Year: 2018
Type: dissertation
Abstract: Mutations in Shank family genes are highly implicated in idiopathic autism spectrum disorders (ASD) and therefore have been repeatedly studied using rodent models, however, study results have been varied possibly due to redundancy from multiple Shank family genes. Drosophila models offer a clearer approach as they possess only one Shank gene, allowing in-depth study of Shank and its interactions with other factors. Using the Drosophila neuromuscular junction as a model of glutamatergic brain synapses, a genetic screen was performed to identify novel interactors of Drosophila Shank and characterize new molecular pathways to understand how Shank functions at synapses. Results from this screen indicated that Ca-1d may share a relationship with Shank. Further characterization in a Shank overexpression background confirmed an interaction that is not apparent in a Shank loss-of-function background. Studying genes linked to ASDs in a simple model may reveal unappreciated signalling pathways providing new directions in autism research.
Source: TSpace (University of Toronto)
Author: Ashley Hogg
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2945907241