4.5 Review

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

Journal

ASIAN JOURNAL OF ANDROLOGY
Volume 23, Issue 6, Pages 555-561

Publisher

WOLTERS KLUWER MEDKNOW PUBLICATIONS
DOI: 10.4103/aja.aja_5_21

Keywords

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Funding

  1. National Key Research and Developmental Program of China [2018YFC1003700, 2018YFC1003400, 2016YFC1000600]
  2. Strategic Priority Research Program of the Chinese Academy of Sciences [XDB19000000]
  3. National Natural Science Foundation of China [31890780, 31630050, 32061143006, 82071709, 31871514]
  4. Fundamental Research Funds for the Central Universities [YD2070002006]

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This article discusses the formation of DNA double-strand breaks (DSBs) in meiosis and its importance for sexually reproducing organisms, as well as the potential infertility issues caused by abnormal DSB formation. Research has shown that the number and distribution of DSBs are tightly regulated, but abnormalities can still occur. By analyzing the mutations of DSB formation genes and their association with human infertility, future directions and strategies for studying meiotic DSB formation are proposed.
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.

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