从微小外显子到大见解:微外显子的扩展领域。

IF 7.9 2区 生物学 Q1 GENETICS & HEREDITY
Tahnee Mackensen, Manuel Irimia
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引用次数: 0

摘要

在过去的十年中,人们发现了一组非常短(3-51 nt)且高度保守的微外显子,它们对一系列不同的蛋白质功能和相互作用具有重要影响。RNA测序和分析管道的进步揭示了微外显子选择性剪接在组织和细胞类型中的富集,特别是在中枢神经系统中。微外显子被认为通过在包含时保留蛋白质的阅读框来微调重要的发育过程,如突触发生。微外显子剪接的失调与几种神经系统疾病有关,包括自闭症谱系障碍和精神分裂症,以及糖尿病和各种癌症等代谢紊乱。这篇综述讨论了关于微外显子包涵的分子和有机体后果的文献,强调了它们的进化保守性、组织特异性和功能多样性。该研究还探索了微外显子剪接和剪接调节因子如SRRM3和SRRM4的治疗干预的潜力,为靶向与微外显子错误调控相关的疾病提供了视角。需要更多的研究来更好地理解不同组织、病理和物种之间微外显子功能的异同。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
From Tiny Exons to Big Insights: The Expanding Field of Microexons.

Over the last decade, a set of very short (3-51 nt) and highly conserved microexons have been found to crucially influence a set of diverse protein functions and interactions. Advancements in RNA sequencing and analysis pipelines have revealed an enrichment for the alternative splicing of microexons in a subset of tissues and cell types, especially across the central nervous system. Microexons are thought to fine-tune important developmental processes such as synaptogenesis by preserving the protein's reading frame upon inclusion. Dysregulation of microexon splicing has been linked to several neurological conditions, including autism spectrum disorder and schizophrenia, as well as metabolic disorders like diabetes and various cancer types. This review discusses the expanding body of literature on the molecular and organismal consequences of microexon inclusion, emphasizing their evolutionary conservation, tissue specificity, and functional diversity. It also explores the potential for therapeutic interventions, including pharmacological modulation, on microexon splicing and splicing regulators like SRRM3 and SRRM4, offering perspectives on targeting diseases related to microexon misregulation. More research is needed to better understand similarities and differences between microexon functions across tissues, pathologies, and species.

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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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