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

Genomic imbalances at the 22q11 locus and predisposition to autism  

Dr. Gogos and his colleagues aim to address questions of small genomic rearrangements by studying mice with a deletion similar to one frequently seen in people with autism. Copy number variations (CNV), or the gain or loss of a chunk of DNA, can change cell physiology by altering the dosage of genes in that region. These CNVs can be found at many sites in the genome, but some locations, such as the human chromosomal region 22q11, appear to be rearranged in several cases of autism. Gogos and colleagues have generated a mouse with a small deletion in the chromosomal region equivalent to the human 22q11 region, and found that the deletion disrupts two cellular processes: the production of microRNAs — small RNAs that regulate gene expression — and the addition of palmitoyl groups to proteins. Either malfunction can lead to deficits in neuronal communication and function. Gogos and colleagues now plan to more thoroughly characterize these mice and determine whether microRNAs or protein palmitoylation may underlie the neurobiological abnormalities in autism. Project Status
ONGOING

2009

Funder Simons Foundation
Fiscal Year Funding $400,000.00
Project Number 95470
Principal Investigator Gogos, Joseph
Received ARRA Funding? No
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? Private
Institution Columbia University
State/Country New York
Web Link 1 Genomic imbalances at the 22q11 locus and predisposition to autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Genomic imbalances at the 22q11 locus and predisposition to autism | $400,000.00 | 2008 | Project number unavailable
Genomic imbalances at the 22q11 locus and predisposition to autism | $400,000.00 | 2010 | 95470