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Wikipedia

Factor de transcripción asociado con microftalmia

Agosto 15, 2021

El factor de transcripción asociado con microftalmia (MITF) es un factor de transcripción con un dominio hélice-bucle-hélice básico de cremallera de leucina implicado en el desarrollo de melanocitos[1]​ y osteoclastos.[2]​

Factor de transcripción asociado con microftalmia
Estructuras disponibles
PDB Buscar ortólogos: PDBe, RCSB
Identificadores
Símbolos MITF (HGNC: 7105) WS2A
Identificadores
externos
Locus Cr. 3 p14.1
Ortólogos
Especies
Entrez
4286
UniProt
O75030 n/a
RefSeq
(ARNm)
NP_000239 n/a
[editar datos en Wikidata]

Importancia clínica

El factor de transcripción MITF está asociado con el síndrome de Tietz[3]​ y con el síndrome de Waardenburg tipo IIa.[4]​

Genes diana

La proteína MITF reconoce las secuencias E-box (5'-CANNTG-3') y M-box (5'-TCANNTG-3' ó 5'-CANNTGA-3') en las regiones promotoras de los genes diana (donde C = citosina; A = adenina; T = timina; G = guanina; N = cualquier nucleótido). Entre los genes diana conocidos y confirmados al menos por dos fuentes independientes de este factor de transcripción, se encuentran los siguientes:

ACP5[5]​[6]​

BCL2[6]​[7]​

BEST1[6]​[8]​

BIRC7[6]​[9]​

Cdk2[6]​[10]​

CLCN7[6]​[11]​

DCT[6]​[12]​

EDNRB[6]​[13]​

GPNMB[6]​[14]​

GPR143[6]​[15]​

MC1R[6]​[16]​

MLANA[6]​[17]​

OSTM1[6]​[11]​

RAB27A[6]​[18]​

SILV[6]​[17]​

SLC45A2[6]​[19]​

TBX2[6]​[20]​

TRPM1[6]​[21]​

TYR[6]​[22]​

TYRP1[6]​[23]​


Otros genes identificados por estudios de microarrays (que confirmaron las dianas mostradas anteriormente) incluyen los siguientes:[6]​

MBP TNFRSF14 IRF4 RBM35A
PLA1A APOLD1 KCNN2 INPP4B
CAPN3 LGALS3 GREB1 FRMD4B
SLC1A4 TBC1D16 GMPR ASAH1
MICAL1 TMC6 ITPKB SLC7A8

Interacciones

La proteína MITF ha demostrado ser capaz de interaccionar con:

Véase también

Referencias

  1. Levy C, Khaled M, Fisher DE (2006). «MITF: master regulator of melanocyte development and melanoma oncogene». Trends Mol Med 12 (9): 406-14. PMID 16899407. doi:10.1016/j.molmed.2006.07.008. 
  2. Hershey CL, Fisher DE (2004). «Mitf and Tfe3: members of a b-HLH-ZIP transcription factor family essential for osteoclast development and function». Bone 34 (4): 689-96. PMID 15050900. doi:10.1016/j.bone.2003.08.014. 
  3. Smith SD, Kelley PM, Kenyon JB, Hoover D (2000). «Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF». J. Med. Genet. 37 (6): 446-8. PMID 10851256. doi:10.1136/jmg.37.6.446. 
  4. Tachibana M, Kobayashi Y, Matsushima Y (2003). «Mouse models for four types of Waardenburg syndrome». Pigment Cell Res. 16 (5): 448-54. PMID 12950719. doi:10.1034/j.1600-0749.2003.00066.x. 
  5. Luchin A, Purdom G, Murphy K, et al. (2000). «The microphthalmia transcription factor reulates expression of the tartrate-resistant acid phosphatase gene during terminal differentiation of osteoclasts». J. Bone Miner. Res. 15 (3): 451-460. PMID 10750559. doi:10.1359/jbmr.2000.15.3.451. 
  6. ↑ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). «Novel MITF targets identified using a two-step DNA microarray strategy». Pigment Cell Melanoma Res. 21 (6): 665-76. PMID 19067971. doi:10.1111/j.1755-148X.2008.00505.x. 
  7. McGill GG, Horstmann M, Widlund HR, et al. (2002). «Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability». Cell 109 (6): 707-18. PMID 12086670. doi:10.1016/S0092-8674(02)00762-6. 
  8. Esumi N, Kachi S, Campochiaro PA, et al. (2007). «VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family». J. Biol. Chem. 282 (3): 1838-50. PMID 17085443. doi:10.1074/jbc.M609517200. 
  9. Dynek JN, Chan SM, Liu J, et al. (2008). «Microphthalmia-associated transcription factor is a critical transcriptional regulator of melanoma inhibitor of apoptosis in melanomas». Cancer Res. 68 (9): 3124-32. PMID 18451137. doi:10.1158/0008-5472.CAN-07-6622. 
  10. Du J, Widlund HR, Horstmann MA, et al. (2004). «Critical role of CDK2 for melanoma growth linked to its melanocyte-specific transcriptional regulation by MITF». Cancer Cell 6 (6): 565-76. PMID 15607961. doi:10.1016/j.ccr.2004.10.014. 
  11. ↑ Meadows NA, Sharma SM, Faulkner GJ, et al. (2007). «The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor». J. Biol. Chem. 282 (3): 1891-904. PMID 17105730. doi:10.1074/jbc.M608572200. 
  12. ↑ Yasumoto K, Takeda K, Saito H, et al. (2002). «Microphthalmia-associated transcription factor interacts with LEF-1, a mediator of Wnt signaling». Embo J. 21 (11): 2703-14. PMID 12032083. doi:10.1093/emboj/21.11.2703. 
  13. Sato-Jin K, Nishimura EK, Akasaka E, et al. (2008). «Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders». Faseb J. 22 (4): 1155-68. PMID 18039926. doi:10.1096/fj.07-9080com. 
  14. Loftus SK, Antonellis A, Matera I, et al. (2009). «Gpnmb is a Melanoblast-Expressed, MITF-Dependent Gene». Pigment Cell Melanoma Res. 22 (1): 99. PMID 18983539. doi:10.1111/j.1755-148X.2008.00518.x. 
  15. Vetrini F, Auricchio A, Du J, Angeletti B, et al. (2004). «The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis». Mol. Cell Biol. 24 (15): 6550-9. PMID 15254223. doi:10.1128/MCB.24.15.6550-6559.2004. 
  16. Aoki H, Moro O (2002). «Involvement of microphthalmia-associated transcription factor (MITF) in expression of human melanocortin-1 receptor (MC1R)». Life Sci. 71 (18): 2171-9. PMID 12204775. doi:10.1016/S0024-3205(02)01996-3. 
  17. ↑ Du J, Miller AJ, Widlund HR, et al. (2003). «MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma». Am. J. Pathol. 163 (1): 333-43. PMID 12819038. 
  18. Chiaverini C, Beuret L, Flori E, et al. (2008). «Microphthalmia-associated transcription factor regulates RAB27A gene expression and controls melanosome transport». J. Biol. Chem. 283 (18): 12635-42. PMID 18281284. doi:10.1074/jbc.M800130200. 
  19. Du J, Fisher DE (2002). «Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF». J. Biol. Chem. 277 (1): 402-6. PMID 11700328. doi:10.1074/jbc.M110229200. 
  20. Carreira S, Liu B, Goding CR (2000). «The gene encoding the T-box factor Tbx2 is a target for the microphthalmia-associated transcription factor in melanocytes». J. Biol. Chem. 275 (29): 21920-7. PMID 10770922. doi:10.1074/jbc.M000035200. 
  21. Miller AJ, Du J, Rowan S, et al. (2004). «Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma». Cancer Res. 64 (2): 509-16. PMID 14744763. doi:10.1158/0008-5472.CAN-03-2440. 
  22. Hou L, Panthier JJ, Arnheiter H (2000). «Signaling and transcriptional regulation in the neural crest-derived melanocyte lineage: interactions between KIT and MITF». Development 127 (24): 5379-89. PMID 11076759. 
  23. Fang D, Tsuji Y, Setaluri V (2002). «Selective down-regulation of tyrosinase family gene TYRP1 by inhibition of the activity of melanocyte transcription factor, MITF». Nucleic Acids Res. 30 (14): 3096-106. PMID 12136092. doi:10.1093/nar/gkf424. 
  24. Morii, Eiichi; Oboki Keisuke, Kataoka Tatsuki R, Igarashi Kazuhiko, Kitamura Yukihiko (Mar. de 2002). «Interaction and cooperation of mi transcription factor (MITF) and myc-associated zinc-finger protein-related factor (MAZR) for transcription of mouse mast cell protease 6 gene». J. Biol. Chem. (United States) 277 (10): 8566-71. ISSN 0021-9258. PMID 11751862. doi:10.1074/jbc.M110392200. 
  25. Levy, Carmit; Nechushtan Hovav, Razin Ehud (Jan. de 2002). «A new role for the STAT3 inhibitor, PIAS3: a repressor of microphthalmia transcription factor». J. Biol. Chem. (United States) 277 (3): 1962-6. ISSN 0021-9258. PMID 11709556. doi:10.1074/jbc.M109236200. 
  26. Steingrimsson, Eiríkur; Tessarollo Lino, Pathak Bhavani, Hou Ling, Arnheiter Heinz, Copeland Neal G, Jenkins Nancy A (Apr. de 2002). «Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development». Proc. Natl. Acad. Sci. U.S.A. (United States) 99 (7): 4477-82. ISSN 0027-8424. PMID 11930005. doi:10.1073/pnas.072071099. 
  27. Mansky, Kim C; Sulzbacher Sabine, Purdom Georgia, Nelsen Lori, Hume David A, Rehli Michael, Ostrowski Michael C (Feb. de 2002). «The microphthalmia transcription factor and the related helix-loop-helix zipper factors TFE-3 and TFE-C collaborate to activate the tartrate-resistant acid phosphatase promoter». J. Leukoc. Biol. (United States) 71 (2): 304-10. ISSN 0741-5400. PMID 11818452. 
  28. Xu, W; Gong L, Haddad M M, Bischof O, Campisi J, Yeh E T, Medrano E E (Mar. de 2000). «Regulation of microphthalmia-associated transcription factor MITF protein levels by association with the ubiquitin-conjugating enzyme hUBC9». Exp. Cell Res. (UNITED STATES) 255 (2): 135-43. ISSN 0014-4827. PMID 10694430. doi:10.1006/excr.2000.4803. 

Enlaces externos

  • MeSH: Microphthalmia-associated+transcription+factor (en inglés)
  •   Datos: Q336500
  •   Multimedia: Microphthalmia-associated transcription factor

Agosto 15, 2021
factor, transcripción, asociado, microftalmia, factor, transcripción, asociado, microftalmia, mitf, factor, transcripción, dominio, hélice, bucle, hélice, básico, cremallera, leucina, implicado, desarrollo, melanocitos, osteoclastos, estructuras, disponiblespd. El factor de transcripcion asociado con microftalmia MITF es un factor de transcripcion con un dominio helice bucle helice basico de cremallera de leucina implicado en el desarrollo de melanocitos 1 y osteoclastos 2 Factor de transcripcion asociado con microftalmiaEstructuras disponiblesPDBBuscar ortologos PDBe RCSBIdentificadoresSimbolosMITF HGNC 7105 WS2AIdentificadoresexternosOMIM 156845EBI MITFGeneCards Gen MITFUniProt MITFLocusCr 3 p14 1 Ontologia genicaReferencias AmiGO QuickGOOrtologosEspeciesHumano RatonEntrez4286UniProtO75030 n aRefSeq ARNm NP 000239 n avte editar datos en Wikidata Indice 1 Importancia clinica 2 Genes diana 3 Interacciones 4 Vease tambien 5 Referencias 6 Enlaces externosImportancia clinica EditarEl factor de transcripcion MITF esta asociado con el sindrome de Tietz 3 y con el sindrome de Waardenburg tipo IIa 4 Genes diana EditarLa proteina MITF reconoce las secuencias E box 5 CANNTG 3 y M box 5 TCANNTG 3 o 5 CANNTGA 3 en las regiones promotoras de los genes diana donde C citosina A adenina T timina G guanina N cualquier nucleotido Entre los genes diana conocidos y confirmados al menos por dos fuentes independientes de este factor de transcripcion se encuentran los siguientes ACP5 5 6 BCL2 6 7 BEST1 6 8 BIRC7 6 9 Cdk2 6 10 CLCN7 6 11 DCT 6 12 EDNRB 6 13 GPNMB 6 14 GPR143 6 15 MC1R 6 16 MLANA 6 17 OSTM1 6 11 RAB27A 6 18 SILV 6 17 SLC45A2 6 19 TBX2 6 20 TRPM1 6 21 TYR 6 22 TYRP1 6 23 Otros genes identificados por estudios de microarrays que confirmaron las dianas mostradas anteriormente incluyen los siguientes 6 MBP TNFRSF14 IRF4 RBM35APLA1AAPOLD1KCNN2INPP4BCAPN3LGALS3GREB1FRMD4BSLC1A4TBC1D16GMPRASAH1MICAL1TMC6ITPKBSLC7A8Interacciones EditarLa proteina MITF ha demostrado ser capaz de interaccionar con PATZ1 24 PIAS3 25 TFE3 26 27 UBE2I 28 LEF1 12 Vease tambien EditarMicroftalmiaReferencias Editar Levy C Khaled M Fisher DE 2006 MITF master regulator of melanocyte development and melanoma oncogene Trends Mol Med 12 9 406 14 PMID 16899407 doi 10 1016 j molmed 2006 07 008 Hershey CL Fisher DE 2004 Mitf and Tfe3 members of a b HLH ZIP transcription factor family essential for osteoclast development and function Bone 34 4 689 96 PMID 15050900 doi 10 1016 j bone 2003 08 014 Smith SD Kelley PM Kenyon JB Hoover D 2000 Tietz syndrome hypopigmentation deafness caused by mutation of MITF J Med Genet 37 6 446 8 PMID 10851256 doi 10 1136 jmg 37 6 446 Tachibana M Kobayashi Y Matsushima Y 2003 Mouse models for four types of Waardenburg syndrome Pigment Cell Res 16 5 448 54 PMID 12950719 doi 10 1034 j 1600 0749 2003 00066 x Luchin A Purdom G Murphy K et al 2000 The microphthalmia transcription factor reulates expression of the tartrate resistant acid phosphatase gene during terminal differentiation of osteoclasts J Bone Miner Res 15 3 451 460 PMID 10750559 doi 10 1359 jbmr 2000 15 3 451 a b c d e f g h i j k l m n n o p q r s t Hoek KS Schlegel NC Eichhoff OM et al 2008 Novel MITF targets identified using a two step DNA microarray strategy Pigment Cell Melanoma Res 21 6 665 76 PMID 19067971 doi 10 1111 j 1755 148X 2008 00505 x McGill GG Horstmann M Widlund HR et al 2002 Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability Cell 109 6 707 18 PMID 12086670 doi 10 1016 S0092 8674 02 00762 6 Esumi N Kachi S Campochiaro PA et al 2007 VMD2 promoter requires two proximal E box sites for its activity in vivo and is regulated by the MITF TFE family J Biol Chem 282 3 1838 50 PMID 17085443 doi 10 1074 jbc M609517200 Dynek JN Chan SM Liu J et al 2008 Microphthalmia associated transcription factor is a critical transcriptional regulator of melanoma inhibitor of apoptosis in melanomas Cancer Res 68 9 3124 32 PMID 18451137 doi 10 1158 0008 5472 CAN 07 6622 Du J Widlund HR Horstmann MA et al 2004 Critical role of CDK2 for melanoma growth linked to its melanocyte specific transcriptional regulation by MITF Cancer Cell 6 6 565 76 PMID 15607961 doi 10 1016 j ccr 2004 10 014 a b Meadows NA Sharma SM Faulkner GJ et al 2007 The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor J Biol Chem 282 3 1891 904 PMID 17105730 doi 10 1074 jbc M608572200 a b Yasumoto K Takeda K Saito H et al 2002 Microphthalmia associated transcription factor interacts with LEF 1 a mediator of Wnt signaling Embo J 21 11 2703 14 PMID 12032083 doi 10 1093 emboj 21 11 2703 Sato Jin K Nishimura EK Akasaka E et al 2008 Epistatic connections between microphthalmia associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders Faseb J 22 4 1155 68 PMID 18039926 doi 10 1096 fj 07 9080com Loftus SK Antonellis A Matera I et al 2009 Gpnmb is a Melanoblast Expressed MITF Dependent Gene Pigment Cell Melanoma Res 22 1 99 PMID 18983539 doi 10 1111 j 1755 148X 2008 00518 x Vetrini F Auricchio A Du J Angeletti B et al 2004 The microphthalmia transcription factor Mitf controls expression of the ocular albinism type 1 gene link between melanin synthesis and melanosome biogenesis Mol Cell Biol 24 15 6550 9 PMID 15254223 doi 10 1128 MCB 24 15 6550 6559 2004 Aoki H Moro O 2002 Involvement of microphthalmia associated transcription factor MITF in expression of human melanocortin 1 receptor MC1R Life Sci 71 18 2171 9 PMID 12204775 doi 10 1016 S0024 3205 02 01996 3 a b Du J Miller AJ Widlund HR et al 2003 MLANA MART1 and SILV PMEL17 GP100 are transcriptionally regulated by MITF in melanocytes and melanoma Am J Pathol 163 1 333 43 PMID 12819038 Chiaverini C Beuret L Flori E et al 2008 Microphthalmia associated transcription factor regulates RAB27A gene expression and controls melanosome transport J Biol Chem 283 18 12635 42 PMID 18281284 doi 10 1074 jbc M800130200 Du J Fisher DE 2002 Identification of Aim 1 as the underwhite mouse mutant and its transcriptional regulation by MITF J Biol Chem 277 1 402 6 PMID 11700328 doi 10 1074 jbc M110229200 Carreira S Liu B Goding CR 2000 The gene encoding the T box factor Tbx2 is a target for the microphthalmia associated transcription factor in melanocytes J Biol Chem 275 29 21920 7 PMID 10770922 doi 10 1074 jbc M000035200 Miller AJ Du J Rowan S et al 2004 Transcriptional regulation of the melanoma prognostic marker melastatin TRPM1 by MITF in melanocytes and melanoma Cancer Res 64 2 509 16 PMID 14744763 doi 10 1158 0008 5472 CAN 03 2440 Hou L Panthier JJ Arnheiter H 2000 Signaling and transcriptional regulation in the neural crest derived melanocyte lineage interactions between KIT and MITF Development 127 24 5379 89 PMID 11076759 Fang D Tsuji Y Setaluri V 2002 Selective down regulation of tyrosinase family gene TYRP1 by inhibition of the activity of melanocyte transcription factor MITF Nucleic Acids Res 30 14 3096 106 PMID 12136092 doi 10 1093 nar gkf424 Morii Eiichi Oboki Keisuke Kataoka Tatsuki R Igarashi Kazuhiko Kitamura Yukihiko Mar de 2002 Interaction and cooperation of mi transcription factor MITF and myc associated zinc finger protein related factor MAZR for transcription of mouse mast cell protease 6 gene J Biol Chem United States 277 10 8566 71 ISSN 0021 9258 PMID 11751862 doi 10 1074 jbc M110392200 La referencia utiliza el parametro obsoleto coautores ayuda Levy Carmit Nechushtan Hovav Razin Ehud Jan de 2002 A new role for the STAT3 inhibitor PIAS3 a repressor of microphthalmia transcription factor J Biol Chem United States 277 3 1962 6 ISSN 0021 9258 PMID 11709556 doi 10 1074 jbc M109236200 La referencia utiliza el parametro obsoleto coautores ayuda Steingrimsson Eirikur Tessarollo Lino Pathak Bhavani Hou Ling Arnheiter Heinz Copeland Neal G Jenkins Nancy A Apr de 2002 Mitf and Tfe3 two members of the Mitf Tfe family of bHLH Zip transcription factors have important but functionally redundant roles in osteoclast development Proc Natl Acad Sci U S A United States 99 7 4477 82 ISSN 0027 8424 PMID 11930005 doi 10 1073 pnas 072071099 La referencia utiliza el parametro obsoleto coautores ayuda Mansky Kim C Sulzbacher Sabine Purdom Georgia Nelsen Lori Hume David A Rehli Michael Ostrowski Michael C Feb de 2002 The microphthalmia transcription factor and the related helix loop helix zipper factors TFE 3 and TFE C collaborate to activate the tartrate resistant acid phosphatase promoter J Leukoc Biol United States 71 2 304 10 ISSN 0741 5400 PMID 11818452 La referencia utiliza el parametro obsoleto coautores ayuda Xu W Gong L Haddad M M Bischof O Campisi J Yeh E T Medrano E E Mar de 2000 Regulation of microphthalmia associated transcription factor MITF protein levels by association with the ubiquitin conjugating enzyme hUBC9 Exp Cell Res UNITED STATES 255 2 135 43 ISSN 0014 4827 PMID 10694430 doi 10 1006 excr 2000 4803 La referencia utiliza el parametro obsoleto coautores ayuda Enlaces externos EditarMeSH Microphthalmia associated transcription factor en ingles Datos Q336500 Multimedia Microphthalmia associated transcription factorObtenido de https es wikipedia org w index php 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