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:: Volume 11, Issue 3 (6-2024) ::
2024, 11(3): 66-72 Back to browse issues page
Polymorphism of the Testis-Specific Serine/Threonine Kinase 6 (TSSK6) Gene in Spermatozoa of Asthenozoospermia Patients at Institut Pasteur of Côte d'Ivoire
Konan Guy Sylvère N'zi , Jules Eric Hermann Ayekoue , Marie Florence N'guessan , Founzégué Amadou Coulibaly , Allico Joseph Djaman
Alassane Ouattara University, Department of Science and Technology, Côte d’Ivoire , guysylverenzi@yahoo.fr
Abstract:   (342 Views)
Introduction:Phosphorylation reactions highlight the essential role of protein kinases in sperm motility. TSSK6 protein is thought to play a crucial role in this process. Indeed, sperm obtained from mice with the Tssk6-/- genotype are unable to carry out fertilization and exhibit decreased motility. This leads us to investigate the causes of asthenozoospermia by searching for polymorphisms in the TSSK6 gene. Therefore, the objective of this study is to identify polymorphisms in the TSSK6 gene in men affected by asthenozoospermia.
Material & Methods: The methodology involved direct sequencing of spermatozoa DNA. Thirty ejaculates were analyzed, including 20 from asthenozoospermic men and 10 from normozoospermic men. Spermograms were performed according to WHO procedures. DNA extraction was carried out using the phenol/chloroform method followed by conventional PCR. The amplicons were sequenced using the Sanger method, and the sequences were analyzed with BioEdit software. The data were analyzed using Fisher and Mann-Whitney tests.
Results: The results revealed mutations in the TSSK6 gene in both normospermic and asthenozoospermic ejaculates. The synonymous mutations c.690T>C (p.Tyr230Tyr) and c.372C>A (p.Arg124Arg) were the most frequent, occurring at rates of 50% and 33.33%, respectively. Analysis of the mutations using PolyPhen-2 indicated that all mutations observed in normozoospermic samples are benign and would not affect sperm quality. However, only the mutations described in asthenozoospermic samples are predicted to be damaging to the protein.

Conclusion: In conclusion, mutations in the TSSK6 gene were observed in infertile men. Deleterious mutations in the TSSK6 protein are associated with asthenozoospermia
 
Keywords: Infertility, Male, Gene, Protein, Mutation, TSSK6
Full-Text [PDF 787 kb]   (141 Downloads)    
Type of Study: Research | Subject: Cellular and molecular biology
Received: 2024/02/9 | Accepted: 2024/06/2 | Published: 2024/06/21
References
1. World Health Organization. Laboratory manual for the examination and processing of human semen, 5th ed. Geneva, Switzerland; 2010. P. 271.
2. Drissi J, Drissi M, Koutaini A, Rhrab B, Fehati D, El Hamzaoui S. Les facteurs influençant la fertilité masculine. Int j of innov and sci res. 2015; 15(1):15-26.
3. Ayékoué JEH, N’zi KGS, Yayé YG, Coulibaly FA, N’guessan MF, Bahi GA, et al. The asthenozoospermia as a major sperm abnormality in males assessed for semen analysis in Institut Pasteur of Cote d’Ivoire. JAMSAT. 2018; 4:7-12.
4. Luconi M, Forti G, Baldi E. Pathophysiology of sperm motility. Front Biosci. 2006; 1(11):1433-47. doi: 10.2741/1894.
5. Debby I, Maya F, Haim B. Mechanism of sperm capacitation and the acrosome reaction: role of protein kinases. Asian J Androl. 2012; 14(6):816-21. doi: 10.1038/aja.2012.81.
6. Baldi E, Luconi M, Bonaccorsi L, Muratori M, Forti G. Intracellular events and signaling pathways involved in sperm acquisition of fertilizing capacity and acrosome reaction. Front Biosci. 2000; 1:5:E110-23. doi: 10.2741/baldi.
7. Pereira R, Sá R, Barros A, Sousa M. Major regulatory mechanisms involved in sperm motility. Asian J Androl. 2017; 19(1):5-14. doi: 10.4103/1008-682x.167716.
8. Li Y., Sosnik J, Brassard L, Reese M, Spiridonov NA, Bates TC, et al. Expression and localization of five members of the testis-specific serine kinase (Tssk) family in mouse and human sperm and testis. Mol Hum Reprod. 2011; 17(1):42-56. doi.org/10.1093/molehr/gaq071.
9. Spiridonov NA, Wong L, Zerfas PM, Starost MF, Pack SD, Paweletz CP, et al. Identification and characterization of SSTK, a serine/ threonine protein kinase essential for male fertility. Mol Cell Biol. 25(10):4250-61. doi.org/10.1128/mcb.25.10.4250-4261.2005.
10. Su D, Wei Z, Yuan Y, Hao Z, Yun-Qiang L, Gang B, et al. c.822+126T>G/C: a novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population. Asian J Androl. 12(2):234-9. doi: 10.1038/aja.2009.80.
11. Jha KL, Coleman AR, Wong L, Salicioni AM, Howcroft E, Johnson GR. Heat Shock Protein 90 Functions to Stabilize and Activate the Testis-specific Serine/Threonine Kinases, a Family of Kinases Essential for Male Fertility. J Biol Chem. 2013; 288(23): 16308-20. doi: 10.1074/jbc.M112.400978
12. Jha KN, Wong L, Zerfas PM, De Silva RS, Ying-Xin F, Spiridonov NA, et al. Identification of a novel HSP70-binding cochaperone critical to HSP90 mediated activation of Small Serine/Threonine Kinase. J Biol Chem. 2010; 285(45):35180-7. doi: 10.1074/jbc.M110.134767.
13. Garrido C, Ottavi P, Fromentin A, Hammann A., Arrigo AP, Chauffert B, et al. HSP27 as a mediator of confluence-dependent resistance to cell death induced by anticancer drugs. Cancer Res. 1997; 57(13):2661-7.
14. Beere H, Wolf B, Cain K, Moser D, Mahboubi A, Kuwana T, et al. Heat schock protein 70 inhibts apoptotsis by preventing recruitment of procaspase-9 to the Apaf-1 apoptosome. Nat Cell Biol. 2000; 2:469-75. doi.org/10.1038/35019501
15. Creagh EM, Sheehan D, Coter TG. Heat shock proteins-modulators of apoptosis in tumour cells. Leukemia. 2000; 14:1161-73. doi.org/10.1038/sj.leu.2401841.
16. Lanneau D, de Thonel A, Maurel S, Didelot C, Garrido C. Apoptosis Versus Cell Differentiation : Role of Heat Shock Proteins HSP90, HSP70 and HSP27. Prion. 2007; 1(1):53-60. doi: 10.4161/pri.1.1.4059.
17. Baume F., 2009.- Apoptose et spermatogénèse dans l’infertilité masculine. Thèse de Doctorat, Université d’Auvergne, Clermond-Ferrand (France) ; 2009. P. 175.
18. Ayekoue JEH, N’zi KGS, Ako AAB, N’guessan MF, Yayé YG, Coulibaly FA, et al. Polymorphism of mitochondrial DNA genes involved in asthenozoospermia in infertile patients of Côte d’Ivoire. Reprod Dev Med. 2023; 7(1):38-43. doi: 10.1097/RD9.0000000000000026.
19. Konan GSN, Ayekoue JEH, Yayé YG, N’guessan MF, Ako ABA, Coulibaly FA, et al. Polymorphism of the testis-specific serine/threonine kinase 2 gene and risk of asthenozoospermia in Côte d'Ivoire. Int J Reprod Contracept Obstet Gynecol. 2019; 8(5):1713-8. doi.org/10.18203/2320-1770.ijrcog20191923
20. Ashrafzadeh A, Saiful SA, Sheila N. Mammalian Sperm Fertility Related Proteins. Int J Med Sci. 2013; 10(12): 1649-57.
21. Miyamoto T, Minase G, Shin T, Ueda H, Okada H, Sengoku K. Human male infertility and its genetic causes. Reprod Med Biol. 2017; 16(2):81-8. doi: 10.1002/rmb2.12017.
22. Hall TA. BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucleic Acids Symposium Series. 1999; 41:95-8. doi :10.14601/Phytopathol_Mediterr-14998u1.29
23. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7(4):248-9. doi: 10.1038/nmeth0410-248.
24. Massart A, Lissens W, Tournaye H, Stouffs K. Genetic causes of spermatogenic failure. Asian J Androl. 2012; 14(1):40-8. doi: 10.1038/aja.2011.67.
25. Allais-Bonnet A, Pailhoux E. Role of the prion protein family in the gonads. Front Cell Dev Biol. 2014; 2:56. doi: 10.3389/fcell.2014.00056.
26. Friedberg E. DNA damage and repair. Nature. 2003; 421:36-440. doi.org/10.1038/nature01408
27. Shiloh Y. ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer. 2003; 3(3):155-68. doi: 10.1038/nrc1011.
28. Wang J, Fan CH, Behr B, Quake SR. Genome-Wide single-cell analysis of recombination activity and de novo mutation rates in human sperm. Cell. 2013; 150:402-12. doi.org/10.1016/j.cell.2012.06.030.
29. Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, et al. Rate of de novo mutations and the importance of father’s age to disease risk. Nature. 2012; 488(7412):471-5. doi: 10.1038/nature11396.
30. Acuna-Hidalgo R, Veltman AJ, Hoischen A. New insights into the generation and role of de novo mutations in health and disease. Genome Biol. 2016; 17(1):241. doi: 10.1186/s13059-016-1110-1.
31. Masumura K, Toyoda-Hokaiwado N, Ukai A, Gondo Y, Honma M, Nohmi T. Dose-dependent de novo germline mutations detected by whole-exome sequencing in progeny of ENU-treated male gpt delta mice. Mutat Res Genet Toxicol Environ Mutagen. 2016; 810:30-9. doi: 10.1016/j.mrgentox.2016.09.009.
32. Hanna N, Parfait B, Vidaud D, Vidaud M. Mécanismes et conséquences des mutations. Med Sci. 2005; 21(11):969-80. doi.org/10.1051/medsci/20052111969.
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N'zi K G S, Ayekoue J E H, N'guessan M F, Coulibaly F A, Djaman A J. Polymorphism of the Testis-Specific Serine/Threonine Kinase 6 (TSSK6) Gene in Spermatozoa of Asthenozoospermia Patients at Institut Pasteur of Côte d'Ivoire. Journal of Basic Research in Medical Sciences 2024; 11 (3) :66-72
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Volume 11, Issue 3 (6-2024) Back to browse issues page
مجله ی تحقیقات پایه در علوم پزشکی Journal of Basic Research in Medical Sciences
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