Identification of zona pellucida defects revealed a novel loss-of-function mutation in ZP2 in humans and rats.

Jun Zeng,Ying Sun,Jing Zhang,Xiaozhu Wu,Yan Wang,Ruping Quan,Wanjuan Song,Dan Guo,Shengran Wang,Jianlin Chen,Hongmei Xiao,Hua-Lin Huang

Frontiers in endocrinology（2023）

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摘要

Our findings expanded the known mutational spectrum of ZP2 associated with thin ZP and natural fertilization failure. Disruption of the integrity of the ZP impaired the TGF-β signaling pathway between oocytes and surrounding granulosa cells, leading to increased apoptosis and decreased developmental potential of oocytes.

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关键词

ZP2, female infertility, rat model, single-cell RNA sequencing, TGF-beta signaling pathway

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