CHD8
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Chromodomain-helicase-DNA-binding protein 8 is an enzyme that in humans is encoded by the CHD8 gene.[1][2]
Function
[edit | edit source]The gene CHD8 encodes the protein chromodomain helicase DNA binding protein 8,[3] which is a chromatin regulator enzyme that is essential during fetal development.[4] CHD8 is an ATP dependent enzyme.[5]
The protein contains an Snf2 helicase domain that is responsible for the hydrolysis of ATP to ADP.[5] CHD8 encodes for a DNA helicase that function as a transcription repressor by remodeling chromatin structure by altering the position of nucleosomes.[4] CHD8 negatively regulates Wnt signaling.[6] Wnt signaling is important in the vertebrate early development and morphogenesis. It is believed that CHD8 also recruits the linker histone H1 and causes the repression of β-catenin and p53 target genes.[3] The importance of CHD8 can be observed in studies where CHD8-knockout mice died after 5.5 embryonic days because of widespread p53 induced apoptosis.[3]
Recently CD8 has been associated to the regulation of long non-coding RNAs (lncRNAs),[7] and the regulation of X chromosome inactivation (XCI) initiation, via regulation of Xist long non-coding RNA, the master regulator of XCI, though competitive binding to Xist regulatory regions.[8]
Clinical significance
[edit | edit source]Mutations in this gene have been linked to a subset of autism[9] cases in human and mouse models.[10]
Mutations in CHD8 could lead to upregulation of β-catenin-regulated genes; in some part of the brain this upregulation can cause brain overgrowth also known as macrocephaly.[4]
Some studies have determined the role of CHD8 in autism spectrum disorder (ASD).[4] CHD8 expression significantly increases during human mid-fetal development.[3] The chromatin remodeling activity and its interaction with transcriptional regulators have shown to play an important role in ASD aetiology.[11] The developing mammalian brain has a conserved CHD8 target regions that are associated with ASD risk genes.[4] The knockdown of CHD8 in human neural stem cells results in dysregulation of ASD risk genes that are targeted by CHD8.[12]
References
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External links
[edit | edit source]- Human CHD8 genome location and CHD8 gene details page in the UCSC Genome Browser.
- Overview of all the structural information available in the PDB for UniProt: Q9HCK8 (Chromodomain-helicase-DNA-binding protein 8) at the PDBe-KB.
Further reading
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