Short CommunicationGenetic and Physical Mapping of a Gene Encoding a Methyl CpG Binding Protein, Mecp2, to the Mouse X Chromosome
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MeCP2 and transcriptional control of eukaryotic gene expression
2022, European Journal of Cell BiologyCitation Excerpt :In this study, MeCP2 was shown to be capable of binding to a single CpG site that was symmetrically methylated, without requiring further surrounding sequence specificity (Lewis et al., 1992; Meehan et al., 1992). The MECP2 gene is positioned on the X chromosome and is approximately 76 Kb in size (Quaderi et al., 1994). In females, one copy of the gene is silenced through X chromosome inactivation (Adler et al., 1995).
A High-Resolution Imaging Approach to Investigate Chromatin Architecture in Complex Tissues
2015, CellCitation Excerpt :MeCP2 is expressed to high levels in neurons and binds globally to methyl- and hydroxymethyl-cytosine within different dinucleotide contexts (Guo et al., 2014; Lewis et al., 1992; Mellén et al., 2012). Mecp2 is an X-linked gene (Quaderi et al., 1994), and cells in female RTT patients and mouse models are mosaic for loss of MeCP2 due to dosage compensation in mammals (Adler et al., 1995). This mosaicism provides an ideal experimental context wherein neurons with normal chromatin architecture are adjacent to Mecp2-null neurons.
Rett syndrome: From bed to bench
2011, Pediatrics and NeonatologyCitation Excerpt :Although the exact function of MeCP2 is still not known, it is an abundant nuclear protein and is considered likely to regulate gene expression whether through the silencing or activation of specific genes or through more global regulation (e.g. dampening) of transcriptional processes.5–7 An important feature in the etiology of RTT is the fact that MECP2 is located on the X chromosome, Xq28.8 Most mutations are sporadic and rarely inherited.
The role of MeCP2 in CNS development and function
2011, Hormones and BehaviorCitation Excerpt :While the disorder was originally described in 1966 (Rett, 1966), there was a major medical breakthrough in 1999 when mutations in the gene MeCP2 were discovered to be the primary cause (Amir et al., 1999). This discovery helped to explain the female prevalence of RTT, as MeCP2 is located on the X chromosome (Quaderi et al., 1994), and females that are heterozygous for the mutated MeCP2 allele are able to survive with this debilitating disorder due to X chromosome inactivation (Amir et al., 2000). Males that are hemizygous for MeCP2 mutations have a drastically shortened lifespan of approximately 2 years and typically develop congenital encephalopathy (Ravn et al., 2003; Villard et al., 2000).
The Story of Rett Syndrome: From Clinic to Neurobiology
2007, NeuronCitation Excerpt :In 1992, Dr. Adrian Bird and his colleagues identified a novel mammalian protein that binds methylated CpGs, methyl-CpG binding protein 2 (MeCP2) (Lewis et al., 1992). The gene encoding MeCP2 was localized to the X chromosome in the mouse (Quaderi et al., 1994), and the protein repressed transcription in vitro (Nan et al., 1997). Soon afterwards, additional members of the methyl-CpG binding protein family were identified and included methyl-CpG binding domain proteins (MBD) 1–4 (Hendrich and Bird, 1998).