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

Characterization of autism susceptibility genes on chromosome 15q11-13  

This is an individual National Research Service Award for post-doctoral research training, which provides support for promising Fellowship Applicants with the potential to become productive, independent investigators in scientific health-related research fields. Maternal (but not paternal) duplication of chromosome 15q11-13 is the most common copy number variation (CNV) causing autism spectrum disorder (ASD), present in 1-3% of all ASD cases. This CNV results in a child having too many copies of several genes. Of 40 genes in the chromosomal region, only UBE3A is expressed exclusively from the maternal chromosome in the brain. Angelman syndrome (AS), a disorder with opposite symptoms from ASD (e.g., hyper-social behavior vs. hypo-social behavior, respectively), is caused by a deletion of UBE3A, an E3 ubiquitin ligase. Given the gene's role in causing AS and the recent evidence implicating ubiquitin pathways in ASD pathophysiology, Ube3a may mediate ASD risk in 15q11-13 duplication. To test the potential role of UBE3A in autism, extra copies of the UBE3A gene will be inserted into mice to create a novel mouse model. First, behaviors directly relevant to ASD (social interaction, infant vocalization) will be characterized in the mice. Then molecular level investigations will ensue to determine how the UBE3A genes might lead to abnormal behaviors related to autism. Project Status


Funder National Institutes of Health
Fiscal Year Funding $47,606.00
Current Award Period 2010-2013
Project Number 1F32MH087085-01A1
Principal Investigator Smith, Stephen
Received ARRA Funding? No
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Treatments)
Subcategory Model Systems/Therapeutic Targets
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 4SB. Standardize and validate at least 20 model systems (e.g., cellular and/or animal) that replicate features of ASD and will allow identification of specific molecular targets or neural circuits amenable to existing or new interventions by 2012. IACC Recommended Budget: $75,000,000 over 5 years.
Federal or Private? Federal
Institution Beth Israel Deaconess Medical Center
State/Country Massachusetts
Web Link 1 Characterization of autism susceptibility genes on chromosome 15q11-13 (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A