Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility

Author:

Pan Zhiqi,Wang Weijie,Wu Ling,Yao Zhongyuan,Wang Wenjing,Chen Yao,Gu Hao,Dong Jie,Mu Jian,Zhang Zhihua,Fu Jing,Li Qiaoli,Wang Lei,Sun Xiaoxi,Kuang Yanping,Sang Qing,Chen Biaobang

Funder

National Natural Science Foundation of China

China Postdoctoral Science Foundation

National Key Research and Development Program for Young Scientists

National Key Research and Development Program of China

Project of the Shanghai Municipal Science and Technology Commission

New Cornerstone Science Foundation through the XPLORER PRIZE

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Blat Y, Protacio RU, Hunter N, Kleckner N (2002) Physical and functional interactions among basic chromosome organizational features govern early steps of meiotic chiasma formation. Cell 111:791–802. https://doi.org/10.1016/s0092-8674(02)01167-4

2. Carofiglio F, Sleddens-Linkels E, Wassenaar E, Inagaki A, van Cappellen WA, Grootegoed JA, Toth A, Baarends WM (2018) Repair of exogenous DNA double-strand breaks promotes chromosome synapsis in SPO11-mutant mouse meiocytes, and is altered in the absence of HORMAD1. DNA Repair (amst) 63:25–38. https://doi.org/10.1016/j.dnarep.2018.01.007

3. Claeys Bouuaert C, Pu S, Wang J, Oger C, Daccache D, Xie W, Patel DJ, Keeney S (2021) DNA-driven condensation assembles the meiotic DNA break machinery. Nature 592:144–149. https://doi.org/10.1038/s41586-021-03374-w

4. Dereli I, Stanzione M, Olmeda F, Papanikos F, Baumann M, Demir S, Carofiglio F, Lange J, de Massy B, Baarends WM, Turner J, Rulands S, Tóth A (2021) Four-pronged negative feedback of DSB machinery in meiotic DNA-break control in mice. Nucleic Acids Res 49:2609–2628. https://doi.org/10.1093/nar/gkab082

5. Dong J, Zhang H, Mao X, Zhu J, Li D, Fu J, Hu J, Wu L, Chen B, Sun Y, Mu J, Zhang Z, Sun X, Zhao L, Wang W, Wang W, Zhou Z, Zeng Y, Du J, Li Q, He L, Jin L, Kuang Y, Wang L, Sang Q (2021) Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure. Hum Reprod 36:2371–2381. https://doi.org/10.1093/humrep/deab118

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