The Emerging Role of the RBM20 and PTBP1 Ribonucleoproteins in Heart Development and Cardiovascular Diseases
| Autor: | Chiara Stefani, Maria Grazia Romanelli, Pamela Lorenzi, Donato Zipeto, Marilisa Galasso, Elisabetta Trabetti, Stefania Fochi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
lcsh:QH426-470 RNA-binding protein Computational biology Review PTBP1 Biology Heterogeneous-Nuclear Ribonucleoproteins 03 medical and health sciences Exon alternative splicing 0302 clinical medicine Genetics ribonucleoproteins Humans titin Myocytes Cardiac Genetics (clinical) Ribonucleoprotein DCM RBM20 Heart development Alternative splicing RNA-Binding Proteins Heart heart development Exons lcsh:Genetics 030104 developmental biology Cardiovascular Diseases 030220 oncology & carcinogenesis RNA splicing exon exclusion Mutation biology.protein Titin RNA binding proteins RRM motif Polypyrimidine Tract-Binding Protein |
| Zdroj: | Genes, Vol 11, Iss 402, p 402 (2020) Genes |
| ISSN: | 2073-4425 |
| Popis: | Alternative splicing is a regulatory mechanism essential for cell differentiation and tissue organization. More than 90% of human genes are regulated by alternative splicing events, which participate in cell fate determination. The general mechanisms of splicing events are well known, whereas only recently have deep-sequencing, high throughput analyses and animal models provided novel information on the network of functionally coordinated, tissue-specific, alternatively spliced exons. Heart development and cardiac tissue differentiation require thoroughly regulated splicing events. The ribonucleoprotein RBM20 is a key regulator of the alternative splicing events required for functional and structural heart properties, such as the expression of TTN isoforms. Recently, the polypyrimidine tract-binding protein PTBP1 has been demonstrated to participate with RBM20 in regulating splicing events. In this review, we summarize the updated knowledge relative to RBM20 and PTBP1 structure and molecular function; their role in alternative splicing mechanisms involved in the heart development and function; RBM20 mutations associated with idiopathic dilated cardiovascular disease (DCM); and the consequences of RBM20-altered expression or dysfunction. Furthermore, we discuss the possible application of targeting RBM20 in new approaches in heart therapies. |
| Databáze: | OpenAIRE |
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