Volume 10, Issue 4 (8-2012)                   IJRM 2012, 10(4): 329-336 | Back to browse issues page

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Siasi E, Aleyasin A, Mowla J, Sahebkashaf H. Association study of six SNPs in PRM1, PRM2 and TNP2 genes in iranian infertile men with idiopathic azoospermia. IJRM 2012; 10 (4) :329-336
URL: http://ijrm.ir/article-1-298-en.html
Association study of six SNPs in PRM1, PRM2 and TNP2 genes in iranian infertile men with idiopathic azoospermia
Elham Siasi * 1, Ahmad Aleyasin2 , Javad Mowla3 , Hamid Sahebkashaf4
1- Department of Genetic, Tarbiat Modares University, Tehran, Iran , emi_biotech2006@yahoo.ca
2- National Institute for Genetic Engineering and Biotechnology, Tehran, Iran
3- Department of Genetic, Tarbiat Modares University, Tehran, Iran
4- Navide Institute of Infertility, Tehran, Iran
Abstract:   (3215 Views)
Background: Histones are replaced by protamines to condensate and package DNA into the sperm head during mammalian spermatogenesis. Protamine genes defects have been reported to cause sperm DNA damage and male infertility.
Objective: In this study relationship among some protamines genes family SNPs include PRM1 (C321A), PRM2 (C248T) and TNP2 (T1019C), (G1272C), (G del in 1036 and 1046 bp) were studied in 96 idiopathic infertile men with azoospermia or oligospermia and 100 normal control men.
Materials and Methods: Analysis of SNPs was performed using restriction fragment length polymorphism (PCR-RFLP), single strand conformational polymorphism (PCR-SSCP) and PCR sequencing.
Results: No polymorphisms were found for tested SNPs except for PRM1 (C321A) and TNP2 (G1272C) in which frequency of altered AA and GG genotypes were slightly higher in infertile case group. Statistical analysis showed no significant association related to PRM1 (C321A) p=0.805 and TNP2 (G1272C) loci p=0.654.
Conclusion: These results are consistent with previous studies and indicating that all tested SNPs was not associated with oligospermia and azospermia and idiopatic male infertility in Iranian population.
Keywords: Male infertility, SNP, PRM1gene, PRM2 gene, TNP2 gene
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Type of Study: Original Article |
References
1. Iguchi N, Yang S, Lamb DJ, Hecht NB. An SNP in protamine 1: a possible genetic cause of male infertility? J Med Genet 2006; 43: 382-384. [DOI:10.1136/jmg.2005.037168]
2. Miyagawa Y, Nishimura H, Tsujimura A, Matsuoka Y, Matsumiya K, Okuyama A, et al. Single-nucleotide polymorphisms and mutation analyses of the TNP1 and TNP2 genes of fertile and infertile human male populations. J Andrology 2005; 26: 779-786. [DOI:10.2164/jandrol.05069]
3. Salamlan A, Ghaedi K, Razavi Sh, Tavalaee M, Tanhael S, Tavalaee M, et al. Single nucleotide polymorphism analysis of protamine genes in infertile men. Int J Fertil Steril 2008; 2: 13-18.
4. Tanaka H, Miyagawa Y, Tsujimura A, Matsumiya K, Okuyama A, Nishimune Y. Single nucleotide polymorphisms in the protamine-1 and -2 genes of fertile and infertile human male populations. Mol Hum Reprod 2003; 9: 69-73. [DOI:10.1093/molehr/gag010]
5. Cho C, Willis WD, Goulding EH, Jung-Ha H, Choi YC, Hecht NB. Haploinsufficiency of protamine-1 or -2 causes infertility in mice. Nature Genetics 2001; 28: 82-86. [DOI:10.1038/ng0501-82]
6. De Yebra L, Ballesca JL, Vanrell JA, Bassas L, Oliva R. Complete selective absence of protamine P2 in human. J Biol Chem 1993; 268: 10553-10557.
7. Balhorn R, Cosman M, Thornton K. The Male Gamete: From Basic Science to Clinical Applications. Balhorn R, Cosman M, Thornton K, Krishnan VV, Corzett M, Bench G, et al. Protamine mediated condensation of DNA in mammalian sperm. Anatomical Sciences Publications. Cache River Press; 1999.
8. Corzett M, Mazrimas J, Balhorn R. Protamine 1; protamine 2 stoichiometry in the sperm of eutherian mammals. Mol Reprod Dev 2002; 61: 519-527. [DOI:10.1002/mrd.10105]
9. Imken L, Rouba H, EI Houate B, Louanjli N, Barakat A, Chafik A, et al. Mutations in the protamine locus: association with spermatogenic failure? Mol Hum Reprod 2009; 7: 1-22. [DOI:10.1093/molehr/gap056]
10. Nelson JE, Krawetz SA. Characterization of a human locus in transition. J Biol Chem 1994; 369: 348-352.
11. Oliva R. Protamines and male infertility. Hum Reprod Update 2006; 12: 417-435. [DOI:10.1093/humupd/dml009]
12. Aoki VW, Emery BR, Lui L, Carrell DT. Protamine levels vary between individual sperm cells of infertile human males and correlate with viability and DNA integrity. J Androl 2006; 27: 890-898. [DOI:10.2164/jandrol.106.000703]
13. Balhorn R, weston S, Thomas C. DNA packaging in mouse spermatids. Synthesis of protamine variant and four transition proteins. Exp Cell Res 1984; 150: 298-308. [DOI:10.1016/0014-4827(84)90572-X]
14. Kempisty B, Depa-Martynow M, Lianeri M, Jedrzejczak P, Darul-Wasowicz A, Jagodzinski PP. Evaluation of protamines 1 and 2 transcript contents in spermatozoa from asthenozoospermic men. Folia Histochemica et cytobiologica 2007; 45: 109-113.
15. Sassone-Corsi P. Unique chromatin remodeling and transcriptional regulation in spermatogenesis. Science 2002; 296: 2176-2178. [DOI:10.1126/science.1070963]
16. Steger K, Pauls K, Klonisch T, Frank FE, bergmann M. expression of protamine-1 and -2 mRNA durin human spermiogenesis. Mol Hum Reprod 2000; 6: 219-225. [DOI:10.1093/molehr/6.3.219]
17. Ahmadi A, Ng SC. Destruction of protamine in human sperm inhibits sperm binding and penetration in the zona-free hamster penetration test but increases sperm head decondensation and male pronuclear formatin in the hamster-ICSI assay. J Assist Reprod Genet 1999; 16: 128-132. [DOI:10.1023/A:1022527714175]
18. Cho Ch, Jung-Ha H, Willis WD, Goulding EH, Stein P, Xu Z, et al. Protamine 2 deficiency lead to sperm DNA damage and embryo death in mice. Biol Reprod 2003; 69: 211-217. [DOI:10.1095/biolreprod.102.015115]
19. Steger K, Fink L, Failing K. Decreased protamine-1 transcript levels in testes from infertile men. Mol Hum Reprod 2003; 9: 331-336. [DOI:10.1093/molehr/gag041]
20. Mengual L, Ballesca JI, Ascaso C, Olvia R. Marked differences in protamine content and P1/P2 ratios in sperm cells from percoll fractions between patients and controls. J Androl 2003; 24: 438-447. [DOI:10.1002/j.1939-4640.2003.tb02692.x]
21. Tuttelmann F, Rajpert-De E, Nieschlag E, Simoni M. Gene polymorphisms and male infertility - a mete-analysis and literature review. Reprod Biomed Online 2007; 15: 643-658. [DOI:10.1016/S1472-6483(10)60531-7]
22. Alfonso PT, Kistler WS. Immunohistochemical localization of spermatid nuclear transition protein 2 in the testis of rats and mice. Biol Reprod 1993; 48: 522-529. [DOI:10.1095/biolreprod48.3.522]
23. Keime S, Heitland K, Kumm S. Characterization of four genes encoding basic proteins of the porcine spermatid nucleus and close linkage of three of them. Biol Chem Hoppe-Seyler 1992; 373: 261-270. [DOI:10.1515/bchm3.1992.373.1.261]
24. Oko RJ, Jando V, Wagner CL. Chromatin reorganization in rat spermatids during the disappearance of testis-specific histone, H1t, and the 1. Iguchi N, Yang S, Lamb DJ, Hecht NB. An SNP in protamine 1: a possible genetic cause of male infertility? J Med Genet 2006; 43: 382-384.
25. M Adham I, Nayernia K, Burkhardt-Gottges E, Topaloglu O, Dixkens Ch, F Holstein A, et al. Terazoospermia in mice lacking the transition protein 2 (TNP2). Mol Hum Reprod 2001; 7: 513-520. [DOI:10.1093/molehr/7.6.513]
26. Yu YE, Zhang Y, Unni E. Abnormal spermatogenesis and reduced fertility in transition nuclear protein 1-deficient mice. Proc Natl Acad Sci USA 2000; 79: 4683-4688. [DOI:10.1073/pnas.97.9.4683]
27. Kistler WS, Henriksen K, Mali P. Sequential expression of nucleoproteins during rat spermatogenesis. Exp Cell Res 1996; 225: 374-381. [DOI:10.1006/excr.1996.0188]
28. Ravel C, Chantot-Bastaraud S, EI Houate B, Berthaut I, Verstraete L, De Larouziere V, et al. Mutations in the protamine 1 gene associated with male infertility. Mol Hum Reprod 2007; 5: 1-4. [DOI:10.1093/molehr/gam031]
29. Tuttelmann F, Krenkova P, Romer S, Nestorovic AR, Ljujic M, Stambergova A, et al. A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts. Int JAndrol 2010; 33: 240-248. [DOI:10.1111/j.1365-2605.2009.01003.x]
30. Gazouez C, Oriola J, De Mateo S, Vidal-Taboada JM, Ballesca JL, Olvia R. A comman protamine 1 promoter polymorphism (C190A) correlates with abnormal sperm morphology and increased protamine P1/P2 ratio in infertile patients. J Androl 2008; 29: 540-548. [DOI:10.2164/jandrol.107.004390]
31. Steger K, Wilhelm JLK, Stalf T, Greb R, Diemer T. Both protamine-1 to protamine-2 mRNA ratio and Bcl2 mRNA content in testicular spermatids and ejaculated spermatozoa discriminate between fertile and infertile men. Hum Reprod 2008; 23: 11-16. [DOI:10.1093/humrep/dem363]
32. Sambrook J, Fritsch E, Maniatis T. Isolation of DNA from mammalian cells. Molecular cloning. New York,USA: Cold spring Harbour Press; 2001.
33. Imken L, Rouba H, EI Houate B. Mutations in the protamine locus: association with spermatogenic failure. Mol Hum Reprod 2009; 7: 1-22. [DOI:10.1093/molehr/gap056]
34. Kichine E, Msaidie S, Bokilo AD, Ducoumeau A, Navarro A, Levy N, et al. Low frequency protamine 1 gene transversions C102G and C2107G do not correlate with male infertility. J Med Genet 2008; 43: 382-384.
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