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Chromatin remodeling is the dynamic modification of chromatin ... embryonic development and pluripotency, and cell-cycle progression. ... contributes changes in ...
CHD8 expression significantly increases during human mid-fetal development. [7] The chromatin remodeling activity and its interaction with transcriptional regulators have shown to play an important role in ASD aetiology. [15] The developing mammalian brain has a conserved CHD8 target regions that are associated with ASD risk genes. [8]
Mutually exclusive incorporation of the variants into the larger SWI/SNF complex are thought to direct the complex to remodel particular sites in chromatin, leading to alterations in gene activity that dictate cell behavior or differentiation during development and disease. [8]
In molecular biology, SWI/SNF (SWItch/Sucrose Non-Fermentable), [1] [2] is a subfamily of ATP-dependent chromatin remodeling complexes, which is found in eukaryotes.In other words, it is a group of proteins that associate to remodel the way DNA is packaged.
There are four subfamilies of chromatin remodelers: SWI/SNF, INO80, ISW1, and CHD. [2] The RSC complex is a 15-subunit chromatin remodeling complex initially found in Saccharomyces cerevisiae, and is homologous to the SWI/SNF complex found in humans. [1] The RSC complex has ATPase activity in the presence of DNA. [1]
The NuRD complex contains seven subunits: the histone deacetylase core proteins HDAC1 and HDAC2, the histone-binding proteins RbAp46 and RbAp48, the metastasis-associated proteins MTA1 (or MTA2 / MTA3), the methyl-CpG-binding domain protein MBD3 (or MBD2) and the chromodomain-helicase-DNA-binding protein CHD3 (aka Mi-2alpha) or CHD4 (aka Mi-2beta).
This N-terminal region can be cleaved off by caspase-6 [29] [30] and caspase-3 [31] during apoptosis, resulting in dissociation from the chromatin. The CUT1 domain contains a five-helix structure that is crucial for SATB1 binding to MARs with the third helix deeply entering the major groove of the DNA and making direct contacts with the bases. [10]
The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Two transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism .