CHD8

Summary

Gene Symbol: CHD8
Description: chromodomain helicase DNA binding protein 8
Alias: AUTS18, HELSNF1, chromodomain-helicase-DNA-binding protein 8, ATP-dependent helicase CHD8, axis duplication inhibitor, duplin, helicase with SNF2 domain 1
Species: human
Products:     CHD8

Top Publications

  1. Batsukh T, Pieper L, Koszucka A, von Velsen N, Hoyer Fender S, Elbracht M, et al. CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Hum Mol Genet. 2010;19:2858-66 pubmed publisher
    ..These data encouraged us to search for CHD7 binding partners by a yeast two-hybrid library screen and CHD8 was identified as an interacting partner...
  2. Nishiyama M, Skoultchi A, Nakayama K. Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-?-catenin signaling pathway. Mol Cell Biol. 2012;32:501-12 pubmed publisher
    ..Among mammalian CHD proteins, CHD8 was originally isolated as a negative regulator of the Wnt-?-catenin signaling pathway that binds directly to ?-..
  3. Huang S, Li X, Yusufzai T, Qiu Y, Felsenfeld G. USF1 recruits histone modification complexes and is critical for maintenance of a chromatin barrier. Mol Cell Biol. 2007;27:7991-8002 pubmed
    ..These results show that USF1 plays a direct role in maintaining the barrier, supporting a model in which the insulator works as a barrier by maintaining a local environment of active chromatin. ..
  4. Yuan C, Zhao X, Florens L, Swanson S, Washburn M, Hernandez N. CHD8 associates with human Staf and contributes to efficient U6 RNA polymerase III transcription. Mol Cell Biol. 2007;27:8729-38 pubmed
    ..with several proteins linked to chromatin modification, among them chromodomain-helicase-DNA binding protein 8 (CHD8). CHD8 binds to histone H3 di- and trimethylated on lysine 4...
  5. Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, et al. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc Natl Acad Sci U S A. 2014;111:E4468-77 pubmed publisher
    Truncating mutations of chromodomain helicase DNA-binding protein 8 (CHD8), and of many other genes with diverse functions, are strong-effect risk factors for autism spectrum disorder (ASD), suggesting multiple mechanisms of pathogenesis...
  6. Rodríguez Paredes M, Ceballos Chávez M, Esteller M, Garcia Dominguez M, Reyes J. The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene. Nucleic Acids Res. 2009;37:2449-60 pubmed publisher
    b>CHD8 is a chromatin remodeling ATPase of the SNF2 family. We found that depletion of CHD8 impairs cell proliferation...
  7. Sakamoto I, Kishida S, Fukui A, Kishida M, Yamamoto H, Hino S, et al. A novel beta-catenin-binding protein inhibits beta-catenin-dependent Tcf activation and axis formation. J Biol Chem. 2000;275:32871-8 pubmed
    ..Here we report a novel protein, designated Duplin (for axis duplication inhibitor), which negatively regulates the function of beta-catenin in the nucleus...
  8. Subtil Rodríguez A, Vázquez Chávez E, Ceballos Chávez M, Rodríguez Paredes M, Martin Subero J, Esteller M, et al. The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes. Nucleic Acids Res. 2014;42:2185-96 pubmed publisher
    ..Here we show ChIP-on-chip studies that reveal that the chromatin remodeller CHD8 binds ? 2000 transcriptionally active promoters...
  9. Menon T, Yates J, Bochar D. Regulation of androgen-responsive transcription by the chromatin remodeling factor CHD8. Mol Endocrinol. 2010;24:1165-74 pubmed publisher
    ..Here we identify the ATP-dependent chromatin remodeling factor chromodomain helicase DNA-binding protein 8 (CHD8) as a novel coregulator of androgen-responsive transcription...

More Information

Publications80

  1. Nishiyama M, Oshikawa K, Tsukada Y, Nakagawa T, Iemura S, Natsume T, et al. CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis. Nat Cell Biol. 2009;11:172-82 pubmed publisher
    ..Here we show that CHD8 is expressed at a high level during early embryogenesis and prevents apoptosis mediated by the tumour suppressor ..
  2. Thompson B, Tremblay V, Lin G, Bochar D. CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. Mol Cell Biol. 2008;28:3894-904 pubmed publisher
    ..Here we report that full-length CHD8 interacts directly with beta-catenin and that CHD8 is also recruited specifically to the promoter regions of ..
  3. Yates J, Menon T, Thompson B, Bochar D. Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8. FEBS Lett. 2010;584:689-93 pubmed publisher
    Chromodomain, helicase, DNA-binding protein 8 (CHD8) is an ATP-dependent chromatin remodeling enzyme that has been demonstrated to exist within a large protein complex which includes WDR5, Ash2L, and RbBP5, members of the Mixed Lineage ..
  4. Bernier R, Golzio C, Xiong B, Stessman H, Coe B, Penn O, et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 2014;158:263-276 pubmed publisher
    ..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...
  5. Neale B, Kou Y, Liu L, Ma ayan A, Samocha K, Sabo A, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012;485:242-5 pubmed publisher
    ..Despite the challenge posed by such models, 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.
  6. Ishihara K, Oshimura M, Nakao M. CTCF-dependent chromatin insulator is linked to epigenetic remodeling. Mol Cell. 2006;23:733-42 pubmed
    ..Here, we show that the SNF2-like chromodomain helicase protein CHD8 interacts with the insulator binding protein CTCF...
  7. O Roak B, Vives L, Girirajan S, Karakoc E, Krumm N, Coe B, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012;485:246-50 pubmed publisher
    ..In proband exomes, recurrent protein-altering mutations were observed in two genes: CHD8 and NTNG1...
  8. O Roak B, Vives L, Fu W, Egertson J, Stanaway I, Phelps I, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012;338:1619-22 pubmed publisher
    ..We estimate that recurrent disruptive mutations in six genes-CHD8, DYRK1A, GRIN2B, TBR1, PTEN, and TBL1XR1-may contribute to 1% of sporadic ASDs...
  9. Sapienza M, Abate F, Melle F, Orecchioni S, Fuligni F, Etebari M, et al. Blastic plasmacytoid dendritic cell neoplasm: genomics mark epigenetic dysregulation as a primary therapeutic target. Haematologica. 2019;104:729-737 pubmed publisher
    ..In particular, twenty-five epigenetic modifiers were found mutated (e.g. ASXL1, TET2, SUZ12, ARID1A, PHF2, CHD8); ASXL1 was the most frequently affected (28.6% of cases)...
  10. Wang J, Liu J, Gao Y, Wang K, Jiang K. Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children. BMC Pediatr. 2018;18:338 pubmed publisher
    ..evidence has shown that de novo loss-of-function mutations in the chromodomain helicase DNA-binding protein 8 (CHD8) gene are associated with an ASD sub-group...
  11. Grande B, Gerhard D, Jiang A, Griner N, Abramson J, Alexander T, et al. Genome-wide discovery of somatic coding and non-coding mutations in pediatric endemic and sporadic Burkitt lymphoma. Blood. 2019;: pubmed publisher
    ..In addition to identifying novel candidate BL genes such as SIN3A, USP7, and CHD8, we demonstrate that EBV-positive tumors had significantly fewer driver mutations, especially among genes with ..
  12. Deneault E, White S, Rodrigues D, Ross P, Faheem M, Zaslavsky K, et al. Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. Stem Cell Reports. 2018;11:1211-1225 pubmed publisher
    ..iPSC) knockout resource for functional studies of ten ASD-relevant genes (AFF2/FMR2, ANOS1, ASTN2, ATRX, CACNA1C, CHD8, DLGAP2, KCNQ2, SCN2A, TENM1)...
  13. Wu J, Yu P, Jin X, Xu X, Li J, Li Z, et al. Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing. J Genet Genomics. 2018;45:527-538 pubmed publisher
    ..01) from 4832 genes harboring various rare deleterious variants, including CHD8 and NRXN2, implying that the disorders may be in favor to multiple-hit...
  14. Ayhan F, Konopka G. Regulatory genes and pathways disrupted in autism spectrum disorders. Prog Neuropsychopharmacol Biol Psychiatry. 2019;89:57-64 pubmed publisher
    ..For each category, we focus on one gene (CHD8, FOXP1, and RBFOX1) that is significantly linked to ASD and functionally characterized in recent years...
  15. Jung H, Park H, Choi Y, Kang H, Lee E, Kweon H, et al. Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice. Nat Neurosci. 2018;21:1218-1228 pubmed publisher
    ..We characterized sexually dimorphic changes in mice carrying a heterozygous mutation in Chd8 (Chd8+/N2373K) that was first identified in human CHD8 (Asn2373LysfsX2), a strong ASD-risk gene that ..
  16. Fang M, Ou J, Hutchinson L, Green M. The BRAF oncoprotein functions through the transcriptional repressor MAFG to mediate the CpG Island Methylator phenotype. Mol Cell. 2014;55:904-915 pubmed publisher
    ..and recruits a corepressor complex that includes its heterodimeric partner BACH1, the chromatin remodeling factor CHD8, and the DNA methyltransferase DNMT3B, resulting in hypermethylation and transcriptional silencing...
  17. Marie C, Clavairoly A, Frah M, Hmidan H, Yan J, Zhao C, et al. Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8. Proc Natl Acad Sci U S A. 2018;115:E8246-E8255 pubmed publisher
    ..are associated with neurodevelopmental defects, with CHD7 haploinsuficiency being the cause of CHARGE syndrome and CHD8 being one of the strongest autism spectrum disorder (ASD) high-risk-associated genes...
  18. Drabova J, Seemanova E, Hancarova M, Pourova R, Horacek M, Jancuskova T, et al. Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8. Am J Med Genet A. 2015;167A:837-41 pubmed publisher
    ..Two of the protein-coding genes, SUPT16H and CHD8, have been proposed as candidate genes for a new microdeletion syndrome...
  19. Dingar D, Kalkat M, Chan P, Srikumar T, Bailey S, Tu W, et al. BioID identifies novel c-MYC interacting partners in cultured cells and xenograft tumors. J Proteomics. 2015;118:95-111 pubmed publisher
    ..and elongation factors, and transcriptional co-regulators such as the DNA helicase protein chromodomain 8 (CHD8)...
  20. Fueyo R, Iacobucci S, PAPPA S, Estarás C, Lois S, Vicioso Mantis M, et al. Lineage specific transcription factors and epigenetic regulators mediate TGF?-dependent enhancer activation. Nucleic Acids Res. 2018;46:3351-3365 pubmed publisher
    ..Once located at the enhancers, SMAD3 recruits the histone demethylase JMJD3 and the remodeling factor CHD8, creating the appropriate chromatin landscape to allow enhancer transcription and posterior gene activation...
  21. Park J, Lee C, Chang M, Kim K, Choi S, Lee H, et al. Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma. Transl Oncol. 2018;11:962-970 pubmed publisher
    ..The WES revealed several cancer gene alterations. In Case 1, genetic alterations of CHD8, CRISPLD1, EPB41L4A, GNA11, NOTCH3, PBRM1, PTPRU, RGS12, SETBP1, SMARCA4, STMN1, and ZNRF3 were identified...
  22. Kita Y, Katayama Y, Shiraishi T, Oka T, Sato T, Suyama M, et al. The Autism-Related Protein CHD8 Cooperates with C/EBP? to Regulate Adipogenesis. Cell Rep. 2018;23:1988-2000 pubmed publisher
    The gene encoding the chromatin remodeler CHD8 is the most frequently mutated gene in individuals with autism spectrum disorder (ASD)...
  23. Zhao C, Dong C, Frah M, Deng Y, Marie C, Zhang F, et al. Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair. Dev Cell. 2018;45:753-768.e8 pubmed publisher
    Disruptive mutations in chromatin remodeler CHD8 cause autism spectrum disorders, exhibiting widespread white matter abnormalities; however, the underlying mechanisms remain elusive...
  24. Earl R, Turner T, Mefford H, Hudac C, Gerdts J, Eichler E, et al. Clinical phenotype of ASD-associated DYRK1A haploinsufficiency. Mol Autism. 2017;8:54 pubmed publisher
    ..cases matched on age and gender (n = 10) and to cases with an ASD-associated disruptive mutation to CHD8 (n = 12)...
  25. Platt R, Zhou Y, Slaymaker I, Shetty A, Weisbach N, Kim J, et al. Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits. Cell Rep. 2017;19:335-350 pubmed publisher
    ..We generated germline mutant mice with loss-of-function mutations in Chd8, a de novo mutation strongly associated with ASD, and demonstrate that these mice display hallmark ASD behaviors, ..
  26. Pongor L, Kormos M, Hatzis C, Pusztai L, Szabó A, Győrffy B. A genome-wide approach to link genotype to clinical outcome by utilizing next generation sequencing and gene chip data of 6,697 breast cancer patients. Genome Med. 2015;7:104 pubmed publisher
    ..MTUS2, and PIK3CA, and the top tumor suppressor genes included PHEX, TP53, GGA3, RGS22, PXDNL, ARFGEF1, BRCA2, CHD8, GCC2, and ARMC4...
  27. Wang P, Lin M, Pedrosa E, Hrabovsky A, Zhang Z, Guo W, et al. CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment. Mol Autism. 2015;6:55 pubmed publisher
    Disruptive mutation in the CHD8 gene is one of the top genetic risk factors in autism spectrum disorders (ASDs)...
  28. Maussion G, Diallo A, Gigek C, Chen E, Crapper L, Théroux J, et al. Investigation of genes important in neurodevelopment disorders in adult human brain. Hum Genet. 2015;134:1037-53 pubmed publisher
    ..expression analyses using BrainSpan data for NDD-associated genes SATB2, EHMT1, FMR1, MECP2, MBD5, CTNND2, RAI1, CHD8, GRIN2A, GRIN2B, TCF4, SCN2A, and DYRK1A and find high expression of these genes in adult brain, at least ..
  29. Christenson E, Serre M. Integrating remote sensing with nutrient management plans to calculate nitrogen parameters for swine CAFOs at the sprayfield and sub-watershed scales. Sci Total Environ. 2017;580:865-872 pubmed publisher
    ..Objectives of this research are first to characterize Duplin County sprayfields and PANbal by creating the first, open-source sprayfield spatial database created for swine ..
  30. Varghese M, Keshav N, Jacot Descombes S, Warda T, Wicinski B, Dickstein D, et al. Autism spectrum disorder: neuropathology and animal models. Acta Neuropathol. 2017;134:537-566 pubmed publisher
    ..well-studied monogenic ASD genes (NLGN3, NLGN4, NRXN1, CNTNAP2, SHANK3, MECP2, FMR1, TSC1/2), emerging risk genes (CHD8, SCN2A, SYNGAP1, ARID1B, GRIN2B, DSCAM, TBR1), and copy number variants (15q11-q13 deletion, 15q13...
  31. Fang M, Hutchinson L, Deng A, Green M. Common BRAF(V600E)-directed pathway mediates widespread epigenetic silencing in colorectal cancer and melanoma. Proc Natl Acad Sci U S A. 2016;113:1250-5 pubmed publisher
    ..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...
  32. Mao Q, Chin R, Xie W, Deng Y, Zhang W, Xu H, et al. Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid. Clin Chem. 2018;64:715-725 pubmed publisher
    ..Two fetal genomes were found to harbor potentially detrimental variants in chromodomain helicase DNA binding protein 8 (CHD8) and LDL receptor-related protein 1 (LRP1), variations of which have been ..
  33. Wang P, Zhao D, Lachman H, Zheng D. Enriched expression of genes associated with autism spectrum disorders in human inhibitory neurons. Transl Psychiatry. 2018;8:13 pubmed publisher
    ..Furthermore, the downstream targets of several ASD candidates, such as CHD8, EHMT1 and SATB2, also displayed enriched expression in inhibitory neurons...
  34. Katayama Y, Nishiyama M, Shoji H, Ohkawa Y, Kawamura A, Sato T, et al. CHD8 haploinsufficiency results in autistic-like phenotypes in mice. Nature. 2016;537:675-679 pubmed publisher
    ..analysis has recently identified many de novo mutations in a variety of genes in individuals with ASD, with CHD8, a gene encoding a chromatin remodeller, being most frequently affected...
  35. de Dieuleveult M, Yen K, Hmitou I, Depaux A, Boussouar F, Bou Dargham D, et al. Genome-wide nucleosome specificity and function of chromatin remodellers in ES cells. Nature. 2016;530:113-6 pubmed publisher
    ..genome-wide remodeller-nucleosome interaction profiles for the chromatin remodellers Chd1, Chd2, Chd4, Chd6, Chd8, Chd9, Brg1 and Ep400 in mouse embryonic stem (ES) cells...
  36. Roy S, LaFramboise W, Liu T, Cao D, Luvison A, Miller C, et al. Loss of Chromatin-Remodeling Proteins and/or CDKN2A Associates With Metastasis of Pancreatic Neuroendocrine Tumors and Reduced Patient Survival Times. Gastroenterology. 2018;154:2060-2063.e8 pubmed publisher
    ..set domain containing 2 (SETD2) (n = 4), AT-rich interaction domain 1A (ARID1A) (n = 2), chromodomain helicase DNA binding protein 8 (CHD8) (n = 2), and DNA methyl transferase 1 (DNMT1) (n = 2)...
  37. Sanders S. First glimpses of the neurobiology of autism spectrum disorder. Curr Opin Genet Dev. 2015;33:80-92 pubmed publisher
    ..Both gene sets are also regulatory targets of the ASD genes CHD8 and FMRP...
  38. Tatton Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, et al. Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. Am J Hum Genet. 2017;100:725-736 pubmed publisher
    ..Mutations in six epigenetic regulation genes-NSD1, EZH2, DNMT3A, CHD8, HIST1H1E, and EED-accounted for 44% of individuals (311/710)...
  39. Durak O, Gao F, Kaeser Woo Y, Rueda R, Martorell A, Nott A, et al. Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling. Nat Neurosci. 2016;19:1477-1488 pubmed publisher
    De novo mutations in CHD8 are strongly associated with autism spectrum disorder, but the basic biology of CHD8 remains poorly understood...
  40. Pramparo T, Lombardo M, Campbell K, Barnes C, Marinero S, Solso S, et al. Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers. Mol Syst Biol. 2015;11:841 pubmed publisher
    ..Finally, analyses of the CHD8 subnetwork and altered transcript levels from an independent study of CHD8 suppression further confirmed the ..
  41. Gompers A, Su Feher L, Ellegood J, Copping N, Riyadh M, Stradleigh T, et al. Germline Chd8 haploinsufficiency alters brain development in mouse. Nat Neurosci. 2017;20:1062-1073 pubmed publisher
    The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. We examined the impact of germline heterozygous frameshift Chd8 mutation on neurodevelopment in mice...
  42. Shingleton J, Hemann M. The Chromatin Regulator CHD8 Is a Context-Dependent Mediator of Cell Survival in Murine Hematopoietic Malignancies. PLoS ONE. 2015;10:e0143275 pubmed publisher
    ..We identified the chromatin-modifying protein CHD8 as necessary for cell survival in a mouse model of BCR-Abl+ B-cell acute lymphoblastic leukemia...
  43. Smyk M, Poluha A, Jaszczuk I, Bartnik M, Bernaciak J, Nowakowska B. Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay. Am J Med Genet A. 2016;170A:1325-9 pubmed publisher
    ..Submicroscopic 14q11.2 deletions involving the CHD8 and SUPT16H genes have been reported in patients with developmental delay (DD)/intellectual disability (ID) or ..
  44. Prontera P, Ottaviani V, Toccaceli D, Rogaia D, Ardisia C, Romani R, et al. Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. Am J Med Genet A. 2014;164A:3137-41 pubmed publisher
    ..2 chromosomal region, involving the SUPT16H, CHD8, and RAB2B genes...
  45. Masuda T, Wang X, Maeda M, Canver M, Sher F, Funnell A, et al. Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin. Science. 2016;351:285-9 pubmed publisher
    ..Our study may provide additional opportunities for therapeutic targeting in the treatment of hemoglobinopathies. ..
  46. Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, et al. CHARGE and Kabuki syndromes: a phenotypic and molecular link. Hum Mol Genet. 2014;23:4396-405 pubmed publisher
  47. Li X, Wang S, Li Y, Deng C, Steiner L, Xiao H, et al. Chromatin boundaries require functional collaboration between the hSET1 and NURF complexes. Blood. 2011;118:1386-94 pubmed publisher
    ..Therefore, our data reveal a synergistic role of hSET1 and NURF in regulating the USF-bound barrier insulator to prevent erythroid genes from encroachment of heterochromatin. ..
  48. Kobayashi M, Hanai R. M phase-specific association of human topoisomerase IIIbeta with chromosomes. Biochem Biophys Res Commun. 2001;287:282-7 pubmed
    ..The GFP fusion of the isoform 2 was found in the cytoplasm, indicating the nuclear localization signal sequence in the isoform 1 is in the C-terminal part that is different between the two isoforms. ..
  49. Li J, Li H, Makunin I, Thompson B, Tao K, Young E, et al. Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families. Breast Cancer Res Treat. 2017;166:937-949 pubmed publisher
    ..Only two genes, CHD8 and USH2A showed any evidence of an increased risk of breast cancer (RR = 2.40 (95% CI 1.0-7.32) and 2...
  50. Shibutani M, Horii T, Shoji H, Morita S, Kimura M, Terawaki N, et al. Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. Int J Mol Sci. 2017;18: pubmed publisher
    ..Like chromodomain helicase DNA binding protein 8 (CHD8), the most frequently mutated gene in individuals with ASD, the candidate gene AT-rich ..
  51. Tahara T, Yamamoto E, Madireddi P, Suzuki H, Maruyama R, Chung W, et al. Colorectal carcinomas with CpG island methylator phenotype 1 frequently contain mutations in chromatin regulators. Gastroenterology. 2014;146:530-38.e5 pubmed publisher
    ..genes that regulate chromatin were mutated in CIMP1 CRCs; the highest rates of mutation were observed in CHD7 and CHD8, which encode members of the chromodomain helicase/adenosine triphosphate-dependent chromatin remodeling family...
  52. Rifaioglu A, Doğan T, Sarac O, Ersahin T, Saidi R, Atalay M, et al. Large-scale Automated Function Prediction of Protein Sequences and an Experimental Case Study Validation on PTEN Transcript Variants. Proteins. 2017;: pubmed publisher
    ..UniGOPred annotations were also validated by case studies on PTEN protein variants experimentally and on CHD8 protein variants with literature...
  53. Larsen E, Menashe I, Ziats M, Pereanu W, Packer A, Banerjee Basu S. A systematic variant annotation approach for ranking genes associated with autism spectrum disorders. Mol Autism. 2016;7:44 pubmed publisher
    ..There was a wide variation in scores; SHANK3, CHD8, and ADNP had distinctly higher scores than all other genes in the dataset...
  54. Wilkinson B, Grepo N, Thompson B, Kim J, Wang K, Evgrafov O, et al. The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes. Transl Psychiatry. 2015;5:e568 pubmed publisher
    Chromodomain helicase DNA-binding protein 8 (CHD8) was identified as a leading autism spectrum disorder (ASD) candidate gene by whole-exome sequencing and subsequent targeted-sequencing studies...
  55. Merner N, Forgeot D Arc B, Bell S, Maussion G, Peng H, Gauthier J, et al. A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. Am J Med Genet A. 2016;170A:1225-35 pubmed publisher
    Mutations in chromodomain helicase DNA-binding domain 8 (CHD8) have been identified in independent genotyping studies of autism spectrum disorder...
  56. Kunkel G, Tracy J, Jalufka F, Lekven A. CHD8short, a naturally-occurring truncated form of a chromatin remodeler lacking the helicase domain, is a potent transcriptional coregulator. Gene. 2018;641:303-309 pubmed publisher
    ..variant mRNA of CHD8 was identified years ago in mammals that encode a truncated form of the protein, called Duplin, that lacks the helicase domain and everything else in the carboxyl direction...
  57. Wang T, Guo H, Xiong B, Stessman H, Wu H, Coe B, et al. De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun. 2016;7:13316 pubmed publisher
    ..The most prevalent gene for recurrent DN mutations is SCN2A (1.1% of patients) followed by CHD8, DSCAM, MECP2, POGZ, WDFY3 and ASH1L...
  58. Damaschke N, Yang B, Blute M, Lin C, Huang W, Jarrard D. Frequent disruption of chromodomain helicase DNA-binding protein 8 (CHD8) and functionally associated chromatin regulators in prostate cancer. Neoplasia. 2014;16:1018-27 pubmed publisher
    ..The chromatin regulator CTCF, its cofactor CHD8, and antagonistic paralogue BORIS have wide-ranging effects on gene regulation...
  59. Stolerman E, Smith B, Chaubey A, Jones J. CHD8 intragenic deletion associated with autism spectrum disorder. Eur J Med Genet. 2016;59:189-94 pubmed publisher
    ..research has shown that de novo loss-of-function mutations in the chromodomain helicase DNA-binding protein 8 (CHD8) gene are associated with an increased risk of ASD...
  60. Barnard R, Pomaville M, O Roak B. Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology. Front Neurosci. 2015;9:477 pubmed publisher
    ..animal model, co-expression network, and functional genomics studies relating to the high confidence ASD risk gene, CHD8. CHD8, a chromatin remodeling factor, may serve as a "master regulator" of a common ASD etiology...
  61. Sawada G, Ueo H, Matsumura T, Uchi R, Ishibashi M, Mima K, et al. CHD8 is an independent prognostic indicator that regulates Wnt/?-catenin signaling and the cell cycle in gastric cancer. Oncol Rep. 2013;30:1137-42 pubmed publisher
    ..Previous studies suggest that CHD8 may negatively regulate various genes and signaling pathways, such as the Wnt/??catenin pathway...
  62. Epplen C, Epplen J. Expression of (cac)n/(gtg)n simple repetitive sequences in mRNA of human lymphocytes. Hum Genet. 1994;93:35-41 pubmed
    ..Longer stretches of perfect simple (cac)n/(gtg)n repeats can rarely be recovered, even from the hnRNA of human lymphocytes. ..
  63. Li J, Wang L, Guo H, Shi L, Zhang K, Tang M, et al. Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Mol Psychiatry. 2017;22:1282-1290 pubmed publisher
    ..ASD-risk genes in 536 Chinese ASD probands and detected 22 damaging de novo mutations (DNMs) in 20 genes, including CHD8 and SCN2A, with recurrent events...
  64. Manning B, Yusufzai T. The ATP-dependent chromatin remodeling enzymes CHD6, CHD7, and CHD8 exhibit distinct nucleosome binding and remodeling activities. J Biol Chem. 2017;292:11927-11936 pubmed publisher
    ..CHD) family of ATP-dependent chromatin remodeling enzymes, comprising CHD6, CHD7, CHD8, and CHD9, has well-documented roles in transcription regulation, impacting both organism development and disease ..
  65. Cotney J, Muhle R, Sanders S, Liu L, Willsey A, Niu W, et al. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat Commun. 2015;6:6404 pubmed publisher
    ..To elucidate such networks, we identify genes targeted by CHD8, a chromodomain helicase strongly associated with ASD, in human midfetal brain, human neural stem cells (hNSCs) and ..
  66. Kobayashi M, Kishida S, Fukui A, Michiue T, Miyamoto Y, Okamoto T, et al. Nuclear localization of Duplin, a beta-catenin-binding protein, is essential for its inhibitory activity on the Wnt signaling pathway. J Biol Chem. 2002;277:5816-22 pubmed
    b>Duplin binds to beta-catenin and inhibits the Wnt signaling pathway, thereby leading to repression of the beta-catenin-mediated transactivation and Xenopus axis formation...
  67. Shen C, Ipsaro J, Shi J, Milazzo J, Wang E, Roe J, et al. NSD3-Short Is an Adaptor Protein that Couples BRD4 to the CHD8 Chromatin Remodeler. Mol Cell. 2015;60:847-59 pubmed publisher
    ..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...
  68. Nishiyama M, Nakayama K, Tsunematsu R, Tsukiyama T, Kikuchi A, Nakayama K. Early embryonic death in mice lacking the beta-catenin-binding protein Duplin. Mol Cell Biol. 2004;24:8386-94 pubmed
    The Wnt signaling pathway plays a pivotal role in vertebrate early development and morphogenesis. Duplin (axis duplication inhibitor) interacts with beta-catenin and prevents its binding to Tcf, thereby inhibiting downstream Wnt signaling...
  69. Ceballos Chávez M, Subtil Rodríguez A, Giannopoulou E, Soronellas D, Vázquez Chávez E, Vicent G, et al. The chromatin Remodeler CHD8 is required for activation of progesterone receptor-dependent enhancers. PLoS Genet. 2015;11:e1005174 pubmed publisher
    ..Here, we show by ChIP-seq experiments that the chromatin remodeler CHD8 mostly binds promoters under proliferation conditions...
  70. Li H, Sekine M, Tung N, Avraham H. Wild-type BRCA1, but not mutated BRCA1, regulates the expression of the nuclear form of beta-catenin. Mol Cancer Res. 2010;8:407-20 pubmed publisher
    ..This study provides evidence of a novel interaction between BRCA1 and beta-catenin, and that loss of BRCA1 leads to impaired expression of the nuclear form of beta-catenin, which may contribute to the pathogenesis of breast cancer. ..
  71. Popp B, Ekici A, Thiel C, Hoyer J, Wiesener A, Kraus C, et al. Exome Pool-Seq in neurodevelopmental disorders. Eur J Hum Genet. 2017;25:1364-1376 pubmed publisher
    ..established NDD genes (based on SysID database, status November 2016) (ACTB, AHDC1, ANKRD11, ATP6V1B2, ATRX, CASK, CHD8, GNAS, IFIH1, KCNQ2, KMT2A, KRAS, MAOA, MED12, MED13L, RIT1, SETD5, SIN3A, TCF4, TRAPPC11, TUBA1A, WAC, ZBTB18, ..