The chromatin roots of abnormal splicing in autism

Eden Engal; Mai Baker; Maayan Salton

doi:10.1016/j.tig.2022.06.001

The chromatin roots of abnormal splicing in autism

Trends Genet. 2022 Sep;38(9):892-894. doi: 10.1016/j.tig.2022.06.001. Epub 2022 Jun 21.

Authors

Eden Engal¹, Mai Baker¹, Maayan Salton²

Affiliations

¹ Department of Biochemistry and Molecular Biology, Institute for Medical Research Israel-Canada, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel.
² Department of Biochemistry and Molecular Biology, Institute for Medical Research Israel-Canada, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel. Electronic address: maayan.salton@mail.huji.ac.il.

PMID: 35750536
DOI: 10.1016/j.tig.2022.06.001

Abstract

Spatiotemporal gene expression drives neurodevelopment. Therefore, abnormal expression during development results in atypical brain function. Alterations in gene expression have been described in autism spectrum disorder (ASD). Here, we focus on one aspect of gene expression, pre-mRNA splicing, specifically, the mechanism of its regulation by chromatin and how this is altered in ASD.

Keywords: autism spectrum disorder; chromatin; pre-mRNA splicing; splicing regulation.

MeSH terms

Autism Spectrum Disorder* / genetics
Autistic Disorder* / genetics
Brain
Chromatin / genetics
Humans
RNA Splicing / genetics

Substances

Chromatin