| Abstract | Diabetes mellitus is a heterogeneous group of disorders characterized by persistent hyperglycemia, caused by a combination of genetic and environmental risk factors. Diabetes cases are on the rise and with no cure as of yet, making it a significant global health challenge. Studies suggest that a mutation or defect in a gene that regulates ꞵ-cell development or function can cause monogenic diabetes – one such gene is a key transcription factor, FOXA2. Diabetic patients with a FOXA2 deficiency displayed aberrant development of pancreatic ꞵ-cells. A previous study showed that deficiency in FOXA2 can lead to dysregulation of the expression of many genes involved in pancreatic development. However, the effects of FOXA2 deficiency on post-transcriptional regulation such as alternative splicing have not been studied. We hypothesized that splicing alterations caused by FOXA2 deficiency can account for part of the diabetic phenotype. This project revealed more insight into the mechanisms that contribute to the diabetic phenotype in these patients.
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