Year: 2011
Type: dissertation
Abstract: Methyl-CpG-binding protein 2 (MeCP2) is a founding member of the methyl-CpG-binding protein family and is required for normal development. Mutations in MeCP2 are the primary implicated cause of the X-linked neurodevelopmental disorder known as Rett Syndrome. Currently, the mechanism by which MeCP2 selects and represses target genes is not well understood. We have sought to understand the function of MeCP2 by the biochemical analysis of CpG-methylation- specific transcriptional repression by purified recombinant human MeCP2. This work includes the development of an experimental system for the determination of the effect of the location and density of methyl-CpG dinucleotides on transcriptional repression. It has been found, for instance, that methylation in the core promoter region is sufficient but not necessary for transcriptional repression by MeCP2. These studies will enable the detailed analysis of the mechanism by which MeCP2 represses gene transcription
Author: James Stephen Gucwa
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2765596983