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Human MECP2 Protein expressed in Wheat germ - ABIN1310622
Nott, Cheng, Gao, Lin, Gjoneska, Ko, Minhas, Zamudio, Meng, Zhang, Jin, Tsai: Histone deacetylase 3 associates with MeCP2 to regulate FOXO and social behavior. in Nature neuroscience 2016
Here we report a 10-year--10-months old male patient having overlapping clinical features of MECP2 duplication syndrome, AS and ASDs. He had mental retardation, lack of speech and developmental delay, and also dysmorphic features such as plagiocephaly, retrognathia, hyperextensible joints in fingers and elbows, broad great toe and three different sizes of cafe au laits.
These data showed an intimate interplay among miR-19a/b methylation, MeCP2 activity, and multidrug resistance, revealing a potential therapeutic target for gastric cancer.
In an Indian population, the yield of the mutation detection in MECP2 is higher in classical Rett syndrome. In girls with some Rett like features, but not fulfilling revised Rett syndrome diagnostic criteria, mutation testing for MECP2 gene has a low yield.
C5-cytosine methylation entropically favors complexation by the MBD domain of the human MeCP2 protein with almost no contribution of the binding enthalpy.
The authors find that astrocyte stimulation in wild-type mice increases excitatory synaptic activity that is absent in male mice lacking MeCP2 globally. The defect is dependent upon MeCP2 expression status in the astrocytes and not in the neurons.
These dysregulated genes provide a better understanding of the underlying mechanisms of the effect of MeCP2 on heart failure and might be used as targets and prognostic markers of heart failure.
MECP2 gene rs17435 polymorphism was associated with juvenile idiopathic arthritis predisposition. Considering the involvement of genetic polymorphisms of MECP2 gene in susceptibility to adult-onset RA, this gene might basically play a role in the initiation of arthritis during early stages of life.
MECP2 is not associated with disease susceptibility in JSLE patients, implying the involvement of different susceptibility genes in the pathogenesis of Systemic Lupus Erythematosus and Juvenile-Onset Systemic Lupus Erythematosus
We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. We found a c.491G>T [ChrX:153296788C>A (Hg19)] transversion in exon 4 of the MECP2 gene in both patients. It was predicted to change a highly conserved serine to isoleucine, p.(Ser164Ile)
Males with Rett syndrome and missense mutations in MECP2 display a phenotype that correlates with impaired function of MECP2.
MeCP2 regulated mRNA splicing in the brain through interacting with 5-hydroxymethylcytosine and epigenetic changes in histone markers.
Study in female mouse model for Rett syndrome shows that low-level MECP2 expression in the brain can have a disproportionately positive impact on health and survival.
genetic reactivation of Xi-linked Mecp2 in cerebral cortical neurons of living mice bearing a homozygous XCIF deletion. Collectively, our results further establish the feasibility of pharmacological reactivation of Xi-linked MECP2 as a therapeutic approach for RTT.
Authors used a well-characterized motor suppressive effect of nAChR agonists on mouse open field locomotor behavior to probe effects of MeCP2 mutation on cholinergic transmission.
Protein levels of p-MeCP2 were increased in high glucose or TGF-beta (show TGFB1 Proteins)-treated mouse glomerular mesangial cells. The SIAH1 (show SIAH1 Proteins)/HIPK2 (show HIPK2 Proteins)/MeCP2 axis played a novel role for in suppressing miR (show MLXIP Proteins)-25 processing and thereby upregulating NOX4 (show NOX4 Proteins) in early diabetic nephropathy.
Study shows defective GABAergic neurotransmission in the nucleus tractus solitarius (NTS) methyl-CpG binding protein 2-null mice, a model of Rett syndrome. In addition the study found an increase in the delta subunit of the GABAA-receptors in the NTS in Mecp2-null mice, consistent with increased extrasynaptic receptors.
disruption of AT-hook 1 domain in MeCP2 caused behavioral abnormality in mice, which suggests that AT-hook 1 is a critical region for the function of MeCP2 protein
temporal regulation of S164 phosphorylation controls the ability of MeCP2 to regulate neuronal morphology.
Two putative modulators of MeCP2, HIPK2 (homeodomain-interacting protein kinase 2 (show HIPK2 Proteins)) and PP2A (show PPP2R2B Proteins) (protein phosphatase 2A), were validated as stabilizers of MeCP2 in vivo.
BMP/TGF-beta signaling pathway regulates X-inactive specific transcript (XIST), and whose down-regulation reactivated the methyl CpG binding protein 2 (MeCP2) reporter on the inactive X chromosome (Xi).
Mecp2 is required for tnfa (show TNF Proteins) expression during zebrafish development and inflammation.
The results of this study imply that Mecp2 is an important functional regulator of bdnf (show BDNF Proteins) gene expression during neural circuit formation in zebrafish embryo
a proteomic analysis to examine protein expression changes in mecp2-null vs. wild-type larvae and adult zebrafish
A mecp2-null allele mutation zebrafish model is developed and the animals are viable and fertile.
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. 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 mental retardation in females.
, methyl-CpG-binding protein 2
, meCP-2 protein
, methyl-CpG-binding protein MeCP2