Johnson et al., "Transcriptional repression by the methyl-CpG-binding protein
MeCP2 involves a histone deacetylase complex," Nature, vol.
Eisinger et al., "Methyl-CpG-binding protein MBD1 regulates neuronal lineage commitment through maintaining adult neural stem cell identity," The Journal of Neuroscience, vol.
Zoghbi, "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2," Nature Genetics, vol.
Okaty et al., "Cell-type-specific repression by methyl-CpG-binding protein
2 is biased toward long genes," The Journal of Neuroscience, vol.
Abbreviations 4-HNE: 4-Hydroxy-2-nonenal 4-HNE PAs: 4-Hydroxy-2-nonenal protein adducts AA: Arachidonic acid DHA: Docosahexaenoic acid [F.sub.2]-IsoPs: [F.sub.2]-isoprostanes [F.sub.4]-NeuroPs: [F.sub.4]-neuroprostanes GSH: Reduced glutathione GSSG: Oxidized glutathione IsoPs: Isoprostanes MECP2: Methyl-CpG-binding protein
2--human gene MeCP2: Methyl-CpG-binding protein
2--human protein NPBI: Nonprotein bound iron OS: Oxidative stress PUFAs: Polyunsaturated fatty acids ROS: Reactive Oxygen Species RTT: Rett syndrome TEM: Transmission electron microscopy.
Studies have implicated de novo mutations of the X-linked methyl-CpG-binding protein 2 (MECP2) gene (OMIM*300005) in the majority of the RTT cases, while mutations in cyclin-dependent kinase-like 5 (CDKL5) and forkhead box G1 (FQXG1) have been more rarely reported [3-5].
Barrish et al., "Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome," Neurology, vol.
Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1.
Methyl-CpG-binding proteins. Targeting specific gene repression.
Rett syndrome (RTT), for a long time included among the Autism Spectrum Disorders (ASDs), is a nosologically distinct, genetically determined neurological entity associated in up to 95% of cases to de novo loss-of-function mutations in the X-chromosome-linked gene encoding the methyl-CpG-binding protein
2 (MeCP2) .
The expression of DNA methyltransferases and methyl-CpG-binding proteins
is not associated with the methylation status of p14(ARF), p16(INK4a) and RASSF1A in human lung cancer cell lines.
MeCP2 belongs to a family of proteins called methyl-CpG-binding proteins
that share a methyl-CpG-binding domain comprising about 70 amino acid residues.