Project Title

Project Title

Locus-specific imprinting on the mammalian X chromosome (supplement)

Description

Description

This is a supplement to project 5R01NS057607. 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.

Funding Country

Funding Country

United States

Current Award Period

Current Award Period

2011-2012

Strategic Plan Objective

Strategic Plan Objective

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.

Funder’s Project Link

Funder’s Project Link

NIH RePORTER Project Page 

Institute Location

Institute Location

Connecticut

Federal or Private

Federal or Private

Federal