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The molecular control of meiotic double-strand break (DSB) formation and its significance in human infertility

Yang Li1, Yu-Fan Wu1, Han-Wei Jiang1, Ranjha Khan1, Qi-Qi Han1, Furhan Iqbal2, Xiao-Hua Jiang1, Qing-Hua Shi1

1 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
2 Institute of Pure and Applied Biology, Bahauddin Zakariya University, Multan 60000, Pakistan

Correspondence: Dr. QH Shi (qshi@ustc.edu.cn) or Dr. XH Jiang (biojxh@ustc.edu.cn)



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.

Keywords: DNA double-strand break (DSB); infertility; meiosis; mutation

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