Next Article in Journal
High Density Single Nucleotide Polymorphism (SNP) Mapping and Quantitative Trait Loci (QTL) Analysis in a Biparental Spring Triticale Population Localized Major and Minor Effect Fusarium Head Blight Resistance and Associated Traits QTL
Next Article in Special Issue
Alternative Splicing of Alpha- and Beta-Synuclein Genes Plays Differential Roles in Synucleinopathies
Previous Article in Journal
Linking DNA Damage and Age-Related Promoter DNA Hyper-Methylation in the Intestine
Previous Article in Special Issue
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease
Article Menu
Issue 1 (January) cover image

Export Article

Open AccessReview
Genes 2018, 9(1), 18; https://doi.org/10.3390/genes9010018

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

1
Animal Science, University of Wyoming, Laramie, WY 82071, USA
2
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]   |  

Abstract

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
Figures

Figure 1

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).
SciFeed

Share & Cite This Article

MDPI and ACS Style

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

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Genes EISSN 2073-4425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top