A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects
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 infert...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Cell and Developmental Biology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcell.2024.1498013/full |
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| author | Kuan-Ru Chen Han-Yu Wang Han-Yu Wang Yung-Che Kuo Yu-Chih Lo Pao-Lin Kuo Pao-Lin Kuo Pao-Lin Kuo |
| author_facet | Kuan-Ru Chen Han-Yu Wang Han-Yu Wang Yung-Che Kuo Yu-Chih Lo Pao-Lin Kuo Pao-Lin Kuo Pao-Lin Kuo |
| author_sort | Kuan-Ru Chen |
| collection | DOAJ |
| description | 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 SEPTIN12T96I 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 SEPTIN12T96I in male infertility and offer valuable insights for future detection in infertile men. |
| format | Article |
| id | doaj-art-fe84e3ba07ab4607bb6ff9936b39d376 |
| institution | Kabale University |
| issn | 2296-634X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj-art-fe84e3ba07ab4607bb6ff9936b39d3762025-01-07T06:40:55ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2025-01-011210.3389/fcell.2024.14980131498013A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defectsKuan-Ru Chen0Han-Yu Wang1Han-Yu Wang2Yung-Che Kuo3Yu-Chih Lo4Pao-Lin Kuo5Pao-Lin Kuo6Pao-Lin Kuo7Department of Medical Research, E-Da Hospital, I Shou University, Kaohsiung, TaiwanDepartment of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung, TaiwanDepartment of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, TaiwanTMU Research Center for Cell Therapy and Regeneration Medicine, Taipei Medical University, Taipei, TaiwanDepartment of Biotechnology and Bioindustry Sciences, College of Bioscience and Biotechnology, National Cheng Kung University, Tainan, TaiwanDepartment of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung, TaiwanDepartment of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, TaiwanDepartment of Obstetrics and Gynecology, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, TaiwanInfertility 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 SEPTIN12T96I 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 SEPTIN12T96I in male infertility and offer valuable insights for future detection in infertile men.https://www.frontiersin.org/articles/10.3389/fcell.2024.1498013/fullSEPTIN12sperm headsperm annulusinfertilitymutation |
| spellingShingle | Kuan-Ru Chen Han-Yu Wang Han-Yu Wang Yung-Che Kuo Yu-Chih Lo Pao-Lin Kuo Pao-Lin Kuo Pao-Lin Kuo A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects Frontiers in Cell and Developmental Biology SEPTIN12 sperm head sperm annulus infertility mutation |
| title | A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects |
| title_full | A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects |
| title_fullStr | A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects |
| title_full_unstemmed | A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects |
| title_short | A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects |
| title_sort | novel sept12 mutation t96i is associated with sperm head and annulus defects |
| topic | SEPTIN12 sperm head sperm annulus infertility mutation |
| url | https://www.frontiersin.org/articles/10.3389/fcell.2024.1498013/full |
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