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...

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

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

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...

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

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...

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...

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

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

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

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...

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

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...

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

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

United States Myanmar Eye Care Project, a not-for-profit organisation MECP2, a gene MECP2 duplication syndrome, a rare disease linked to the gene Methylcyclopentadiene...

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

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...

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...

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

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...

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...

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

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

Benjamin D. (2020-11-10). "A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance". Journal of Neurodevelopmental...

AL, Zhou Z, Zoghbi HY, Botas J (September 2008). "Genetic modifiers of MeCP2 function in Drosophila". PLOS Genetics. 4 (9): e1000179. doi:10.1371/journal...

of Edinburgh, Scotland, where he studied the methyl CpG binding protein MeCP2, part of the DNA methylation system, which is associated with Rett syndrome...

Thinking Overlaps with Idiopathic Generalized Epilepsies none Eating Unknown MECP2 Hot water Autosomal dominant 10q21.3–q22.3 4q24–q28 Synapsin 1 GPR56 Reading...