트위스트 관련 단백질 1
Twist-related protein 1
A급 염기성 나선-루프-나선 단백질 38(bHLHa38)로도 알려진 트위스트 관련 단백질 1(TWIST1)은 사람에게서 TWIST1 [5][6]유전자에 의해 코드되는 기본 나선-루프-나선 전사인자이다.
기능.
기본 나선-루프-헬릭스(bHLH) 전사 인자는 세포 계통의 결정과 분화에 관여하고 있다.이 유전자에 의해 코드된 단백질은 bHLH 전사인자이며 또 다른 bHLH 전사인자 Dermo1(일명 twist2)과 유사성을 공유한다.이 mRNA의 가장 강한 발현은 태반 조직에 있으며, 성인의 경우 중배엽 유도 조직이 우선적으로 이 mRNA를 발현한다.[7]
Twist1은 골형성 [8]혈통을 조절하는 것으로 생각된다.
임상적 의의
TWIST1 유전자의 돌연변이는 Saethre-Chotzen 증후군,[9][10] 유방암 [11]및 Sézary [12]증후군과 관련이 있다.
종양유전자로서
트위스트는 암 전이에 필수적인 역할을 한다.전이성 암종에서는 트위스트의 과잉 발현이나 프로모터의 메틸화가 일반적이다.따라서 Twist를 공략하는 것은 암 [13]치료제로서 큰 가능성을 가지고 있다.N-Myc와 협력하여 Twist-1은 신경아세포종을 [11][14]포함한 여러 암에서 종양 유전자로 작용합니다.
트위스트는 Akt, 신호 변환기 및 전사 3의 활성제, 마이트젠 활성 단백질 키나제, Ras 및 Wnt 시그널링을 포함한 다양한 신호 전달 경로에 의해 활성화된다.활성화된 트위스트는 EMT의 특징인 N-cadherin을 상향 조절하고 E-cadherin을 하향 조절합니다. 또한 Twist는 혈관신생, 인바도포디아, 엑스트라세이션, 염색체 불안정과 같은 전이와 관련된 일부 생리적 과정에 중요한 역할을 합니다.트위스트는 또한 암세포를 아포토시스 세포사망으로부터 보호한다.또한 Twist는 암 줄기세포의 유지와 화학요법 [13][15]내성 개발을 담당한다.Twist1은 두경부암에서 [16]그 역할을 위해 광범위하게 연구되고 있다.여기서와 상피 난소암에서 Twist1은 아포토시스 회피에 관여하는 것으로 밝혀져 [15][17]시스플라틴과 같은 백금계 화학요법 약물에 대한 종양세포의 내성을 높이고 있다.또한 Twist1은 저산소증 조건에서 발현되는 것으로 나타났으며, 이는 저산소 세포가 화학요법 [16]약물에 덜 반응한다는 관찰에 부합한다.
Twist 1이 관여하는 또 다른 과정은 종양 전이이다.기본 메커니즘은 완전히 이해되지 않았지만 매트릭스 메탈로프로테아제[18] 상향조절과 TIMP [19]저해에 관여하고 있다.
최근 암 치료의 대상으로 트위스트를 공략하는 것이 관심을 끌고 있다.작은 간섭 RNA 또는 화학요법 접근법에 의한 트위스트의 불활성화는 체외에서 입증되었다.또한 트위스트 시그널링 경로의 상류 또는 하류 분자에 대항하는 여러 억제제들도 확인되었다.[13]
상호 작용
트위스트 전사율은 EP300,[20] TCF3[21], PCAF와 [20]상호작용하는 것으로 나타났습니다.
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레퍼런스
- ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000122691 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000035799 - 앙상블, 2017년 5월
- ^ "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.
- ^ 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. S2CID 42710079.
- ^ 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.
- ^ "Entrez Gene: TWIST1 twist homolog 1 (acrocephalosyndactyly 3; Saethre–Chotzen syndrome) (Drosophila)".
- ^ 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. S2CID 21874692.
- ^ 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.
- ^ 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. S2CID 35360537.
- ^ a b 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. S2CID 19102926.
- ^ 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.
- ^ a b c 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. S2CID 498698.
- ^ 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.
- ^ a b 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. Bibcode:2016NatSR...637652R. doi:10.1038/srep37652. PMC 5120297. PMID 27876874.
- ^ a b 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. S2CID 16648243.
- ^ 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.
- ^ 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. PMC 3922390. PMID 20219012.
- ^ 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.
- ^ a b 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. S2CID 15808193.
- ^ 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.
추가 정보
- 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. doi:10.1002/ajmg.10065. 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. doi:10.1136/jmg.29.10.681. PMC 1016122. 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. doi:10.1111/j.1399-0004.1981.tb02064.x. PMID 7296937. 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. doi:10.1093/hmg/3.8.1405. 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. doi:10.1093/hmg/5.12.2049. 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. doi:10.1038/ng0197-42. PMID 8988167. 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. doi:10.1016/S0378-1119(96)00727-5. 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. doi:10.1093/hmg/6.7.1079. 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. doi:10.1093/hmg/6.8.1369. 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. doi:10.1128/mcb.17.11.6563. PMC 232510. 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. 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, 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. 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. doi:10.1136/jmg.36.8.650 (inactive 28 February 2022). PMC 1762975. PMID 10465122.
{{cite journal}}: CS1 유지 : 2022년 2월 현재 DOI 비활성화 (링크) - 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. doi:10.1101/gad.13.17.2207. PMC 317004. 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. doi:10.1093/hmg/9.5.813. 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. doi:10.1016/S8756-3282(00)00380-X. 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. doi:10.1136/jmg.38.7.470. PMC 1757180. 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. doi:10.1002/humu.1230. PMID 11748846. 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. doi:10.1371/journal.pgen.1008538. PMC 6975560. 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. doi:10.1002/2211-5463.13092. PMC 7931233. PMID 33470057.
