Article
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility.
Human genetics - 1 Oct 2024
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
Abstract excerpt
Preimplantation embryonic arrest is an important pathogenesis of female infertility, but little is known about the genetic factors behind this phenotype. MEI4 is an essential protein for DNA double-strand break formation during meiosis, and Mei4 knock-out female mice are viable but sterile, indicating that MEI4 plays a crucial role in reproduction. To date, MEI4 has not been found to be associated with any human...
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