IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v13y2022i1d10.1038_s41467-022-29109-7.html
   My bibliography  Save this article

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
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41467-022-29109-7
    File Function: Abstract
    Download Restriction: no
    File URL: https://libkey.io/10.1038/s41467-022-29109-7?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    References listed on IDEAS

    as
    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.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Muqing Cao & Xiaoxiao Zou & Chaoyi Li & Zaisheng Lin & Ni Wang & Zhongju Zou & Youqiong Ye & Joachim Seemann & Beth Levine & Zaiming Tang & Qing Zhong, 2023. "An actin filament branching surveillance system regulates cell cycle progression, cytokinesis and primary ciliogenesis," Nature Communications, Nature, vol. 14(1), pages 1-18, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-29109-7. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.