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A mecp2-null allele mutation zebrafish model is developed and the animals are viable and fertile.
MeCP2 dysfunction in excitatory neurons mediated elevated synchrony at baseline, while MeCP2 dysfunction in inhibitory neurons increased susceptibility to hypersynchronization in response to perturbations.
Loss of MeCP2 causes urological dysfunction and contributes to death by kidney failure in a mouse model of Rett syndrome.
MeCP2 expression in the medullary respiratory network is sufficient for normal respiratory rhythm and preventing apnea. MeCP2 expression in the HoxA4 (zeige HOXA4 Proteine) domain alone is critical for survival.
Mecp2 is responsive to neuronal stimulation and IGF1 (zeige IGF1 Proteine), and different stimuli have different effects on Mecp2 expression; this differential response may have downstream effects on functional mechanisms regulating brain development and plasticity.
MeCP2 binding to chromosomal DNA in mouse brain is proportional to mCAC (zeige SLC25A20 Proteine) + mCG density.
Results confirm and extend earlier published findings that specific aspects of cholesterol metabolism in the CNS, particularly the biosynthetic pathway, are disrupted in mouse models with loss-of-function mutations in Mecp2
Repression of TSC1 (zeige TSC1 Proteine)/TSC2 mediated by MeCP2 regulates human embryo lung fibroblast cell differentiation and proliferation.
Data suggest that newborn Mecp2 null cortical neurons display critical transcriptional defects that lead to reduced neuronal responsiveness, which, in turn, delays and disrupts proper neuronal maturation
absence leads to decreased cortical levels of the GAT-1 GABA transporter, facilitating cortical network hyper-excitability by increasing the activity of cortical GABAB receptors
Knockdown of methyl-CpG-binding protein leads to upregulation of microRNA-137, which in turn represses expression of PTEN protein.
Based on these findings, the authors suggest that MeCP2 recognition of methylated/hydroxymethylated CpA (zeige CPA1 Proteine) dinucleotides functions as an epigenetic switch redistributing MeCP2 among mCG and mCA (zeige RSPH1 Proteine) loci.
Following the recent demonstration of phenotype reversal in a mouse model of MECP2 Duplication, a clear understanding of the natural history is crucial to the design and implementation of future therapeutic strategies.
we could not find any significant correlation between specific MECP2 mutations and individual clinical features or global clinical score in Rett syndrome patients
findings demonstrate clear phenotype differences between FOXG1 (zeige FOXG1 Proteine) and MECP2 disorders.
Binding cooperativity makes MeCP2 an effective competitor with histone H1 (zeige H1F0 Proteine) for accessible DNA sites. The relationship between MeCP2 binding specificity and cooperativity is discussed in the context of chromatin binding, neuronal function, and neuronal development.
Our data indicate that these motifs are secondary contributors to DNA binding by MeCP2, and this view is supported by the absence of disease-causing missense mutations at these sites
Six patients (5 females and 1 male) with intellectual disability and present with some Rett syndrome features showed missense methyl-CpG binding protein 2 (MECP2) variants.
This study demonstrated that the MECP2 duplication of Autism showed that spine pathology in brain.
Our findings confirm a high mutation frequency in classic RTT (92%) and a correlation between the MECP2 mutation type and clinical severity. We also demonstrate limitations of XCI in explaining all of the phenotypic differences in RTT.
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
, meCP-2 protein
, methyl-CpG-binding protein MeCP2