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The spectrum of pre-mRNA splicing in autism.
Engal, Eden; Zhang, Zhenwei; Geminder, Ophir; Jaffe-Herman, Shiri; Kay, Gillian; Ben-Hur, Asa; Salton, Maayan.
Afiliación
  • Engal E; Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel Canada, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Zhang Z; State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.
  • Geminder O; Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel Canada, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Jaffe-Herman S; Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel Canada, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Kay G; Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel Canada, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Ben-Hur A; Department of Computer Science, Colorado State University, Fort Collins, Colorado, USA.
  • Salton M; Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel Canada, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Wiley Interdiscip Rev RNA ; 15(2): e1838, 2024.
Article en En | MEDLINE | ID: mdl-38509732
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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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Trastorno del Espectro Autista Límite: Humans Idioma: En Revista: Wiley Interdiscip Rev RNA Año: 2024 Tipo del documento: Article País de afiliación: Israel

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Trastorno del Espectro Autista Límite: Humans Idioma: En Revista: Wiley Interdiscip Rev RNA Año: 2024 Tipo del documento: Article País de afiliación: Israel