gopubmed logo
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Chromodomain helicase DNA binding protein 8

CHD8, Duplin, chromodomain-helicase-DNA binding protein 8
This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. It binds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate early development and morphogenesis. Mice lacking this gene exhibit early embryonic death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] (from NCBI)
Top mentioned proteins: CAN, Chordin, Histone, CHD7, CHIP
Papers on CHD8
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
Ernst et al., Montréal, Canada. In Am J Med Genet A, Feb 2016
UNASSIGNED: Mutations in chromodomain helicase DNA-binding domain 8 (CHD8) have been identified in independent genotyping studies of autism spectrum disorder.
Common BRAF(V600E)-directed pathway mediates widespread epigenetic silencing in colorectal cancer and melanoma.
Green et al., Worcester, United States. In Proc Natl Acad Sci U S A, Feb 2016
Promoter-bound MAFG recruits a set of corepressors that includes its heterodimeric partner BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), the chromatin remodeling factor chromodomain helicase DNA-binding protein 8 (CHD8), and the DNA methyltransferase DNMT3B, resulting in hypermethylation and transcriptional silencing.
The Short Isoform of NSD3 Couples BRD4 and CHD8 to Drive Transcription.
In Cancer Discov, Jan 2016
BRD4-mediated transactivation activity in AML depends upon its interaction with NSD3-short.
NSD3-Short Is an Adaptor Protein that Couples BRD4 to the CHD8 Chromatin Remodeler.
Vakoc et al., United States. In Mol Cell, Jan 2016
We show that NSD3-short is an adaptor protein that sustains leukemia by linking BRD4 to the CHD8 chromatin remodeler, by using a PWWP chromatin reader module, and by employing an acidic transactivation domain.
First glimpses of the neurobiology of autism spectrum disorder.
Sanders, San Francisco, United States. In Curr Opin Genet Dev, Aug 2015
Both gene sets are also regulatory targets of the ASD genes CHD8 and FMRP.
Excess of rare, inherited truncating mutations in autism.
Eichler et al., Seattle, United States. In Nat Genet, Jun 2015
We also observe a bias for inherited CNVs, specifically for small (<100 kb), maternally inherited events (P = 0.01) that are enriched in CHD8 target genes (P = 7.4 × 10(-3)).
The promise of multi-omics and clinical data integration to identify and target personalized healthcare approaches in autism spectrum disorders.
Kolker et al., Seattle, United States. In Omics, Apr 2015
Novel ASD subtypes have been proposed, such as CHD8, using this molecular subtyping approach.
The Chromatin Regulator CHD8 Is a Context-Dependent Mediator of Cell Survival in Murine Hematopoietic Malignancies.
Hemann et al., Cambridge, United States. In Plos One, 2014
We identified the chromatin-modifying protein CHD8 as necessary for cell survival in a mouse model of BCR-Abl+ B-cell acute lymphoblastic leukemia.
Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology.
O'Roak et al., Portland, United States. In Front Neurosci, 2014
Here we review recent genetic, animal model, co-expression network, and functional genomics studies relating to the high confidence ASD risk gene, CHD8.
Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers.
Courchesne et al., San Diego, United States. In Mol Syst Biol, 2014
Finally, analyses of the CHD8 subnetwork and altered transcript levels from an independent study of CHD8 suppression further confirmed the central role of genes regulating neurogenesis and cell adhesion processes in ASD brain maldevelopment.
Disruptive CHD8 mutations define a subtype of autism early in development.
Eichler et al., Seattle, United States. In Cell, 2014
Hypothesizing that genetically based subtype identification may prove more productive, we resequenced the ASD-associated gene CHD8 in 3,730 children with developmental delay or ASD.
A de novo convergence of autism genetics and molecular neuroscience.
Eichler et al., Seattle, United States. In Trends Neurosci, 2014
Targeted large-scale resequencing studies have confirmed the significance of specific loci, including chromodomain helicase DNA binding protein 8 (CHD8), sodium channel, voltage-gated, type II, alpha subunit (SCN2A), dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A), and catenin (cadherin-associated protein), beta 1, 88 kDa (CTNNB1, beta-catenin).
From neural development to cognition: unexpected roles for chromatin.
Crabtree et al., Stanford, United States. In Nat Rev Genet, 2013
We discuss several implicated chromatin regulators, including BAF (also known as SWI/SNF) and CHD8 chromatin remodellers, HDAC4 and the Polycomb component EZH2.
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Shendure et al., Seattle, United States. In Science, 2013
We estimate that recurrent disruptive mutations in six genes-CHD8, DYRK1A, GRIN2B, TBR1, PTEN, and TBL1XR1-may contribute to 1% of sporadic ASDs.
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Daly et al., Boston, United States. In Nature, 2012
results from de novo events and a large parallel case-control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Gusella et al., Boston, United States. In Cell, 2012
We sequenced BCAs in patients with autism or related NDDs, revealing disruption of 33 loci in four general categories: (1) genes previously associated with abnormal neurodevelopment (e.g., AUTS2, FOXP1, and CDKL5), (2) single-gene contributors to microdeletion syndromes (MBD5, SATB2, EHMT1, and SNURF-SNRPN), (3) novel risk loci (e.g., CHD8, KIRREL3, and ZNF507), and (4) genes associated with later-onset psychiatric disorders (e.g., TCF4, ZNF804A, PDE10A, GRIN2B, and ANK3).
Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway.
Nakayama et al., Fukuoka, Japan. In Mol Cell Biol, 2012
Chd8 promotes the association of beta-catenin and histone H1, with formation of the trimeric complex on chromatin being required for inhibition of beta-catenin-dependent transactivation.
Regulation of serum response factor activity and smooth muscle cell apoptosis by chromodomain helicase DNA-binding protein 8.
Herring et al., Indianapolis, United States. In Am J Physiol Cell Physiol, 2010
These data suggest that CHD8 plays a dual role in smooth muscle cells modulating SRF activity toward differentiation genes and promoting cell survival through interactions with both SRF and CTCF to regulate expression of Birc5 and CARD10.
CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
Pauli et al., Göttingen, Germany. In Hum Mol Genet, 2010
Disruption of the direct CHD7-CHD8 interaction might chang the conformation of a putative large complex and could be a disease mechanism in CHARGE syndrome.
Regulation of androgen-responsive transcription by the chromatin remodeling factor CHD8.
Bochar et al., Ann Arbor, United States. In Mol Endocrinol, 2010
The recruitment of AR to the TMPRSS2 promoter in response to androgen treatment requires CHD8.
share on facebooktweetadd +1mail to friends