The spectrum of pre-mRNA splicing in autism

Eden Engal, Zhenwei Zhang, Ophir Geminder, Shiri Jaffe-Herman, Gillian Kay, Asa Ben-Hur, Maayan Salton*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

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.

Original languageAmerican English
Article numbere1838
JournalWiley interdisciplinary reviews. RNA
Volume15
Issue number2
DOIs
StatePublished - 1 Mar 2024

Bibliographical note

Publisher Copyright:
© 2024 The Authors. WIREs RNA published by Wiley Periodicals LLC.

Keywords

  • autism spectrum disorder
  • pre-mRNA splicing
  • spliceosome
  • splicing factors
  • splicing regulation

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