Analysing Differential Alternative Splicing Events and Their Impact on Retinoblastoma Progression Using RNA-seq Metadata.

ABSTRACT:

Objective

Identify differential alternative splicing (DAS) events and their role in retinoblastoma (RB) progression.

Methods

We conducted a meta-analysis of RNA sequencing data from 50 RB tumours and 17 normal retinal tissues to identify DAS events and differential expressed genes (DEGs) in RB progression. We performed functional and pathway enrichment analyses, Weighted Gene Co-expression Network Analysis (WGCNA), and protein-protein interaction analysis.

Results

We identified 6136 DAS events involving 1262 genes and 1787 DEGs. Exon skipping and mutually exclusive exons were the most prevalent DAS events. Functional analyses of DAS events containing genes highlighted involvement in E2F targets, cell cycle, G2M checkpoint, MYC targets and fatty acid metabolism pathway

SUBMITTER: Assane Rachidou MHA 

PROVIDER: S-EPMC12290216 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature