2024年12月25日 · MECP2 (Methyl-CpG Binding Protein 2) is a Protein Coding gene. Diseases associated with MECP2 include Rett Syndrome and Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations. Among its related pathways are Transcriptional Regulation by MECP2 and Gene expression (Transcription).

2024年8月20日 · We discovered that MeCP2 exhibits distinct one-dimensional diffusion kinetics when bound to unmethylated versus CpG methylated DNA, enabling methylation-specific activities such as co-repressor...

This gene has 11 transcripts (splice variants), 1 gene allele, 1 paralogue and is associated with 22 phenotypes.

Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome (RTT), a rare neurodevelopmental disorder with a notable period of developmental regression following apparently normal initial development.

Two autistic disorder females were found to have de novo mutations in the MECP2 gene, one a 41-bp deletion beginning at nucleotide 1157 (300005.0012), the other an arg294-to-ter mutation (300005.0011), which is one of the most common RTT mutations in MECP2.

Until recently, transcripts from the MECP2 gene locus were limited to a 76-kb interval positioned in the 125-kb gap between the neighbouring genes, encoding the interleukin-1 receptor (IRAK1) and a long-wavelength sensitive opsin (OPN1LW).

2022年6月1日 · MECP2 gene mutations in RTT patients that occur in MeCP2 IDR2 and methyl-CpG-binding domain, could contribute to the formation of condensates. To verify if mutations in these domains in RTT patients disrupt the condensates forming ability of MeCP2, researchers have studied MeCP2-EGFP proteins with similar mutations to that of RTT patients in ...

In this review, we will discuss the heuristic evolution of the view of MeCP2, from a single function protein to a multifunctional nuclear protein that directly affects chromatin architecture and is involved with gene expression in unanticipated ways.

2025年2月8日 · 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. Alternative splicing results in multiple …

2025年3月13日 · To analyze the molecular mechanism of MeCP2 alternative splicing, we prepared a splicing reporter based on the H492 vector that contains a portion of the mouse Mecp2 gene including exon 2 and approximately 500 bp of the flanking introns at both sides (Figure 1B). This plasmid, termed pH492-E2 reporter, was introduced into mouse Neuro 2a cells ...