Factors that affect the regulation of splicing in Saccharomyces cerevisiae.

Every time a cell reads a gene, it must carefully edit the RNA message before it can be used—and this project investigates how that editing process is controlled and what happens when it goes wrong. The research focuses on splicing, the cellular mechanism that cuts out non-coding sections of RNA and stitches the meaningful parts together. Errors in splicing cause a range of human diseases, including a form of blindness called retinitis pigmentosa. Despite decades of work identifying the molecular machines that perform splicing, scientists still do not understand how these machines are regulated, how they maintain accuracy, or how defects in general splicing factors lead to specific diseases. This project uses yeast as a model to answer those questions. The work is fundamental science. It will map the molecular interactions that control splicing fidelity, the assembly of key splicing components, and the coupling of splicing to other cellular processes like transcription. If successful, it will reveal how a single faulty splicing factor can cause a specific disease, and identify potential targets for future therapies. Past fundamental splicing research has already led to the first approved drugs that correct splicing errors.