CHD7

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Chromodomain helicase DNA binding protein 7
PDB 2ckc EBI.png
PDB rendering based on 2ckc.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CHD7 ; HH5; IS3; KAL5
External IDs OMIM608892 MGI2444748 HomoloGene19067 GeneCards: CHD7 Gene
EC number 3.6.4.12
Orthologs
Species Human Mouse
Entrez 55636 320790
Ensembl ENSG00000171316 ENSMUSG00000041235
UniProt Q9P2D1 A2AJK6
RefSeq (mRNA) NM_017780 NM_001033395
RefSeq (protein) NP_060250 NP_001074886
Location (UCSC) Chr 8:
61.59 – 61.78 Mb
Chr 4:
8.69 – 8.87 Mb
PubMed search [1] [2]

Chromodomain-helicase-DNA-binding protein 7 also known as ATP-dependent helicase CHD7 is an enzyme that in humans is encoded by the CHD7 gene.[1][2]

CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet.[3] Mutations in CHD7 are associated with CHARGE syndrome.[4]

Model organisms[edit]

Model organisms have been used in the study of CHD7 function. A conditional knockout mouse line, called Chd7tm2a(EUCOMM)Wtsi[12][13] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[14][15][16]

Bergmeister's papilla, histological section.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty four tests were carried out on mutant mice and five significant abnormalities were observed.[10] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice. Male heterozygotes displayed abnormal pelvic elevation in a modified SHIRPA test and have a high incidence of Bergmeister's papilla in both eyes. When the brains of heterozygous animals were studied, an absence of corpus callosum was observed.[10]

References[edit]

  1. ^ Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 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 Res. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198. 
  2. ^ "Entrez Gene: chromodomain helicase DNA binding protein 7". 
  3. ^ Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, Chang CP, Zhao Y, Swigut T, Wysocka J (February 2010). "CHD7 cooperates with PBAF to control multipotent neural crest formation". Nature 463 (7283): 958–62. doi:10.1038/nature08733. PMC 2890258. PMID 20130577. 
  4. ^ 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 (September 2004). "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome". Nat. Genet. 36 (9): 955–7. doi:10.1038/ng1407. PMID 15300250. 
  5. ^ "Neurological assessment data for Chd7". Wellcome Trust Sanger Institute. 
  6. ^ "Radiography data for Chd7". Wellcome Trust Sanger Institute. 
  7. ^ "Eye morphology data for Chd7". Wellcome Trust Sanger Institute. 
  8. ^ "Salmonella infection data for Chd7". Wellcome Trust Sanger Institute. 
  9. ^ "Citrobacter infection data for Chd7". Wellcome Trust Sanger Institute. 
  10. ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  11. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  12. ^ "International Knockout Mouse Consortium". 
  13. ^ "Mouse Genome Informatics". 
  14. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  15. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  16. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  17. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]

External links[edit]