10.25376/hra.7796606.v1
Maimaiti Rexiati
Maimaiti
Rexiati
Mingming Sun
Mingming
Sun
Wei Guo
Wei
Guo
Muscle-Specific Mis-Splicing and Heart Disease Exemplified by RBM20
Health Research Alliance
2019
alternative splicing
muscle-specific splicing factor
heart disease
RNA-binding motif 20
titin
Cardiology (incl. Cardiovascular Diseases)
Cell Physiology
Diseases
Medical Biochemistry: Nucleic Acids
Molecular Targets
2019-03-03 18:12:05
Journal contribution
https://hra.figshare.com/articles/journal_contribution/Muscle-Specific_Mis-Splicing_and_Heart_Disease_Exemplified_by_RBM20/7796606
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<p>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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