The alternative splicing (AS) mechanism is considered the major driving force of transcriptome and proteome diversity. Itrelies on a delicate and finely tuned interplay among a great number of molecular elements. The crucial action of AS in the regulation of diverse biological processes is not limited to physiological states, but is mirrored in the growing list of human diseases associated with known or suspected splicing defects, including neurodegenerative and oncologicaldiseases. In these pathologies, the AS regulation of PARK2gene (also called parkin RBR E3 ubiquitin protein ligase), one of the largest in our genome, seems to play a fundamental role. Here, we will briefly review some major data concerning the genetic organization, the transcription regulation, the structure of the protein and the relative molecular functions of PARK2. Then we will focuson the current knowledge about PARK2 alternative spliced isoforms and their implication in human diseases.

Alternative Splicing: Not only Parkinsonism

D'AGATA, VELIA MARIA;
2016-01-01

Abstract

The alternative splicing (AS) mechanism is considered the major driving force of transcriptome and proteome diversity. Itrelies on a delicate and finely tuned interplay among a great number of molecular elements. The crucial action of AS in the regulation of diverse biological processes is not limited to physiological states, but is mirrored in the growing list of human diseases associated with known or suspected splicing defects, including neurodegenerative and oncologicaldiseases. In these pathologies, the AS regulation of PARK2gene (also called parkin RBR E3 ubiquitin protein ligase), one of the largest in our genome, seems to play a fundamental role. Here, we will briefly review some major data concerning the genetic organization, the transcription regulation, the structure of the protein and the relative molecular functions of PARK2. Then we will focuson the current knowledge about PARK2 alternative spliced isoforms and their implication in human diseases.
PARK2, parkin, alternative splicing, Parkinson’s disease, cancer.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/19764
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