MECP2 (methyl CpG binding protein 2) is a gene that encodes the protein MECP2. MECP2 appears to be essential for the normal function of nerve cells. The...

condition is variable. Rett syndrome is due to a genetic mutation in the MECP2 gene, on the X chromosome. It almost always occurs as a new mutation, with...

MECP2 duplication syndrome (M2DS) is a rare disease that is characterized by severe intellectual disability and impaired motor function. It is an X-linked...

1999, a postdoctoral researcher in Zoghbi's lab identified MECP2 as the causative gene. The MECP2 protein binds methylated cytosine (5-methylcytosine) in...

The genetic defect of the transcriptional regulator MECP2 is responsible for Rett syndrome. A MECP2 deficiency has been associated to catecholaminergic...

2005). "Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3". Human Molecular...

for unmethylated DNA. In vitro foot-printing with the chromosomal protein MeCP2 showed that the MBD could protect a 12 nucleotide region surrounding a methyl...

prevalence of approximately 1 in 8,500. It is caused by mutations in the MECP2 gene located on the X chromosome and is inherited in an X-linked dominant...

"Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome". Annals of Neurology. 66 (6): 771–782. doi:10.1002/ana...

suppression of gene expression. Stress-dependent phosphorylation of MeCP2 causes MeCP2 to dissociate from the promoter region of a gene called arginine vasopressin...

Associated genes Sex Study1 Origin Note X chromosome Xq28 Speculative MAGEA11 MECP2 IRAK1 male only Hamer et al. 1993 Sanders et al. 2015 genetic Chromosome...

epigenetic markers. Methyl-CpG-binding protein 2 (MeCP2) is a protein that binds to methylated DNA. MeCP2 has been found to associate most strongly with...

gene. However, mutations have also been found in FMR1, FLNA, UPF3B, CASK, MECP2 and ATRX genes. Mutations on these different genes lead to the different...

CUC - 3' Protein: Asn Ser Leu Leu Thr Ala Leu Missense mutations in the MeCP2 protein can cause Rett syndrome, otherwise known as the RTT phenotype. This...

leads to the phosphorylation of MeCP2, which results in a decrease in the binding of MeCP2 to BDNF promoter IV. Because MeCP2 can no longer bind to the BDNF...

presentation. These include: Coffin–Lowry syndrome DDX3X syndrome MASA syndrome MECP2 duplication syndrome Mental retardation and microcephaly with pontine and...

through interaction with methyl binding domain (MBD) proteins, such as MeCP2, MBD1 and MBD2. These MBD proteins bind most strongly to highly methylated...

Ketamine, as well as the epigenetic regulation of synaptic transmission by MeCP2. Monteggia pursued her undergraduate education at the University of Illinois...

to hmC appears to disrupt the binding of 5mC-binding proteins including MECP2 and MBD (Methyl-CpG-binding domain) proteins, facilitating nucleosome remodeling...

research has focused on CpG islands and their associated binding-factor MeCP2. He led the team which first identified CpG islands—originally named "HpaII...

syndrome Down syndrome Fetal valproate spectrum disorder Fragile X syndrome MECP2 duplication syndrome Neurofibromatosis type I Noonan syndrome Multiple hamartoma...

UBE3A and GABRB3 is observed in MeCP2 deficient mice and autistic people. This effect seems to happen without MeCP2 directly binding to the promoters...

DHDDS, BEST1, LRAT, SPARA7, CRX dominant or recessive 1:4,000 Rett syndrome MECP2 dominant, often de novo 1:8,500 females Roberts syndrome ESCO2 recessive...

androgen receptor. Mutations involving the production of extra copies of the MECP2 and IRAK1 genes within Xq28 have been associated with phenotypes including...

NPCs, and by MeCP2 and methylation of the L1 5' UTR. Human cell lines modeling the neurological disorder Rett syndrome, which carry MeCP2 mutations, exhibit...

; Wassink-Ruiter, Jolien S. Klein (August 2016). "Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual...

Zoghbi (Dickson Prize lecture, Thursday, October 3, 2013: "Rett Syndrome and MECP2 Disorders: From the Clinic to Genes and Neurobiology.") 2014 Jeffrey I....

Associated genes Sex Study1 Origin Note X chromosome Xq28 Speculative MAGEA11 MECP2 IRAK1 male only Hamer et al. 1993 Sanders et al. 2015 genetic Chromosome...

Fasolino M, Zhou Z (May 2017). "The Crucial Role of DNA Methylation and MeCP2 in Neuronal Function". Genes (Basel). 8 (5): 141. doi:10.3390/genes8050141...

Nature Microbiology showed that T. gondii can be engineered to deliver the MECP2 protein, a therapeutic target of Rett syndrome, to the brain of infected...