJ 2005 DNA damage to spermatozoa has impacts on fertilization and pregnancy. Cell and Tissue Research 322 33-41. (doi:10.1007/s00441-005-1097-5)
31. Lieber MR 2010 The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway. Annual Review of Biochemistry 79 181-211. (doi:10.1146/annurev.biochem.052308.093131)
32. Liu Y, Zhang H, Zhou K, Chen L, Xu Z, Zhong Y, Liu H, Li R, Shugart YY, Wei Q et al. 2007 Tagging SNPs in non-homologous end-joining pathway genes and risk of glioma. Carcinogenesis 28 1906-1913. (doi:10.1093/carcin/bgm073)
33. Lu C, Zhang J, Li Y, Xia Y, Zhang F, Wu B, Wu W, Ji G, Gu A, Wang S et al. 2009 The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Human Molecular Genetics 18 1122-1130. (doi:10.1093/hmg/ ddn427)
34. Lu JC, Huang YF & Lu NQ 2010 WHO Laboratory Manual for the Examination and Processing of Human Semen: its applicability to andrology laboratories in China. Zhonghua Nan Ke Xue 16 867-871.
35. McBlane JF, van Gent DC, Ramsden DA, Romeo C, Cuomo CA, Gellert M & Oettinger MA 1995 Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps. Cell 83 387-395. (doi:10.1016/0092- 8674(95)90116-7)
36. Mittal RD, Gangwar R, Mandal RK, Srivastava P & Ahirwar DK 2012 Gene variants of XRCC4 and XRCC3 and their association with risk for urothelial bladder cancer. Molecular Biology Reports 39 1667-1675. (doi:10.1007/s11033-011- 0906-z)
37. Mo X, Bailin T & Sadofsky MJ 2001 A C-terminal region of RAG1 contacts the coding DNA during V(D)J recombination. Molecular and Cellular Biology 21 2038-2047. (doi:10.1128/MCB.21.6.2038-2047.2001)
38. Mohindra A, Hays LE, Phillips EN, Preston BD, Helleday T & Meuth M 2002 Defects in homologous recombination repair in mismatch-repair-deficient tumour cell lines. Human Molecular Genetics 11 2189-2200. (doi:10.1093/hmg/11. 18.2189)
39. Muratori M, Forti G & Baldi E 2008 Comparing flow cytometry and fluorescence microscopy for analyzing human sperm DNA fragmentation by TUNEL labeling. Cytometry. Part A 73 785-787. (doi:10.1002/cyto.a.20615)
40. O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J et al. 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Molecular Cell 8 1175-1185. (doi:10.1016/S1097-2765(01)00408-7)
41. Olive PL, Wlodek D & Banath JP 1991 DNA double-strand breaks measured in individual cells subjected to gel electrophoresis. Cancer Research 51 4671-4676.
42. Rajasekaran R, Doss GP, Sudandiradoss C, Ramanathan K, Rituraj P & Sethumadhavan R 2008 Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene. Sheng Wu Gong Cheng Xue Bao 24 851-856. (doi:10.1016/S1872-2075 (08)60042-4)
43. Robins P & Lindahl T 1996 DNA ligase IV from HeLa cell nuclei. Journal of Biological Chemistry 271 24257-24261. (doi:10.1074/jbc.271.39. 24257)
44. Roddam PL, Rollinson S, O'Driscoll M, Jeggo PA, Jack A & Morgan GJ 2002 Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination. Journal of Medical Genetics 39 900-905. (doi:10.1136/jmg.39.12.900)
45. Sakkas D, Mariethoz E, Manicardi G, Bizzaro D, Bianchi PG & Bianchi U 1999 Origin of DNA damage in ejaculated human spermatozoa. Reviews of Reproduction 4 31-37. (doi:10.1530/ror.0.0040031)
46. San Filippo J, Sung P & Klein H 2008 Mechanism of eukaryotic homologous recombination. Annual Review of Biochemistry 77 229-257. (doi:10.1146/annurev.biochem.77.061306.125255)
47. Sergerie M, Ouhilal S, Bissonnette F, Brodeur J & Bleau G 2000 Lack of association between smoking and DNA fragmentation in the spermatozoa of normal men. Human Reproduction 15 1314-1321. (doi:10.1093/humrep/15.6.1314)
48. Thacker J & Zdzienicka MZ 2004 The XRCC genes: expanding roles in DNA double-strand break repair. DNA Repair 3 1081-1090. (doi:10.1016/j. dnarep.2004.04.012)
49. Tseng RC, Hsieh FJ, Shih CM, Hsu HS, Chen CY & Wang YC 2009 Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end-joining pathway genes: a multiple genotype-phenotype study. Cancer 115 2939-2948. (doi:10.1002/cncr.24327)
50. Venkitaraman AR 2002 Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 108 171-182. (doi:10.1016/S0092-8674(02)00615-3)
51. Wei YF, Robins P, Carter K, Caldecott K, Pappin DJ, Yu GL, Wang RP, Shell BK, Nash RA, Schar Pet al. 1995 Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination. Molecular and Cellular Biology 15 3206-3216.
52. Wu X, Gu J, Grossman HB, Amos CI, Etzel C, Huang M, Zhang Q, Millikan RE, Lerner S, Dinney CP et al. 2006 Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. American Journal of Human Genetics 78 464-479. (doi:10.1086/500848)
53. Wu B, Lu NX, Xia YK, Gu AH, Lu CC, Wang W, Song L, Wang SL, Shen HB & Wang XR 2007 A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population. Human Reproduction 22 1107-1113. (doi:10.1093/humrep/del499)
54. Yin M, Liao Z, Liu Z, Wang LE, O'Reilly M, Gomez D, Li M, Komaki R & Wei Q 2012 Genetic variants of the nonhomologous end joining gene LIG4 and severe radiation pneumonitis in nonsmall cell lung cancer patients treated with definitive radiotherapy. Cancer 118 528-535. (doi:10.1002/cncr.26214)
55. Zha S, Alt FW, Cheng HL, Brush JW & Li G 2007 Defective DNA repair and increased genomic instability in Cernunnos-XLF-deficient murine ES cells. PNAS 104 4518-4523. (doi:10.1073/pnas.0611734104)