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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

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

Principal Investigator

Principal Investigator

Kohtz, Jhumku

Description

Description

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.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

2425

Current Award Period

Current Award Period

2010-2011

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

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.

Project Link

Project Link

The mechanism and significance of Evf ncRNA regulation of the DLX genes (External web link)

Institution

Institution

University of Washington

State/Country

State/Country

Washington

Project Number

Project Number

5P41RR011823-15

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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