Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2067/52757
Titolo: Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome
Autori: Gioiosa, Silvia
Gasparini, Silvia
Presutti, Carlo
Rinaldi, Arianna
Castrignanò, Tiziana 
Mannironi, Cecilia
Rivista: SCIENTIFIC REPORTS 
Data pubblicazione: 2025
Abstract: 
Mutations of the MECP2 gene lead to Rett syndrome (RTT), a rare developmental disease causing severe intellectual and physical disability. How the loss or defective function of MeCP2 mediates RTT is still poorly understood. MeCP2 is a global gene expression regulator, acting at transcriptional and post-transcriptional levels. Little attention has been given so far to the contribution of alternative splicing (AS) dysregulation to RTT pathophysiology. To perform a comparative analysis of publicly available RNA sequencing (RNA-seq) studies and generate novel data resources for AS, we explored 100 human datasets and 130 mouse datasets from Mecp2-mutant models, processing data for gene expression and alternative splicing. Our comparative analysis across studies indicates common species-specific differentially expressed genes (DEGs) and differentially alternatively spliced (DAS) genes. Human and mouse dysregulated genes are involved in two main functional categories: cell-extracellular matrix adhesion regulation and synaptic functions, the first category more significantly enriched in human datasets. Our extensive bioinformatics study indicates, for the first time, a significant dysregulation of AS in human RTT datasets, suggesting the crucial contribution of altered RNA processing to the pathophysiology of RTT.
URI: http://hdl.handle.net/2067/52757
ISSN: 2045-2322
DOI: 10.1038/s41598-025-86114-8
Diritti: CC0 1.0 Universal
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