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一种新的突变T96I与精子头部和环缺陷有关。

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

作者信息

Chen Kuan-Ru, Wang Han-Yu, Kuo Yung-Che, Lo Yu-Chih, Kuo Pao-Lin

机构信息

Department of Medical Research, E-Da Hospital, I Shou University, Kaohsiung, Taiwan.

Department of Obstetrics and Gynecology, Jen-Ai Hospital, Taichung, Taiwan.

出版信息

Front Cell Dev Biol. 2025 Jan 7;12:1498013. doi: 10.3389/fcell.2024.1498013. eCollection 2024.

DOI:10.3389/fcell.2024.1498013
PMID:39850804
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11756531/
Abstract

Infertility affects around 8%-12% of reproductive-aged couples and is a major health concern. Both genetic and environmental factors influence male infertility. 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 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 in male infertility and offer valuable insights for future detection in infertile men.

摘要

不孕症影响着约8%-12%的育龄夫妇，是一个主要的健康问题。遗传和环境因素都会影响男性不育症。 是一个关键的睾丸特异性基因，对男性生殖细胞的最终分化至关重要，由于检测到众多突变，它与男性不育症密切相关。本研究鉴定出一种导致男性不育的新型 突变。对携带T96I突变的精子进行免疫荧光染色和透射电子显微镜（TEM）分析，发现SEPT12和SEPT7在倾斜定位的环中共同定位。此外，携带T96I突变的精子表现出大的核空泡、不规则肿胀和顶体帽解聚。SEPT12 T96I在NT2/D1细胞中的过表达损害了SEPT7细丝的形成，强调了SEPT12细丝对精子形态和功能的重要性。我们的结果证明了 在男性不育症中的重要性，并为未来不育男性的检测提供了有价值的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0267/11756531/b633fc0f3a9c/fcell-12-1498013-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0267/11756531/c6a4b5ffeaab/fcell-12-1498013-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0267/11756531/8ee5332837a3/fcell-12-1498013-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0267/11756531/b633fc0f3a9c/fcell-12-1498013-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0267/11756531/c6a4b5ffeaab/fcell-12-1498013-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0267/11756531/8ee5332837a3/fcell-12-1498013-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0267/11756531/b633fc0f3a9c/fcell-12-1498013-g003.jpg

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1
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Front Cell Dev Biol. 2025 Jan 7;12:1498013. doi: 10.3389/fcell.2024.1498013. eCollection 2024.
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SEPT12-NDC1 Complexes Are Required for Mammalian Spermiogenesis.SEPT12-NDC1复合物是哺乳动物精子发生所必需的。
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本文引用的文献

1
Development of functional spermatozoa in mammalian spermiogenesis.哺乳动物精子发生中功能性精子的发育。
Development. 2024 Jul 15;151(14). doi: 10.1242/dev.202838. Epub 2024 Jul 22.
2
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.全外显子组数据优先级排序揭示了男性不育症中孟德尔病因的潜在重要性。来自意大利首个队列的报告。
PLoS One. 2023 Aug 4;18(8):e0288336. doi: 10.1371/journal.pone.0288336. eCollection 2023.
3
Septins as membrane influencers: direct play or in association with other cytoskeleton partners.
作为膜影响因子的Septins：直接作用还是与其他细胞骨架伙伴协同作用。
Front Cell Dev Biol. 2023 Feb 17;11:1112319. doi: 10.3389/fcell.2023.1112319. eCollection 2023.
4
Proper phosphorylation of septin 12 regulates septin 4 and soluble adenylyl cyclase expression to induce sperm capacitation.Septin 12的适当磷酸化调节Septin 4和可溶性腺苷酸环化酶的表达以诱导精子获能。
J Cell Physiol. 2023 Mar;238(3):597-609. doi: 10.1002/jcp.30951. Epub 2023 Jan 30.
5
Homozygous Loss of , but not its Haploinsufficiency, Leads to Male Infertility and Fertilization Failure.的纯合缺失而非其单倍剂量不足会导致男性不育和受精失败。
Front Cell Dev Biol. 2022 Apr 25;10:850052. doi: 10.3389/fcell.2022.850052. eCollection 2022.
6
Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects.对一组不育男性进行全外显子组测序，揭示了导致畸形精子症的新的致病基因，这些基因主要与精子头缺陷有关。
Hum Reprod. 2021 Dec 27;37(1):152-177. doi: 10.1093/humrep/deab229.
7
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.一项关于人类男性不育症已验证的单基因病因的系统综述：2020 年更新及对新兴基因-疾病关系的讨论。
Hum Reprod Update. 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030.
8
Male infertility.男性不育症。
Lancet. 2021 Jan 23;397(10271):319-333. doi: 10.1016/S0140-6736(20)32667-2. Epub 2020 Dec 10.
9
The SEPT12 complex is required for the establishment of a functional sperm head-tail junction.SEPT12 复合物对于功能性精子头-尾连接的建立是必需的。
Mol Hum Reprod. 2020 Jun 1;26(6):402-412. doi: 10.1093/molehr/gaaa031.
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Single-nucleotide polymorphism c.474G>A in the SEPT12 gene is a predisposing factor in male infertility.SEPT12基因中的单核苷酸多态性c.474G>A是男性不育的一个易感因素。
Mol Reprod Dev. 2020 Feb;87(2):251-259. doi: 10.1002/mrd.23310. Epub 2019 Dec 27.