globalchange  > 气候变化与战略
DOI: 10.1016/j.scib.2020.08.026
论文题名:
A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertility
作者: Jiao Y.; Fan S.; Jabeen N.; Zhang H.; Khan R.; Murtaza G.; Jiang H.; Ali A.; Li Y.; Bao J.; Zhang B.; Xu J.; Xu B.; Hussain H.M.J.; Zaman Q.; Khan I.; Bukhari I.; Iqbal F.; Yousaf A.; Dil S.; Khan M.; Ahmad N.; Ma H.; Jiang X.; Zhang Y.; Shi Q.
刊名: Science Bulletin
ISSN: 20959273
出版年: 2020
卷: 65, 期:24
起始页码: 2120
结束页码: 2129
语种: 英语
中文关键词: Human infertility ; Meiotic arrest ; Meiotic DSB formation failure ; Oocyte maturation failure ; Programmed meiotic DNA double-strand breaks ; TOP6BLmutation
英文关键词: Cell proliferation ; Chromosomes ; Mammals ; Chromosome segregation ; DNA double strand breaks ; Homologous recombination ; Human reproduction ; Meiotic recombinations ; Oocyte maturation ; Sexual reproduction ; Unexplained infertility ; Plants (botany)
英文摘要: Meiosis is pivotal for sexual reproduction and fertility. Meiotic programmed DNA double-strand breaks (DSBs) initiate homologous recombination, ensuring faithful chromosome segregation and generation of gametes. However, few studies have focused on meiotic DSB formation in human reproduction. Here, we report four infertile siblings born to a consanguineous marriage, with three brothers suffering from non-obstructive azoospermia and one sister suffering from unexplained infertility with normal menstrual cycles and normal ovary sizes with follicular activity. An autosomal recessive mutation in TOP6BL was found co-segregating with infertility in this family. Investigation of one male patient revealed failure in programmed meiotic DSB formation and meiotic arrest prior to pachytene stage of prophase I. Mouse models carrying similar mutations to that in patients recapitulated the spermatogenic abnormalities of the patient. Pathogenicity of the mutation in the female patient was supported by observations in mice that meiotic programmed DSBs failed to form in mutant oocytes and oocyte maturation failure due to absence of meiotic recombination. Our study thus illustrates the phenotypical characteristics and the genotype-phenotype correlations of meiotic DSB formation failure in humans. © 2020 Science China Press
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资源类型: 期刊论文
标识符: http://119.78.100.158/handle/2HF3EXSE/169936
Appears in Collections:气候变化与战略

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作者单位: First Affiliated Hospital of University of Science and Technology of China, 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, Zoology Division, Bahauddin Zakariya University, Multan, 60800, Pakistan; Shahbaz Sharif District Hospital, Multan, 60800, Pakistan

Recommended Citation:
Jiao Y.,Fan S.,Jabeen N.,et al. A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertility[J]. Science Bulletin,2020-01-01,65(24)
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