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BRIEF RESEARCH REPORT article

Front. Cell Dev. Biol.
Sec. Molecular and Cellular Reproduction
Volume 12 - 2024 | doi: 10.3389/fcell.2024.1498013

A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects

Provisionally accepted
Kuan-Ru Chen Kuan-Ru Chen 1Han-Yu Wang Han-Yu Wang 1Yung-Che Kuo Yung-Che Kuo 2Yu-Chih Lo Yu-Chih Lo 3Pao-Lin Kuo Pao-Lin Kuo 1,4*
  • 1 E-Da Hospital, I-Shou University, Kaohsiung, Taiwan
  • 2 Taipei Medical University, Taipei, Taipei County, Taiwan
  • 3 National Cheng Kung University, Tainan, Tainan County, Taiwan
  • 4 National Cheng Kung University Hospital, Tainan, Taiwan

The final, formatted version of the article will be published soon.

    Infertility affects around 8-12% of reproductive-aged couples and is a major health concern. Both genetic and environmental factors influence male infertility. SEPTIN12 is a crucial testis-specific gene essential for the final differentiation of male germ cells and is strongly linked to male infertility due to numerous detected mutations. The present study identified a novel SEPTIN12 T96I mutation that causes male infertility. Immunofluorescence staining and transmission electron microscopy (TEM) analysis of T96I sperm revealed co-localization of SEPT12 and SEPT7 in the obliquely positioned annulus. In addition, the sperm carrying the T96I mutation demonstrated large nuclear vacuoles, irregular swelling, and decondensation of the acrosomal cap. The overexpression of SEPT12 T96I in NT2/D1 cells impaired the formation of SEPT7 filaments, emphasizing the significance of SEPT12 filaments for sperm morphology and function. Our results demonstrate the importance of SEPTIN12 T96I in male infertility and offer valuable insights for future detection in infertile men.

    Keywords: SEPTIN12, Sperm Head, Sperm annulus, Infertility, Mutation

    Received: 18 Sep 2024; Accepted: 20 Dec 2024.

    Copyright: © 2024 Chen, Wang, Kuo, Lo and Kuo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Pao-Lin Kuo, National Cheng Kung University Hospital, Tainan, Taiwan

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