Patients with acephalic spermatozoa syndrome linked to novel <i>TSGA10/PMFBP1</i> variants have favorable pregnancy outcomes from intracytoplasmic sperm injection

Liu, Gang; Xing, Xiaowei; Zhang, Huan; Zhu, Wenbing; Lin, Ge; Lu, Guangxiu; Li, Weina

doi:10.1111/cge.14007

Cited by 10 publications

(2 citation statements)

References 17 publications

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“…22231), and all subjects signed informed consent forms. Human sperm smears were preserved in our laboratory [23] .…”

Section: Methodsmentioning

confidence: 99%

WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis

Gao¹,

Liu²,

Huang³

et al. 2023

ABBS

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The WD40-repeat containing (WDR) proteins are enriched in the testis and play important roles in spermatogenesis. In the present study, we investigate the expression profile of WDR38, a novel member of the WDR protein family, in humans and mice. RT-qPCR (reverse transcription-quantitative polymerase chain reaction) results demonstrate that WDR38 mRNA is abundantly expressed in both the human and mouse testis. The expression of mouse Wdr38 is strictly regulated during development. Further immunofluorescence staining results show that WDR38 is located in the equatorial segment of the acrosome in human and mouse mature spermatozoa and is involved in acrosome biogenesis. Subcellular localization analysis reveals that the mouse Wdr38 protein is distributed in the perinuclear cytoplasm of transfected cells and colocalizes with the GTPase protein Rab19 and Golgi protein GM130. Coimmunoprecipitation (co-IP) assays demonstrate that Wdr38, Rab19 and GM130 interact with each other in the mouse testis and in HEK293T cells. In acrosome biogenesis, Wdr38, Rab19 and GM130 aggregate at the nuclear membrane to form large vesicles, and GM130 then detaches and moves towards the caudal region of the nucleus, whereas the Wdr38/Rab19 complex spreads along the dorsal nuclear edge and finally docks to the equatorial segment. These results indicate that WDR38 is a novel equatorial segment protein that interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis.

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“…22231), and all subjects signed informed consent forms. Human sperm smears were preserved in our laboratory [23] .…”

Section: Methodsmentioning

confidence: 99%

WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis

Gao¹,

Liu²,

Huang³

et al. 2023

ABBS

Self Cite

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“…SPATA6 is the first protein identified as a component of the HTCA using the knockout mouse model, and is crucial for the formation of the sperm HTCA (Yuan et al, 2015). Deficiencies in SUN5 (Elkhatib et al, 2017; Fang et al, 2018; Liu et al, 2020; Sha et al, 2018; Shang et al, 2018; Shang et al, 2017; Xiang et al, 2022; Zhang et al, 2021; Zhu et al, 2016) and PMFBP1 (Deng et al, 2022; Liu et al, 2020; Liu et al, 2021; Lu et al, 2021; Nie et al, 2022; Sha et al, 2019; Zhu et al, 2018) have been demonstrated to be associated with ASS in both humans and mice. The centriole-related protein, CENTLEIN, serves as a bona fide linker between SUN5 and PMFBP1 to participates in the HTCA assembly (Zhang et al, 2021).…”

Section: Introductionmentioning

confidence: 99%

CCDC113 stabilizes sperm axoneme and head-tail coupling apparatus to ensure male fertility

Wu,

Long,

Yang

et al. 2024

Preprint

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The structural integrity of the sperm is crucial for male fertility, defects in sperm head-tail linkage and flagellar axoneme are associated with acephalic spermatozoa syndrome (ASS) and the multiple morphological abnormalities of the sperm flagella (MMAF). Notably, impaired head-tail coupling apparatus (HTCA) often accompanies defects in the flagellum structure, however, the molecular mechanisms underlying this phenomenon remain elusive. Here, we identified an evolutionarily conserved coiled-coil domain-containing (CCDC) protein, CCDC113, and found the disruption of CCDC113 produced spermatozoa with disorganized sperm flagella and HTCA, which caused male infertility. Further analysis revealed that CCDC113 could bind to CFAP57 and CFAP91, and function as an adaptor protein for the connection of radial spokes, nexin-dynein regulatory complex (N-DRC) and doublet microtubules (DMTs) in sperm axoneme. Moreover, CCDC113 was identified as a structural component of HTCA, collaborating with SUN5 and CENTELIN to connect sperm head to tail during spermiogenesis. Together, our studies reveal that CCDC113 serve as critical hub for sperm axoneme and HTCA stabilization, providing insights into the potential pathogenesis of infertility associated with human CCDC113 mutations.

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Loss of PMFBP1 Disturbs Mouse Spermatogenesis by Downregulating HDAC3 Expression

Yao

et al. 2023

J Assist Reprod Genet

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Patients with acephalic spermatozoa syndrome linked to novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from intracytoplasmic sperm injection

Cited by 10 publications

References 17 publications

WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis

WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis

CCDC113 stabilizes sperm axoneme and head-tail coupling apparatus to ensure male fertility

Loss of PMFBP1 Disturbs Mouse Spermatogenesis by Downregulating HDAC3 Expression

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