NSUN2 is critical for mouse oocyte meiosis and early embryonic development.

IF 3.7 3区生物学 Q1 DEVELOPMENTAL BIOLOGY Reproduction Pub Date : 2024-10-28 Print Date: 2024-12-01 DOI:10.1530/REP-24-0235

Tengteng Xu, Min Gao, Ling Zhang, Tianqi Cao, Yanling Qiu, Simiao Liu, Wenlian Wu, Yitong Zhou, Haiying Liu, Rui Zhang, Xiaohong Ruan, Junjiu Huang

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Abstract

In brief: The mechanism by which the NSUN2 mutation causes female infertility is still unclear. This study reveals the role and potential mechanism of NSUN2 in mouse oocyte maturation and early embryonic development, and provides a resource for elucidating female infertility with NSUN2 mutations.

Abstract: Biallelic variants in the NSUN2 gene cause a rare intellectual disability and female infertility in humans. However, the function and mechanism of NSUN2 during mouse oocyte meiotic maturation and early embryonic development are unknown. Here, we show that NSUN2 is important for mouse oocyte meiotic maturation and early embryonic development. Specifically, NSUN2 is required for ovarian development and oocyte meiosis, and deletion of Nsun2 reduces oocyte maturation and increases the rates of misaligned chromosomes and aberrant spindles. In addition, Nsun2 deficiency results in a low blastocyst rate and impaired blastocyst quality. Strikingly, loss of Nsun2 leads to approximately 35% of embryos being blocked at the 2-cell stage, and Nsun2 knockdown impairs zygotic genome activation at the 2-cell stage. Taken together, these findings suggest that NSUN2 plays a critical role in mouse oocyte meiotic maturation and early embryonic development, and provide key resources for elucidating female infertility with NSUN2 mutations.

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Nsun2对小鼠卵母细胞减数分裂和早期胚胎发育至关重要。

NSUN2 基因的双倍变体会导致人类罕见的智力障碍和女性不孕症。然而，NSUN2 在小鼠卵母细胞减数分裂成熟和早期胚胎发育过程中的功能和机制尚不清楚。在这里，我们发现 NSUN2 对小鼠卵母细胞减数分裂成熟和早期胚胎发育非常重要。具体来说，NSUN2是卵巢发育和卵母细胞减数分裂所必需的，缺失Nsun2会降低卵母细胞的成熟度，增加染色体错位和异常纺锤体的发生率。此外，缺乏 Nsun2 会导致囊胚率降低和囊胚质量受损。令人震惊的是，Nsun2 的缺失会导致约 35% 的胚胎在 2 细胞阶段受阻，而 Nsun2 的敲除会损害 2 细胞阶段的子代基因组激活。综上所述，这些研究结果表明，NSUN2在小鼠卵母细胞减数分裂成熟和早期胚胎发育中起着关键作用，并为阐明NSUN2突变导致的女性不孕症提供了关键资源。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Reproduction 生物-发育生物学

CiteScore

7.40

自引率

2.60%

发文量

199

审稿时长

4-8 weeks

期刊介绍： Reproduction is the official journal of the Society of Reproduction and Fertility (SRF). It was formed in 2001 when the Society merged its two journals, the Journal of Reproduction and Fertility and Reviews of Reproduction. Reproduction publishes original research articles and topical reviews on the subject of reproductive and developmental biology, and reproductive medicine. The journal will consider publication of high-quality meta-analyses; these should be submitted to the research papers category. The journal considers studies in humans and all animal species, and will publish clinical studies if they advance our understanding of the underlying causes and/or mechanisms of disease. Scientific excellence and broad interest to our readership are the most important criteria during the peer review process. The journal publishes articles that make a clear advance in the field, whether of mechanistic, descriptive or technical focus. Articles that substantiate new or controversial reports are welcomed if they are noteworthy and advance the field. Topics include, but are not limited to, reproductive immunology, reproductive toxicology, stem cells, environmental effects on reproductive potential and health (eg obesity), extracellular vesicles, fertility preservation and epigenetic effects on reproductive and developmental processes.