• PMID: 27047561
• Gene Name: SPO11
• Condition: Male infertility
• Association: So even though the SPO11-C631T don't increase the risk of male infertility, it could be deleterious for them RNA and protein.
• Mutation: SPO11-C631T
• Population size: 200
• Population details: 200 (100 infertile, 100 healthy control men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

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

Karimian M, Nikzad H, Azami-Tameh A, Taherian A, Darvishi FZ, Haghighatnia MJ.

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. FAU - Karimian, Mohammad AU - Karimian M AD - Gametogenesis Research Center, Kashan University of Medical Sciences, Kashan, Iran. FAU - Nikzad, Hossein AU - Nikzad H AD - Gametogenesis Research Center, Kashan University of Medical Sciences, Kashan, Iran. FAU - Azami-Tameh, Abolfazl AU - Azami-Tameh A AD - Anatomical Sciences Research Center, Kashan University of Medical Sciences, Kashan, Iran. FAU - Taherian, Aliakbar AU - Taherian A AD - Gametogenesis Research Center, Kashan University of Medical Sciences, Kashan, Iran. FAU - Darvishi, Fatemeh Zahra AU - Darvishi FZ AD - Department of Biology, Division of Biochemistry, Cell and Molecular Biology, University of Isfahan, Isfahan, Iran.