Systems Genetics Approach toward Understanding Regulation of MECP2 Expression

Terry Magnuson, PhD | University of North Carolina at Chapel Hill

$200,000 AWARDED

Mutations in the MECP2 gene, located on the X chromosome, are responsible for Rett Syndrome. A possible avenue to treat Rett patients is by directing its expression from the normal copy or by modulating the expression from the mutant copy.  The scientists propose to identify the regulatory elements that control MECP2 expression with a focus on those elements that are functionally variable within natural populations and, thus, amenable to both genetic analysis and to putative manipulation. The proposed work will be conducted in two novel mouse resources specifically designed to maximize the number of genes with regulatory variants and the ability to map the causal regulatory elements.

Current Projects