Twist transcription factor
| Twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila) | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | TWIST1 ; ACS3; BPES2; BPES3; SCS; TWIST | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 402 | ||||||||||
| |||||||||||
| RNA expression pattern | |||||||||||
| File:PBB GE TWIST1 213943 at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
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]
References
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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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
- Twist+transcription+factor at the US National Library of Medicine Medical Subject Headings (MeSH)
 | This protein-related article is a stub. You can help Wikipedia by expanding it. |
This article incorporates text from the United States National Library of Medicine, which is in the public domain.