title: SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis.
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.
  
  
  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).
  
  
  CONCLUSIONS
  So even though the SPO11-C631T don't increase the risk of male infertility, it could be deleterious for themRNA and protein.
authors.affiliation: Gametogenesis Research Center, Kashan University of Medical Sciences, Kashan, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Karimian
authors.affiliation: Gametogenesis Research Center, Kashan University of Medical Sciences, Kashan, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Nikzad
authors.affiliation: Anatomical Sciences Research Center, Kashan University of Medical Sciences, Kashan, Iran.
authors.forename: Abolfazl
authors.initials: A
authors.lastname: Azami-Tameh
authors.affiliation: Gametogenesis Research Center, Kashan University of Medical Sciences, Kashan, Iran.
authors.forename: Aliakbar
authors.initials: A
authors.lastname: Taherian
authors.affiliation: Department of Biology, Division of Biochemistry, Cell and Molecular Biology, University of Isfahan, Isfahan, Iran.
authors.forename: Fatemeh Zahra
authors.initials: FZ
authors.lastname: Darvishi
authors.affiliation: Gametogenesis Research Center, Kashan University of Medical Sciences, Kashan, Iran.
authors.forename: Mohammad Javad
authors.initials: MJ
authors.lastname: Haghighatnia
keywords: Male Infertility; PCR-RFLP; SPO11 Gene; Single Nucleotide Polymorphism