The spectrum of pre-mRNA splicing in autism.

IF 6.4 2区 生物学 Q1 CELL BIOLOGY Wiley Interdisciplinary Reviews: RNA Pub Date : 2024-03-01 DOI:10.1002/wrna.1838
Eden Engal, Zhenwei Zhang, Ophir Geminder, Shiri Jaffe-Herman, Gillian Kay, Asa Ben-Hur, Maayan Salton
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Abstract

Disruptions in spatiotemporal gene expression can result in atypical brain function. Specifically, autism spectrum disorder (ASD) is characterized by abnormalities in pre-mRNA splicing. Abnormal splicing patterns have been identified in the brains of individuals with ASD, and mutations in splicing factors have been found to contribute to neurodevelopmental delays associated with ASD. Here we review studies that shed light on the importance of splicing observed in ASD and that explored the intricate relationship between splicing factors and ASD, revealing how disruptions in pre-mRNA splicing may underlie ASD pathogenesis. We provide an overview of the research regarding all splicing factors associated with ASD and place a special emphasis on five specific splicing factors-HNRNPH2, NOVA2, WBP4, SRRM2, and RBFOX1-known to impact the splicing of ASD-related genes. In the discussion of the molecular mechanisms influenced by these splicing factors, we lay the groundwork for a deeper understanding of ASD's complex etiology. Finally, we discuss the potential benefit of unraveling the connection between splicing and ASD for the development of more precise diagnostic tools and targeted therapeutic interventions. This article is categorized under: RNA in Disease and Development > RNA in Disease RNA Evolution and Genomics > RNA and Ribonucleoprotein Evolution RNA Evolution and Genomics > Computational Analyses of RNA RNA-Based Catalysis > RNA Catalysis in Splicing and Translation.

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自闭症的前核糖核酸剪接谱。
时空基因表达紊乱可导致非典型大脑功能。具体来说,自闭症谱系障碍(ASD)的特点是前核糖核酸(pre-mRNA)剪接异常。在自闭症谱系障碍患者的大脑中发现了异常的剪接模式,并且发现剪接因子的突变导致了与自闭症谱系障碍相关的神经发育迟缓。在此,我们回顾了一些研究,这些研究揭示了剪接在 ASD 中的重要性,探讨了剪接因子与 ASD 之间错综复杂的关系,揭示了前核糖核酸(pre-mRNA)剪接紊乱可能是 ASD 发病机制的基础。我们概述了与 ASD 相关的所有剪接因子的研究情况,并特别强调了五个已知会影响 ASD 相关基因剪接的特定剪接因子--HNRNPH2、NOVA2、WBP4、SRRM2 和 RBFOX1。在讨论受这些剪接因子影响的分子机制时,我们为深入了解 ASD 的复杂病因奠定了基础。最后,我们讨论了揭示剪接与 ASD 之间的联系对于开发更精确的诊断工具和有针对性的治疗干预措施的潜在益处。本文归类于疾病和发育中的 RNA > 疾病中的 RNA RNA 进化和基因组学 > RNA 和核糖核蛋白进化 RNA 进化和基因组学 > RNA 的计算分析 RNA 催化 > 剪接和翻译中的 RNA 催化。
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
CiteScore
14.80
自引率
4.10%
发文量
67
审稿时长
6-12 weeks
期刊介绍: WIREs RNA aims to provide comprehensive, up-to-date, and coherent coverage of this interesting and growing field, providing a framework for both RNA experts and interdisciplinary researchers to not only gain perspective in areas of RNA biology, but to generate new insights and applications as well. Major topics to be covered are: RNA Structure and Dynamics; RNA Evolution and Genomics; RNA-Based Catalysis; RNA Interactions with Proteins and Other Molecules; Translation; RNA Processing; RNA Export/Localization; RNA Turnover and Surveillance; Regulatory RNAs/RNAi/Riboswitches; RNA in Disease and Development; and RNA Methods.
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