Article
Loss-of-function mutations in CEP78 cause male infertility in humans and mice.
Science advances - 7 Oct 2022
Zhang Xueguang, Zheng Rui, Liang Chen, Liu Haotian, Zhang Xiaozhen, Ma Yongyi, Liu Mohan, Zhang Wei, Yang Yang, Liu Man, Jiang Chuan, Ren Qingjia, Wang Yan, Chen Suren, Yang Yihong, Shen Ying
Abstract excerpt
Centrosomal protein dysfunction might cause ciliopathies. However, the role of centrosomal proteins in male infertility remains poorly defined. Here, we identified a pathogenic splicing mutation in CEP78 in male infertile patients with severely reduced sperm number and motility, and the typical multiple morphological abnormalities of the sperm flagella phenotype. We further created Cep78 knockout mice, which...
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