CHD4
Chromodomain-helicase-DNA-binding protein 4 is an enzyme that in humans is encoded by the CHD4 gene.[5][6][7] CHD4 is the core nucleosome-remodelling component of the Nucleosome Remodelling and Deacetylase (NuRD) complex.[8][9][10]
Function
The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein.[7]
Interactions
CHD4 has been shown to
interact with HDAC1,[11][12][13] Histone deacetylase 2,[13][14][15] MTA2,[11] SATB1[16] and Ataxia telangiectasia and Rad3 related.[15]
Clinical
Mutations in this gene have been associated with a condition known as Sifrim-Hitz-Weiss syndrome.[17] This condition is characterized by
- Brain anomalies
- Macrocephaly
- Deafness
- Ophthalmic abnormalities
- Dysmorphic features
- Congenital heart defects
- Hypogonadism in males
- Skeletal and limb anomalies
- Global developmental delay
- Mild to moderate intellectual disability
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000111642 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000063870 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 7575689.
- PMID 8843877.
- ^ a b "Entrez Gene: CHD4 chromodomain helicase DNA binding protein 4".
- S2CID 4355885.
- PMID 9885572.
- PMID 9790534.
- ^ PMID 12920132.
- PMID 10220385.
- ^ S2CID 4355885.
- PMID 12493763.
- ^ PMID 10545197.
- S2CID 25822700.
- ^ Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Wallen S, Solveig H, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA11,12, Kenney A11, Hove H13, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker M, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM34, Muenke M5, Wade PA, Lachlan K (2019) The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genet Med
External links
- Human CHD4 genome location and CHD4 gene details page in the UCSC Genome Browser.
Further reading
- Denslow SA, Wade PA (August 2007). "The human Mi-2/NuRD complex and gene regulation". Oncogene. 26 (37): 5433–5438. S2CID 26445975.
- Ge Q, Nilasena DS, O'Brien CA, Frank MB, Targoff IN (October 1995). "Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen". The Journal of Clinical Investigation. 96 (4): 1730–1737. PMID 7560064.
- Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS (October 1997). "Characterization of the CHD family of proteins". Proceedings of the National Academy of Sciences of the United States of America. 94 (21): 11472–11477. PMID 9326634.
- Zhang Y, LeRoy G, Seelig HP, Lane WS, Reinberg D (October 1998). "The dermatomyositis-specific autoantigen Mi2 is a component of a complex containing histone deacetylase and nucleosome remodeling activities". Cell. 95 (2): 279–289. S2CID 18786866.
- Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL (October 1998). "Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex". Nature. 395 (6705): 917–921. S2CID 4355885.
- Zhang Y, Ng HH, Erdjument-Bromage H, Tempst P, Bird A, Reinberg D (August 1999). "Analysis of the NuRD subunits reveals a histone deacetylase core complex and a connection with DNA methylation". Genes & Development. 13 (15): 1924–1935. PMID 10444591.
- Schmidt DR, Schreiber SL (November 1999). "Molecular association between ATR and two components of the nucleosome remodeling and deacetylating complex, HDAC2 and CHD4". Biochemistry. 38 (44): 14711–14717. PMID 10545197.
- Humphrey GW, Wang Y, Russanova VR, Hirai T, Qin J, Nakatani Y, Howard BH (March 2001). "Stable histone deacetylase complexes distinguished by the presence of SANT domain proteins CoREST/kiaa0071 and Mta-L1". The Journal of Biological Chemistry. 276 (9): 6817–6824. PMID 11102443.
- Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, et al. (January 2002). "Directed proteomic analysis of the human nucleolus". Current Biology. 12 (1): 1–11. S2CID 14132033.
- Koipally J, Georgopoulos K (August 2002). "A molecular dissection of the repression circuitry of Ikaros". The Journal of Biological Chemistry. 277 (31): 27697–27705. PMID 12015313.
- Saito M, Ishikawa F (September 2002). "The mCpG-binding domain of human MBD3 does not bind to mCpG but interacts with NuRD/Mi2 components HDAC1 and MTA2". The Journal of Biological Chemistry. 277 (38): 35434–35439. PMID 12124384.
- Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R (February 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes". The Journal of Biological Chemistry. 278 (9): 7234–7239. PMID 12493763.
- Kwan AH, Gell DA, Verger A, Crossley M, Matthews JM, Mackay JP (July 2003). "Engineering a protein scaffold from a PHD finger". Structure. 11 (7): 803–813. PMID 12842043.
- Shimono Y, Murakami H, Kawai K, Wade PA, Shimokata K, Takahashi M (December 2003). "Mi-2 beta associates with BRG1 and RET finger protein at the distinct regions with transcriptional activating and repressing abilities". The Journal of Biological Chemistry. 278 (51): 51638–51645. PMID 14530259.
- Williams CJ, Naito T, Arco PG, Seavitt JR, Cashman SM, De Souza B, et al. (June 2004). "The chromatin remodeler Mi-2beta is required for CD4 expression and T cell development". Immunity. 20 (6): 719–733. PMID 15189737.
- Lehner B, Sanderson CM (July 2004). "A protein interaction framework for human mRNA degradation". Genome Research. 14 (7): 1315–1323. PMID 15231747.
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