Sanjana Kotha L&S Biological Sciences
Functional Characterization of Transcription Factor Mutations in ASD
While there has been a great amount of progress in understanding the genetic basis of autism spectrum disorder (ASD), there remain patients who carry novel mutations and do not have definitive diagnoses. Common patient mutations in ASD are known to overlap many genes coding for transcription factors (TFs). TFs regulate gene expression, and consist of DNA-binding domains and activation domains. It is currently unknown where in TFs these mutations are enriched. TFs have only recently been tiled and screened for activation domain activity. Before this, while variants associated with ASD were known, it was not possible to identify whether these variants lie in activation domains. In my project, I will use this new list of activation domains to explore whether patient mutations are enriched in activation domains or DNA-binding domains. This will allow for the functional characterization of variants with currently unknown significance in patients with ASD. Exploring the activation domains on ASD-associated TFs will contribute towards developing computational models for precision medicine in ASD patient diagnoses.