CEP128 is involved in spermatogenesis in humans and mice

Xueguang Zhang, Lingbo Wang, Yongyi Ma, Yan Wang, Hongqian Liu, Mohan Liu, Lang Qin, Jinghong Li, Chuan Jiang, Xiaojian Zhang, Xudong Shan, Yuliang Liu, Jinsong Li, Yaqian Li, Rui Zheng, Yongkang Sun, Jianfeng Sun, Xiangyou Leng, Yan Liang, Feng Zhang (), Xiaohui Jiang (), Yihong Yang () and Ying Shen ()
Additional contact information
Xueguang Zhang: Sichuan University
Lingbo Wang: Obstetrics and Gynecology Hospital of Fudan University
Yongyi Ma: Third Military Medical University (Army Medical University)
Yan Wang: Sichuan University
Hongqian Liu: Sichuan University
Mohan Liu: Sichuan University
Lang Qin: Sichuan University
Jinghong Li: Sichuan University
Chuan Jiang: Sichuan University
Xiaojian Zhang: Sichuan Academy of Medical Sciences of Sichuan Provincial People’s Hospital
Xudong Shan: West China School of Basic Medical Sciences and Forensic Medicine
Yuliang Liu: Chengdu Research Base of Giant Panda Breeding
Jinsong Li: Chinese Academy of Sciences
Yaqian Li: Sichuan University
Rui Zheng: Sichuan University
Yongkang Sun: Sichuan University
Jianfeng Sun: Teaching Hospital of Chengdu University of TCM
Xiangyou Leng: Sichuan University
Yan Liang: Sichuan University
Feng Zhang: Obstetrics and Gynecology Hospital of Fudan University
Xiaohui Jiang: Sichuan University
Yihong Yang: Sichuan University
Ying Shen: Sichuan University

Nature Communications, 2022, vol. 13, issue 1, 1-17

Abstract: Abstract Centrosomal proteins are necessary components of the centrosome, a conserved eukaryotic organelle essential to the reproductive process. However, few centrosomal proteins have been genetically linked to fertility. Herein we identify a homozygous missense variant of CEP128 (c.665 G > A [p.R222Q]) in two infertile males. Remarkably, male homozygous knock-in mice harboring the orthologous CEP128R222Q variant show anomalies in sperm morphology, count, and motility. Moreover, Cep128 knock-out mice manifest male infertility associated with disrupted sperm quality. We observe defective sperm flagella in both homozygous Cep128 KO and KI mice; the cilia development in other organs is normal—suggesting that CEP128 variants predominantly affected the ciliogenesis in the testes. Mechanistically, CEP128 is involved in male reproduction via regulating the expression of genes and/or the phosphorylation of TGF-β/BMP-signalling members during spermatogenesis. Altogether, our findings unveil a crucial role for CEP128 in male fertility and provide important insights into the functions of centrosomal proteins in reproductive biology.

Date: 2022
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DOI: 10.1038/s41467-022-29109-7

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