RNA-Seq Analysis to Study the Effect of Alternative Splicing on Functioning of Mbnl2

Description

Page: 31-35

Preeti Mate, Manjushri Kalpande, Shraddha Ranpise, and Pratiksha Bhoi (Department of Bioinformatics, Dr. D. Y. Patil Arts, Commerce and Science College, Sant Tukaram Nagar, Pimpri, Pune, Maharashtra)

High-throughput RNA sequencing (RNA-seq) enables precise transcriptomic profiling, facilitating the analysis of gene expression and alternative splicing across diverse biological contexts. This study investigates the regulatory function of Muscleblind-like 2 (Mbnl2) in alternative splicing during postnatal brain development, emphasizing its role in Myotonic Dystrophy (DM) pathology. Utilizing advanced computational tools such as StringTie and Ballgown, RNA-seq reads were aligned to construct transcriptomes, quantify isoforms, and analyze differential gene expression under Mbnl2-deficient conditions. A custom bash script streamlined data processing, while IGV visualization illuminated splicing junction anomalies within the Mbnl2 gene. Findings revealed intricate transcriptional dynamics and splicing irregularities linked to Mbnl2 loss. RNA-seq’s ability to detect multiple transcript variants for a single gene underscores its utility in elucidating complex regulatory mechanisms of alternative splicing. These insights contribute to understanding Mbnl2’s pivotal role in developmental splicing programs and its disruption in DM-associated neuropathology.