Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Identification of UBE3A substrates using proteomic profiling in Drosophila  

The Reiter laboratory utilizes the genetic tools available in Drosophila melanogaster (fruit flies) to study genes related to autism, specifically the protein targets of the ubiquitin ligase E6-AP (gene name UBE3A). Mutations in the UBE3A gene cause a mental retardation disorder known as Angelman syndrome. Recently it has been shown that duplication of the genomic region containing this gene could be the underlying cause in as many as 3% of all cases of inherited autism. This project will use fruit flies to identify genes regulated at the protein level by E6-AP. Several techniques will be used to generate artificially high levels of Drosophila UBE3A (Dube3a) protein. The investigators will then use protein sequencing (proteomics) to identify those proteins affected by changes in the levels of Dube3a protein. Upon validation, proteins that appear to change their expression in this analysis will be considered as new autism genes. In a separate collaboration, these potential autism genes will then be analyzed as susceptibility factors in families where autism appears to be inherited. Project Status
ONGOING

2009

Funder Autism Speaks
Fiscal Year Funding $0.00
Project Number 2026
Principal Investigator Reiter, Lawrence
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Yellow dot: Objective has some degree of funding, but less than the recommended amount. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.
Federal or Private? Private
Institution University of Tennessee Health Science Center
State/Country Tennessee
Web Link 1 Identification of UBE3A substrates using proteomic profiling in Drosophila (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Identification of UBE3A substrates using proteomic profiling in Drosophila | $60,000.00 | 2008 | 2026