Twist transcription factor

Twist homolog 1 (Drosophila)
Identifiers
Symbols	TWIST1; ACS3; BPES2; BPES3; CRS1; SCS; TWIST; bHLHa38
External IDs	OMIM: 601622 MGI: 98872 HomoloGene: 402 GeneCards: TWIST1 Gene
Gene Ontology Molecular function • DNA binding • sequence-specific DNA binding transcription factor activity • enzyme inhibitor activity • protein binding • transcription factor binding • protein domain specific binding • protein homodimerization activity • protein heterodimerization activity • E-box binding Cellular component • nucleus Biological process • negative regulation of transcription from RNA polymerase II promoter • skeletal system development • in utero embryonic development • neuron migration • neural tube closure • apoptosis • multicellular organismal development • muscle organ development • anatomical structure morphogenesis • negative regulation of tumor necrosis factor production • embryonic forelimb morphogenesis • hindlimb morphogenesis • embryonic digit morphogenesis • negative regulation of catalytic activity • negative regulation of osteoblast differentiation • negative regulation of striated muscle tissue development • positive regulation of transcription from RNA polymerase II promoter • embryonic cranial skeleton morphogenesis • cranial suture morphogenesis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7291	22160
Ensembl	ENSG00000122691	ENSMUSG00000035799
UniProt	Q15672	P26687
RefSeq (mRNA)	NM_000474.3	NM_011658.2
RefSeq (protein)	NP_000465.1	NP_035788.1
Location (UCSC)	Chr 7: 19.06 – 19.16 Mb	Chr 12: 34.64 – 34.64 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.

Interactions

Twist transcription factor has been shown to interact with EP300, TCF3 and PCAF.

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. PMC 1016122. PMID 1433226. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1016122. 
• 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. doi:10.1111/j.1399-0004.1981.tb02064.x. 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. PMC 232510. PMID 9343420. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=232510. 
• 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. doi:10.1136/jmg.36.8.650. PMC 1762975. PMID 10465122. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1762975. 
• 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. PMC 317004. PMID 10485844. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=317004. 
• 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. PMC 1757180. PMID 11474656. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1757180. 
• 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

• GeneReviews/NCBI.NIH.UW entry on Saethre-Chotzen Syndrome
• MeSH Twist+transcription+factor

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