Deciphering the function and regulation of AUTS2
University of California, San Francisco
Weatherstone Predoctoral Fellowship
Autism is a neurodevelopmental disorder with complex genetic and environmental causes. Many gene mutations have been associated with autism; however, they explain only a small part of the genetic cause for this disorder. 98% of our genome does not encode for protein and is thus termed noncoding. In this noncoding space are gene regulatory sequences that tell genes when, where and at what amount to turn on or off. Mutations in these gene regulatory elements could thus be an important cause of autism. Despite the potential importance of these noncoding gene regulatory regions in autism susceptibility, very few studies have been performed trying to implicate them in this disorder. This pilot study focuses on a strong autism candidate gene, the autism susceptibility candidate 2 (AUTS2) gene. Mutations in its regulatory elements have been associated with autism and its function is not well known. Using both zebrafish and mice as the model organisms, the project aims to identify noncoding gene regulatory sequences of AUTS2. The fellow will then look to see if any individuals with autism have mutations in the regulatory regions identified. They will also reduce the expression of this gene in zebrafish and look for abnormalities to further clarify its function. This study promises to further our understanding of how differences in the noncoding region of the genome can lead to autism. It also aims to advance our understanding of a gene of unknown function that has been implicated in autism.