Volume 12, Issue 4 (5-2014)
IJRM 2014, 12(4): 257-262 |
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1- Department of Biology, Faculty of Sciences, Yazd University, Yazd, Iran , Heidarimm@yazd.ac.ir
2- Department of Biology, Faculty of Sciences, Yazd University, Yazd, Iran
3- Department of Anatomy, Research and Clinical Center for Infertility, Shahid Sadughi University of Medical Sciences, Yazd, Iran
2- Department of Biology, Faculty of Sciences, Yazd University, Yazd, Iran
3- Department of Anatomy, Research and Clinical Center for Infertility, Shahid Sadughi University of Medical Sciences, Yazd, Iran
Abstract: (2343 Views)
Background: Varicocele is associated with the failure of ipsilateral testicular growth and development, and the symptoms of pain and reduced fertility. The highly condensed structure of the sperm nuclear chromatin is provided by proper expression of Transition Nuclear Protein (TNP) genes, so any dysregulational expression of these genes results in abnormal spermatogenesis and infertility.
Objective: The aim of present study was to assess the association between TNP1 mutations and varicocele in Iranian infertile men.
Materials and Methods: Analysis of association between TNP1 gene mutation and varicocele phenotype was performed using PCR and Single-Stranded Conformational Polymorphism technique and DNA sequencing in 82 varicocele infertile men and 80 control subjects.
Results: Sequence analysis was identified one variant in this gene that found in 15 infertile men and was absent in control group. This variant was a single nucleotide polymorphism that were identified in the intron region of this gene at position g.IVS1+75T>C.
Conclusion: The effect of this nucleotide substitution in intronic region of the TNP1 gene and their role on expression remains to be determined.
Objective: The aim of present study was to assess the association between TNP1 mutations and varicocele in Iranian infertile men.
Materials and Methods: Analysis of association between TNP1 gene mutation and varicocele phenotype was performed using PCR and Single-Stranded Conformational Polymorphism technique and DNA sequencing in 82 varicocele infertile men and 80 control subjects.
Results: Sequence analysis was identified one variant in this gene that found in 15 infertile men and was absent in control group. This variant was a single nucleotide polymorphism that were identified in the intron region of this gene at position g.IVS1+75T>C.
Conclusion: The effect of this nucleotide substitution in intronic region of the TNP1 gene and their role on expression remains to be determined.
Type of Study: Original Article |
References
1. Jungwirth A, Giwercman A, Tournaye H, Diemer T, Kopa Z, Dohle G, et al. European Association of Urology guidelines on Male Infertility: the 2012 update. Eur Urol 2012; 62: 324-332. [DOI:10.1016/j.eururo.2012.04.048]
2. Razi M, Sadrkhanloo RA, Malekinejad H, Sarrafzadeh-Rezaei F. Testicular biohistochemical alterations following experimental varicocele in rats. Iran J Reprod Med 2012; 10: 209-218.
3. Cassidy D, Jarvi K, Grober E, Lo K. Varicocele surgery or embolization: Which is better? Can Urol Assoc J 2012; 6: 266-268. [DOI:10.5489/cuaj.295]
4. Jarow JP. Effects of varicocele on male fertility. Hum Reprod Update 2001; 7: 59-64. [DOI:10.1093/humupd/7.1.59]
5. Smith R, Kaune H, Parodi D, Madariaga M, Rios R, Morales I, et al. Increased sperm DNA damage in patients with varicocele: relationship with seminal oxidative stress. Hum Reprod 2006; 21: 986-993. [DOI:10.1093/humrep/dei429]
6. Heidari MM, Khatami M, Talebi AR. The POLG Gene Polymorphism in Iranian Varicocele-Associated Infertility Patients. Iran J Basic Med Sci 2012; 15: 739-744.
7. Khalili MA, Aghaie-Maybodi F, Anvari M, Talebi AR. Sperm nuclear DNA in ejaculates of fertile and infertile men: correlation with semen parameters. Urol J 2006; 3: 154-159.
8. Fuse H, Akashi T, Mizuno I, Nozaki T, Watanabe A. Postoperative changes of sperm chromatin heterogeneity, using acridine orange staining, in varicocele patients. Arch Androl 2006; 52: 223-226. [DOI:10.1080/01485010500428397]
9. Talebi AR, Moein MR, Tabibnejad N, Ghasemzadeh J. Effect of varicocele on chromatin condensation and DNA integrity of ejaculated spermatozoa using cytochemical tests. Andrologia 2008; 40: 245-251. [DOI:10.1111/j.1439-0272.2008.00852.x]
10. Hassun filho P, Cedenho A, Lima S, Ortiz V, Srougi M. Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertility. Offic J Braz Soc Urol 2005; 31: 236-244. [DOI:10.1590/S1677-55382005000300007]
11. Panigrahi SK, Yadav BR. Polymorphism in TNP-1 gene of Murrah buffalo bulls. Afr J Biotechnol 2010; 9: 7224-7229.
12. Lewis JD, Saperas N, Song Y, Zamora MJ, Chiva M, Ausio J. Histone H1 and the origin of protamines. Proc Natl Acad Sci USA 2004; 101: 4148-4152. [DOI:10.1073/pnas.0308721101]
13. Mylonis I, Drosou V, Brancorsini S, Nikolakaki E, Sassone-Corsi P, Giannakouros T. Temporal association of protamine 1 with the inner nuclear membrane protein lamin B receptor during spermiogenesis. J Biol Chem 2004; 279: 11626-11631. [DOI:10.1074/jbc.M311949200]
14. Youssry M, Ozmen B, Orief Y, Zohni Kh, Al-Hasani S. Human sperm DNA damage in the context of assisted reproductive techniques. Iran J Reprod Med 2007; 5: 137-150.
15. Garcia-Peiro A, Martinez-Heredia J, Oliver-Bonet M, Abad C, Amengual MJ, Navarro J, et al. Protamine 1 to protamine 2 ratio correlates with dynamic aspects of DNA fragmentation in human sperm. Fertil Steril 2011; 95: 105-109. [DOI:10.1016/j.fertnstert.2010.06.053]
16. 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 Androl 2005; 26: 779-786. [DOI:10.2164/jandrol.05069]
17. 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. Iran J Reprod Med 2012; 10: 329-336.
18. Laboratory manual of the WHO for the examination of human semen and sperm-cervical mucus interaction. Ann Ist Super Sanita 2001; 37: 1-123.
19. mirzargar MA, Yavangi M, Basiri A, Hosseini Moghaddam SM, Babbolhavaeji H, Amirzargar N, et al. Comparison of recombinant human follicle stimulating hormone (rhFSH), human chorionic gonadotropin (HCG) and human menopausal gonadotropin (HMG) on semen parameters after varicocelectomy: a randomized clinical trial. Iran J Reprod Med 2012; 10: 441-452.
20. Agarwal A, Said TM. Role of sperm chromatin abnormalities and DNA damage in male infertility. Hum Reprod Update 2003; 9: 331-345. [DOI:10.1093/humupd/dmg027]
21. Al-Naser M, Khori F, Kaabneh A, Shunaigat A. Outcome of Varicocele Surgery and Infertility at Prince Hussein Urology Center. Royal Med Serv J 2012; 19: 11-14.
22. Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, et al. Mutations in the protamine locus: association with spermatogenic failure? Mol Hum Reprod 2009; 15: 733-738. [DOI:10.1093/molehr/gap056]
23. Miyaoka R, Esteves SC. A critical appraisal on the role of varicocele in male infertility. Adv Urol 2012; 2012: 597495. [DOI:10.1155/2012/597495]
24. Aoki VW, Liu L, Carrell DT. Identification and evaluation of a novel sperm protamine abnormality in a population of infertile males. Hum Reprod 2005; 20: 1298-1306. [DOI:10.1093/humrep/deh798]
25. Steger K, Pauls K, Klonisch T, Franke FE, Bergmann M. Expression of protamine-1 and -2 mRNA during human spermiogenesis. Mol Hum Reprod 2000; 6: 219-225. [DOI:10.1093/molehr/6.3.219]
26. 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]
27. Salamian A, Ghaedi K, Razavi S, Tavalaee M, Tanhaei S. Single nucleotide polymorphism analysis of protamine genes in infertile men. Int J Fertil Steril 2008; 2: 13-18.
28. Kremling H, Luerssen H, Adham IM, Klemm U, Tsaousidou S, Engel W. Nucleotide sequences and expression of cDNA clones for boar and bull transition protein 1 and its evolutionary conservation in mammals. Differentiation 1989; 40: 184-190. [DOI:10.1111/j.1432-0436.1989.tb00597.x]
29. de Yebra L, Ballesca JL, Vanrell JA, Bassas L, Oliva R. Complete selective absence of protamine P2 in humans. J Biol Chem 1993; 268: 10553-10557.
30. Schlicker M, Schnulle V, Schneppel L, Vorob'ev VI, Engel W. Disturbances of nuclear condensation in human spermatozoa: search for mutations in the genes for protamine 1, protamine 2 and transition protein 1. Hum Reprod 1994; 9: 2313-2137. [DOI:10.1093/oxfordjournals.humrep.a138444]
31. Aoki VW, Christensen GL, Atkins JF, Carrell DT. Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility. Fertil Steril 2006; 86: 1416-1422. [DOI:10.1016/j.fertnstert.2006.04.033]
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