Twist-related protein 1
(Redirected from
Twist transcription factor
)Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a
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
TWIST2). The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially.[7]
Twist1 is thought to regulate
osteogenic lineage.[8]
Clinical significance
Mutations in the TWIST1 gene are associated with
Sézary syndrome.[12]
Craniosynostosis
TWIST1 mutations are involved in a number of craniosynostosis presentations. It can present in nonsyndromic forms (isolated scaphocephaly, right unicoronal synostosis, and turricephaly), but also in syndromic forms such as:[13]
- Acrocephalosyndactyly type 1 (Apert syndrome) (primary FGFR2)
- Beare-Stevenson cutis gyrata syndrome (primary FGFR2)
- Crouzon syndrome (primary FGFR2)
- Crouzon syndrome-acanthosis nigricans syndrome (primary FGFR3)
- Jackson-Weiss syndrome (primary FGFR1 or FGFR2)
- Muenke syndrome (primary FGFR3)
- Pfeiffer syndrome (primary FGFR1 or FGFR2)
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.[14] In cooperation with N-Myc, Twist-1 acts as an oncogene in several cancers including neuroblastoma.[11][15]
Twist is activated by a variety of
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.[14][16] Twist1 is extensively studied for its role in head- and neck cancers.[17] 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.[16][18] Moreover, Twist1 has been shown to be expressed under conditions of hypoxia, corresponding to the observation that hypoxic cells respond less to chemotherapeutic drugs.[17]
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
TIMP.[20]
Recently, targeting Twist has gained interest as a target for cancer therapeutics. The inactivation of Twist by
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.[14]
Interactions
Twist transcription factor has been shown to interact with EP300,[21] TCF3[22] and PCAF.[21]
See also
- Transcription factor
- TWIST2
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000122691 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035799 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 42710079.
- PMID 11474656.
- ^ "Entrez Gene: TWIST1 twist homolog 1 (acrocephalosyndactyly 3; Saethre–Chotzen syndrome) (Drosophila)".
- S2CID 21874692.
- PMID 16251895.
- S2CID 35360537.
- ^ S2CID 19102926.
- S2CID 6506412.
- ^ "TWIST1-related craniosynostosis (Concept Id: C4551902) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-17.
- ^ S2CID 498698.
- PMID 16306876.
- ^ PMID 27876874.
- ^ S2CID 16648243.
- PMID 18331824.
- PMID 20219012.
- PMID 19513566.
- ^ S2CID 15808193.
- PMID 10749989.
Further reading
- Seto ML, Lee SJ, Sze RW, Cunningham ML (Dec 2001). "Another TWIST on Baller-Gerold syndrome". American Journal of Medical Genetics. 104 (4): 323–30. PMID 11754069.
- Brueton LA, van Herwerden L, Chotai KA, Winter RM (Oct 1992). "The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p". Journal of Medical Genetics. 29 (10): 681–5. PMID 1433226.
- Bianchi DW, Cirillo-Silengo M, Luzzatti L, Greenstein RM (Jun 1981). "Interstitial deletion of the short arm of chromosome 7 without craniosynostosis". Clinical Genetics. 19 (6): 456–61. S2CID 25464482.
- Rose CS, King AA, Summers D, Palmer R, Yang S, Wilkie AO, Reardon W, Malcolm S, Winter RM (Aug 1994). "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". Human Molecular Genetics. 3 (8): 1405–8. PMID 7987323.
- Maw M, Kar B, Biswas J, Biswas P, Nancarrow D, Bridges R, Kumaramanickavel G, Denton M, Badrinath SS (Dec 1996). "Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p". Human Molecular Genetics. 5 (12): 2049–54. PMID 8968762.
- el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A, Bonaventure J (Jan 1997). "Mutations of the TWIST gene in the Saethre-Chotzen syndrome". Nature Genetics. 15 (1): 42–6. S2CID 22140671.
- Wang SM, Coljee VW, Pignolo RJ, Rotenberg MO, Cristofalo VJ, Sierra F (Mar 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, Rommens JM, Roth H, Scherer SW, Tsui LC, Füchtbauer EM, Grzeschik KH, Tsuji K, Kunz J (Jul 1997). "Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome". Human Molecular Genetics. 6 (7): 1079–86. PMID 9215678.
- Rose CS, Patel P, Reardon W, Malcolm S, Winter RM (Aug 1997). "The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases". Human Molecular Genetics. 6 (8): 1369–73. PMID 9259286.
- Hamamori Y, Wu HY, Sartorelli V, Kedes L (Nov 1997). "The basic domain of myogenic basic helix-loop-helix (bHLH) proteins is the novel target for direct inhibition by another bHLH protein, Twist". Molecular and Cellular Biology. 17 (11): 6563–73. PMID 9343420.
- Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH (Jan 1999). "TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome". American Journal of Medical Genetics. 82 (2): 170–6. PMID 9934984.
- 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. S2CID 15808193.
- Kunz J, Hudler M, Fritz B (Aug 1999). "Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome". Journal of Medical Genetics. 36 (8): 650–2. PMID 10465122.
- Maestro R, Dei Tos AP, Hamamori Y, Krasnokutsky S, Sartorelli V, Kedes L, Doglioni C, Beach DH, Hannon GJ (Sep 1999). "Twist is a potential oncogene that inhibits apoptosis". Genes & Development. 13 (17): 2207–17. PMID 10485844.
- 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. PMID 10749989.
- Lee MS, Lowe G, Flanagan S, Kuchler K, Glackin CA (Nov 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, 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. PMID 11474656.
- Elanko N, Sibbring JS, Metcalfe KA, Clayton-Smith J, Donnai D, Temple IK, Wall SA, Wilkie AO (Dec 2001). "A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals". Human Mutation. 18 (6): 535–41. S2CID 45021510.
- Nurnberg ST, Guerraty MA, Wirka RC, Rao HS, Pjanic M, Norton S, et al. (January 2020). "Genomic profiling of human vascular cells identifies TWIST1 as a causal gene for common vascular diseases". PLOS Genetics. 16 (1): e1008538. PMID 31917787.
- ZZhang J, Guo JR, Wu XL, Wang X, Zhu ZM, Wang Y, Gu X, Fan Y (March 2021). "TWIST1 induces phenotypic switching of vascular smooth muscle cells by downregulating p68 and microRNA-143/145". FEBS Open Bio. 11 (3): 932–943. PMID 33470057.
External links
- GeneReviews/NCBI.NIH.UW entry on Saethre–Chotzen syndrome
- Twist+transcription+factor at the U.S. 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.