An essential role of the E3 ubiquitin ligase RNF126 in ensuring meiosis I completion during spermatogenesis

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	An essential role of the E3 ubiquitin ligase RNF126 in ensuring meiosis I completion during spermatogenesis
	Liu, WJ; Sun, XY; Li, FB; Jiang, QY; An, JT; Wu, YY; Yang, JY; Qin, M; Zhao, YX; Tang, YJ; Wu, TY; Yan, ZQ; Jiang, DW; Liu, R; Li, WH; Zhi, X; Chen, CS
	2025
发表期刊	J. Adv. Res.
ISSN	2090-1232
卷号	73 页码:231-245
摘要	Introduction: Homologous recombination repair during meiosis is essential for the exchange of genetic information between sister chromosomes, underpinning spermatogenesis and, consequently, fertility. The disruption of this process can lead to infertility, highlighting the importance of identifying the molecular actors involved. Objectives: This study aims to elucidate the role of the E3 ubiquitin ligase Rnf126 in spermatogenesis and its impact on fertility, particularly through its involvement in meiotic homologous recombination repair. Methods: We used heterozygous and homozygous Rnf126 deletion models in mouse testes to examine the consequences on testicular health, sperm count, and the process of spermatogenesis. Additionally, we explored the association between RNF126 gene missense variants and nonobstructive male infertility in patients, with a focus on their functional impact on the protein's ubiquitin ligase activity. Results: Rnf126 deletion led to testicular atrophy, disrupted seminiferous tubule structure, reduced sperm count, and spermatogenesis arrest at meiotic prophase I. Furthermore, male mice exhibited impaired homologous recombination repair and increased apoptosis within the seminiferous tubules. We identified four missense variants of the RNF126 (V68M, R241H, E261A, D253N) associated with male infertility. Specifically, the E261A and D253N variants, located in the RING domain, directly compromised the E3 ubiquitin ligase activity of RNF126. Conclusion: Our findings demonstrate the pivotal role of RNF126 in maintaining spermatogenesis and fer-tility, offering insights into the molecular mechanisms underlying male infertility. The identified RNF126 variants present novel targets for diagnostic and therapeutic strategies in treating nonobstructive male infertility. (c) 2024 The Authors. Published by Elsevier B.V. on behalf of Cairo University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
收录类别	SCIE
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/15210
专题	其他
推荐引用方式 GB/T 7714	Liu, WJ,Sun, XY,Li, FB,et al. An essential role of the E3 ubiquitin ligase RNF126 in ensuring meiosis I completion during spermatogenesis[J]. J. Adv. Res.,2025,73:231-245.
APA	Liu, WJ.,Sun, XY.,Li, FB.,Jiang, QY.,An, JT.,...&Chen, CS.(2025).An essential role of the E3 ubiquitin ligase RNF126 in ensuring meiosis I completion during spermatogenesis.J. Adv. Res.,73,231-245.
MLA	Liu, WJ,et al."An essential role of the E3 ubiquitin ligase RNF126 in ensuring meiosis I completion during spermatogenesis".J. Adv. Res. 73(2025):231-245.

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