近年来的研究表明，Rett综合征与X染色体上的 甲基化CpG结合蛋白2 (MeCP2)基因的突变密切相关。 MeCP2有两个主要的结构功能域，甲基化DNA结合域 (methyl-DNA binding domain, MBD)和转录抑制域 ( Transcription repression domain, TRD)，甲基化DNA结合域可以结合甲基化的DNA，转录抑制域可以通过募集转录抑制复合物抑制基因表达。 该蛋白的序列除了MBD 外，在MBD的两端各有一个较长的IDR 区域。 Rett综合征病人MeCP2基因的突变大多数都集中 …

Methyl-CpG-binding protein 2 (MeCP2) is a nuclear protein highly expressed in neurons that is involved in transcriptional modulation and chromatin remodeling. Mutations in MECP2 in females are associated with Rett syndrome, a neurological disorder characterized by a normal neonatal period, followed …

MeCP2 has two well-characterized functional domains: the methyl-CpG-binding domain (MBD) that can bind selectively to DNA at symmetrically methylated CpGs 10 and the transcription repression domain (TRD) 11.

2020年2月28日 · Together, our results suggest that the TRD domain participates in the MeCP2-MeCP2 interaction, which is critical for MeCP2-mediated chromatin phase separation, and the RTT TRD mutations...

2020年6月16日 · MeCP2 have two key functional domains: the methyl-DNA binding domain (MBD) and the transcriptional repressor domain (TRD). Almost all of missense Rett mutations are clustered in these two...

2015年4月24日 · MeCP2 contains a N-terminal domain (NTD), a methyl-binding domain (MBD), an intervening domain (ID), a transcriptional-repressor domain (TRD) and a C-terminal domain (CTD; Hansen et al., 2011). Common mutations found in RTT patients are primarily clustered within the MBD and the TRD of MeCP2 (Bienvenu and Chelly, 2006 ; Heckman et al., 2014 ).

Two domains of MeCP2, the methyl DNA binding domain (MBD; residues 78–163) and the transcriptional regulation domain (TRD; residues 207–310), have been identified based on function.

2001年12月1日 · The founder member of the family, MeCP2, consists of a single polypeptide that contains both a methyl-CpG binding domain (MBD) and transcriptional repression domain (TRD). MBD binds to a single symmetrically methylated CpG site and is responsible for chromatin localization of the protein.

2003年2月14日 · An interaction of Dnmt1 and MeCP2 is dependent upon the TRD in the C-terminal region of MeCP2in vivo. Therefore, the MBD of MeCP2 within the complex could bind hemimethylated DNA, targeting Dnmt1 activity to MeCP2-responsive genes.

MeCP2 is a nuclear protein that binds to methylated CpG di-nucleotides but can also bind to non-methylated DNA. Upon binding, the TRD of MeCP2 interacts with transcriptional suppressive complexes such as mammalian switch-independent 3A …