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Twist transcription factor: Wikis


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Twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)
External IDs OMIM601622 MGI98872 HomoloGene402 GeneCards: TWIST1 Gene
RNA expression pattern
PBB GE TWIST1 213943 at tn.png
More reference expression data
Species Human Mouse
Entrez 7291 22160
Ensembl ENSG00000122691 ENSMUSG00000035799
UniProt Q15672 P26687
RefSeq (mRNA) NM_000474 NM_011658
RefSeq (protein) NP_000465 NP_035788
Location (UCSC) Chr 7:
19.12 - 19.12 Mb
Chr 12:
34.54 - 34.55 Mb
PubMed search [1] [2]

Twist transcription factor is a basic-helix-loop-helix transcription factor associated with Saethre-Chotzen syndrome.

Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome.[1]



Twist transcription factor has been shown to interact with EP300,[2] TCF3[3] and PCAF.[2]


  1. ^ "Entrez Gene: TWIST1 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)".  
  2. ^ a b Hamamori, Y; Sartorelli V, Ogryzko V, Puri P L, Wu H Y, Wang J Y, Nakatani Y, Kedes L (Feb. 1999). "Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A". Cell (UNITED STATES) 96 (3): 405–13. ISSN 0092-8674. PMID 10025406.  
  3. ^ El Ghouzzi, V; Legeai-Mallet L, Aresta S, Benoist C, Munnich A, de Gunzburg J, Bonaventure J (Mar. 2000). "Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location". Hum. Mol. Genet. (ENGLAND) 9 (5): 813–9. ISSN 0964-6906. PMID 10749989.  

Further reading

  • Seto ML, Lee SJ, Sze RW, Cunningham ML (2002). "Another TWIST on Baller-Gerold syndrome.". Am. J. Med. Genet. 104 (4): 323–30. doi:10.1002/ajmg.10065. PMID 11754069.  
  • Brueton LA, van Herwerden L, Chotai KA, Winter RM (1992). "The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.". J. Med. Genet. 29 (10): 681–5. doi:10.1136/jmg.29.10.681. PMID 1433226.  
  • Bianchi DW, Cirillo-Silengo M, Luzzatti L, Greenstein RM (1982). "Interstitial deletion of the short arm of chromosome 7 without craniosynostosis.". Clin. Genet. 19 (6): 456–61. PMID 7296937.  
  • Rose CS, King AA, Summers D, et al. (1995). "Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2.". Hum. Mol. Genet. 3 (8): 1405–8. doi:10.1093/hmg/3.8.1405. PMID 7987323.  
  • Maw M, Kar B, Biswas J, et al. (1997). "Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p.". Hum. Mol. Genet. 5 (12): 2049–54. doi:10.1093/hmg/5.12.2049. PMID 8968762.  
  • Howard TD, Paznekas WA, Green ED, et al. (1997). "Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.". Nat. Genet. 15 (1): 36–41. doi:10.1038/ng0197-36. PMID 8988166.  
  • el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, et al. (1997). "Mutations of the TWIST gene in the Saethre-Chotzen syndrome.". Nat. Genet. 15 (1): 42–6. doi:10.1038/ng0197-42. PMID 8988167.  
  • Bourgeois P, Stoetzel C, Bolcato-Bellemin AL, et al. (1997). "The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart.". Mamm. Genome 7 (12): 915–7. doi:10.1007/s003359900269. PMID 8995765.  
  • Wang SM, Coljee VW, Pignolo RJ, et al. (1997). "Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues.". Gene 187 (1): 83–92. doi:10.1016/S0378-1119(96)00727-5. PMID 9073070.  
  • Krebs I, Weis I, Hudler M, et al. (1997). "Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.". Hum. Mol. Genet. 6 (7): 1079–86. doi:10.1093/hmg/6.7.1079. PMID 9215678.  
  • Rose CS, Patel P, Reardon W, et al. (1997). "The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.". Hum. Mol. Genet. 6 (8): 1369–73. doi:10.1093/hmg/6.8.1369. PMID 9259286.  
  • Hamamori Y, Wu HY, Sartorelli V, Kedes L (1997). "The basic domain of myogenic basic helix-loop-helix (bHLH) proteins is the novel target for direct inhibition by another bHLH protein, Twist.". Mol. Cell. Biol. 17 (11): 6563–73. PMID 9343420.  
  • Gripp KW, Stolle CA, Celle L, et al. (1999). "TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.". Am. J. Med. Genet. 82 (2): 170–6. doi:10.1002/(SICI)1096-8628(19990115)82:2<170::AID-AJMG14>3.0.CO;2-X. PMID 9934984.  
  • Hamamori Y, Sartorelli V, Ogryzko V, et al. (1999). "Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A.". Cell 96 (3): 405–13. doi:10.1016/S0092-8674(00)80553-X. PMID 10025406.  
  • Kunz J, Hudler M, Fritz B (1999). "Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.". J. Med. Genet. 36 (8): 650–2. PMID 10465122.  
  • Maestro R, Dei Tos AP, Hamamori Y, et al. (1999). "Twist is a potential oncogene that inhibits apoptosis.". Genes Dev. 13 (17): 2207–17. doi:10.1101/gad.13.17.2207. PMID 10485844.  
  • El Ghouzzi V, Legeai-Mallet L, Aresta S, et al. (2000). "Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.". Hum. Mol. Genet. 9 (5): 813–9. doi:10.1093/hmg/9.5.813. PMID 10749989.  
  • Lee MS, Lowe G, Flanagan S, et al. (2000). "Human Dermo-1 has attributes similar to twist in early bone development.". Bone 27 (5): 591–602. doi:10.1016/S8756-3282(00)00380-X. PMID 11062344.  
  • Dollfus H, Kumaramanickavel G, Biswas P, et al. (2001). "Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22.". J. Med. Genet. 38 (7): 470–2. doi:10.1136/jmg.38.7.470. PMID 11474656.  
  • Elanko N, Sibbring JS, Metcalfe KA, et al. (2002). "A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.". Hum. Mutat. 18 (6): 535–41. doi:10.1002/humu.1230. PMID 11748846.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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