SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis
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 exon...
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2016-04-01
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| Series: | Journal of Family and Reproductive Health |
| Subjects: | |
| Online Access: | https://jfrh.tums.ac.ir/index.php/jfrh/article/view/378 |
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| author | Mohammad Karimian Hossein Nikzad Abolfazl Azami-Tameh Aliakbar Taherian Fatemeh Zahra Darvishi Mohammad Javad Haghighatnia |
| author_facet | Mohammad Karimian Hossein Nikzad Abolfazl Azami-Tameh Aliakbar Taherian Fatemeh Zahra Darvishi Mohammad Javad Haghighatnia |
| author_sort | Mohammad Karimian |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-19T22:33:49Z |
| format | Article |
| id | doaj.art-12263a5ff5b24392ae4afcdfbdd078df |
| institution | Directory Open Access Journal |
| issn | 1735-8949 1735-9392 |
| language | English |
| last_indexed | 2024-12-19T22:33:49Z |
| publishDate | 2016-04-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Journal of Family and Reproductive Health |
| spelling | doaj.art-12263a5ff5b24392ae4afcdfbdd078df2022-12-21T20:03:16ZengTehran University of Medical SciencesJournal of Family and Reproductive Health1735-89491735-93922016-04-0194334SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-AnalysisMohammad Karimian0Hossein Nikzad1Abolfazl Azami-Tameh2Aliakbar Taherian3Fatemeh Zahra Darvishi4Mohammad Javad Haghighatnia5Gametogenesis Research Center, Kashan University of Medical Sciences, Kashan, IranGametogenesis Research Center, Kashan University of Medical Sciences, Kashan, IranAnatomical Sciences Research Center, Kashan University of Medical Sciences, Kashan, IranGametogenesis Research Center, Kashan University of Medical Sciences, Kashan, IranDepartment of Biology, Division of Biochemistry, Cell and Molecular Biology, University of Isfahan, Isfahan, IranGametogenesis Research Center, Kashan University of Medical Sciences, Kashan, IranObjective: 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.https://jfrh.tums.ac.ir/index.php/jfrh/article/view/378Male InfertilitySPO11 GeneSingle Nucleotide PolymorphismPCR-RFLP |
| spellingShingle | Mohammad Karimian Hossein Nikzad Abolfazl Azami-Tameh Aliakbar Taherian Fatemeh Zahra Darvishi Mohammad Javad Haghighatnia SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis Journal of Family and Reproductive Health Male Infertility SPO11 Gene Single Nucleotide Polymorphism PCR-RFLP |
| title | SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis |
| title_full | SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis |
| title_fullStr | SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis |
| title_full_unstemmed | SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis |
| title_short | SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis |
| title_sort | spo11 c631t gene polymorphism association with male infertility and an in silico analysis |
| topic | Male Infertility SPO11 Gene Single Nucleotide Polymorphism PCR-RFLP |
| url | https://jfrh.tums.ac.ir/index.php/jfrh/article/view/378 |
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