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The genetic etiology of Rett syndrome (RTT) without MECP2, CDKL5 (显示 CDKL5 ELISA试剂盒), and FOXG1 (显示 FOXG1 ELISA试剂盒) mutations is heterogeneous, overlaps with other NDDs, and complicated by a high mutation burden. Dysregulation of chromatin structure and abnormal excitatory synaptic signaling may form two common pathological bases of RTT.
We provided the largest known Chinese pedigree with MECP2 duplication syndrome. X-chromosome inactivation (XCI) analysis on AR gene was detected for all female family members, and the microsatellite analysis on MECP2 was used to validate the recombination event on MECP2 region.
Until the mechanisms of sudden death and the basis for the QTc prolongation in a few RTT subjects are better understood, caution is advised when attempting to predict risk of sudden death in individuals with MECP2 mutations based on minimally increased QTc interval
MECP2 is regulated post-transcriptionally during in vitro differentiation of human embryonic stem cells (hESCs) into cortical neurons.
Large nuclear foci of high-copy satellite II RNA form and sequester copious MeCP2 into Cancer-Associated Satellite Transcript (CAST) bodies.
We describe here the first case of MECP2-related severe neonatal encephalopathy caused by a mutation in exon one of MECP2, a mutation rarely identified in females with Rett syndrome
DNA methylation of decoys alone did not affect target search kinetics. In the presence of the MeCP2 methyl-CpG-binding domain (MBD), however, DNA methylation of decoys substantially ( approximately 10-30-fold) accelerated the target search process of the Egr-1 zinc-finger protein. This acceleration did not occur when the target was also methylated.
When it binds methylated/hydroxymethylated DNA, MeCP2 recruits various interacting protein and RNA partners, resulting in a highly specialized chromatin organization wherein linker histones and MeCP2 share an organizational role that dynamically changes during neuronal development. MeCP2 mutations alter its chromatin-binding dynamics and interactions with some of its partners, causing Rett syndrome. Review.
MeCP2 regulates IGF1 (显示 IGF1 ELISA试剂盒) and BDNF (显示 BDNF ELISA试剂盒) levels, and when this gene is mutated both proteins have their expression decreased. In our study, we show that IGF1 (显示 IGF1 ELISA试剂盒) gene expression was not different between control and RTT neurons. Interestingly, IGF1R (显示 IGF1R ELISA试剂盒) has its gene expression increased in RTT neural cells compared to control
The expression of Rb and MeCP2 in patients with B-cell non-Hodgkin's lymphoma (B-NHL (显示 RTEL1 ELISA试剂盒)) showed that positive staining for MeCP2 or Rb was significantly lower in B-NHL (显示 RTEL1 ELISA试剂盒) tumor tissues, and these changes were significantly and negatively correlated with the grade of B-NHL (显示 RTEL1 ELISA试剂盒).
The authors show that BDNF acts cell autonomous and autocrine, as wildtype neurons are not capable of rescuing growth deficits in neighboring MeCP2 deficient neurons in vitro and in vivo.
MeCP2 is critical for normal function of cholinergic neurons and dysfunction of cholinergic neurons can contribute to numerous neuropsychiatric phenotypes.
Study found that cholinergic MeCP2 preservation could reverse some aspects of the Rett syndrome-like phenotypes in mice including hypolocomotion and increased anxiety level, and delay the onset of underweight, instead of improving the hypersocial abnormality and the poor general conditions such as short lifespan, low brain weight, and increasing severity score.
Here the authors show that genetically restoring Mecp2 expression only in GABAergic neurons of male Mecp2 null mice enhanced inhibitory signaling, extended lifespan, and rescued ataxia, apraxia, and social abnormalities but did not rescue tremor or anxiety.
MeCP2 deficiency in glutamatergic neurons leads to early lethality, obesity, tremor, altered anxiety-like behaviors, and impaired acoustic startle response, which is distinct from the phenotype of mice lacking MeCP2 only in inhibitory neurons.
these findings demonstrate that increasing MeCP2 T158M protein expression is sufficient to mitigate Rett syndrome-like phenotypes and support the targeting of MeCP2 T158M expression or stability as an alternative therapeutic approach.
Loss of Mecp2 is associated with Rett syndrome.
Mice that lacked Mecp2 in macrophages displayed spontaneous obesity, which was linked to impaired function of brown adipose tissue (BAT (显示 BAAT ELISA试剂盒)). Specifically, mutagenesis of a BAT (显示 BAAT ELISA试剂盒)-resident Cx3Cr1 (显示 CX3CR1 ELISA试剂盒)+ macrophage subpopulation compromised homeostatic thermogenesis but not acute, cold-induced thermogenesis. This was associated with diminished sympathetic innervation and local titers of norepinephrine.
that histone deacetylase 3 (显示 HDAC3 ELISA试剂盒) interaction with MeCP2 positively regulates a subset of neuronal genes through FOXO (显示 FOXO3 ELISA试剂盒) deacetylation, and disruption of HDAC3 (显示 HDAC3 ELISA试剂盒) contributes to cognitive and social impairment
provide new insight into the upstream regulation of Sap90/Psd95 (显示 DLG4 ELISA试剂盒)-associated protein 3 (显示 HSPB3 ELISA试剂盒) and establish the essential role of striatal Hdac1 (显示 HDAC1 ELISA试剂盒), Hdac2 (显示 HDAC2 ELISA试剂盒) and MeCP2 for suppression of repetitive behaviors
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