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

Human neurobehavioral phenotypes associates with the extended PWS/AS domain  

Genetic variation on chromosome 15 (e.g., 15q11-q13) is common and can cause numerous brain disorders, including Prader-Willi syndrome, Angelman syndrome, mental retardation, autism, epilepsy, schizophrenia, and bipolar disorder. Researchers in this study will better define genotype/phenotype correlations stemming from mutations and gene alterations in this region of chromosome 15. They will utilize gene expression analysis and epigenetic studies of human brain tissue comparing duplications of the 15q11-q13 region with controls. Duplications of this region on the maternal chromosome specifically cause autism, while duplications on the paternal chromosome do not. Therefore, understanding the molecular basis for this difference should shed considerable light on the causes of autism that are not caused by changes in DNA sequence. Project Status


Funder National Institutes of Health
Fiscal Year Funding $634,739.00
Current Award Period 2010-2015
Project Number 2R01HD037283-11A2
Principal Investigator Beaudet, Arthur
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Causes)
Subcategory Epigenetics
Strategic Plan Objective New! Green dot: Objective has greater than or equal to the recommended funding. 3SJ. Support at least three studies that focus on the role of epigenetics in the etiology of ASD, including studies that include assays to measure DNA methylations and histone modifications and those exploring how exposures may act on maternal or paternal genomes via epigenetic mechanisms to alter gene expression, by 2012. IACC Recommended Budget: $20,000,000 over 5 years.
Federal or Private? Federal
Institution Baylor College of Medicine
State/Country Texas
Web Link 1 Human neurobehavioral phenotypes associates with the extended PWS/AS domain (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A