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

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journal contribution
posted on 2018-04-09, 14:22 authored by Rexiati Maimaiti, Mingming Sun, Wei Guo

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.


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