Por favor, use este identificador para citar o enlazar este Item:http://hdl.handle.net/20.500.12105/16778
Título
Functional Impact and Regulation of Alternative Splicing in Mouse Heart Development and Disease.
Autor(es)
Marti-Gomez, Carlos CNIC | Larrasa-Alonso, Javier CNIC | Lopez-Olaneta, Marina CNIC | Villalba-Orero, Maria CNIC | Garcia-Pavia, Pablo CNIC | Sanchez-Cabo, Fatima CNIC | Lara-Pezzi, Enrique CNIC
Fecha de publicación
2022-12
Cita
J Cardiovasc Transl Res . 2022 Dec;15(6):1239-1255
Idioma
Inglés
Tipo de documento
journal article
Resumen
Alternative splicing (AS) plays a major role in the generation of transcript diversity. In the heart, roles have been described for some AS variants, but the global impact and regulation of AS patterns are poorly understood. Here, we studied the AS profiles in heart disease, their relationship with heart development, and the regulatory mechanisms controlling AS dynamics in the mouse heart. We found that AS profiles characterized the different groups and that AS and gene expression changes affected independent genes and biological functions. Moreover, AS changes, specifically in heart disease, were associated with potential protein-protein interaction changes. While developmental transitions were mainly driven by the upregulation of MBNL1, AS changes in disease were driven by a complex regulatory network, where PTBP1 played a central role. Indeed, PTBP1 over-expression was sufficient to induce cardiac hypertrophy and diastolic dysfunction, potentially by perturbing AS patterns.
MESH
Alternative Splicing | Heart Diseases | Animals | Mice | Polypyrimidine Tract-Binding Protein | Heart
Versión en línea
DOI
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