CHD7

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CHD7
PDB 2ckc EBI.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CHD7, CRG, HH5, IS3, KAL5, chromodomain helicase DNA binding protein 7
External IDs OMIM: 608892 MGI: 2444748 HomoloGene: 19067 GeneCards: 55636
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017780
NM_001316690

NM_001033395
NM_001081417
NM_001277149

RefSeq (protein)

NP_060250.2
NP_001303619.1

NP_001264078.1

Location (UCSC) Chr 8: 60.68 – 60.87 Mb Chr 4: 8.69 – 8.87 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3][4]

CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet.[5] Mutations in CHD7 are associated with CHARGE syndrome.[6]

Model organisms[edit]

Model organisms have been used in the study of CHD7 function. A conditional knockout mouse line, called Chd7tm2a(EUCOMM)Wtsi[14][15] 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.[16][17][18]

Bergmeister's papilla, histological section.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[12][19] Twenty four tests were carried out on mutant mice and five significant abnormalities were observed.[12] 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.[12]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ "Entrez Gene: chromodomain helicase DNA binding protein 7". 
  5. ^ 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. doi:10.1038/nature08733. PMC 2890258free to read. PMID 20130577. 
  6. ^ 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. 
  7. ^ "Neurological assessment data for Chd7". Wellcome Trust Sanger Institute. 
  8. ^ "Radiography data for Chd7". Wellcome Trust Sanger Institute. 
  9. ^ "Eye morphology data for Chd7". Wellcome Trust Sanger Institute. 
  10. ^ "Salmonella infection data for Chd7". Wellcome Trust Sanger Institute. 
  11. ^ "Citrobacter infection data for Chd7". Wellcome Trust Sanger Institute. 
  12. ^ 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. 
  13. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  14. ^ "International Knockout Mouse Consortium". 
  15. ^ "Mouse Genome Informatics". 
  16. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410free to read. PMID 21677750. 
  17. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  18. ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  19. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837free to read. PMID 21722353. 

Further reading[edit]

External links[edit]