Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients.

ABSTRACT:

Background

More than 85% of Rett syndrome (RTT) patients have heterozygous mutations in the X-linked MECP2 gene which encodes methyl-CpG-binding protein 2, a transcriptional repressor that binds methylated CpG sites. Because MECP2 is subject to X chromosome inactivation (XCI), girls with RTT express either the wild type or mutant MECP2 in each of their cells. To test the hypothesis that MECP2 mutations result in genome-wide transcriptional deregulation and identify its target genes in a system that circumvents the functional mosaicism resulting from XCI, we performed gene expression profiling of pure populations of untransformed T-lymphocytes that express either a mutant or a wild-type allele.

Methods

Single T lymphocytes from a patient with a c.473C>T (p.T158M) mutation and

SUBMITTER: Delgado IJ 

PROVIDER: S-EPMC1569822 | biostudies-literature | 2006 Jul

REPOSITORIES: biostudies-literature