Display options
Cite
Karimian M, Nikzad H, Azami-Tameh A, et al. SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis. J Family Reprod Health. 2015;9(4):155-63
Karimian, M., Nikzad, H., Azami-Tameh, A., Taherian, A., Darvishi, F. Z., & Haghighatnia, M. J. (2015). SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis. Journal of family & reproductive health, 9(4), 155-63.
Karimian, Mohammad, et al. "SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis." Journal of family & reproductive health vol. 9,4 (2015): 155-63.
Karimian M, Nikzad H, Azami-Tameh A, Taherian A, Darvishi FZ, Haghighatnia MJ. SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis. J Family Reprod Health. 2015 Nov;9(4):155-63. PMID: 27047561; PMCID: PMC4818377.
Copy Download .nbib Format: NLM
Share it on

J Family Reprod Health. 2015 Nov;9(4):155-63.

SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis.

Journal of family & reproductive health

Mohammad Karimian, Hossein Nikzad, Abolfazl Azami-Tameh, Aliakbar Taherian, Fatemeh Zahra Darvishi, Mohammad Javad Haghighatnia

Affiliations

  1. Gametogenesis Research Center, Kashan University of Medical Sciences, Kashan, Iran.
  2. Anatomical Sciences Research Center, Kashan University of Medical Sciences, Kashan, Iran.
  3. Department of Biology, Division of Biochemistry, Cell and Molecular Biology, University of Isfahan, Isfahan, Iran.

PMID: 27047561 PMCID: PMC4818377

Abstract

OBJECTIVE: To investigate the association of C631T single nucleotide polymorphisms in SPO11 gene with male infertilityfollowed by an in silico approach. SPO11 is a gene involved in meiosis and spermatogenesis process, which in humans, this gene is located on chromosome 20 (20q13.2-13.3) with 13 exons.

MATERIALS AND METHODS: In a case-control study, 200 blood samples were collected from the IVF center (Kashan, Iran) including; 100 infertile and 100 healthy control men. SPO11-C631T were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.The effects of C631T transition on the structure of mRNA and protein of SPO11 was evaluated by bioinformatics tools.

RESULTS: Our data revealed that all subjects were wild-type homozygous inC631T positionsand just a sample from fertile group was heterozygousin C631T (OR: 0.3300, 95% CI: 0.0133 to 8.1992, p = 0.4988).Our in silico-analysis revealed that C631T transition could make fundamental changes in the structure of the mRNA (Score: 0.1983) and protein (PROVEAN Score: -3.371; Reliability Index: 4; Expected Accuracy: 82%) of SPO11. Also, C631T substitution could change the aggregation prone regions of the SPO11 protein (dTANGO = 209.99).

CONCLUSION: So even though the SPO11-C631T don't increase the risk of male infertility, it could be deleterious for themRNA and protein.

Keywords: Male Infertility; PCR-RFLP; SPO11 Gene; Single Nucleotide Polymorphism

References

  1. Mol Cell. 2000 Nov;6(5):975-87 - PubMed
  2. Epigenetics. 2010 May 16;5(4):255-66 - PubMed
  3. Nucleic Acids Res. 2007;35(11):3823-35 - PubMed
  4. Nat Rev Genet. 2010 Feb;11(2):124-36 - PubMed
  5. Gene. 2014 Feb 15;536(1):40-4 - PubMed
  6. Genomics. 1999 Oct 15;61(2):156-69 - PubMed
  7. Dev Biol. 2007 Jun 1;306(1):112-20 - PubMed
  8. FEBS J. 2010 Feb;277(3):571-89 - PubMed
  9. J Mol Biol. 1982 May 5;157(1):105-32 - PubMed
  10. Genes Dev. 2010 Jun 15;24(12 ):1201-7 - PubMed
  11. Cell. 1997 Feb 7;88(3):375-84 - PubMed
  12. Gene. 2014 Feb 10;535(2):250-4 - PubMed
  13. Hum Reprod. 2002 Jan;17(1):13-6 - PubMed
  14. Hum Reprod Update. 2002 Mar-Apr;8(2):183-98 - PubMed
  15. J Assist Reprod Genet. 2014 Sep;31(9):1205-10 - PubMed
  16. Fertil Steril. 1991 Oct;56(4):599-613 - PubMed
  17. Chromosome Res. 2007;15(5):565-77 - PubMed
  18. Nature. 1997 Mar 27;386(6623):414-7 - PubMed
  19. Nucleic Acids Res. 2012 Jan;40(Database issue):D935-9 - PubMed
  20. Fertil Steril. 2009 Aug;92(2):578-82 - PubMed
  21. Nat Methods. 2010 Apr;7(4):248-9 - PubMed
  22. Nat Protoc. 2010 Apr;5(4):725-38 - PubMed
  23. Biochem Soc Trans. 2006 Aug;34(Pt 4):523-5 - PubMed
  24. Fertil Steril. 2005 Sep;84(3):758-60 - PubMed
  25. J Assist Reprod Genet. 2011 Aug;28(8):731-6 - PubMed
  26. Int J Fertil Steril. 2014 Jan;7(4):253-66 - PubMed
  27. Nucleic Acids Res. 2013 Jul;41(Web Server issue):W475-9 - PubMed
  28. Proc Natl Acad Sci U S A. 1999 Jul 6;96(14):7871-6 - PubMed
  29. Nucleic Acids Res. 2013 Jul;41(Web Server issue):W349-57 - PubMed
  30. Gene. 2014 Jan 25;534(2):139-43 - PubMed
  31. Fertil Steril. 2006 Jan;85(1):135-8 - PubMed
  32. Andrologia. 2012 Feb;44(1):26-33 - PubMed
  33. Nat Protoc. 2009;4(7):1073-81 - PubMed
  34. Cell. 2004 Apr 2;117(1):9-15 - PubMed
  35. Gene. 2013 Oct 10;528(2):360-3 - PubMed
  36. Ann Hum Genet. 1975 Oct;39(2):231-54 - PubMed
  37. Int J Fertil Steril. 2013 Jan;6(4):214-23 - PubMed
  38. FEBS Lett. 1999 Dec 3;462(3):329-34 - PubMed
  39. Proc Natl Acad Sci U S A. 2003 Dec 23;100(26):15287-9 - PubMed

Publication Types