Recombinant Human Methyl-CpG-binding protein 2 (MECP2)

1. Autism-related protein MeCP2 regulates FGF13 expression and emotional behaviors PMID: 27916441
2. the apparent length-dependent trends previously observed in MeCP2 microarray and RNA-sequencing datasets disappear after estimating baseline variability from randomized control samples. PMID: 30104565
3. our data suggest that MeCP2 plays an essential role in TGF-beta1-induced myofibroblast differentiation and extracellular matrix production in nasal polyp-derived fibroblasts PMID: 29676176
4. These findings highlight the critical role of miR-137-c-Met nexus in colorectal cancer (CRC) development and reveal Mecp2-regulated epigenetic silence causes the downregulation of miR-137 in colorectal adenoma and carcinoma. PMID: 28291253
5. 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. PMID: 30226965
6. These data showed an intimate interplay among miR-19a/b methylation, MeCP2 activity, and multidrug resistance, revealing a potential therapeutic target for gastric cancer. PMID: 29568890
7. 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. PMID: 29428920
8. C5-cytosine methylation entropically favors complexation by the MBD domain of the human MeCP2 protein with almost no contribution of the binding enthalpy. PMID: 28374217
9. The s 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. PMID: 29313799
10. 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. PMID: 29991054
11. 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. PMID: 29288368
12. 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 PMID: 29199882
13. 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) PMID: 28230711
14. Males with Rett syndrome and missense mutations in MECP2 display a phenotype that correlates with impaired function of MECP2. PMID: 27929079
15. Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction PMID: 29428602
16. This study suggests that methylation of Wnt pathway genes, in addition to known CpG island methylator phenotype markers, may help predict treatment outcome and survival in patients with CRC[colorectal cancer. PMID: 29869456
17. Results show that highly expressed phospho-MeCP2-S421 and its association with VEGF in proliferative diabetic retinopathy (PDR) membranes suggests that phospho-MeCP2-S421 might involve in the pathogenesis of PDR. PMID: 27616658
18. MeCP2 behaves similarly to histone H1 and HMGD1 in creating a higher-order chromatin structure, which is susceptible to chromatin remodeling by ISWI. PMID: 27624769
19. these lines of evidence strongly suggest that MeCP2-P152L, MeCP2-R294X, and MeCP2-P376S, identified in autism patients, affect the proper physiological functions of the MeCP2 protein and thus may contribute the pathogenesis of autism. PMID: 28785396
20. Data show that miR-98 could inhibit Mecp2 expression by binding the 3'-untranslated region (UTR) of methyl CpG binding protein 2 (Mecp2). PMID: 27573367
21. Missense mutations in the gene disrupt the interaction of the MeCP2 with TBLR1 resulting in Rett syndrome and related disorders. PMID: 28348241
22. Two putative modulators of MeCP2, HIPK2 (homeodomain-interacting protein kinase 2) and PP2A (protein phosphatase 2A), were validated as stabilizers of MeCP2 in vivo. PMID: 28835516
23. This study identified 2 RTT patients each with pathogenic double MECP2 mutation. Indeed, the first one was a novel double mutation. PMID: 28399682
24. MBD family is involved in the pathogenesis of Chronic Hepatitis B and is correlated with disease progression, suggesting the value in evaluating disease severity. PMID: 28065745
25. MeCP2 tunes gene expression in neurons by binding within the transcribed regions of genes to impede the elongation of RNA polymerase PMID: 27965390
26. Data on the effects of the Ala2Val mutation on N-terminal modifications of MeCP2 may be applicable to Ala2Val mutations in other disease genes for which no etiopathological mechanism has been established. PMID: 28973632
27. Therefore, this is the first study which highlights a novel double mutation among the transcription repression domain (TRD) of MeCP2 protein in Rett patient with a severe clinical phenotype in North Africa region. PMID: 29421650
28. Severe MECP2 mutations (R106W, R168X, R255X, R270X, and large deletions) showed a higher proportion of scoliosis. PMID: 28347601
29. s have identified mutations in PAK3, CASK, and MECP2 that likely contribute to intellectual disability, and the findings extend the spectrum of mutations and phenotypes associated with X-linked intellectual disability. PMID: 28481730
30. a mechanism how L1 elements get activated in the absence of Mecp2 PMID: 28524723
31. MeCP2 in cholinergic neurons is necessary and sufficient for autonomic cardiac control, thermoregulation, and survival. PMID: 28159985
32. MECP2 mutation is associated with Rett syndrome. PMID: 28394482
33. The reported loss of the MECP2 function induced by the simulated mutations can be ascribed to both stabilizing and destabilizing effect on DNA binding. PMID: 27546046
34. Low MECP2 expression is associated with pancreatic cancer. PMID: 26910839
35. There are AT-hook motifs in MeCP2 which can bind with AT-rich DNA, suggesting a role in chromatin binding. This study reports the identification and characterization of another AT-rich DNA binding motif (residues 295 to 313) from the C-terminal transcription repression domain of MeCP2 by nuclear magnetic resonance (NMR) and isothermal calorimetry . PMID: 29101034
36. glycogenes can be either up- or down-regulated by MeCP2 directly or indirectly to alter the glycopatterning and affect the proliferation and apoptosis of gastric cancer cells. PMID: 28100567
37. The MeCP2, a protein whose mutated forms are involved in Rett syndrome; and CTCF, a constitutive transcriptional insulator. PMID: 28796949
38. MECP2 promotes the proliferation of gastric cancer cells via miR-338 (miR-338-3p and miR-338-5p)-mediated antitumor and gene regulatory effect. PMID: 27166996
39. The genetic etiology of Rett syndrome (RTT) without MECP2, CDKL5, and FOXG1 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. PMID: 27171548
40. 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. PMID: 29141583
41. 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 PMID: 28394409
42. MECP2 is regulated post-transcriptionally during in vitro differentiation of human embryonic stem cells (hESCs) into cortical neurons. PMID: 27732849
43. Large nuclear foci of high-copy satellite II RNA form and sequester copious MeCP2 into Cancer-Associated Satellite Transcript (CAST) bodies. PMID: 28329686
44. 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 PMID: 27090848
45. 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. PMID: 28486614
46. 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. PMID: 28523538
47. MeCP2 regulates IGF1 and BDNF levels, and when this gene is mutated both proteins have their expression decreased. In our study, we show that IGF1 gene expression was not different between control and RTT neurons. Interestingly, IGF1R has its gene expression increased in RTT neural cells compared to control PMID: 28007906
48. The expression of Rb and MeCP2 in patients with B-cell non-Hodgkin's lymphoma (B-NHL) showed that positive staining for MeCP2 or Rb was significantly lower in B-NHL tumor tissues, and these changes were significantly and negatively correlated with the grade of B-NHL. PMID: 27377594
49. MECP2 was increased at both mRNA and protein levels in gastric cancer (GC) compared with paracancerous tissues; MECP2 positive expression was correlated with the TNM stages, histological types, and lymph node metastasis status, but not with sex or age; dysregulated expression of MECP2 in GC and its correlation to clinicopathological parameters indicate that MECP2 may regulate the development of GC PMID: 28767600
50. that histone deacetylase 3 interaction with MeCP2 positively regulates a subset of neuronal genes through FOXO deacetylation, and disruption of HDAC3 contributes to cognitive and social impairment PMID: 27428650

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HGNC: 6990

OMIM: 105830

KEGG: hsa:4204

STRING: 9606.ENSP00000395535

UniGene: Hs.200716