Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Post-Transcriptional Modification by Alternative Splicing in Cardiovascular Development and Congenital Heart Defects

Version 1 : Received: 29 September 2022 / Approved: 30 September 2022 / Online: 30 September 2022 (08:23:54 CEST)
Version 2 : Received: 23 December 2022 / Approved: 27 December 2022 / Online: 27 December 2022 (10:54:22 CET)

How to cite: Mehta, Z.; Touma, M. Post-Transcriptional Modification by Alternative Splicing in Cardiovascular Development and Congenital Heart Defects. Preprints 2022, 2022090479. https://doi.org/10.20944/preprints202209.0479.v1 Mehta, Z.; Touma, M. Post-Transcriptional Modification by Alternative Splicing in Cardiovascular Development and Congenital Heart Defects. Preprints 2022, 2022090479. https://doi.org/10.20944/preprints202209.0479.v1

Abstract

Advancements in genomics, bioinformatics and genome editing have uncovered new dimensions in gene regulation. Post-transcriptional modifications by the alternative splicing of mRNA transcripts are critical regulatory mechanisms of mammalian gene expression. In the heart, there is an expanding interest in elucidating the role of alternative splicing in transcriptome regulation. Substantial efforts have been directed towards investigating this process in heart development and failure. However, few studies have shed light on alternative splicing products and their dysregulation in congenital heart defects (CHDs). While elegant reports have shown the crucial roles of RNA binding proteins (RBPs) in orchestrating splicing transitions during heart development and failure, the impact of RBPs dysregulation or genetic variation on CHDs has been fully addressed. Herein, we review the current understanding of alternative splicing and RBPs’ roles in heart development and CHDs and discuss the impacts of perinatal splicing transition and its dysregulation in CHDs. We further summarize discoveries made of causal splicing variants in key transcription factors that have been implicated in CHDs. Improved understanding of the roles of alternative splicing in heart development and CHDs may potentially inform novel preventive and therapeutic advancements for newborn infants with CHDs.

Keywords

Posttranscriptional Modification; Alternative Splicing; Congenital Heart Defects; Transcriptome; Splicing Variants

Subject

Biology and Life Sciences, Biochemistry and Molecular Biology

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