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

Investigation of DUF1220 domains in human brain function and disease  

Human genome sequences encoding a novel protein domain, DUF1220, are highly amplified in the human lineage (>200 copies vs. 1 in mouse/rat) and may be important in human-specific cognitive function. The majority of DUF1220 domains are in chromosomal location 1q21.1, and DNA copy number variants (CNVs) in the 1q21.1 region have been implicated in numerous diseases associated with cognitive dysfunction, including autism, mental retardation, schizophrenia, microcephaly, and macrocephly. In order to more precisely identify the CNV boundaries and causal disease genes in these patients, a finished sequence map of the region will be generated. The role of the DUF1220 domain copy number in autism will be investigated by analyzing DNA sequences of individuals with autism and by performing behavioral tests to assess the effect of the loss of the DUF1220 domain on learning and memory in mice that lack the DUFF1220 gene. These studies should lead to a better understanding of which genes in the 1q21.1 region underlie the associated diseases of cognition. Project Status
NEW

2009

Funder National Institutes of Health
Fiscal Year Funding $367,008.00
Project Number 1R01MH081203-01A2
Principal Investigator Sikela, James
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Risk Factors)
Strategic Plan Objective 3O. Not specific to Question 3 objectives
Federal or Private? Federal
Institution University of Colorado Denver
State/Country Colorado
Web Link 1 Investigation of DUF1220 domains in human brain function and disease (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Investigation of DUF1220 domains in human brain function and disease | $352,794.00 | 2010 | 5R01MH081203-02
Investigation of DUF1220 domains in human brain function and disease (supplement) | $79,369.00 | 2010 | 3R01MH081203-02S1