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MeCP2Methyl CpG (Cytosine Phosphate Guanine) Binding Protein 2
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Methyl CpG binding proteins and transcriptional repression.
Recent evidences showed that Methyl CpG binding domain protein 1 (MBD1) is expressed in neural stem cells (aNSCs) of dentate gyrus of the adult hippocampus and maintains the integrity and stemness of NSC by inhibiting differentiation [28].
The primary cause of Rett syndrome is caused by methyl CpG binding protein 2 (MeCP2) gene mutations that result in loss of function of MeCP2 [86].
Bressler, "Methyl CpG binding protein 2 deficiency enhances expression of inflammatory cytokines by sustaining NF-kB signaling in myeloid derived cells," Journal of Neuroimmunology, vol.
AS-like phenotypes have also been described with mutations in SLC9A6 [solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6], TCF4 (transcription factor 4), and MECP2 (methyl CpG binding protein 2) (9, 10).
The DNA methylation pattern is believed to be "read" by a conserved family protein, the methyl CpG binding domain (MBD) family (Jaenisch and Bird 2003; Wade 2001).
DNA methylation in TNR expansion disorders is thought to result in the silencing of gene transcription by two general mechanisms (i) preventing binding of basal transcription protein or other regulatory DNA binding proteins (e.g., CTCF) and (ii) influencing nucleosome positioning or stability and reinforcing heterochromatin formation through the actions of methyl CpG binding proteins (MBPs), histone modifications, and chromatin remodelling [18].
Methyl CpG binding proteins: Coupling chromatin architecture to gene regulation.
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.