Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor [5] that in humans is encoded by the CHD7 gene.[6][7]
CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet.[8] Mutations in CHD7 are associated with CHARGE syndrome.[9] This protein belongs to a larger group of ATP-dependent chromatin remodeling complexes, the CHD subfamily.
^ abcGRCh38: Ensembl release 89: ENSG00000171316 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000041235 – 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.
^Bouazoune, K; Kingston, RE (20 November 2012). "Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders". Proceedings of the National Academy of Sciences of the United States of America. 109 (47): 19238–43. Bibcode:2012PNAS..10919238B. doi:10.1073/pnas.1213825109. PMC 3511097. PMID 23134727.
^Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (Feb 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
^"Entrez Gene: chromodomain helicase DNA binding protein 7".
^Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, Chang CP, Zhao Y, Swigut T, Wysocka J (Feb 2010). "CHD7 cooperates with PBAF to control multipotent neural crest formation". Nature. 463 (7283): 958–62. Bibcode:2010Natur.463..958B. doi:10.1038/nature08733. PMC 2890258. PMID 20130577.
^Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG (Sep 2004). "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome". Nature Genetics. 36 (9): 955–7. doi:10.1038/ng1407. PMID 15300250.
by the CHD7 gene. CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet. Mutations in CHD7 are associated...
CHARGE syndrome, but the name remains. About two thirds of cases are due to a CHD7 mutation. CHARGE syndrome occurs only in 0.1–1.2 per 10,000 live births;...
chromosome 8). Further genetic testing found 23 different polymorphisms in the CHD7 gene of these same patients, all of which were located inside a 116-kb genomic...
frequently referred to as "CHARGE association". When the major causative gene (CHD7) for the condition was discovered, the name was changed. The consensus underlying...
2014 superyacht Kismet, a Drosophila Trithorax-group protein homologous to CHD7 Akismet, a server-based spam filter Ashima, Semitic goddess of fate Destiny...
nucleosomes. Studies of Sanosaka et al 2022, says that Chromatin remodeler CHD7 regulate cell type-specific gene expression in human neural crest cells....
development of scoliosis have not been conclusively identified. At least one gene, CHD7, has been associated with the idiopathic form of scoliosis. Several candidate...
novel series, part of the Honorverse fictional milieu created by David Weber CHD7, also known as HH5, the chromodomain-helicase-DNA-binding protein 7 Search...
has been linked recently to haploinsufficiency of CHD7, which encodes the CHD family ATPase CHD7. Chromatin architectural remodeling is implicated in...
Ravenswaaij-Arts, C. M.; Hoefsloot, L. H. (2012). "Mutation update on the CHD7 gene involved in CHARGE syndrome". Human Mutation. 33 (8): 1149–60. doi:10...
Cockayne syndrome type B (CSB), cerebro-oculo-facio-skeletal syndrome 1 (COFS1) CHD7 AD CHARGE syndrome HDAC6 XLD Chondrodysplasia with platyspondyly, distinctive...
protein. TBX1 is thought to operate on the same developmental pathway as CHD7 which can be mutated in CHARGE syndrome. Most cases of 22q11.2 deletion syndrome...
CHARGE and died. Researchers also demonstrated a link between p53 and the CHD7 gene, which often displays mutations in cases of CHARGE. Attardi uses mice...
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