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

Area of Science:

• Genomics
• Molecular Biology
• Oncology

Background:

• Retinoblastoma (RB) is a pediatric eye cancer with complex gene regulation.
• Understanding gene expression changes, including alternative splicing, is crucial for identifying RB progression mechanisms.

Purpose of the Study:

• To identify differential alternative splicing (DAS) events in retinoblastoma (RB) progression.
• To elucidate the role of these DAS events and differentially expressed genes (DEGs) in RB pathogenesis.

Main Methods:

• Meta-analysis of RNA sequencing data from 50 RB tumors and 17 normal retinal tissues.
• Functional enrichment, Weighted Gene Co-expression Network Analysis (WGCNA), and protein-protein interaction analyses were performed.

Main Results:

• Identified 6136 DAS events across 1262 genes and 1787 DEGs.
• DAS events were enriched in pathways like E2F targets, cell cycle, and MYC targets.
• WGCNA highlighted TFDP1, PCNA, and CCNB1 as potentially critical genes involved in RB progression via alternative splicing.

Conclusions:

• Significant DAS events play a critical role in retinoblastoma progression.
• Alternative splicing, particularly involving TFDP1, PCNA, and CCNB1, represents a potential therapeutic strategy for RB.