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环状结构:在精子鞭毛生物发生和男性生育中的组成、作用及重要性

The annulus: composition, role and importance in sperm flagellum biogenesis and male fertility.

作者信息

Whitfield Marjorie

机构信息

Institute for Advanced Biosciences, INSERM U 1209, CNRS UMR 5309, Université Grenoble Alpes, Team 'Physiopathology and Pathophysiology of Sperm cells', 38000, Grenoble, France.

出版信息

Basic Clin Androl. 2024 Dec 16;34(1):25. doi: 10.1186/s12610-024-00241-2.

DOI:10.1186/s12610-024-00241-2
PMID:39676174
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11648301/
Abstract

The annulus is an electron-dense ring structure that surrounds the axoneme and compartmentalizes the sperm flagellum into two parts: the midpiece and the principal piece. The function of the annulus as a diffusion barrier in the mature spermatozoon is now well described but its function during spermiogenesis remains unclear. The intriguing spatio-temporal dynamics of the annulus during spermiogenesis and its position at the interface of the two main flagellar compartments have been highlighted for more than 50 years, and suggest a major role in this process. During the last decade, numerous studies contributed in establishing a repertoire of proteins known to be located at the annulus. Mutant mouse models of invalidation of these proteins have provided essential information and clues for novel hypotheses regarding the functions and regulation of this structure. Importantly, the recent identification in humans of homozygous mutations of genes coding for annulus proteins and leading to sterility have reinforced the importance of this ring structure for sperm physiology and male fertility. This review provides a comprehensive description of all the knowledge obtained in the last several years regarding the annulus composition and functions, both in mice and in humans.

摘要

环是一种电子致密的环形结构,围绕着轴丝,并将精子鞭毛分为两部分:中段和主段。环在成熟精子中作为扩散屏障的功能现已得到充分描述,但其在精子发生过程中的功能仍不清楚。在精子发生过程中环有趣的时空动态及其在两个主要鞭毛区室界面处的位置已被关注了50多年,这表明它在这个过程中起主要作用。在过去十年中,大量研究致力于确定已知位于环上的蛋白质清单。这些蛋白质缺失的突变小鼠模型为有关该结构的功能和调控的新假说提供了重要信息和线索。重要的是,最近在人类中鉴定出编码环蛋白的基因的纯合突变并导致不育,这进一步强调了这种环形结构对精子生理和男性生育能力的重要性。本综述全面描述了过去几年在小鼠和人类中获得的关于环的组成和功能的所有知识。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c6/11648301/f6f87c391788/12610_2024_241_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c6/11648301/4963f9e06cb0/12610_2024_241_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c6/11648301/91567a3bdf3f/12610_2024_241_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c6/11648301/932236da4d4b/12610_2024_241_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c6/11648301/f6f87c391788/12610_2024_241_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c6/11648301/4963f9e06cb0/12610_2024_241_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c6/11648301/91567a3bdf3f/12610_2024_241_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c6/11648301/932236da4d4b/12610_2024_241_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/83c6/11648301/f6f87c391788/12610_2024_241_Fig4_HTML.jpg

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1
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Basic Clin Androl. 2024 Dec 16;34(1):25. doi: 10.1186/s12610-024-00241-2.
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本文引用的文献

1
The Cby3/ciBAR1 complex positions the annulus along the sperm flagellum during spermiogenesis.Cby3/ciBAR1 复合物在精子发生过程中使环沿着精子鞭毛定位。
J Cell Biol. 2024 Mar 4;223(3). doi: 10.1083/jcb.202307147. Epub 2024 Jan 10.
2
Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects.AGTPBP1 中的有害遗传变化导致精子头部和鞭毛缺陷的畸形精子症。
J Cell Mol Med. 2024 Jan;28(2):e18031. doi: 10.1111/jcmm.18031. Epub 2023 Nov 8.
3
ADGB variants cause asthenozoospermia and male infertility.
ADGB 变异导致弱精症和男性不育。
Hum Genet. 2023 Jun;142(6):735-748. doi: 10.1007/s00439-023-02546-0. Epub 2023 Mar 30.
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
Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.SEPTIN4(C17ORF47)中的双等位基因功能丧失突变,该基因编码一种保守的环带蛋白,导致人类中段精子变薄和男性不育。
Hum Mutat. 2022 Dec;43(12):2079-2090. doi: 10.1002/humu.24475. Epub 2022 Oct 2.
6
Androglobin, a chimeric mammalian globin, is required for male fertility.雄激素结合蛋白,一种嵌合的哺乳动物球蛋白,是雄性生育所必需的。
Elife. 2022 Jun 14;11:e72374. doi: 10.7554/eLife.72374.
7
The heterozygous mutations of SLC26A8 are not the main actors for male infertility.SLC26A8的杂合突变并非男性不育的主要因素。
Hum Mutat. 2022 May;43(5):604-612. doi: 10.1002/humu.24355. Epub 2022 Apr 7.
8
Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.SLC26A8 中的新型双等位基因突变导致人类严重的弱精症,其原因是中段缺陷:对一种假定的显性遗传病的深入了解。
Hum Mutat. 2022 Mar;43(3):434-443. doi: 10.1002/humu.24322. Epub 2021 Dec 30.
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.
10
Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†.敲除小鼠受体辅助蛋白 6 导致精子功能和形态缺陷。
Biol Reprod. 2020 May 26;102(6):1234-1247. doi: 10.1093/biolre/ioaa024.