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

Neurobiological mechanism of 15q11-13 duplication autism spectrum disorder  

This project seeks to learn how certain autism-related genes may affect proteins in the brain and the function of brain circuits that underlie the behavioral disturbances observed in autism. The ubiquitin E3 ligase, Ube3a, has been implicated in autism spectrum disorder (ASD) caused by duplication in the maternal 15q 11-13 gene region (15qASD). Cells from 15qASD patients have extra copies of the UBE3A gene. The majority of children who inherit 15q11-13 duplications from their mothers develop ASD; the more copies inherited, the more severe the impairment. This project tests the hypothesis that excess Ube3a protein (created by extra copies of 15q11-13) contributes to ASD by increasing the ubiquitination and degradation of key brain proteins needed to preserve normal neuronal circuit function. Mouse models will be used to elucidate the impact of the number of copies of 15q11-13 on neural circuit function. This understanding may lead to the development of new drugs and behavioral interventions. Project Status


Funder National Institutes of Health
Fiscal Year Funding $303,625.00
Project Number 1R21NS070295-01
Principal Investigator Anderson, Matthew
Received ARRA Funding? Yes
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Interventions)
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 Neurobiological mechanism of 15q11-13 duplication autism spectrum disorder (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Neurobiological mechanism of 15q11-13 duplication autism spectrum disorder | $304,500.00 | 2010 | 5R21NS070295-02