Six polymorphisms in genes involved in DNA double-strand break repair and chromosome synapsis: Association with male infertility

Systems Biology in Reproductive Medicine

Volumn 61, Issue 4, 2015, Pages 187-193

  Zhang, Xiaohui ^a,b,c   Ding, Min ^a,b,c   Ding, Xianping ^a,b,c   Li, Tianjun ^a,b,c   Chen, Honghan ^a,b,c  

^a SICHUAN UNIVERSITY   (China)

^b Bio Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing   (China)

^c BEIJING UNIVERSITY OF POSTS AND TELECOMMUNICATIONS   (China)

Author keywords

Chromosome synapsis; DSB repair; Male infertility; SNPs

Indexed keywords

ADULT; ARTICLE; AZOOSPERMIA; CHINA; CHROMOSOME PAIRING; CHROMOSOME SYNAPSIS; CONTROLLED STUDY; DNA REPAIR; DOUBLE STRANDED DNA BREAK; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MLH1 GENE; MLH3 GENE; OLIGOSPERMIA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL ANALYSIS; TEX11 GENE; TEX15 GENE; DNA DAMAGE; GENETICS;

CHROMOSOME PAIRING; DNA DAMAGE; DNA REPAIR; HUMANS; INFERTILITY, MALE; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84936770175     PISSN: 19396368     EISSN: 19396376     Source Type: Journal    
DOI: 10.3109/19396368.2015.1027014     Document Type: Article

References (27)

1. Adelman, C.A. and Petrini, J.H. (2008) ZIP4H (TEX11) deficiency in the mouse impairs meiotic double strand break repair and the regulation of crossing over. PLoS Genet 4:e1000042.
2. Aparicio, T., Baer, R. and Gautier, J. (2014) DNA double-strand break repair pathway choice and cancer. DNA Repair 19:169-175.
3. Aston, K.I., Krausz, C., Laface, I., Ruiz-Castane, E. and Carrell, D.T. (2010) Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Hum Reprod 25:1383-1397.
4. Cannavo, E., Marra, G., Sabates-Bellver, J., Menigatti, M., Lipkin, S.M., Fischer, F., et al. (2005) Expression of the MutL homologue hMLH3 in human cells and its role in DNA mismatch repair. Cancer Res 65: 10759-10766.
5. Cooper, T.G., Noonan, E., Von Eckardstein, S., Auger, J., Baker, H.G., Behre, H.M., et al. (2010) World Health Organization reference values for human semen characteristics. Hum Reprod Update 16:231-245.
6. Ferlin, A., Arredi, B. and Foresta, C. (2006) Genetic causes of male infertility. Reprod Toxicol 22:133-141.
7. Ghorbel, M., Baklouti, S.G., Abdallah, F.B., Zribi, N., Cherif, M., Keskes, R., et al. (2012) Chromosomal defects in infertile men with poor semen quality. J Assist Reprod Gen 29:451-456.
8. Inagaki, A., Schoenmakers, S. and Baarends, W.M. (2010) DNA double strand break repair, chromosome synapsis and transcriptional silencing in meiosis. Epigenetics-US 5:255-266.
9. Koslowski, M., Sahin, U., Huber, C. and Türeci, Ö. (2006) The human X chromosome is enriched for germline genes expressed in premeiotic germ cells of both sexes. Hum Mol Genet 15:2392-2399.
10. La Volpe, A. and Barchi, M. (2012) Meiotic double strand breaks repair in sexually reproducing eukaryotes: we are not all equal. Exp Cell Res 318:1333-1339.
11. Li, G.-M. (2008) Mechanisms and functions of DNA mismatch repair. Cell Res 18:85-98.
12. Lipkin, S.M., Wang, V., Jacoby, R., Banerjee-Basu, S., Baxevanis, A.D., Lynch, H.T., et al. (2000) MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. Nat Genet 24: 27-35.
13. Martnez-Urueña, N., Macás, L., Pérez-Cabornero, L., Infante, M., Lastra, E., Cruz, J., et al. (2013) Incidence of 93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer. Colorectal Dis 15:e118-e123.
14. Mei, M., Liu, D., Dong, S., Ingvarsson, S., Goodfellow, P.J. and Chen, H. (2010) The MLH1 93 promoter variant influences gene expression. Cancer Epidemiol 34:93-95.
15. Mukherjee, S., Ridgeway, A. and Lamb, D.J. (2010) DNA mismatch repair and infertility. Curr Opin Urol 20:525-532.
16. Plaseski, T., Noveski, P., Popeska, Z., Efremov, G.D. and Plaseska-Karanfilska, D. (2012) Association Study of Single-Nucleotide Polymorphisms in FASLG, JMJDIA, LOC203413, TEX15, BRDT, OR2W3, INSR, and TAS2R38 Genes With Male Infertility. J Androl 33:675-683.
17. Ruan, J., He, X.-J., Du, W.-D., Chen, G., Zhou, Y., Xu, S., et al. (2012) Genetic Variants in TEX15 Gene Conferred Susceptibility to Spermatogenic Failure in the Chinese Han Population. Reprod Sci 19:1190-1196.
18. Santibanez Koref, M., Wilson, V., Cartwright, N., Cunnington, M.S., Mathers, J.C., Bishop, D.T., et al. (2010) MLH1 Differential allelic expression in mutation carriers and controls. Ann Hum Genet 74: 479-488.
19. Stouffs, K. and Lissens, W. (2012) X chromosomal mutations and spermatogenic failure. BBA-Mol Basis Dis 1822: 1864-1872.
20. Svetlanov, A. and Cohen, P.E. (2004) Mismatch repair proteins, meiosis, and mice: understanding the complexities of mammalian meiosis. Exp Cell Res 296:71-79.
21. Taylor, N.P., Powell, M.A., Gibb, R.K., Rader, J.S., Huettner, P.C., Thibodeau, S.N., et al. (2006) MLH3 mutation in endometrial cancer. Cancer Res 66:7502-7508.
22. Vogelsang, M., Wang, Y., Veber, N., Mwapagha, L.M. and Parker, M.I. (2012) The cumulative effects of polymorphisms in the DNA mismatch repair genes and tobacco smoking in oesophageal cancer risk. PloS one 7:e36962.
23. Wang, P.J. and Pan, J. (2007) The role of spermatogonially expressed germ cell-specific genes in mammalian meiosis. Chromosome Res 15: 623-632.
24. Xu, K., Lu, T., Zhou, H., Bai, L. and Xiang, Y. (2010) The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia. Clin Chim Acta 411:49-52.
25. Yang, F., Eckardt, S., Leu, N.A., McLaughlin, K.J. and Wang, P.J. (2008a) Mouse TEX15 is essential for DNA double-strand break repair and chromosomal synapsis during male meiosis. J Cell Biol 180:673-679.
26. Yang, F., Gell, K., van der Heijden, G.W., Eckardt, S., Leu, N.A., Page, D.C., et al. (2008b) Meiotic failure in male mice lacking an X-linked factor. Gene Dev 22:682-691.
27. Yu, Y.-H., Siao, F.-P., Hsu, L.C.-L. and Yen, P.H. (2012) TEX11 modulates germ cell proliferation by competing with estrogen receptor b for the binding to HPIP. Mol Endocrinol 26: 630-642.