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{{Infobox_gene}}
{{PBB_Controls
'''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]].<ref name="pmid8995765">{{cite journal | vauthors = Bourgeois P, Stoetzel C, Bolcato-Bellemin AL, Mattei MG, Perrin-Schmitt F | title = 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 | journal = Mammalian Genome | volume = 7 | issue = 12 | pages = 915–7 | date = Dec 1996 | pmid = 8995765 | doi = 10.1007/s003359900269 }}</ref><ref name="pmid11474656">{{cite journal | vauthors = Dollfus H, Kumaramanickavel G, Biswas P, Stoetzel C, Quillet R, Denton M, Maw M, Perrin-Schmitt F | title = Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22 | journal = Journal of Medical Genetics | volume = 38 | issue = 7 | pages = 470–2 | date = Jul 2001 | pmid = 11474656 | pmc = 1757180 | doi = 10.1136/jmg.38.7.470 }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)
| HGNCid = 12428
| Symbol = TWIST1
| AltSymbols =; ACS3; BPES2; BPES3; SCS; TWIST
| OMIM = 601622
| ECnumber = 
| Homologene = 402
| MGIid = 98872
| GeneAtlas_image1 = PBB_GE_TWIST1_213943_at_tn.png
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003702 |text = RNA polymerase II transcription factor activity}} {{GNF_GO|id=GO:0004857 |text = enzyme inhibitor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0000122 |text = negative regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0001764 |text = neuron migration}} {{GNF_GO|id=GO:0001843 |text = neural tube closure}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007001 |text = chromosome organization and biogenesis (sensu Eukaryota)}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0009653 |text = anatomical structure morphogenesis}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}} {{GNF_GO|id=GO:0030326 |text = embryonic limb morphogenesis}} {{GNF_GO|id=GO:0035137 |text = hindlimb morphogenesis}} {{GNF_GO|id=GO:0045596 |text = negative regulation of cell differentiation}} {{GNF_GO|id=GO:0045843 |text = negative regulation of striated muscle development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 7291
    | Hs_Ensembl = ENSG00000122691
    | Hs_RefseqProtein = NP_000465
    | Hs_RefseqmRNA = NM_000474
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 19121633
    | Hs_GenLoc_end = 19123820
    | Hs_Uniprot = Q15672
    | Mm_EntrezGene = 22160
    | Mm_Ensembl = ENSMUSG00000035799
    | Mm_RefseqmRNA = NM_011658
    | Mm_RefseqProtein = NP_035788
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 12
    | Mm_GenLoc_start = 34542918
    | Mm_GenLoc_end = 34545078
    | Mm_Uniprot = P26687
  }}
}}
'''Twist transcription factor''' is a [[basic-helix-loop-helix]] [[transcription factor]] associated with [[Saethre-Chotzen syndrome]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a [[basic helix-loop-helix|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.<ref name="entrez">{{cite web | title = Entrez Gene: TWIST1 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7291| accessdate = }}</ref>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: TWIST1 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7291| accessdate = }}</ref>
}}


==References==
Twist1 is thought to regulate [[osteogenic]] lineage.<ref name="pmid10572240">{{cite journal | vauthors = Lee MS, Lowe GN, Strong DD, Wergedal JE, Glackin CA | title = TWIST, a basic helix-loop-helix transcription factor, can regulate the human osteogenic lineage | journal = Journal of Cellular Biochemistry | volume = 75 | issue = 4 | pages = 566–77 | date = Dec 1999 | pmid = 10572240 | doi = 10.1002/(SICI)1097-4644(19991215)75:4<566::AID-JCB3>3.0.CO;2-0 }}</ref>
{{reflist|2}}
 
==Further reading==
== Clinical significance ==
{{refbegin | 2}}
 
{{PBB_Further_reading
Mutations in the TWIST1 gene are associated with [[Saethre-Chotzen syndrome]],<ref name="Kress_2006">{{cite journal | vauthors = 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 | title = Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome | journal = European Journal of Human Genetics | volume = 14 | issue = 1 | pages = 39–48 | date = Jan 2006 | pmid = 16251895 | doi = 10.1038/sj.ejhg.5201507 }}</ref><ref name="Howard_1997">{{cite journal | vauthors = Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW | title = Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome | journal = Nature Genetics | volume = 15 | issue = 1 | pages = 36–41 | date = Jan 1997 | pmid = 8988166 | doi = 10.1038/ng0197-36 }}</ref> [[breast cancer]],<ref name="pmid15864483">{{cite journal | vauthors = Martin TA, Goyal A, Watkins G, Jiang WG | title = Expression of the transcription factors snail, slug, and twist and their clinical significance in human breast cancer | journal = Annals of Surgical Oncology | volume = 12 | issue = 6 | pages = 488–96 | date = Jun 2005 | pmid = 15864483 | doi = 10.1245/ASO.2005.04.010 }}</ref> and [[Sézary Syndrome]].<ref name="van_Doorn_2004">{{cite journal | vauthors = van Doorn R, Dijkman R, Vermeer MH, Out-Luiting JJ, van der Raaij-Helmer EM, Willemze R, Tensen CP | title = Aberrant expression of the tyrosine kinase receptor EphA4 and the transcription factor twist in Sézary syndrome identified by gene expression analysis | journal = Cancer Research | volume = 64 | issue = 16 | pages = 5578–86 | date = Aug 2004 | pmid = 15313894 | doi = 10.1158/0008-5472.CAN-04-1253 }}</ref>
| citations =  
 
*{{cite journal  | author=Seto ML, Lee SJ, Sze RW, Cunningham ML |title=Another TWIST on Baller-Gerold syndrome. |journal=Am. J. Med. Genet. |volume=104 |issue= 4 |pages= 323-30 |year= 2002 |pmid= 11754069 |doi=  }}
=== As an oncogene ===
*{{cite journal | author=Brueton LA, van Herwerden L, Chotai KA, Winter RM |title=The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. |journal=J. Med. Genet. |volume=29 |issue= 10 |pages= 681-5 |year= 1992 |pmid= 1433226 |doi= }}
Twist plays an essential role in cancer metastasis. Over-expression of Twist or [[methylation]] of its [[promoter (genetics)|promoter]] is common in [[metastatic carcinoma]]s. Hence targeting Twist has a great promise as a cancer therapeutic.<ref name="pmid23873099">{{cite journal | vauthors = Khan MA, Chen HC, Zhang D, Fu J | title = Twist: a molecular target in cancer therapeutics | journal = Tumour Biology | volume = 34 | issue = 5 | pages = 2497–506 | date = Oct 2013 | pmid = 23873099 | doi = 10.1007/s13277-013-1002-x }}</ref> In cooperation with [[N-Myc]], Twist-1 acts as an [[oncogene]] in several cancers including [[neuroblastoma]].<ref name="pmid15864483"/><ref name="pmid16306876">{{cite journal | vauthors = Puisieux A, Valsesia-Wittmann S, Ansieau S | title = A twist for survival and cancer progression | journal = British Journal of Cancer | volume = 94 | issue = 1 | pages = 13–7 | date = Jan 2006 | pmid = 16306876 | pmc = 2361066 | doi = 10.1038/sj.bjc.6602876 }}</ref>
*{{cite journal | author=Bianchi DW, Cirillo-Silengo M, Luzzatti L, Greenstein RM |title=Interstitial deletion of the short arm of chromosome 7 without craniosynostosis. |journal=Clin. Genet. |volume=19 |issue= 6 |pages= 456-61 |year= 1982 |pmid= 7296937 |doi= }}
 
*{{cite journal | author=Rose CS, King AA, Summers D, ''et al.'' |title=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. |journal=Hum. Mol. Genet. |volume=3 |issue= 8 |pages= 1405-8 |year= 1995 |pmid= 7987323 |doi= }}
Twist is activated by a variety of [[signal transduction]] pathways, including [[Protein Kinase B|Akt]], signal transducer and activator of transcription 3 ([[STAT3]]), mitogen-activated protein kinase, [[Ras subfamily|Ras]], and [[Wnt signaling pathway|Wnt signaling]]. Activated Twist upregulates [[N-cadherin]] and downregulates [[E-cadherin]], which are the hallmarks of [[Epithelial–mesenchymal transition|EMT]]. Moreover, Twist plays an important role in some physiological processes involved in metastasis, like angiogenesis, invadopodia, extravasation, and chromosomal instability. Twist also protects cancer cells from apoptotic cell death. In addition, Twist is responsible for the maintenance of cancer stem cells and the development of chemotherapy resistance.<ref name="pmid23873099"/><ref name="Roberts_2016">{{cite journal | vauthors = Roberts CM, Tran MA, Pitruzzello MC, Wen W, Loeza J, Dellinger TH, Mor G, Glackin CA | title = TWIST1 drives cisplatin resistance and cell survival in an ovarian cancer model, via upregulation of GAS6, L1CAM, and Akt signalling | journal = Scientific Reports | volume = 6 | issue = | pages = 37652 | year = 2016 | pmid = 27876874 | pmc = 5120297 | doi = 10.1038/srep37652 }}</ref> Twist1 is extensively studied for its role in head- and neck cancers.<ref name="pmid21919891">{{cite journal | vauthors = Wu KJ, Yang MH | title = Epithelial-mesenchymal transition and cancer stemness: the Twist1-Bmi1 connection | journal = Bioscience Reports | volume = 31 | issue = 6 | pages = 449–55 | date = Dec 2011 | pmid = 21919891 | doi = 10.1042/BSR20100114 }}</ref> Here and in epithelial ovarian cancer, Twist1 has been shown to be involved in evading apoptosis, making the tumour cells resistant against platinum-based chemotherapeutic drugs like cisplatin.<ref name="Roberts_2016" /><ref name="pmid18331824">{{cite journal | vauthors = Zhuo WL, Wang Y, Zhuo XL, Zhang YS, Chen ZT | title = Short interfering RNA directed against TWIST, a novel zinc finger transcription factor, increases A549 cell sensitivity to cisplatin via MAPK/mitochondrial pathway | journal = Biochemical and Biophysical Research Communications | volume = 369 | issue = 4 | pages = 1098–102 | date = May 2008 | pmid = 18331824 | doi = 10.1016/j.bbrc.2008.02.143 }}</ref> Moreover, Twist1 has been shown to be expressed under conditions of hypoxia, corresponding to the observation that hypoxic cells respond less to chemotherapeutic drugs.<ref name="pmid21919891"/>
*{{cite journal | author=Maw M, Kar B, Biswas J, ''et al.'' |title=Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. |journal=Hum. Mol. Genet. |volume=5 |issue= 12 |pages= 2049-54 |year= 1997 |pmid= 8968762 |doi= }}
 
*{{cite journal  | author=Howard TD, Paznekas WA, Green ED, ''et al.'' |title=Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. |journal=Nat. Genet. |volume=15 |issue= 1 |pages= 36-41 |year= 1997 |pmid= 8988166 |doi= 10.1038/ng0197-36 }}
Another process in which Twist 1 is involved is tumour metastasis. The underlying mechanism is not completely understood, but it has been implicated in the upregulation of [[matrix metalloproteinase]]s<ref name="pmid20219012">{{cite journal | vauthors = Zhao XL, Sun T, Che N, Sun D, Zhao N, Dong XY, Gu Q, Yao Z, Sun BC | title = Promotion of hepatocellular carcinoma metastasis through matrix metalloproteinase activation by epithelial-mesenchymal transition regulator Twist1 | journal = Journal of Cellular and Molecular Medicine | volume = 15 | issue = 3 | pages = 691–700 | date = Mar 2011 | pmid = 20219012 | doi = 10.1111/j.1582-4934.2010.01052.x }}</ref> and inhibition of [[Tissue inhibitor of metalloproteinases|TIMP]].<ref name="pmid19513566">{{cite journal | vauthors = Okamura H, Yoshida K, Haneji T | title = Negative regulation of TIMP1 is mediated by transcription factor TWIST1 | journal = International Journal of Oncology | volume = 35 | issue = 1 | pages = 181–6 | date = Jul 2009 | pmid = 19513566 | doi = 10.3892/ijo_00000327 }}</ref>
*{{cite journal | author=el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, ''et al.'' |title=Mutations of the TWIST gene in the Saethre-Chotzen syndrome. |journal=Nat. Genet. |volume=15 |issue= 1 |pages= 42-6 |year= 1997 |pmid= 8988167 |doi= 10.1038/ng0197-42 }}
 
*{{cite journal  | author=Bourgeois P, Stoetzel C, Bolcato-Bellemin AL, ''et al.'' |title=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. |journal=Mamm. Genome |volume=7 |issue= 12 |pages= 915-7 |year= 1997 |pmid= 8995765 |doi= }}
Recently, targeting Twist has gained interest as a target for cancer therapeutics. The inactivation of Twist by [[small interfering RNA]] or [[chemotherapeutic]] approach has been demonstrated ''in vitro''. Moreover, several inhibitors which are antagonistic to the upstream or downstream molecules of Twist signaling pathways have also been identified.<ref name="pmid23873099"/>
*{{cite journal | author=Wang SM, Coljee VW, Pignolo RJ, ''et al.'' |title=Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues. |journal=Gene |volume=187 |issue= 1 |pages= 83-92 |year= 1997 |pmid= 9073070 |doi= }}
For example, thymoquinone, a natural product downregulates TWIST1 transcription factor to reduce epithelial to mesenchymal transition, and thus inhibits cancer metastasis in cancer cell lines and xenograft model of breast cancer in mouse <ref>{{cite journal | vauthors = Khan MA, Tania M, Wei C, Mei Z, Fu S, Cheng J, Xu J, Fu J | title = Thymoquinone inhibits cancer metastasis by downregulating TWIST1 expression to reduce epithelial to mesenchymal transition | journal = Oncotarget | date = May 2015 | pmid = 26023736 | volume=6 | pages=19580–91 | doi=10.18632/oncotarget.3973 | pmc=4637306}}</ref>
*{{cite journal | author=Krebs I, Weis I, Hudler M, ''et al.'' |title=Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. |journal=Hum. Mol. Genet. |volume=6 |issue= 7 |pages= 1079-86 |year= 1997 |pmid= 9215678 |doi= }}
 
*{{cite journal  | author=Rose CS, Patel P, Reardon W, ''et al.'' |title=The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. |journal=Hum. Mol. Genet. |volume=6 |issue= 8 |pages= 1369-73 |year= 1997 |pmid= 9259286 |doi= }}
== Interactions ==
*{{cite journal | author=Hamamori Y, Wu HY, Sartorelli V, Kedes L |title=The basic domain of myogenic basic helix-loop-helix (bHLH) proteins is the novel target for direct inhibition by another bHLH protein, Twist. |journal=Mol. Cell. Biol. |volume=17 |issue= 11 |pages= 6563-73 |year= 1997 |pmid= 9343420 |doi= }}
 
*{{cite journal  | author=Gripp KW, Stolle CA, Celle L, ''et al.'' |title=TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. |journal=Am. J. Med. Genet. |volume=82 |issue= 2 |pages= 170-6 |year= 1999 |pmid= 9934984 |doi= }}
Twist transcription factor has been shown to [[Protein-protein interaction|interact]] with [[EP300]],<ref name="pmid10025406">{{cite journal | vauthors = Hamamori Y, Sartorelli V, Ogryzko V, Puri PL, Wu HY, Wang JY, Nakatani Y, Kedes L | title = Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A | journal = Cell | volume = 96 | issue = 3 | pages = 405–13 | date = Feb 1999 | pmid = 10025406 | doi = 10.1016/S0092-8674(00)80553-X }}</ref> [[TCF3]]<ref name="pmid10749989">{{cite journal | vauthors = El Ghouzzi V, Legeai-Mallet L, Aresta S, Benoist C, Munnich A, de Gunzburg J, Bonaventure J | title = Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location | journal = Human Molecular Genetics | volume = 9 | issue = 5 | pages = 813–9 | date = Mar 2000 | pmid = 10749989 | doi = 10.1093/hmg/9.5.813 }}</ref> and [[PCAF]].<ref name=pmid10025406/>
*{{cite journal  | author=Hamamori Y, Sartorelli V, Ogryzko V, ''et al.'' |title=Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A. |journal=Cell |volume=96 |issue= 3 |pages= 405-13 |year= 1999 |pmid= 10025406 |doi= }}
 
*{{cite journal | author=Kunz J, Hudler M, Fritz B |title=Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome. |journal=J. Med. Genet. |volume=36 |issue= 8 |pages= 650-2 |year= 1999 |pmid= 10465122 |doi= }}
== See also ==
*{{cite journal  | author=Maestro R, Dei Tos AP, Hamamori Y, ''et al.'' |title=Twist is a potential oncogene that inhibits apoptosis. |journal=Genes Dev. |volume=13 |issue= 17 |pages= 2207-17 |year= 1999 |pmid= 10485844 |doi= }}
*[[Mutation]]
*{{cite journal | author=El Ghouzzi V, Legeai-Mallet L, Aresta S, ''et al.'' |title=Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location. |journal=Hum. Mol. Genet. |volume=9 |issue= 5 |pages= 813-9 |year= 2000 |pmid= 10749989 |doi= }}
*[[Transcription factor]]
*{{cite journal | author=Lee MS, Lowe G, Flanagan S, ''et al.'' |title=Human Dermo-1 has attributes similar to twist in early bone development. |journal=Bone |volume=27 |issue= 5 |pages= 591-602 |year= 2000 |pmid= 11062344 |doi= }}
 
*{{cite journal | author=Dollfus H, Kumaramanickavel G, Biswas P, ''et al.'' |title=Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. |journal=J. Med. Genet. |volume=38 |issue= 7 |pages= 470-2 |year= 2001 |pmid= 11474656 |doi= }}
== References ==
*{{cite journal | author=Elanko N, Sibbring JS, Metcalfe KA, ''et al.'' |title=A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. |journal=Hum. Mutat. |volume=18 |issue= 6 |pages= 535-41 |year= 2002 |pmid= 11748846 |doi= 10.1002/humu.1230 }}
{{reflist|33em}}
}}
 
== Further reading ==
{{refbegin|33em}}
* {{cite journal | vauthors = Seto ML, Lee SJ, Sze RW, Cunningham ML | title = Another TWIST on Baller-Gerold syndrome | journal = American Journal of Medical Genetics | volume = 104 | issue = 4 | pages = 323–30 | date = Dec 2001 | pmid = 11754069 | doi = 10.1002/ajmg.10065 }}
* {{cite journal | vauthors = Brueton LA, van Herwerden L, Chotai KA, Winter RM | title = The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p | journal = Journal of Medical Genetics | volume = 29 | issue = 10 | pages = 681–5 | date = Oct 1992 | pmid = 1433226 | pmc = 1016122 | doi = 10.1136/jmg.29.10.681 }}
* {{cite journal | vauthors = Bianchi DW, Cirillo-Silengo M, Luzzatti L, Greenstein RM | title = Interstitial deletion of the short arm of chromosome 7 without craniosynostosis | journal = Clinical Genetics | volume = 19 | issue = 6 | pages = 456–61 | date = Jun 1981 | pmid = 7296937 | doi = 10.1111/j.1399-0004.1981.tb02064.x }}
* {{cite journal | vauthors = Rose CS, King AA, Summers D, Palmer R, Yang S, Wilkie AO, Reardon W, Malcolm S, Winter RM | title = 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 | journal = Human Molecular Genetics | volume = 3 | issue = 8 | pages = 1405–8 | date = Aug 1994 | pmid = 7987323 | doi = 10.1093/hmg/3.8.1405 }}
* {{cite journal | vauthors = Maw M, Kar B, Biswas J, Biswas P, Nancarrow D, Bridges R, Kumaramanickavel G, Denton M, Badrinath SS | title = Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p | journal = Human Molecular Genetics | volume = 5 | issue = 12 | pages = 2049–54 | date = Dec 1996 | pmid = 8968762 | doi = 10.1093/hmg/5.12.2049 }}
* {{cite journal | vauthors = el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A, Bonaventure J | title = Mutations of the TWIST gene in the Saethre-Chotzen syndrome | journal = Nature Genetics | volume = 15 | issue = 1 | pages = 42–6 | date = Jan 1997 | pmid = 8988167 | doi = 10.1038/ng0197-42 }}
* {{cite journal | vauthors = Wang SM, Coljee VW, Pignolo RJ, Rotenberg MO, Cristofalo VJ, Sierra F | title = Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues | journal = Gene | volume = 187 | issue = 1 | pages = 83–92 | date = Mar 1997 | pmid = 9073070 | doi = 10.1016/S0378-1119(96)00727-5 }}
* {{cite journal | vauthors = Krebs I, Weis I, Hudler M, Rommens JM, Roth H, Scherer SW, Tsui LC, Füchtbauer EM, Grzeschik KH, Tsuji K, Kunz J | title = Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome | journal = Human Molecular Genetics | volume = 6 | issue = 7 | pages = 1079–86 | date = Jul 1997 | pmid = 9215678 | doi = 10.1093/hmg/6.7.1079 }}
* {{cite journal | vauthors = Rose CS, Patel P, Reardon W, Malcolm S, Winter RM | title = The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases | journal = Human Molecular Genetics | volume = 6 | issue = 8 | pages = 1369–73 | date = Aug 1997 | pmid = 9259286 | doi = 10.1093/hmg/6.8.1369 }}
* {{cite journal | vauthors = Hamamori Y, Wu HY, Sartorelli V, Kedes L | title = The basic domain of myogenic basic helix-loop-helix (bHLH) proteins is the novel target for direct inhibition by another bHLH protein, Twist | journal = Molecular and Cellular Biology | volume = 17 | issue = 11 | pages = 6563–73 | date = Nov 1997 | pmid = 9343420 | pmc = 232510 | doi =  10.1128/mcb.17.11.6563}}
* {{cite journal | vauthors = Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH | title = TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome | journal = American Journal of Medical Genetics | volume = 82 | issue = 2 | pages = 170–6 | date = Jan 1999 | pmid = 9934984 | doi = 10.1002/(SICI)1096-8628(19990115)82:2<170::AID-AJMG14>3.0.CO;2-X }}
* {{cite journal | vauthors = Hamamori Y, Sartorelli V, Ogryzko V, Puri PL, Wu HY, Wang JY, Nakatani Y, Kedes L | title = Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A | journal = Cell | volume = 96 | issue = 3 | pages = 405–13 | date = Feb 1999 | pmid = 10025406 | doi = 10.1016/S0092-8674(00)80553-X }}
* {{cite journal | vauthors = Kunz J, Hudler M, Fritz B | title = Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome | journal = Journal of Medical Genetics | volume = 36 | issue = 8 | pages = 650–2 | date = Aug 1999 | pmid = 10465122 | pmc = 1762975 | doi = 10.1136/jmg.36.8.650 }}
* {{cite journal | vauthors = Maestro R, Dei Tos AP, Hamamori Y, Krasnokutsky S, Sartorelli V, Kedes L, Doglioni C, Beach DH, Hannon GJ | title = Twist is a potential oncogene that inhibits apoptosis | journal = Genes & Development | volume = 13 | issue = 17 | pages = 2207–17 | date = Sep 1999 | pmid = 10485844 | pmc = 317004 | doi = 10.1101/gad.13.17.2207 }}
* {{cite journal | vauthors = El Ghouzzi V, Legeai-Mallet L, Aresta S, Benoist C, Munnich A, de Gunzburg J, Bonaventure J | title = Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location | journal = Human Molecular Genetics | volume = 9 | issue = 5 | pages = 813–9 | date = Mar 2000 | pmid = 10749989 | doi = 10.1093/hmg/9.5.813 }}
* {{cite journal | vauthors = Lee MS, Lowe G, Flanagan S, Kuchler K, Glackin CA | title = Human Dermo-1 has attributes similar to twist in early bone development | journal = Bone | volume = 27 | issue = 5 | pages = 591–602 | date = Nov 2000 | pmid = 11062344 | doi = 10.1016/S8756-3282(00)00380-X }}
* {{cite journal | vauthors = Dollfus H, Kumaramanickavel G, Biswas P, Stoetzel C, Quillet R, Denton M, Maw M, Perrin-Schmitt F | title = Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22 | journal = Journal of Medical Genetics | volume = 38 | issue = 7 | pages = 470–2 | date = Jul 2001 | pmid = 11474656 | pmc = 1757180 | doi = 10.1136/jmg.38.7.470 }}
* {{cite journal | vauthors = Elanko N, Sibbring JS, Metcalfe KA, Clayton-Smith J, Donnai D, Temple IK, Wall SA, Wilkie AO | title = A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals | journal = Human Mutation | volume = 18 | issue = 6 | pages = 535–41 | date = Dec 2001 | pmid = 11748846 | doi = 10.1002/humu.1230 }}
{{refend}}
{{refend}}


==External links==
== External links ==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=scs  GeneReviews/NCBI.NIH.UW entry on Saethre-Chotzen Syndrome]
* {{MeshName|Twist+transcription+factor}}
* {{MeshName|Twist+transcription+factor}}


{{protein-stub}}
{{NLM content}}
{{NLM content}}
{{Transcription factors}}
{{Transcription factors|g1}}
 
{{DEFAULTSORT:Twist Transcription Factor}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]

Latest revision as of 09:12, 18 October 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Wikidata
View/Edit Human

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]

Function

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

Mutations in the TWIST1 gene are associated with Saethre-Chotzen syndrome,[5][6] breast cancer,[7] and Sézary Syndrome.[8]

As an oncogene

Twist plays an essential role in cancer metastasis. Over-expression of Twist or methylation of its promoter is common in metastatic carcinomas. Hence targeting Twist has a great promise as a cancer therapeutic.[9] In cooperation with N-Myc, Twist-1 acts as an oncogene in several cancers including neuroblastoma.[7][10]

Twist is activated by a variety of signal transduction pathways, including Akt, signal transducer and activator of transcription 3 (STAT3), mitogen-activated protein kinase, Ras, and Wnt signaling. Activated Twist upregulates N-cadherin and downregulates E-cadherin, which are the hallmarks of EMT. Moreover, Twist plays an important role in some physiological processes involved in metastasis, like angiogenesis, invadopodia, extravasation, and chromosomal instability. Twist also protects cancer cells from apoptotic cell death. In addition, Twist is responsible for the maintenance of cancer stem cells and the development of chemotherapy resistance.[9][11] Twist1 is extensively studied for its role in head- and neck cancers.[12] Here and in epithelial ovarian cancer, Twist1 has been shown to be involved in evading apoptosis, making the tumour cells resistant against platinum-based chemotherapeutic drugs like cisplatin.[11][13] Moreover, Twist1 has been shown to be expressed under conditions of hypoxia, corresponding to the observation that hypoxic cells respond less to chemotherapeutic drugs.[12]

Another process in which Twist 1 is involved is tumour metastasis. The underlying mechanism is not completely understood, but it has been implicated in the upregulation of matrix metalloproteinases[14] and inhibition of TIMP.[15]

Recently, targeting Twist has gained interest as a target for cancer therapeutics. The inactivation of Twist by small interfering RNA or chemotherapeutic approach has been demonstrated in vitro. Moreover, several inhibitors which are antagonistic to the upstream or downstream molecules of Twist signaling pathways have also been identified.[9] For example, thymoquinone, a natural product downregulates TWIST1 transcription factor to reduce epithelial to mesenchymal transition, and thus inhibits cancer metastasis in cancer cell lines and xenograft model of breast cancer in mouse [16]

Interactions

Twist transcription factor has been shown to interact with EP300,[17] TCF3[18] and PCAF.[17]

See also

References

  1. ↑ Bourgeois P, Stoetzel C, Bolcato-Bellemin AL, Mattei MG, Perrin-Schmitt F (Dec 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". Mammalian Genome. 7 (12): 915–7. doi:10.1007/s003359900269. PMID 8995765.
  2. ↑ Dollfus H, Kumaramanickavel G, Biswas P, Stoetzel C, Quillet R, Denton M, Maw M, Perrin-Schmitt F (Jul 2001). "Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22". Journal of Medical Genetics. 38 (7): 470–2. doi:10.1136/jmg.38.7.470. PMC 1757180. PMID 11474656.
  3. ↑ "Entrez Gene: TWIST1 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)".
  4. ↑ Lee MS, Lowe GN, Strong DD, Wergedal JE, Glackin CA (Dec 1999). "TWIST, a basic helix-loop-helix transcription factor, can regulate the human osteogenic lineage". Journal of Cellular Biochemistry. 75 (4): 566–77. doi:10.1002/(SICI)1097-4644(19991215)75:4<566::AID-JCB3>3.0.CO;2-0. PMID 10572240.
  5. ↑ 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 (Jan 2006). "Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome". European Journal of Human Genetics. 14 (1): 39–48. doi:10.1038/sj.ejhg.5201507. PMID 16251895.
  6. ↑ Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW (Jan 1997). "Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome". Nature Genetics. 15 (1): 36–41. doi:10.1038/ng0197-36. PMID 8988166.
  7. ↑ 7.0 7.1 Martin TA, Goyal A, Watkins G, Jiang WG (Jun 2005). "Expression of the transcription factors snail, slug, and twist and their clinical significance in human breast cancer". Annals of Surgical Oncology. 12 (6): 488–96. doi:10.1245/ASO.2005.04.010. PMID 15864483.
  8. ↑ van Doorn R, Dijkman R, Vermeer MH, Out-Luiting JJ, van der Raaij-Helmer EM, Willemze R, Tensen CP (Aug 2004). "Aberrant expression of the tyrosine kinase receptor EphA4 and the transcription factor twist in Sézary syndrome identified by gene expression analysis". Cancer Research. 64 (16): 5578–86. doi:10.1158/0008-5472.CAN-04-1253. PMID 15313894.
  9. ↑ 9.0 9.1 9.2 Khan MA, Chen HC, Zhang D, Fu J (Oct 2013). "Twist: a molecular target in cancer therapeutics". Tumour Biology. 34 (5): 2497–506. doi:10.1007/s13277-013-1002-x. PMID 23873099.
  10. ↑ Puisieux A, Valsesia-Wittmann S, Ansieau S (Jan 2006). "A twist for survival and cancer progression". British Journal of Cancer. 94 (1): 13–7. doi:10.1038/sj.bjc.6602876. PMC 2361066. PMID 16306876.
  11. ↑ 11.0 11.1 Roberts CM, Tran MA, Pitruzzello MC, Wen W, Loeza J, Dellinger TH, Mor G, Glackin CA (2016). "TWIST1 drives cisplatin resistance and cell survival in an ovarian cancer model, via upregulation of GAS6, L1CAM, and Akt signalling". Scientific Reports. 6: 37652. doi:10.1038/srep37652. PMC 5120297. PMID 27876874.
  12. ↑ 12.0 12.1 Wu KJ, Yang MH (Dec 2011). "Epithelial-mesenchymal transition and cancer stemness: the Twist1-Bmi1 connection". Bioscience Reports. 31 (6): 449–55. doi:10.1042/BSR20100114. PMID 21919891.
  13. ↑ 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". Biochemical and Biophysical Research Communications. 369 (4): 1098–102. doi:10.1016/j.bbrc.2008.02.143. PMID 18331824.
  14. ↑ Zhao XL, Sun T, Che N, Sun D, Zhao N, Dong XY, Gu Q, Yao Z, Sun BC (Mar 2011). "Promotion of hepatocellular carcinoma metastasis through matrix metalloproteinase activation by epithelial-mesenchymal transition regulator Twist1". Journal of Cellular and Molecular Medicine. 15 (3): 691–700. doi:10.1111/j.1582-4934.2010.01052.x. PMID 20219012.
  15. ↑ Okamura H, Yoshida K, Haneji T (Jul 2009). "Negative regulation of TIMP1 is mediated by transcription factor TWIST1". International Journal of Oncology. 35 (1): 181–6. doi:10.3892/ijo_00000327. PMID 19513566.
  16. ↑ Khan MA, Tania M, Wei C, Mei Z, Fu S, Cheng J, Xu J, Fu J (May 2015). "Thymoquinone inhibits cancer metastasis by downregulating TWIST1 expression to reduce epithelial to mesenchymal transition". Oncotarget. 6: 19580–91. doi:10.18632/oncotarget.3973. PMC 4637306. PMID 26023736.
  17. ↑ 17.0 17.1 Hamamori Y, Sartorelli V, Ogryzko V, Puri PL, Wu HY, Wang JY, Nakatani Y, Kedes L (Feb 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.
  18. ↑ 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". Human Molecular Genetics. 9 (5): 813–9. doi:10.1093/hmg/9.5.813. PMID 10749989.

Further reading

External links

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

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