The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia

Clinica Chimica Acta

Volumn 411, Issue 1-2, 2010, Pages 49-52

  Xu, Keqian ^a   Lu, Tingting ^a   Zhou, Hui ^b   Bai, Lihong ^c   Xiang, Yaoyun ^a  

^a Central South University   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Male infertility; MLH3; MSH5; Polymorphism

Indexed keywords

MISMATCH REPAIR PROTEIN; PROTEIN MLH3; PROTEIN MSH5; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AZOOSPERMIA; CHINESE; CONTROLLED STUDY; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MUTATIONAL ANALYSIS; OLIGOSPERMIA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS;

AZOOSPERMIA; BASE SEQUENCE; CARRIER PROTEINS; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; CHINA; DNA PRIMERS; HUMANS; INFERTILITY, MALE; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 70449531394     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.09.038     Document Type: Article

References (38)

1. Rucker G.B., Mielnik A., King P., Goldstein M., and Schlegel P.N. Preoperative screening for genetic abnormalities in men with nonobstructive azoospermia before testicular sperm extraction. J Urol 160 (1998) 2068-2071
2. Cram D.S., O'Bryan M.K., and de Kretser D.M. Male infertility genetics-the future. J Androl 22 (2001) 738-746
3. Nogués C., Fernández C., Rajmil O., and Templado C. Baseline expression profile of meiotic-specific genes in healthy fertile males. Fertil Steril 92 (2009) 578-582
4. Guichaoua M.R., Perrin J., Metzler-Guillemain C., Saias-Magnan J., Giorgi R., and Grillo J.M. Meiotic anomalies in infertile men with severe spermatogenic defects. Hum Reprod 20 (2005) 1897-1902
5. Cohen P.E., Pollack S.E., and Pollard J.W. Genetic analysis of chromosome pairing, recombination, and cell cycle control during first meiotic prophase in mammals. Endocr Rev 27 (2006) 398-426
6. Krausz C. Polymorphisms and male infertility. In: Carrell D.T. (Ed). The genetics of male infertility (2007), Humana Press 275-289
7. Tüttelmann F., Rajpert-De Meyts E., Nieschlag E., and Simoni M. Gene polymorphisms and male infertility: a meta-analysis and literature review. Reprod Biomed Online 15 (2007) 643-658
8. Her C., Zhao N., Wu X., and Tompkins J.D. MutS homologues hMSH4 and hMSH5: diverse functional implications in humans. Front Biosci 12 (2007) 905-911
9. Ross-Macdonald P., and Roeder G.S. Mutation of a meiosis-specific MutS homolog decreases crossing over but not mismatch correction. Cell 79 (1994) 1069-1080
10. Hollingsworth N.M., Ponte L., and Halsey C. MSH5, a novel MutS homolog, facilitates meiotic reciprocal recombination between homologs in Saccharomyces cerevisiae but not mismatch repair. Genes Dev 9 (1995) 1728-1739
11. Zalevsky J., MacQueen A.J., Duffy J.B., Kemphues K.J., and Villeneuve A.M. Crossing over during Caenorhabditis elegans meiosis requires a conserved MutS-based pathway that is partially dispensable in budding yeast. Genetics 153 (1999) 1271-1283
12. Kelly K.O., Dernburg A.F., Stanfield G.M., and Villeneuve A.M. Caenorhabditis elegans msh-5 is required for both normal and radiation-induced meiotic crossing over but not for completion of meiosis. Genetics 156 (2000) 617-630
13. Edelmann W., Cohen P.E., Kneitz B., et al. Mammalian MutS homologue 5 is required for chromosome pairing in meiosis. Nat Genet 21 (1999) 123-127
14. de Vries S.S., Baart E.B., Dekker M., et al. Mouse MutS-like protein Msh5 is required for proper chromosome synapsis in male and female meiosis. Genes Dev 13 (1999) 523-531
15. Kneitz B., Cohen P.E., Avdievich E., et al. MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice. Genes Dev 14 (2000) 1085-1097
16. Snowden T., Acharya S., Butz C., Berardini M., and Fishel R. hMSH4-hMSH5 recognizes Holliday junctions and forms a meiosis-specific sliding clamp that embraces homologous chromosomes. Mol Cell 15 (2004) 437-451
17. Svetlanov A., and Cohen P.E. Mismatch repair proteins, meiosis, and mice: understanding the complexities of mammalian meiosis. Exp Cell Res 296 (2004) 71-79
18. Hienonen T., Laiho P., Salovaara R., et al. Little evidence for involvement of MLH3 in colorectal cancer predisposition. Int J Cancer 106 (2003) 292-296
19. Korhonen M.K., Raevaara T.E., Lohi H., and Nyström M. Conditional nuclear localization of hMLH3 suggests a minor activity in mismatch repair and supports its role as a low-risk gene in HNPCC. Oncol Rep 17 (2007) 351-354
20. Lipkin S.M., Moens P.B., Wang V., et al. Meiotic arrest and aneuploidy in MLH3-deficient mice. Nat Genet 31 (2002) 385-390
21. Ferrás C., Zhou X.L., Sousa M., Lindblom A., and Barros A. DNA mismatch repair gene hMLH3 variants in meiotic arrest. Fertil Steril 88 (2007) 1681-1684
22. Simoni M., Bakker E., Eurlings M.C., et al. Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl 22 (1999) 292-299
23. Ye S., Dhillon S., Ke X., Collins A.R., and Day I.N. An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res 29 (2001) E88-8
24. Her C., and Doggett N.A. Cloning, structural characterization, and chromosomal localization of the human orthologue of Saccharomyces cerevisiae Msh5 gene. Genomics 52 (1998) 50-61
25. Winand N.J., Panzer J.A., and Kolodner R.D. Cloning and characterization of the human and Caenorhabditis elegans homologs of the Saccharomyces cerevisiae MSH5 gene. Genomics 53 (1998) 69-80
26. Yi W., Wu X., Lee T.H., Doggett N.A., and Her C. Two variants of MutS homolog hMSH5: prevalence in humans and effects on protein interaction. Biochem Biophys Res Comm 332 (2005) 524-532
27. Tompkins J.D., Wu X., Chu Y.L., and Her C. Evidence for a direct involvement of hMSH5 in promoting ionizing radiation induced apoptosis. Exp Cell Res 315 (2009) 2420-2432
28. Lipkin S.M., Wang V., Jacoby R., et al. MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. Nat Genet 24 (2000) 27-35
29. Taylor N.P., Powell M.A., Gibb R.K., et al. MLH3 mutation in endometrial cancer. Cancer Res 66 (2006) 7502-7508
30. Ng P.C., and Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 11 (2001) 863-874
31. Kunkel T.A., and Erie D.A. DNA mismatch repair. Annu Rev Biochem 74 (2005) 681-710
32. Iyer R.R., Pluciennik A., Burdett V., and Modrich P.L. DNA mismatch repair: functions and mechanisms. Chem Rev 106 (2006) 302-323
33. Jiricny J. The multifaceted mismatch-repair system. Nature Rev Mol Cell Biol 7 (2006) 335-346
34. Whitby M.C. Making crossovers during meiosis. Biochem Soc Trans 33 (2005) 1451-1455
35. Woods L.M., Hodges C.A., Baart E., Baker S.M., Liskay M., and Hunt P.A. Chromosomal influence on meiotic spindle assembly: abnormal meiosis I in female Mlh1 mutant mice. J Cell Biol 145 (1999) 1395-1406
36. Santucci-Darmanin S., Neyton S., Lespinasse F., Saunières A., Gaudray P., and Paquis-Flucklinger V. The DNA mismatch-repair MLH3 protein interacts with MSH4 in meiotic cells, supporting a role for this MutL homolog in mammalian meiotic recombination. Hum Mol Genet 11 (2002) 1697-1706
37. Argueso J.L., Wanat J., Gemici Z., and Alani E. Competing crossover pathways act during meiosis in Saccharomyces cerevisiae. Genetics 168 (2004) 1805-1816
38. Nishant K.T., Plys A.J., and Alani E. A mutation in the putative MLH3 endonuclease domain confers a defect in both mismatch repair and meiosis in Saccharomyces cerevisiae. Genetics 179 (2008) 747-755