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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

Locus-specific imprinting on the mammalian X chromosome

Principal Investigator

Principal Investigator

O'Neill, Michael

Description

Description

A special group of genes, known as imprinted genes, on the X chromosome may be an important contributing factor to autism spectrum disorder (ASD). Genomic imprinting is a form of epigenetic gene regulation that leads to one of the two parental copies of a gene being inherited in a transcriptionally silent state. Imprinted genes have only recently been discovered on the X chromosome, and it is important to gain an understanding of the role these genes play in brain development and how they are regulated. The primary goal of this project is to fully characterize the epigenetic regulatory factors that influence transcription of these genes on the X chromosome. Experiments will assess the effect of DNA methylation and activation on gene expression, as well as other regulatory factors. Finally, knockout mouse models targeting genes encoding for regulatory elements will be developed.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

327994

Current Award Period

Current Award Period

2008-2013

Strategic Plan Question

Strategic Plan Question

Question 3: What Caused This To Happen And Can This Be Prevented?

Strategic Plan Objective

Strategic Plan Objective

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.

Project Link

Project Link

Locus-specific imprinting on the mammalian X chromosome (External web link)

Institution

Institution

University of Connecticut

State/Country

State/Country

Connecticut

Project Number

Project Number

5R01NS057607-04

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Locus-specific imprinting on the mammalian X chromosome | 327994 | 2012 | 5R01NS057607-05
Locus-specific imprinting on the mammalian X chromosome (supplement) | 16875 | 2011 | 3R01NS057607-04S1

 
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