title: Clonal Rett Syndrome cell lines to test compounds for activation of wild-type MeCP2 expression.
abstract: Rett Syndrome is an X-linked progressive neurological disorder caused by inactivation of one allele of the MECP2 gene. There are no curative treatments, and activation of wild-type MECP2 expression is one strategy for stabilizing or reversing the disease. We isolated fibroblast clones that express exclusively either the wild-type or a 32-bp-deletion mutant form of MECP2. We developed a sensitive assay for measuring wild-type MECP2 mRNA levels and tested small molecule epigenetic activators for their ability to activate gene expression. Although our pilot screen did not identify activators of MECP2 expression, it established the value of using clonal cells and defined challenges that must be overcome.
authors.affiliation: Department of Pharmacology, UT Southwestern Medical Center at Dallas, Dallas, 6001 Forest Park Road, TX 75390, USA.
authors.forename: Dongbo
authors.initials: D
authors.lastname: Yu
authors.forename: Fuminori
authors.initials: F
authors.lastname: Sakurai
authors.forename: David R
authors.initials: DR
authors.lastname: Corey
mesh_terms: D002999:Clone Cells / Q000187:drug effects; D044127:Epigenesis, Genetic / Q000187:drug effects / Q000235:genetics; D005347:Fibroblasts / Q000187:drug effects; D020869:Gene Expression Profiling; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics* / Q000378:metabolism; D015394:Molecular Structure; D009154:Mutation; D009930:Organic Chemicals / Q000737:chemistry / Q000494:pharmacology*; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000187:drug effects / Q000235:genetics; D015518:Rett Syndrome / Q000235:genetics / Q000473:pathology*; D013237:Stereoisomerism
chemical_list: D051783:Methyl-CpG-Binding Protein 2; D009930:Organic Chemicals; D012333:RNA, Messenger