Ontology highlight
ABSTRACT:
SUBMITTER: Luikenhuis S
PROVIDER: S-EPMC395918 | biostudies-literature | 2004 Apr
REPOSITORIES: biostudies-literature
Luikenhuis Sandra S Giacometti Emanuela E Beard Caroline F CF Jaenisch Rudolf R
Proceedings of the National Academy of Sciences of the United States of America 20040406 16
Mutations in MECP2 are the cause of Rett syndrome (RTT) in humans, a neurodevelopmental disorder that affects mainly girls. MeCP2 is a protein that binds CpG dinucleotides and is thought to act as a global transcriptional repressor. It is highly expressed in neurons, but not in glia, of the postnatal brain. The timing of MeCP2 activation correlates with the maturation of the central nervous system, and recent reports suggest that MeCP2 may be involved in the formation of synaptic contacts and ma ...[more]