Article
Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility.
Human genetics - 1 Aug 2017
Liu Wenqiang, Li Kunming, Bai Dandan, Yin Jiqing, Tang Yuanyuan, Chi Fengli, Zhang Linfeng, Wang Yu, Pan Jiaping, Liang Shanshan, Guo Yi, Ruan Jingling, Kou Xiaochen, Zhao Yanhong, Wang Hong, Chen Jiayu, Teng Xiaoming, Gao Shaorong
Abstract excerpt
The zona pellucida (ZP) is an extracellular matrix universally surrounding mammalian eggs, which is essential for oogenesis, fertilization, and pre-implantation embryo development. Here, we identified two novel heritable mutations of ZP2 and ZP3, both occurring in an infertile female patient with ZP-abnormal eggs. Mouse models with the same mutations were generated by CRISPR/Cas9 gene editing system, and oocytes...
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