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

The mechanism and significance of Evf ncRNA regulation of the DLX genes  

Non-coding RNAs (ncRNAs) of the embryonic ventral forebrain (Evf) are the first developmentally regulated ncRNAs to be discovered that affect the transcriptional activity of a homeodomain protein. In this study, investigators hope to gain a better understanding of this novel mechanism of RNA-dependent transcriptional regulation. The importance of mechanistic studies of RNA function is clear from the number of regulatory RNAs thought to be involved different diseases. These include: the autism-related disorders Prader Willi Syndrome and diGeorge Syndrome, as well as Beckwith-Wiedeman syndrome, Spinocerebellar ataxia type 8, and campomelic dysplasia. The investigators hypothesize that Evfs regulate Dlx 1/2 genes, which are known to modulate the inhibitory GABAergic pathway in the brain. Alterations in Dlx 5 have been linked to Rett syndrome, affecting specific aspects of GABAergic interneuron differentiation or migration. Since altered GABAergic interneuron function has been linked to epilepsy, autism, schizophrenia, and mental retardation, studies on the normal development of GABAergic interneurons are critical to understanding the molecular bases for these diseases. Ultimately, researchers hope that a better understanding of the normal development of specific neuronal subpopulations in the brain will lead to the prevention and treatment of human neurological diseases. Project Status


Funder National Institutes of Health
Fiscal Year Funding $2,425.00
Current Award Period 2010-2011
Project Number 5P41RR011823-15
Principal Investigator Kohtz, Jhumku
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Subcategory Molecular Pathways
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.
Federal or Private? Federal
Institution University of Washington
State/Country Washington
Web Link 1 The mechanism and significance of Evf ncRNA regulation of the DLX genes (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A