Sahota Jatinder Singh, Thakur Ranveer Singh, Guleria Kamlesh, Sambyal Vasudha
Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India.
Biochem Genet. 2024 Apr;62(2):1216-1230. doi: 10.1007/s10528-023-10469-8. Epub 2023 Aug 10.
RAD51 is a highly conserved recombinase involved in the strand invasion/exchange of double-stranded DNA by homologous single-stranded DNA during homologous recombination repair. Although a majority of existing literature associates RAD51 with the pathogenesis of various types of cancer, recent reports indicate a role of RAD51 in maintenance of fertility. The present study reviews the role of RAD51 and its interacting proteins in spermatogenesis/oogenesis and additionally reports the findings from the molecular genetic screening of RAD51 135 G > C polymorphism in infertile cases and controls. Fifty-nine articles from PubMed and Google Scholar related to the reproductive role of RAD51 were reviewed. For case-control study, the PCR-RFLP method was used to screen the RAD51 135 G > C polymorphism in 201 infertile cases (100 males, 101 females) and 201 age- and gender-matched healthy controls (100 males, 101 females) from Punjab, North-West India. The review of literature shows that RAD51 is indispensable for spermatogenesis and oogenesis in animal models. Reports on the role of RAD51 in human fertility are limited, however it is involved in the pathogenesis of infertility in both males and females. Molecular genetic analyses in the infertile cases and healthy controls showed no statistically significant difference in the genotypic and allelic frequencies for RAD51 135 G > C polymorphism, even after segregation of the cases by type of infertility (primary/secondary). Therefore, the present study concluded that the RAD51 135 G > C polymorphism was neither associated with male nor female infertility in North-West Indians. This is the first report on RAD51 135 G > C polymorphism and infertility.
RAD51是一种高度保守的重组酶，在同源重组修复过程中参与同源单链DNA对双链DNA的链入侵/交换。尽管现有大部分文献将RAD51与各类癌症的发病机制联系起来，但最近的报告表明RAD51在维持生育能力方面发挥作用。本研究综述了RAD51及其相互作用蛋白在精子发生/卵子发生中的作用，并另外报告了对不育病例和对照中RAD51 135 G＞C多态性进行分子遗传学筛查的结果。对来自PubMed和谷歌学术搜索的59篇与RAD51生殖作用相关的文章进行了综述。对于病例对照研究，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对来自印度西北部旁遮普邦的201例不育病例（100名男性，101名女性）和201名年龄及性别匹配的健康对照（100名男性，101名女性）进行RAD51 135 G＞C多态性筛查。文献综述表明，RAD51在动物模型的精子发生和卵子发生中不可或缺。关于RAD51在人类生育能力方面作用的报告有限，但其参与男性和女性不育的发病机制。对不育病例和健康对照的分子遗传学分析显示，即使按不育类型（原发性/继发性）对病例进行分类后，RAD51 135 G＞C多态性的基因型和等位基因频率在统计学上也没有显著差异。因此，本研究得出结论，RAD51 135 G＞C多态性与印度西北部人群的男性或女性不育均无关联。这是关于RAD51 135 G＞C多态性与不育的首次报告。
