MECP2 (methyl CpG binding protein 2) is a gene[5] that encodes the protein MECP2.[6] MECP2 appears to be essential for the normal function of nerve cells. The protein seems to be particularly important for mature nerve cells, where it is present in high levels. The MECP2 protein is likely to be involved in turning off ("repressing" or "silencing") several other genes. This prevents the genes from making proteins when they are not needed. Recent work has shown that MECP2 can also activate other genes.[7] The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 ("Xq28"), from base pair 152,808,110 to base pair 152,878,611.
MECP2 is an important reader of DNA methylation. Its methyl-CpG-binding (MBD) domain recognizes and binds 5-mC regions. MECP2 is X-linked and subject to X inactivation. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females.[8] At least 53 disease-causing mutations in this gene have been discovered.[9]
^ abcGRCh38: Ensembl release 89: ENSG00000169057 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000031393 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY (October 1999). "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2". Nat. Genet. 23 (2): 185–8. doi:10.1038/13810. PMID 10508514. S2CID 3350350.
^Lewis JD, Meehan RR, Henzel WJ, Maurer-Fogy I, Jeppesen P, Klein F, Bird A (June 1992). "Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA". Cell. 69 (6): 905–14. doi:10.1016/0092-8674(92)90610-O. PMID 1606614. S2CID 6825994.
^Chahrour M, et al. (2008). "MECP2, a key contributor to neurological disease, activates and represses transcription". Science. 320 (5880): 1224–9. Bibcode:2008Sci...320.1224C. doi:10.1126/science.1153252. PMC 2443785. PMID 18511691.
^"Entrez Gene: MECP2 methyl CpG binding protein 2 (Rett syndrome)".
^Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.
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...
The genetic defect of the transcriptional regulator MECP2 is responsible for Rett syndrome. A MECP2 deficiency has been associated to catecholaminergic...
"Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome". Annals of Neurology. 66 (6): 771–782. doi:10.1002/ana...
Ketamine, as well as the epigenetic regulation of synaptic transmission by MeCP2. Monteggia pursued her undergraduate education at the University of Illinois...
1999, a postdoctoral researcher in Zoghbi's lab identified MECP2 as the causative gene. The MECP2 protein binds methylated cytosine (5-methylcytosine) in...
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...
research has focused on CpG islands and their associated binding-factor MeCP2. He led the team which first identified CpG islands—originally named "HpaII...
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...
androgen receptor. Mutations involving the production of extra copies of the MECP2 and IRAK1 genes within Xq28 have been associated with phenotypes including...
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...
syndrome Down syndrome Fetal valproate spectrum disorder Fragile X syndrome MECP2 duplication syndrome Neurofibromatosis type I Noonan syndrome PTEN hamartoma...
2005). "Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3". Human Molecular...
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...
to hmC appears to disrupt the binding of 5mC-binding proteins including MECP2 and MBD (Methyl-CpG-binding domain) proteins, facilitating nucleosome remodeling...
Benjamin D. (2020-11-10). "A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance". Journal of Neurodevelopmental...
of UBE3A and GABRB3 is observed in MeCP2 deficient mice and ASD patients. This effect seems to happen without MeCP2 directly binding to the promoters of...
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...
is very important. In particular, loss of methyl-CpG-binding protein 2 (MeCP2) has been implicated in Rett syndrome; and methyl-CpG-binding domain protein...
et al. (2018) found a strong association between this gene and autism. MECP2 300496, AUTSX3 Xq28 Mutations in this gene can give rise to autism spectrum...
Rigo, Frank; Zoghbi, Huda Y. (December 2015). "Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides". Nature...
mutation in the MeCP2 gene. This mutation results in less MeCP2. KCNJ10 expression is upregulated by the transcription factor MeCP2. MeCP2 deficiency leads...
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