Twist transcription factor
From Wikipedia, the free encyclopedia
Twist-related protein 1 (TWIST1) also known as class A basic helix-loop-helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the TWIST1 gene.[1][2]
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Function[edit]
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 (a.k.a. TWIST2). The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially.[3]
Twist1 is thought to regulate osteogenic lineage.[4]
Clinical significance[edit]
Mutations in the TWIST1 gene are associated with Saethre-Chotzen syndrome,[5][6] breast cancer,[7] and Sézary Syndrome.[8]
As an oncogene[edit]
In cooperation with N-Myc, Twist-1 acts as an oncogene in several cancers including neuroblastoma.[9][10]
Twist1 is extensively studied for its role in head- and neck cancers.[11] Here, Twist1 has been shown to be involved in evading apoptosis, making the tumour cells resistant against chemotherapeutic drugs like cisplatin.[12] Moreover, Twist1 has been shown to be expressed under conditions of hypoxia, corresponding to the observation that hypoxic cells respond less to chemotherapeutic drugs.[11]
Another process in which Twist 1 is involved is tumour metastasis. The underlying mechanism is not completely known yet, but at least implicates the upregulation of matrix metalloproteinases[13] and inhibition of TIMP.[14]
Interactions[edit]
Twist transcription factor has been shown to interact with EP300,[15] TCF3[16] and PCAF.[15]
See also[edit]
References[edit]
- ^ Bourgeois P, Stoetzel C, Bolcato-Bellemin AL, Mattei MG, Perrin-Schmitt F (December 1996). "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.
- ^ Dollfus H, Kumaramanickavel G, Biswas P, Stoetzel C, Quillet R, Denton M, Maw M, Perrin-Schmitt F (July 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.
- ^ "Entrez Gene: TWIST1 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)".
- ^ Lee MS, Lowe GN, Strong DD, Wergedal JE, Glackin CA (December 1999). "TWIST, a basic helix-loop-helix transcription factor, can regulate the human osteogenic lineage". J. Cell. Biochem. 75 (4): 566–77. doi:10.1002/(SICI)1097-4644(19991215)75:4<566::AID-JCB3>3.0.CO;2-0. PMID 10572240.
- ^ Kress W, Schropp C, Lieb G, Petersen B, Büsse-Ratzka M, Kunz J, Reinhart E, Schäfer WD, Sold J, Hoppe F, Pahnke J, Trusen A, Sörensen N, Krauss J, Collmann H (January 2006). "Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome". Eur. J. Hum. Genet. 14 (1): 39–48. doi:10.1038/sj.ejhg.5201507. PMID 16251895.
- ^ Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW (January 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.
- ^ Martin TA, Goyal A, Watkins G, Jiang WG (June 2005). "Expression of the transcription factors snail, slug, and twist and their clinical significance in human breast cancer". Ann. Surg. Oncol. 12 (6): 488–96. doi:10.1245/ASO.2005.04.010. PMID 15864483.
- ^ van Doorn R, Dijkman R, Vermeer MH, Out-Luiting JJ, van der Raaij-Helmer EM, Willemze R, Tensen CP (August 2004). "Aberrant expression of the tyrosine kinase receptor EphA4 and the transcription factor twist in Sézary syndrome identified by gene expression analysis". Cancer Res. 64 (16): 5578–86. doi:10.1158/0008-5472.CAN-04-1253. PMID 15313894.
- ^ Puisieux A, Valsesia-Wittmann S, Ansieau S (January 2006). "A twist for survival and cancer progression". Br. J. Cancer 94 (1): 13–7. doi:10.1038/sj.bjc.6602876. PMC 2361066. PMID 16306876.
- ^ Martin, Tracey A.; Amit Goyal, Gareth Watkins and Wen G. Jiang (2005). "Expression of the Transcription Factors Snail, Slug, and Twist and Their Clinical Significance in Human Breast Cancer". ANNALS OF SURGICAL ONCOLOGY 12 (6): 488–496. doi:10.1245/ASO.2005.04.010.
- ^ a b Wu KJ, Yang MH (December 2011). "Epithelial-mesenchymal transition and cancer stemness: the Twist1-Bmi1 connection". Biosci. Rep. 31 (6): 449–55. doi:10.1042/BSR20100114. PMID 21919891.
- ^ Zhuo WL, Wang Y, Zhuo XL, Zhang YS, Chen ZT (May 2008). "Short interfering RNA directed against TWIST, a novel zinc finger transcription factor, increases A549 cell sensitivity to cisplatin via MAPK/mitochondrial pathway". Biochem. Biophys. Res. Commun. 369 (4): 1098–102. doi:10.1016/j.bbrc.2008.02.143. PMID 18331824.
- ^ Zhao XL, Sun T, Che N, Sun D, Zhao N, Dong XY, Gu Q, Yao Z, Sun BC (March 2011). "Promotion of hepatocellular carcinoma metastasis through matrix metalloproteinase activation by epithelial-mesenchymal transition regulator Twist1". J. Cell. Mol. Med. 15 (3): 691–700. doi:10.1111/j.1582-4934.2010.01052.x. PMID 20219012.
- ^ Okamura H, Yoshida K, Haneji T (July 2009). "Negative regulation of TIMP1 is mediated by transcription factor TWIST1". Int. J. Oncol. 35 (1): 181–6. PMID 19513566.
- ^ a b Hamamori Y, Sartorelli V, Ogryzko V, Puri PL, Wu HY, Wang JY, Nakatani Y, Kedes L (February 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.
- ^ El Ghouzzi V, Legeai-Mallet L, Aresta S, Benoist C, Munnich A, de Gunzburg J, Bonaventure J (March 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.
Further reading[edit]
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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[edit]
- GeneReviews/NCBI.NIH.UW entry on Saethre-Chotzen Syndrome
- Twist transcription factor at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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