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CEP128 is involved in spermatogenesis in humans and mice

Author

Listed:
  • 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
    Sichuan University)

  • Hongqian Liu

    (Sichuan University
    West China Second University Hospital, Sichuan University)

  • Mohan Liu

    (Sichuan University)

  • Lang Qin

    (Sichuan University
    Sichuan University)

  • Jinghong Li

    (Sichuan University
    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
    Chengdu University of Traditional Chinese 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
    Fudan University)

  • Xiaohui Jiang

    (Sichuan University
    Sichuan University)

  • Yihong Yang

    (Sichuan University
    Sichuan University)

  • Ying Shen

    (Sichuan University)

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.

Suggested Citation

  • 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 , 2022. "CEP128 is involved in spermatogenesis in humans and mice," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
    • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-29109-7
    DOI: 10.1038/s41467-022-29109-7
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    References listed on IDEAS

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    1. Joon Kim & Ji Eun Lee & Susanne Heynen-Genel & Eigo Suyama & Keiichiro Ono & KiYoung Lee & Trey Ideker & Pedro Aza-Blanc & Joseph G. Gleeson, 2010. "Functional genomic screen for modulators of ciliogenesis and cilium length," Nature, Nature, vol. 464(7291), pages 1048-1051, April.
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    Cited by:

    1. Xueguang Zhang & Gelin Huang & Ting Jiang & Lanlan Meng & Tongtong Li & Guohui Zhang & Nan Wu & Xinyi Chen & Bingwang Zhao & Nana Li & Sixian Wu & Junceng Guo & Rui Zheng & Zhiliang Ji & Zhigang Xu & , 2024. "CEP112 coordinates translational regulation of essential fertility genes during spermiogenesis through phase separation in humans and mice," Nature Communications, Nature, vol. 15(1), pages 1-20, December.

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