Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei 230027, China.
Institute of Pure and Applied Biology, Bahauddin Zakariya University, Multan 60000, Pakistan.
Asian J Androl. 2021 Nov-Dec;23(6):555-561. doi: 10.4103/aja.aja_5_21.
Meiosis is an essential step in gametogenesis which is the key process in sexually reproducing organisms as meiotic aberrations may result in infertility. In meiosis, programmed DNA double-strand break (DSB) formation is one of the fundamental processes that are essential for maintaining homolog interactions and correcting segregation of chromosomes. Although the number and distribution of meiotic DSBs are tightly regulated, still abnormalities in DSB formation are known to cause meiotic arrest and infertility. This review is a detailed account of molecular bases of meiotic DSB formation, its evolutionary conservation, and variations in different species. We further reviewed the mutations of DSB formation genes in association with human infertility and also proposed the future directions and strategies about the study of meiotic DSB formation.
减数分裂是配子发生过程中的一个重要步骤，是有性繁殖生物的关键过程，因为减数分裂异常可能导致不育。在减数分裂中，程序性的 DNA 双链断裂 (DSB) 的形成是维持同源染色体相互作用和纠正染色体分离的基本过程之一。尽管减数分裂 DSB 的数量和分布受到严格调控，但 DSB 的形成异常仍已知会导致减数分裂停滞和不育。本综述详细介绍了减数分裂 DSB 的形成的分子基础、其进化保守性以及不同物种中的差异。我们进一步综述了与人类不育相关的 DSB 形成基因的突变，并提出了关于减数分裂 DSB 形成研究的未来方向和策略。
