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Genes 2018, 9(1), 18; doi:10.3390/genes9010018

Muscle-Specific Mis-Splicing and Heart Disease Exemplified by RBM20

Animal Science, University of Wyoming, Laramie, WY 82071, USA
Center for Cardiovascular Research and integrative medicine, University of Wyoming, Laramie, WY 82071, USA
Author to whom correspondence should be addressed.
Received: 20 November 2017 / Revised: 23 December 2017 / Accepted: 27 December 2017 / Published: 5 January 2018
(This article belongs to the Special Issue Aberrant Pre-mRNA Splicing in Disease)
View Full-Text   |   Download PDF [6526 KB, uploaded 5 January 2018]   |  


Alternative splicing is an essential post-transcriptional process to generate multiple functional RNAs or proteins from a single transcript. Progress in RNA biology has led to a better understanding of muscle-specific RNA splicing in heart disease. The recent discovery of the muscle-specific splicing factor RNA-binding motif 20 (RBM20) not only provided great insights into the general alternative splicing mechanism but also demonstrated molecular mechanism of how this splicing factor is associated with dilated cardiomyopathy. Here, we review our current knowledge of muscle-specific splicing factors and heart disease, with an emphasis on RBM20 and its targets, RBM20-dependent alternative splicing mechanism, RBM20 disease origin in induced Pluripotent Stem Cells (iPSCs), and RBM20 mutations in dilated cardiomyopathy. In the end, we will discuss the multifunctional role of RBM20 and manipulation of RBM20 as a potential therapeutic target for heart disease. View Full-Text
Keywords: alternative splicing; muscle-specific splicing factor; heart disease; RNA-binding motif 20; titin alternative splicing; muscle-specific splicing factor; heart disease; RNA-binding motif 20; titin

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Rexiati, M.; Sun, M.; Guo, W. Muscle-Specific Mis-Splicing and Heart Disease Exemplified by RBM20. Genes 2018, 9, 18.

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