National Institute of General Medical Sciences 2R35GM118131-11

Biophysical investigations of RNA complexes essential for gene expression

The award supports research on RNA-protein complexes that regulate gene expression, focusing on protein-RNA interactions and mutations affecting RNA splicing, with implications for neurodegenerative diseases.

Description

This research project will investigate the structure and function of RNA-protein (RNP) complexes that regulate gene expression in eukaryotic cells. The research will elucidate how mutations in these systems contribute to disease. A central hypothesis is that protein binding influences RNA folding outcomes important for gene expression. The project focuses on pUG repeat regions of RNA, which are present in many human RNAs and are involved in gene silencing and RNA interference amplification in C. elegans. The study aims to understand how TDP-43 and FUBP3 proteins interact with these RNA regions, and how mutations in the U6 snRNP affect RNA splicing, with implications for neurodegenerative diseases such as ALS, FTD, and Alzheimer’s.

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