Cited by 430melanin and skin pigmentationMelanoma and MAPK PathwaysCutaneous Melanoma Detection and Management

MITF-the first 25 years

Open access
Goding, Colin R., Arnheiter, Heinz·2019·Genes & Development

Abstract

All transcription factors are equal, but some are more equal than others. In the 25 yr since the gene encoding the microphthalmia-associated transcription factor (MITF) was first isolated, MITF has emerged as a key coordinator of many aspects of melanocyte and melanoma biology. Like all transcription factors, MITF binds to specific DNA sequences and up-regulates or down-regulates its target genes. What marks MITF as being remarkable among its peers is the sheer range of biological processes that it appears to coordinate. These include cell survival, differentiation, proliferation, invasion, senescence, metabolism, and DNA damage repair. In this article we present our current understanding of MITF's role and regulation in development and disease, as well as those of the MITF-related factors TFEB and TFE3, and highlight key areas where our knowledge of MITF regulation and function is limited.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1101/gad.324657.119

Cites

11 of 11 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • The closest human homolog of Rtg3p is an isoform of the microphthalmia-associated transcription factor (MITF).

    “The closest human homolog of Rtg3p is an isoform of the microphthalmia-associated transcription factor (MITF) (Goding and Arnheiter 2019).”

    From Mitochondrial retrograde control of transcription evolves with respiratory stress, metabolic adaptation, and virulence in budding yeasts (2026) · cites this paper as Goding and Arnheiter 2019

    The MITF genetics section says MITF has multiple isoforms and describes homologs in primitive metazoans, but it does not identify Rtg3p or compare it with human MITF. Searches for “Rtg3p” and for a yeast retrograde transcription-factor homolog found no passage establishing the claimed closest-homolog relationship. No page numbers were provided in our copy. (LLM, conf=0.73)

    Experimental — accuracy not yet measured
  • The human homolog of Rtg3p is the microphthalmia-associated transcription factor (MITF).

    “The human homolog of Rtg3p is the microphthalmia-associated transcription factor (MITF) (Goding and Arnheiter 2019), which is not involved in mitonuclear signaling that in Metazoa evolved independently and uses different mechanisms (Butow and Avadhani 2004; Jazwinski 2014; English et al. 2020).”

    From Mitochondrial retrograde control of transcription evolves with respiratory stress, metabolic adaptation, and virulence in budding yeasts (2026) · cites this paper as Goding and Arnheiter 2019

    The MITF genetics section (page unavailable) describes human MITF and traces Mitf homologs to primitive metazoans, but does not identify Rtg3p as one of them. Searches for Rtg3p and yeast retrograde-response homology found no passage establishing the claimed relationship. (LLM, conf=0.72)

    Experimental — accuracy not yet measured

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Research works printed but not linked: 219

  1. Abel EV, Basile KJ, Kugel CH III, Witkiewicz AK, Le K, Amaravadi RK, Karakousis GC, Xu X, Xu W, Schuchter LM, 2013 Melanoma adapts to RAF/MEK inhibitors through FOXD3-mediated upregulation of ERBB3. J Clin Invest 123: 2155– 2168. 10.1172/JCI65780 23543055 PMC3635724 · DOI
  2. Aksan I, Goding CR. 1998 Targeting the microphthalmia basic helix–loop–helix-leucine zipper transcription factor to a subset of E-box elements in vitro and in vivo. Mol Cell Biol 18: 6930– 6938. 10.1128/MCB.18.12.6930 9819381 PMC109276 · DOI
  3. Alexaki VI, Javelaud D, Van Kempen LC, Mohammad KS, Dennler S, Luciani F, Hoek KS, Juarez P, Goydos JS, Fournier PJ, 2010 GLI2-mediated melanoma invasion and metastasis. J Natl Cancer Inst 102: 1148– 1159. 10.1093/jnci/djq257 20660365 PMC2914763 · DOI
  4. Alves CP, Yokoyama S, Goedert L, Pontes CLS, Sousa JF, Fisher DE, Espreafico EM. 2017 MYO5A gene is a target of MITF in melanocytes. J Invest Dermatol 137: 985– 989. 10.1016/j.jid.2016.11.026 27939378 · DOI
  5. Arnheiter H. 2010 The discovery of the microphthalmia locus and its gene, Mitf. Pigment Cell Melanoma Res 23: 729– 735. 10.1111/j.1755-148X.2010.00759.x 20807369 PMC2964399 · DOI
  6. Arnheiter H. 2017 What's in a name. Pigment Cell Melanoma Res 30: 279 10.1111/pcmr.12595 28460418 · DOI
  7. Arnheiter H, Wang X, Bharti K, Debbache J, Skuntz S, Liu WF, Bismuth K, Hallson JH, Steingrimsson E. 2008 The role of MITF isoforms during pigment cell development. Pigment Cell Melanoma Res 21: 245 10.1111/j.1755-148X.2008.00488.x · DOI
  8. Arozarena I, Sanchez-Laorden B, Packer L, Hidalgo-Carcedo C, Hayward R, Viros A, Sahai E, Marais R. 2011 Oncogenic BRAF induces melanoma cell invasion by downregulating the cGMP-specific phosphodiesterase PDE5A. Cancer Cell 19: 45– 57. 10.1016/j.ccr.2010.10.029 21215707 · DOI
  9. Arts N, Cané S, Hennequart M, Lamy J, Bommer G, Van den Eynde B, De Plaen E. 2015 microRNA-155, induced by interleukin-1ss, represses the expression of microphthalmia-associated transcription factor (MITF-M) in melanoma cells. PLoS One 10: e0122517 10.1371/journal.pone.0122517 25853464 PMC4390329 · DOI
  10. Baranowska Körberg I, Sundström E, Meadows JR, Rosengren Pielberg G, Gustafson U, Hedhammar A, Karlsson EK, Seddon J, Soderberg A, Vilà C, 2014 A simple repeat polymorphism in the MITF-M promoter is a key regulator of white spotting in dogs. PLoS One 9: e104363 10.1371/journal.pone.0104363 25116146 PMC4130573 · DOI
  11. Bauer GL, Praetorius C, Bergsteinsdóttir K, Hallsson JH, Gísladóttir BK, Schepsky A, Swing DA, O'Sullivan TN, Arnheiter H, Bismuth K, 2009 The role of MITF phosphorylation sites during coat color and eye development in mice analyzed by bacterial artificial chromosome transgene rescue. Genetics 183: 581– 594. 10.1534/genetics.109.103945 19635938 PMC2766318 · DOI
  12. Bell RE, Levy C. 2011 The three M's: melanoma, microphthalmia-associated transcription factor and microRNA. Pigment Cell Melanoma Res 24: 1088– 1106. 10.1111/j.1755-148X.2011.00931.x 22004179 · DOI
  13. Bemis LT, Chen R, Amato CM, Classen EH, Robinson SE, Coffey DG, Erickson PF, Shellman YG, Robinson WA. 2008 MicroRNA-137 targets microphthalmia-associated transcription factor in melanoma cell lines. Cancer Res 68: 1362– 1368. 10.1158/0008-5472.CAN-07-2912 18316599 · DOI
  14. Bennett DC. 2015 Genetics of melanoma progression: the rise and fall of cell senescence. Pigment Cell Melanoma Res 29: 129– 140. 10.1111/pcmr.12422 26386262 · DOI
  15. Bentley NJ, Eisen T, Goding CR. 1994 Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator. Mol Cell Biol 14: 7996– 8006. 10.1128/MCB.14.12.7996 7969139 PMC359338 · DOI
  16. Bertolotto CKB, Ortonne J-P, Ballotti R. 1996 Regulation of tyrosinase gene expression by cAMP in B16 melanoma cells involves two CATGTG motifs surrounding the TATA box: implication of the microphthalmia gene product. J Cell Sci 134: 747– 755. 10.1083/jcb.134.3.747 PMC2120943 8707852 · DOI
  17. Bertolotto C, Abbe P, Hemesath TJ, Bile K, Fisher DE, Ortonne J-P, Ballotti R. 1998a Microphthalmia gene product as a signal transducer in cAMP-induced differentiation of melanocytes. J Cell Biol 142: 827– 835. 10.1083/jcb.142.3.827 9700169 PMC2148160 · DOI
  18. Bertolotto C, Buscà R, Abbe P, Bille K, Aberdam E, Ortonne J-P, Ballotti R. 1998b Different cis-acting elements are involved in the regulation of TRP1 and TRP2 promoter activities by cyclin AMP: pivotal role of M boxes (GTCATGTGCT) and of microphthalmia. Mol Cell Biol 18: 694– 702. 10.1128/MCB.18.2.694 9447965 PMC108780 · DOI
  19. Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 480: 94– 98. 10.1038/nature10539 22012259 · DOI
  20. Beuret L, Flori E, Denoyelle C, Bille K, Buscà R, Picardo M, Bertolotto C, Ballotti R. 2007 Up-regulation of MET expression by α-melanocyte stimulating hormone and MITF allows HGF to protect melanocytes and melanoma cells from apoptosis. J Biol Chem 282: 14140– 14147. 10.1074/jbc.M611563200 17371876 · DOI
  21. Bharti K, Nguyen M-TT, Skunz S, Bertuzzi S, Arnheiter H. 2006 The other pigment cell: specification and development of the pigmented epithelium of the vertebrate eye. Pigment Cell Res 19: 380– 394. 10.1111/j.1600-0749.2006.00318.x 16965267 PMC1564434 · DOI · Paper page
  22. Bharti K, Liu W, Csermely T, Bertuzzi S, Arnheiter H. 2008 Alternative promoter use in eye development: the complex role and regulation of the transcription factor MITF. Development 135: 1169– 1178. 10.1242/dev.014142 18272592 PMC2276638 · DOI
  23. Bharti K, Gasper M, Ou J, Brucato M, Clore-Gronenborn K, Pickel J, Arnheiter H. 2012 A regulatory loop involving PAX6, MITF, and WNT signaling controls retinal pigment epithelium development. PLoS Genet 8: e1002757 10.1371/journal.pgen.1002757 22792072 PMC3390378 · DOI · Paper page
  24. Bianchi-Smiraglia A, Bagati A, Fink EE, Moparthy S, Wawrzyniak JA, Marvin EK, Battaglia S, Jowdy P, Kolesnikova M, Foley CE, 2017 Microphthalmia-associated transcription factor suppresses invasion by reducing intracellular GTP pools. Oncogene 36: 84– 96. 10.1038/onc.2016.178 27181209 PMC5112150 · DOI
  25. Bismuth K, Skuntz S, Hallsson JH, Pak E, Dutra AS, Steingrimsson E, Arnheiter H. 2008 An unstable targeted allele of the mouse Mitf gene with a high somatic and germline reversion rate. Genetics 178: 259– 272. 10.1534/genetics.107.081893 18202372 PMC2206076 · DOI
  26. Bonet C, Luciani F, Ottavi JF, Leclerc J, Jouenne FM, Boncompagni M, Bille K, Hofman V, Bossis G, Marco de Donatis G, 2017 Deciphering the role of oncogenic MITFE318K in senescence delay and melanoma progression. J Natl Cancer Inst 109: djw340 10.1093/jnci/djw340 28376192 · DOI
  27. Bonvin E, Falletta P, Shaw H, Delmas V, Goding CR. 2012 A phosphatidylinositol 3-kinase–Pax3 axis regulates Brn-2 expression in melanoma. Mol Cell Biol 32: 4674– 4683. 10.1128/MCB.01067-12 22988297 PMC3486186 · DOI
  28. Bouillet P, Cory S, Zhang LC, Strasser A, Adams JM. 2001 Degenerative disorders caused by Bcl-2 deficiency prevented by loss of its BH3-only antagonist Bim. Dev Cell 1: 645– 653. 10.1016/S1534-5807(01)00083-1 11709185 · DOI
  29. Bouras T, Fu M, Sauve AA, Wang F, Quong AA, Perkins ND, Hay RT, Gu W, Pestell RG. 2005 SIRT1 deacetylation and repression of p300 involves lysine residues 1020/1024 within the cell cycle regulatory domain 1. J Biol Chem 280: 10264– 10276. 10.1074/jbc.M408748200 15632193 · DOI
  30. Boyle GM, Woods SL, Bonazzi VF, Stark MS, Hacker E, Aoude LG, Dutton-Regester K, Cook AL, Sturm RA, Hayward NK. 2011 Melanoma cell invasiveness is regulated by miR-211 suppression of the BRN2 transcription factor. Pigment Cell Melanoma Res 24: 535– 537. 10.1111/j.1755-148X.2011.00849.x 21435193 · DOI
  31. Bronisz A, Sharma SM, Hu R, Godlewski J, Tzivion G, Mansky KC, Ostrowski MC. 2006 Microphthalmia-associated transcription factor interactions with 14-3-3 modulate differentiation of committed myeloid precursors. Mol Biol Cell 17: 3897– 3906. 10.1091/mbc.e06-05-0470 16822840 PMC1593166 · DOI
  32. Buscà R, Berra E, Gaggioli C, Khaled M, Bille K, Marchetti B, Thyss R, Fitsialos G, Larribere L, Bertolotto C, 2005 Hypoxia-inducible factor 1α is a new target of microphthalmia-associated transcription factor (MITF) in melanoma cells. J Cell Biol 170: 49– 59. 10.1083/jcb.200501067 15983061 PMC2171372 · DOI
  33. Carmi-Levy I, Yannay-Cohen N, Kay G, Razin E, Nechushtan H. 2008 Diadenosine tetraphosphate hydrolase is part of the transcriptional regulation network in immunologically activated mast cells. Mol Cell Biol 28: 5777– 5784. 10.1128/MCB.00106-08 18644867 PMC2546939 · DOI
  34. Carreira S, Goodall J, Aksan I, La Rocca SA, Galibert MD, Denat L, Larue L, Goding CR. 2005 Mitf cooperates with Rb1 and activates p21Cip1 expression to regulate cell cycle progression. Nature 433: 764– 769. 10.1038/nature03269 15716956 · DOI
  35. Carreira S, Goodall J, Denat L, Rodriguez M, Nuciforo P, Hoek KS, Testori A, Larue L, Goding CR. 2006 Mitf regulation of Dia1 controls melanoma proliferation and invasiveness. Genes Dev 20: 3426– 3439. 10.1101/gad.406406 17182868 PMC1698449 · DOI · Paper page
  36. Cheli Y, Ohanna M, Ballotti R, Bertolotto C. 2010 Fifteen-year quest for microphthalmia-associated transcription factor target genes. Pigment Cell Melanioama Res 23: 27– 40. 10.1111/j.1755-148X.2009.00653.x 19995375 · DOI
  37. Chiaverini C, Beuret L, Flori E, Buscà R, Abbe P, Bille K, Bahadoran P, Ortonne JP, Bertolotto C, Ballotti R. 2008 Microphthalmia-associated transcription factor regulates RAB27A gene expression and controls melanosome transport. J Biol Chem 283: 12635– 12642. 10.1074/jbc.M800130200 18281284 · DOI
  38. Clevers H. 2006 Wnt/β-catenin signaling in development and disease. Cell 127: 469– 480. 10.1016/j.cell.2006.10.018 17081971 · DOI · Paper page
  39. Cook AL, Donatien PD, Smith AG, Murphy M, Jones MK, Herlyn M, Bennett DC, Leonard JH, Sturm RA. 2003 Human melanoblasts in culture: expression of BRN2 and synergistic regulation by fibroblast growth factor-2, stem cell factor, and endothelin-3. J Invest Dermatol 121: 1150– 1159. 10.1046/j.1523-1747.2003.12562.x 14708619 · DOI
  40. Cronin JC, Watkins-Chow DE, Incao A, Hasskamp JH, Schonewolf N, Aoude LG, Hayward NK, Bastian BC, Dummer R, Loftus SK, 2013 SOX10 ablation arrests cell cycle, induces senescence, and suppresses melanomagenesis. Cancer Res 73: 5709– 5718. 10.1158/0008-5472.CAN-12-4620 23913827 PMC3803156 · DOI
  41. Curran K, Raible DW, Lister JA. 2009 Foxd3 controls melanophore specification in the zebrafish neural crest by regulation of Mitf. Dev Biol 332: 408– 417. 10.1016/j.ydbio.2009.06.010 19527705 PMC2716409 · DOI · Paper page
  42. Dancy BM, Cole PA. 2015 Protein lysine acetylation by p300/CBP. Chem Rev 115: 2419– 2452. 10.1021/cr500452k 25594381 PMC4378506 · DOI
  43. Davis IJ, Kim JJ, Ozsolak F, Widlund HR, Rozenblatt-Rosen O, Granter SR, Du J, Fletcher JA, Denny CT, Lessnick SL, 2006 Oncogenic MITF dysregulation in clear cell sarcoma: defining the MiT family of human cancers. Cancer Cell 9: 473– 484. 10.1016/j.ccr.2006.04.021 16766266 · DOI
  44. Debbache J, Zaidi MR, Davis S, Guo T, Bismuth K, Wang X, Skuntz S, Maric D, Pickel J, Meltzer P, 2012 In vivo role of alternative splicing and serine phosphorylation of the microphthalmia-associated transcription factor. Genetics 191: 133– 144. 10.1534/genetics.111.135996 22367038 PMC3338255 · DOI
  45. Decressac M, Björklund A. 2013 TFEB: pathogenic role and therapeutic target in Parkinson disease. Autophagy 9: 1244– 1246. 10.4161/auto.25044 23715007 PMC3748195 · DOI
  46. de la Serna IL, Ohkawa Y, Higashi C, Dutta C, Osias J, Kommajosyula N, Tachibana T, Imbalzano AN. 2006 The microphthalmia-associated transcription factor requires SWI/SNF enzymes to activate melanocyte-specific genes. J Biol Chem 281: 20233– 20241. 10.1074/jbc.M512052200 16648630 · DOI
  47. Delmas V, Beermann F, Martinozzi S, Carreira S, Ackermann J, Kumasaka M, Denat L, Goodall J, Luciani F, Viros A, 2007 β-Catenin induces immortalization of melanocytes by suppressing p16INK4a expression and cooperates with N-Ras in melanoma development. Genes Dev 21: 2923– 2935. 10.1101/gad.450107 18006687 PMC2049194 · DOI
  48. Dennler S, André J, Verrecchia F, Mauviel A. 2009 Cloning of the human GLI2 Promoter: transcriptional activation by transforming growth factor-β via SMAD3/β-catenin cooperation. J Biol Chem 284: 31523– 31531. 10.1074/jbc.M109.059964 19797115 PMC2797221 · DOI
  49. Dorsky RI, Raible DW, Moon RT. 2000 Direct regulation of nacre, a zebrafish MITF homolog required for pigment cell formation, by the Wnt pathway. Genes Dev 14: 158– 162. 10652270 PMC316348
  50. Du J, Widlund HR, Horstmann MA, Ramaswamy S, Ross K, Huber WE, Nishimura EK, Golub TR, Fisher DE. 2004 Critical role of CDK2 for melanoma growth linked to its melanocyte-specific transcriptional regulation by MITF. Cancer Cell 6: 565– 576. 10.1016/j.ccr.2004.10.014 15607961 · DOI
  51. Dynek JN, Chan SM, Liu J, Zha J, Fairbrother WJ, Vucic D. 2008 Microphthalmia-associated transcription factor is a critical transcriptional regulator of melanoma inhibitor of apoptosis in melanomas. Cancer Res 68: 3124– 3132. 10.1158/0008-5472.CAN-07-6622 18451137 · DOI
  52. Elworthy S, Lister JA, Carney TJ, Raible DW, Kelsh RN. 2003 Transcriptional regulation of mitfa accounts for the sox10 requirement in zebrafish melanophore development. Development 130: 2809– 2818. 10.1242/dev.00461 12736222 · DOI · Paper page
  53. Faião-Flores F, Alves-Fernandes DK, Pennacchi PC, Sandri S, Vicente AL, Scapulatempo-Neto C, Vazquez VL, Reis RM, Chauhan J, Goding CR, 2017 Targeting the hedgehog transcription factors GLI1 and GLI2 restores sensitivity to vemurafenib-resistant human melanoma cells. Oncogene 36: 1849– 1861. 10.1038/onc.2016.348 27748762 PMC5378933 · DOI
  54. Falletta P, Sanchez-del-Campo L, Chauhan J, Effern M, Kenyon A, Kershaw CJ, Siddaway R, Lisle R, Freter R, Daniels M, 2017 Translation reprogramming is an evolutionarily conserved driver of phenotypic plasticity and therapeutic resistance in melanoma. Genes Dev 31: 18– 33. 10.1101/gad.290940.116 28096186 PMC5287109 · DOI
  55. Fane ME, Chhabra Y, Smith AG, Sturm RA. 2019 BRN2, a POUerful driver of melanoma phenotype switching and metastasis. Pigment Cell Melanoma Res 32: 9– 24. 10.1111/pcmr.12710 29781575 · DOI
  56. Feige E, Yokoyama S, Levy C, Khaled M, Igras V, Lin RJ, Lee S, Widlund HR, Granter SR, Kung AL, 2011 Hypoxia-induced transcriptional repression of the melanoma-associated oncogene MITF. Proc Natl Acad Sci 108: E924– 933. 10.1073/pnas.1106351108 21949374 PMC3203758 · DOI
  57. Feng X, Degese MS, Iglesias-Bartolome R, Vaque JP, Molinolo AA, Rodrigues M, Zaidi MR, Ksander BR, Merlino G, Sodhi A, 2014 Hippo-independent activation of YAP by the GNAQ uveal melanoma oncogene through a trio-regulated rho GTPase signaling circuitry. Cancer Cell 25: 831– 845. 10.1016/j.ccr.2014.04.016 24882515 PMC4074519 · DOI
  58. Ferguson J, Smith M, Zudaire I, Wellbrock C, Arozarena I. 2017 Glucose availability controls ATF4-mediated MITF suppression to drive melanoma cell growth. Oncotarget 8: 32946– 32959. 10.18632/oncotarget.16514 28380427 PMC5464841 · DOI
  59. Fisher F, Crouch DH, Jayaraman PS, Clark W, Gillespie DA, Goding CR. 1993 Transcription activation by Myc and Max: flanking sequences target activation to a subset of CACGTG motifs in vivo. EMBO J 12: 5075– 5082. 10.1002/j.1460-2075.1993.tb06201.x 8262050 PMC413768 · DOI
  60. Fock V, Gudmundsson SR, Gunnlaugsson HO, Stefansson JA, Ionasz V, Schepsky A, Viarigi J, Reynisson IE, Pogenberg V, Wilmanns M, 2018 Subcellular localization and stability of MITF are modulated by the bHLH-zip domain. Pigment Cell Melanoma Res 32: 41– 54. 10.1111/pcmr.12721 29938923 PMC7611459 · DOI
  61. Frame S, Cohen P. 2001 GSK3 takes centre stage more than 20 years after its discovery. Biochem J 359: 1– 16. 10.1042/bj3590001 11563964 PMC1222116 · DOI
  62. Garraway LA, Widlund HR, Rubin MA, Getz G, Berger AJ, Ramaswamy S, Beroukhim R, Milner DA, Granter SR, Du J, 2005 Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma. Nature 436: 117– 122. 10.1038/nature03664 16001072 · DOI · Paper page
  63. George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, 2016 Biallelic mutations in MITF cause coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. Am J Hum Genet 99: 1388– 1394. 10.1016/j.ajhg.2016.11.004 27889061 PMC5142105 · DOI
  64. Goodall J, Martinozzi S, Dexter TJ, Champeval D, Carreira S, Larue L, Goding CR. 2004a Brn-2 expression controls melanoma proliferation and is directly regulated by β-catenin. Mol Cell Biol 24: 2915– 2922. 10.1128/MCB.24.7.2915-2922.2004 15024079 PMC371132 · DOI
  65. Goodall J, Wellbrock C, Dexter TJ, Roberts K, Marais R, Goding CR. 2004b The Brn-2 transcription factor links activated BRAF to melanoma proliferation. Mol Cell Biol 24: 2923– 2931. 10.1128/MCB.24.7.2923-2931.2004 15024080 PMC371133 · DOI
  66. Goodall J, Carreira S, Denat L, Kobi D, Davidson I, Nuciforo P, Sturm RA, Larue L, Goding CR. 2008 Brn-2 represses microphthalmia-associated transcription factor expression and marks a distinct subpopulation of microphthalmia-associated transcription factor-negative melanoma cells. Cancer Res 68: 7788– 7794. 10.1158/0008-5472.CAN-08-1053 18829533 · DOI
  67. Grill C, Bergsteinsdóttir K, Ögmundsdóttir MH, Pogenberg V, Schepsky A, Wilmanns M, Pingault V, Steingrimsson E. 2013 MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. Hum Mol Genet 22: 4357– 4367. 10.1093/hmg/ddt285 23787126 PMC3888191 · DOI
  68. Gyoja F. 2014 A genome-wide survey of bHLH transcription factors in the Placozoan Trichoplax adhaerens reveals the ancient repertoire of this gene family in metazoan. Gene 542: 29– 37. 10.1016/j.gene.2014.03.024 24631262 · DOI
  69. Haddad NM, Ente D, Chouery E, Jalkh N, Mehawej C, Khoueir Z, Pingault V, Mégarbané A. 2011 Molecular study of three Lebanese and Syrian patients with Waardenburg syndrome and report of novel mutations in the EDNRB and MITF genes. Mol Syndromol 1: 169– 175. 10.1159/000322891 21373256 PMC3042120 · DOI
  70. Haflidadóttir BS, Bergsteinsdóttir K, Praetorius C, Steingrímsson E. 2010 miR-148 regulates Mitf in melanoma cells. PLoS One 5: e11574 10.1371/journal.pone.0011574 20644734 PMC2904378 · DOI
  71. Hallsson JH, Haflidadóttir BS, Stivers C, Odenwald W, Arnheiter H, Pignoni F, Steingrimsson E. 2004 The basic helix–loop–helix leucine zipper transcription factor mitf is conserved in Drosophila and functions in eye development. Genetics 167: 233– 241. 10.1534/genetics.167.1.233 15166150 PMC1470875 · DOI
  72. Han S, Ren Y, He W, Liu H, Zhi Z, Zhu X, Yang T, Rong Y, Ma B, Purwin TJ, 2018 ERK-mediated phosphorylation regulates SOX10 sumoylation and targets expression in mutant BRAF melanoma. Nat Commun 9: 28 10.1038/s41467-017-02354-x 29295999 PMC5750221 · DOI
  73. Haq R, Shoag J, Andreu-Perez P, Yokoyama S, Edelman H, Rowe GC, Frederick DT, Hurley AD, Nellore A, Kung AL, 2013 Oncogenic BRAF regulates oxidative metabolism via PGC1α and MITF. Cancer Cell 23: 302– 315. 10.1016/j.ccr.2013.02.003 23477830 PMC3635826 · DOI · Paper page
  74. Harding HP, Zhang Y, Zeng H, Novoa I, Lu PD, Calfon M, Sadri N, Yun C, Popko B, Paules R, 2003 An integrated stress response regulates amino acid metabolism and resistance to oxidative stress. Mol Cell 11: 619– 633. 10.1016/S1097-2765(03)00105-9 12667446 · DOI
  75. Harris ML, Baxter LL, Loftus SK, Pavan WJ. 2010 Sox proteins in melanocyte development and melanoma. Pigment Cell Melanoma Res 23: 496– 513. 10.1111/j.1755-148X.2010.00711.x 20444197 PMC2906668 · DOI
  76. Hauswirth R, Haase B, Blatter M, Brooks SA, Burger D, Drögemüller C, Gerber V, Henke D, Janda J, Jude R, 2012 Mutations in MITF and PAX3 cause ‘splashed white’ and other white spotting phenotypes in horses. PLoS Genet 8: e1002653 10.1371/journal.pgen.1002653 22511888 PMC3325211 · DOI · Paper page
  77. Hejna M, Moon WM, Cheng J, Kawakami A, Fisher DE, Song JS. 2018 Local genomic features predict the distinct and overlapping binding patterns of the bHLH-zip family oncoproteins MITF and MYC–MAX. Pigment Cell Melanoma Res 10.1111/pcmr.12762. PMC6555698 30548162 · DOI
  78. Hemesath TJ, Steingrimsson E, McGill G, Hansen MJ, Vaught J, Hodgkinson CA, Arnheiter H, Copeland NG, Jenkins NA, Fisher DE. 1994 Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev 8: 2770– 2780. 10.1101/gad.8.22.2770 7958932 · DOI · Paper page
  79. Hemesath TJ, Price ER, Takemoto C, Badalian T, Fisher DE. 1998 MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes. Nature 391: 298– 301. 10.1038/34681 9440696 · DOI
  80. Herbert S, Binet R, Lambert J-P, Louphrasittthiphol P, Kalkavan H, Sesma Sanz L, Robles Espinoza CD, Sarkar S, Suer S, Andrews S, 2019 BRN2 suppresses apoptosis, reprograms DNA damage repair and is associated with a high somatic mutation burden in melanoma. Genes Dev 33: 310– 332. 10.1101/gad.314633.118 30804224 PMC6411009 · DOI
  81. Hodgkinson CA, Moore KJ, Nakayama A, Steingrimsson E, Copeland NG, Jenkins NA, Arnheiter H. 1993 Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix–loop–helix-zipper protein. Cell 74: 395– 404. 10.1016/0092-8674(93)90429-T 8343963 · DOI
  82. Hoek K, Goding CR. 2010 Cancer stem cells versus phenotype switching in melanoma. Pigment Cell Melanoma Res 23: 746– 759. 10.1111/j.1755-148X.2010.00757.x 20726948 · DOI
  83. Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, 2008 Novel MITF targets identified using a two-step DNA microarray strategy. Pigment Cell Melanoma Res 21: 665– 676. 10.1111/j.1755-148X.2008.00505.x 19067971 · DOI
  84. Hsu CL, Lee EX, Gordon KL, Paz EA, Shen WC, Ohnishi K, Meisenhelder J, Hunter T, La Spada AR. 2018 MAP4K3 mediates amino acid-dependent regulation of autophagy via phosphorylation of TFEB. Nat Commun 9: 942 10.1038/s41467-018-03340-7 29507340 PMC5838220 · DOI
  85. Huber WE, Price R, Widlund HR, Du J, Davis IJ, Wegner M, Fisher DE. 2003 A tissue restricted cAMP transcriptional response: SOX10 modulates MSH-triggered expression of MITF in melanocytes. J Biol Chem 278: 45224– 45230. 10.1074/jbc.M309036200 12944398 · DOI
  86. Inamura K. 2017 Translocation renal cell carcinoma: an update on clinicopathological and molecular features. Cancers (Basel) 9: E111 10.3390/cancers9090111. 28850056 PMC5615326 · DOI
  87. Jacquemin P, Lannoy VJ, O'Sullivan J, Read A, Lemaigre FP, Rousseau GG. 2001 The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene. Biochem Biophys Res Commun 285: 1200– 1205. 10.1006/bbrc.2001.5294 11478782 · DOI
  88. Javelaud D, Alexaki VI, Pierrat MJ, Hoek KS, Dennler S, van Kempen L, Bertolotto C, Ballotti R, Saule S, Delmas V, 2011 GLI2 and M-MITF control exclusive gene expression programs and inversely regulate invasion in human melanoma cells. Pigment Cell Melanoma Res 24: 932– 943. 10.1111/j.1755-148X.2011.00893.x 21801332 · DOI
  89. Kalkavan H, Green DR. 2018 MOMP, cell suicide as a BCL-2 family business. Cell Death Differ 25: 46– 55. 10.1038/cdd.2017.179 29053143 PMC5729535 · DOI
  90. Kamaraju AK, Bertolotto C, Chebath J, Revel M. 2002 Pax3 down-regulation and shut-off of melanogenesis in melanoma B16/F10.9 by interleukin-6 receptor signaling. J Biol Chem 277: 15132– 15141. 10.1074/jbc.M200004200 11830592 · DOI
  91. Knipscheer P, Flotho A, Klug H, Olsen JV, van Dijk WJ, Fish A, Johnson ES, Mann M, Sixma TK, Pichler A. 2008 Ubc9 sumoylation regulates SUMO target discrimination. Mol Cell 31: 371– 382. 10.1016/j.molcel.2008.05.022 18691969 · DOI
  92. Koludrovic D, Laurette P, Strub T, Keime C, Le Coz M, Coassolo S, Mengus G, Larue L, Davidson I. 2015 Chromatin-remodelling complex NURF is essential for differentiation of adult melanocyte stem cells. PLoS Genet 11: e1005555 10.1371/journal.pgen.1005555 26440048 PMC4595011 · DOI
  93. Krakowsky JM, Boissy RE, Neumann JC, Lingrel JB. 1993 A DNA insertional mutation results in microphthalmia in transgenic mice. Transgenic Res 2: 14– 20. 10.1007/BF01977676 8513335 · DOI
  94. Kuiper RP, Schepens M, Thijssen J, Schoenmakers EF, van Kessel AG. 2004 Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains. Nucleic Acids Res 32: 2315– 2322. 10.1093/nar/gkh571 15118077 PMC419459 · DOI
  95. Kunz M. 2013 MicroRNAs in melanoma biology. Adv Exp Med Biol 774: 103– 120. 10.1007/978-94-007-5590-1_6 23377970 · DOI
  96. Landsberg J, Kohlmeyer J, Renn M, Bald T, Rogava M, Cron M, Fatho M, Lennerz V, Wolfel T, Hölzel M, 2012 Melanomas resist T-cell therapy through inflammation-induced reversible dedifferentiation. Nature 490: 412– 416. 10.1038/nature11538 23051752 · DOI
  97. Lang D, Lu MM, Huang L, Engleka KA, Zhang M, Chu EY, Lipner S, Skoultchi A, Millar SE, Epstein JA. 2005 Pax3 functions at a nodal point in melanocyte stem cell differentiation. Nature 433: 884– 887. 10.1038/nature03292 15729346 · DOI · Paper page
  98. Larribere L, Hilmi C, Khaled M, Gaggioli C, Bille K, Auberger P, Ortonne JP, Ballotti R, Bertolotto C. 2005 The cleavage of microphthalmia-associated transcription factor, MITF, by caspases plays an essential role in melanocyte and melanoma cell apoptosis. Genes Dev 19: 1980– 1985. 10.1101/gad.335905 16140982 PMC1199569 · DOI
  99. La Spada AR. 2012 PPARGC1A/PGC-1α, TFEB and enhanced proteostasis in Huntington disease: defining regulatory linkages between energy production and protein-organelle quality control. Autophagy 8: 1845– 1847. 10.4161/auto.21862 22932698 PMC3541300 · DOI
  100. Laurette P, Strub T, Koludrovic D, Keime C, Le Gras S, Seberg H, Van Otterloo E, Imrichova H, Siddaway R, Aerts S, 2015 Transcription factor MITF and remodeller BRG1 define chromatin organisation at regulatory elements in melanoma cells. eLife 4: e06857 10.7554/eLife.06857 PMC4407272 25803486 · DOI
  101. Leclerc J, Garandeau D, Pandiani C, Gaudel C, Bille K, Nottet N, Garcia V, Colosetti P, Pagnotta S, Bahadoran P, 2019 Lysosomal acid ceramidase ASAH1 controls the transition between invasive and proliferative phenotype in melanoma cells. Oncogene 38: 1282– 1295. 10.1038/s41388-018-0500-0 30254208 · DOI
  102. Lee M, Goodall J, Verastegui C, Ballotti R, Goding CR. 2000 Direct regulation of the microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. J Biol Chem 275: 37978– 37983. 10.1074/jbc.M003816200 10973953 · DOI
  103. Lennartsson J, Rönnstrand L. 2012 Stem cell factor receptor/c-Kit: from basic science to clinical implications. Physiol Rev 92: 1619– 1649. 10.1152/physrev.00046.2011 23073628 · DOI
  104. Levy C, Nechushtan H, Razin E. 2002 A new role for the STAT3 inhibitor, PIAS3: a repressor of microphthalmia transcription factor. J Biol Chem 277: 1962– 1966. 10.1074/jbc.M109236200 11709556 · DOI
  105. Levy C, Sonnenblick A, Razin E. 2003 Role played by microphthalmia transcription factor phosphorylation and its zip domain in its transcriptional inhibition by PIAS3. Mol Cell Biol 23: 9073– 9080. 10.1128/MCB.23.24.9073-9080.2003 14645519 PMC309632 · DOI
  106. Levy C, Khaled M, Robinson KC, Veguilla RA, Chen PH, Yokoyama S, Makino E, Lu J, Larue L, Beermann F, 2010 Lineage-specific transcriptional regulation of DICER by MITF in melanocytes. Cell 141: 994– 1005. 10.1016/j.cell.2010.05.004 20550935 PMC2897150 · DOI
  107. Li KK, Goodall J, Goding CR, Liao SK, Wang CH, Lin YC, Hiraga H, Nojima T, Nagashima K, Schaefer KL, 2003 The melanocyte inducing factor MITF is stably expressed in cell lines from human clear cell sarcoma. Br J Cancer 89: 1072– 1078. 10.1038/sj.bjc.6601212 12966428 PMC2376962 · DOI
  108. Li Y, Xu M, Ding X, Yan C, Song Z, Chen L, Huang X, Wang X, Jian Y, Tang G, 2016 Protein kinase C controls lysosome biogenesis independently of mTORC1. Nat Cell Biol 18: 1065– 1077. 10.1038/ncb3407 27617930 · DOI
  109. Li L, Friedrichsen HJ, Andrews S, Picaud S, Volpon L, Ngeow K, Berridge G, Fischer R, Borden KLB, Filippakopoulos P, 2018 A TFEB nuclear export signal integrates amino acid supply and glucose availability. Nat Commun 9: 2685 10.1038/s41467-018-04849-7 29992949 PMC6041281 · DOI
  110. Loercher AE, Tank EM, Delston RB, Harbour JW. 2005 MITF links differentiation with cell cycle arrest in melanocytes by transcriptional activation of INK4A. J Cell Biol 168: 35– 40. 10.1083/jcb.200410115 15623583 PMC2171666 · DOI
  111. Lowings P, Yavuzer U, Goding CR. 1992 Positive and negative elements regulate a melanocyte-specific promoter. Mol Cell Biol 12: 3653– 3662. 10.1128/MCB.12.8.3653 1321344 PMC364632 · DOI
  112. Lu H, Fan Y, Qiao C, Liang W, Hu W, Zhu T, Zhang J, Chen YE. 2017 TFEB inhibits endothelial cell inflammation and reduces atherosclerosis. Sci Signal 10: eaah4214 10.1126/scisignal.aah4214. 28143903 · DOI
  113. Mahony CB, Fish RJ, Pasche C, Bertrand JY. 2016 tfec controls the hematopoietic stem cell vascular niche during zebrafish embryogenesis. Blood 128: 1336– 1345. 10.1182/blood-2016-04-710137 27402973 · DOI · Paper page
  114. Malcov-Brog H, Alpert A, Golan T, Parikh S, Nordlinger A, Netti F, Sheinboim D, Dror I, Thomas L, Cosson C, 2018 UV-protection timer controls linkage between stress and pigmentation skin protection systems. Mol Cell 72: 444– 456 e447. 10.1016/j.molcel.2018.09.022 30401431 PMC6224604 · DOI
  115. Mallarino R, Henegar C, Mirasierra M, Manceau M, Schradin C, Vallejo M, Beronja S, Barsh GS, Hoekstra HE. 2016 Developmental mechanisms of stripe patterns in rodents. Nature 539: 518– 523. 10.1038/nature20109 27806375 PMC5292240 · DOI
  116. Manderfield LJ, Engleka KA, Aghajanian H, Gupta M, Yang S, Li L, Baggs JE, Hogenesch JB, Olson EN, Epstein JA. 2014 Pax3 and hippo signaling coordinate melanocyte gene expression in neural crest. Cell Rep 9: 1885– 1895. 10.1016/j.celrep.2014.10.061 25466249 PMC4267159 · DOI
  117. Mansky KC, Sankar U, Han J, Ostrowski MC. 2002 Microphthalmia transcription factor is a target of the p38 MAPK pathway in response to receptor activator of NF-κB ligand signaling. J Biol Chem 277: 11077– 11083. 10.1074/jbc.M111696200 11792706 · DOI
  118. Mansueto G, Armani A, Viscomi C, D'Orsi L, De Cegli R, Polishchuk EV, Lamperti C, Di Meo I, Romanello V, Marchet S, 2016 Transcription factor EB controls metabolic flexibility during exercise. Cell Metab 25: 182– 196. 10.1016/j.cmet.2016.11.003 28011087 PMC5241227 · DOI · Paper page
  119. Margue C, Philippidou D, Reinsbach SE, Schmitt M, Behrmann I, Kreis S. 2013 New target genes of MITF-induced microRNA-211 contribute to melanoma cell invasion. PLoS One 8: e73473 10.1371/journal.pone.0073473 24039954 PMC3764006 · DOI
  120. Martina JA, Puertollano R. 2013 Rag GTPases mediate amino acid-dependent recruitment of TFEB and MITF to lysosomes. J Cell Biol 200: 475– 491. 10.1083/jcb.201209135 23401004 PMC3575543 · DOI
  121. Martina JA, Puertollano R. 2018 Protein phosphatase 2A stimulates activation of TFEB and TFE3 transcription factors in response to oxidative stress. J Biol Chem 293: 12525– 12534. 10.1074/jbc.RA118.003471 29945972 PMC6093222 · DOI
  122. Martina JA, Diab HI, Lishu L, Jeong AL, Patange S, Raben N, Puertollano R. 2014 The nutrient-responsive transcription factor TFE3 promotes autophagy, lysosomal biogenesis, and clearance of cellular debris. Sci Signal 7: ra9 10.1126/scisignal.2004754 24448649 PMC4696865 · DOI · Paper page
  123. Martina JAA, Diab HI, Brady OA, Puertollano R. 2016 TFEB and TFE3 are novel components of the integrated stress response. EMBO J 35: 479– 495. 10.15252/embj.201593428 26813791 PMC4772850 · DOI · Paper page
  124. Masliah-Planchon J, Bieche I, Guinebretière JM, Bourdeaut F, Delattre O. 2015 SWI/SNF chromatin remodeling and human malignancies. Annu Rev Pathol 10: 145– 171. 10.1146/annurev-pathol-012414-040445 25387058 · DOI
  125. McGill GG, Horstmann M, Widlund HR, Du J, Motyckova G, Nishimura EK, Lin YL, Ramaswamy S, Avery W, Ding HF, 2002 Bcl2 regulation by the melanocyte master regulator mitf modulates lineage survival and melanoma cell viability. Cell 109: 707– 718. 10.1016/S0092-8674(02)00762-6 12086670 · DOI
  126. McGill GG, Haq R, Nishimura EK, Fisher DE. 2006 c-Met expression is regulated by Mitf in the melanocyte lineage. J Biol Chem 281: 10365– 10373. 10.1074/jbc.M513094200 16455654 · DOI
  127. Medic S, Ziman M. 2010 PAX3 expression in normal skin melanocytes and melanocytic lesions (naevi and melanomas). PLoS One 5: e9977 10.1371/journal.pone.0009977 20421967 PMC2858648 · DOI
  128. Medina DL, Di Paola S, Peluso I, Armani A, De Stefani D, Venditti R, Montefusco S, Scotto-Rosato A, Prezioso C, Forrester A, 2015 Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB. Nat Cell Biol 17: 288– 299. 10.1038/ncb3114 25720963 PMC4801004 · DOI
  129. Meng Z, Moroishi T, Guan KL. 2016 Mechanisms of hippo pathway regulation. Genes Dev 30: 1– 17. 10.1101/gad.274027.115 26728553 PMC4701972 · DOI · Paper page
  130. Miller AJ, Du J, Rowan S, Hershey CL, Widlund HR, Fisher DE. 2004 Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma. Cancer Res 64: 509– 516. 10.1158/0008-5472.CAN-03-2440 14744763 · DOI
  131. Miller AJ, Levy C, Davis IJ, Razin E, Fisher DE. 2005 Sumoylation of MITF and its related family members TFE3 and TFEB. J Biol Chem 280: 146– 155. 10.1074/jbc.M411757200 15507434 · DOI
  132. Miskolczi Z, Smith MP, Rowling EJ, Ferguson J, Barriuso J, Wellbrock C. 2018 Collagen abundance controls melanoma phenotypes through lineage-specific microenvironment sensing. Oncogene 37: 3166– 3182. 10.1038/s41388-018-0209-0 29545604 PMC5992128 · DOI
  133. Moller K, Sigurbjornsdottir S, Arnthorsson AO, Pogenberg V, Dilshat R, Fock V, Brynjolfsdottir SH, Bindesboll C, Bessadottir M, Ogmundsdottir HM, 2019 MITF has a central role in regulating starvation-induced autophagy in melanoma. Sci Rep 9: 1055 10.1038/s41598-018-37522-6 30705290 PMC6355916 · DOI
  134. Morii E, Oboki K. 2004 MITF is necessary for generation of prostaglandin D2 in mouse mast cells. J Biol Chem 279: 48923– 48929. 10.1074/jbc.M407026200 15375155 · DOI
  135. Motzik A, Amir E, Erlich T, Wang J, Kim BG, Han JM, Kim JH, Nechushtan H, Guo M, Razin E, 2017 Post-translational modification of HINT1 mediates activation of MITF transcriptional activity in human melanoma cells. Oncogene 36: 4732– 4738. 10.1038/onc.2017.81 28394346 · DOI
  136. Murakami H, Arnheiter H. 2005 Sumoylation modulates transcriptional activity of MITF in a promoter-specific manner. Pigment Cell Res 18: 265– 277. 10.1111/j.1600-0749.2005.00234.x 16029420 PMC1351050 · DOI
  137. Nakayama A, Nguyen MT, Chen CC, Opdecamp K, Hodgkinson CA, Arnheiter H. 1998 Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. Mech Dev 70: 155– 166. 10.1016/S0925-4773(97)00188-3 9510032 · DOI
  138. Ngeow KC, Friedrichsen HJ, Li L, Zeng Z, Andrews S, Volpon L, Brunsdon H, Berridge G, Picaud S, Fischer R, 2018 BRAF/MAPK and GSK3 signaling converges to control MITF nuclear export. Proc Natl Acad Sci 115: E8668– 8677. 10.1073/pnas.1810498115 30150413 PMC6140509 · DOI
  139. Nishimura EK, Suzuki M, Igras V, Du J, Lonning S, Miyachi Y, Roes J, Beermann F, Fisher DE. 2010 Key roles for transforming growth factor β in melanocyte stem cell maintenance. Cell Stem Cell 6: 130– 140. 10.1016/j.stem.2009.12.010 20144786 PMC3437996 · DOI
  140. Ohanna M, Bonet C, Bille K, Allegra M, Davidson I, Bahadoran P, Lacour JP, Ballotti R, Bertolotto C. 2014 SIRT1 promotes proliferation and inhibits the senescence-like phenotype in human melanoma cells. Oncotarget 5: 2085– 2095. 10.18632/oncotarget.1791 24742694 PMC4039147 · DOI
  141. Opdecamp K, Nakayama A, Nguyen MT, Hodgkinson CA, Pavan WJ, Arnheiter H. 1997 Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix–loop–helix-zipper transcription factor. Development 124: 2377– 2386. 9199364
  142. Ozturk DG, Kocak M, Akcay A, Kinoglu K, Kara E, Buyuk Y, Kazan H, Gozuacik D. 2018 MITF-MIR211 axis is a novel autophagy amplifier system during cellular stress. Autophagy 15: 375– 390. 10.1080/15548627.2018.1531197 30290719 PMC6351134 · DOI
  143. Pakos-Zebrucka K, Koryga I, Mnich K, Ljujic M, Samali A, Gorman AM. 2016 The integrated stress response. EMBO Rep 17: 1374– 1395. 10.15252/embr.201642195 27629041 PMC5048378 · DOI · Paper page
  144. Palmieri M, Pal R, Nelvagal HR, Lotfi P, Stinnett GR, Seymour ML, Chaudhury A, Bajaj L, Bondar VV, Bremner L, 2017 mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases. Nat Commun 8: 14338 10.1038/ncomms14338 28165011 PMC5303831 · DOI
  145. Pérez-Guijarro E, Karras P, Cifdaloz M, Martinez-Herranz R, Canon E, Grana O, Horcajada-Reales C, Alonso-Curbelo D, Calvo TG, Gomez-Lopez G, 2016 Lineage-specific roles of the cytoplasmic polyadenylation factor CPEB4 in the regulation of melanoma drivers. Nat Commun 7: 13418 10.1038/ncomms13418 27857118 PMC5120223 · DOI
  146. Phelep A, Laouari D, Bharti K, Burtin M, Tammaccaro S, Garbay S, Nguyen C, Vasseur F, Blanc T, Berissi S, 2017 MITF-A controls branching morphogenesis and nephron endowment. PLoS Genet 13: e1007093 10.1371/journal.pgen.1007093 29240767 PMC5746285 · DOI
  147. Phung B, Kazi JU, Lundby A, Bergsteinsdottir K, Sun J, Goding CR, Jonsson G, Olsen JV, Steingrimsson E, Ronnstrand L. 2017 KIT(D816V) induces SRC-mediated tyrosine phosphorylation of MITF and altered transcription program in melanoma. Mol Cancer Res 15: 1265– 1274. 10.1158/1541-7786.MCR-17-0149 28584020 · DOI
  148. Pierrat MJ, Marsaud V, Mauviel A, Javelaud D. 2012 Expression of microphthalmia-associated transcription factor (MITF), which is critical for melanoma progression, is inhibited by both transcription factor GLI2 and transforming growth factor-β. J Biol Chem 287: 17996– 18004. 10.1074/jbc.M112.358341 22496449 PMC3365743 · DOI
  149. Pogenberg V, Ogmundsdottir MH, Bergsteinsdottir K, Schepsky A, Phung B, Deineko V, Milewski M, Steingrimsson E, Wilmanns M. 2012 Restricted leucine zipper dimerization and specificity of DNA recognition of the melanocyte master regulator MITF. Genes Dev 26: 2647– 2658. 10.1101/gad.198192.112 23207919 PMC3521630 · DOI · Paper page
  150. Potterf SB, Mollaaghababa R, Hou L, Southard-Smith EM, Hornyak TJ, Arnheiter H, Pavan WJ. 2001 Analysis of SOX10 function in neural crest-derived melanocyte development: SOX10-dependent transcriptional control of dopachrome tautomerase. Dev Biol 237: 245– 257. 10.1006/dbio.2001.0372 11543611 · DOI
  151. Price ER, Ding H-F, Badalian T, Bhattacharya S, Takemoto C, Yao T-P, Hemesath TJ, Fisher DE. 1998a Lineage-specific signalling in melanocytes: c-Kit stimulation recruits p300/CBP to microphthalmia. J Biol Chem 273: 17983– 17986. 10.1074/jbc.273.29.17983 9660747 · DOI
  152. Price ER, Horstmann MA, Wells AG, Weilbeacher KN, Takemoto CM, Landis MW, Fisher DE. 1998b α-Melanocyte-stimulating hormone signaling regulates expression if microphthalmia, a gene deficient in Waardenburg syndrome. J Biol Chem 273: 33042– 33047. 10.1074/jbc.273.49.33042 9830058 · DOI
  153. Primot A, Mogha A, Corre S, Roberts K, Debbache J, Adamski H, Dreno B, Khammari A, Lesimple T, Mereau A, 2010 ERK-regulated differential expression of the Mitf 6a/b splicing isoforms in melanoma. Pigment Cell Melanoma Res 23: 93– 102. 10.1111/j.1755-148X.2009.00652.x 19895547 · DOI
  154. Puertollano R, Ferguson SM, Brugarolas J, Ballabio A. 2018 The complex relationship between TFEB transcription factor phosphorylation and subcellular localization. EMBO J 37: E98804 10.15252/embj.201798804 29764979 PMC5983138 · DOI
  155. Qian H, Yang C, Yang Y. 2017 MicroRNA-26a inhibits the growth and invasiveness of malignant melanoma and directly targets on MITF gene. Cell Death Discov 3: 17028 10.1038/cddiscovery.2017.28 28698805 PMC5502303 · DOI
  156. Rabbani P, Takeo M, Chou W, Myung P, Bosenberg M, Chin L, Taketo MM, Ito M. 2011 Coordinated activation of Wnt in epithelial and melanocyte stem cells initiates pigmented hair regeneration. Cell 145: 941– 955. 10.1016/j.cell.2011.05.004 21663796 PMC3962257 · DOI
  157. Rauschendorf MA, Zimmer AD, Laut A, Demmer P, Rosler B, Happle R, Sartori S, Fischer J. 2019 Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A. Pigment Cell Melanoma Res 32: 85– 89. 10.1111/pcmr.12733 30117279 · DOI
  158. Razin E, Zhang ZC, Nechushtan H, Frenkel S, Lee YN, Arudchandran R, Rivera J. 1999 Suppression of microphthalmia transcriptional activity by its association with protein kinase C-interacting protein 1 in mast cells. J Biol Chem 274: 34272– 34276. 10.1074/jbc.274.48.34272 10567402 · DOI
  159. Realini N, Palese F, Pizzirani D, Pontis S, Basit A, Bach A, Ganesan A, Piomelli D. 2016 Acid ceramidase in melanoma: expression, localization and effects of pharmacological inhibition. J Biol Chem 291: 2422– 2434. 10.1074/jbc.M115.666909 26553872 PMC4732224 · DOI
  160. Rehli M, Lichanska A, Cassady AI, Ostrowski MC, Hume DA. 1999 TFEC is a macrophage-restricted member of the microphthalmia-TFE subfamily of basic helix–loop–helix leucine zipper transcription factors. J Immunol 162: 1559– 1565. 9973413
  161. Riesenberg S, Groetchen A, Siddaway R, Bald T, Reinhardt J, Smorra D, Kohlmeyer J, Renn M, Phung B, Aymans P, 2015 MITF and c-Jun antagonism interconnects melanoma dedifferentiation with pro-inflammatory cytokine responsiveness and myeloid cell recruitment. Nat Commun 6: 8755 10.1038/ncomms9755 26530832 PMC4659938 · DOI
  162. Roczniak-Ferguson A, Petit CS, Froehlich F, Qian S, Ky J, Angarola B, Walther TC, Ferguson SM. 2012 The transcription factor TFEB links mTORC1 signaling to transcriptional control of lysosome homeostasis. Sci Signal 5: ra42 10.1126/scisignal.2002790 22692423 PMC3437338 · DOI
  163. Rubinfeld B, Robbins P, El-Gamil M, Albert I, Porfiri E, Polakis P. 1997 Stabilization of β-catenin by genetic defects in melanoma cell lines. Science 275: 1790– 1792. 10.1126/science.275.5307.1790 9065403 · DOI
  164. Saladi SV, Wong PG, Trivedi AR, Marathe HG, Keenen B, Aras S, Liew ZQ, Setaluri V, de la Serna IL. 2013 BRG1 promotes survival of UV-irradiated melanoma cells by cooperating with MITF to activate the melanoma inhibitor of apoptosis gene. Pigment Cell Melanoma Res 26: 377– 391. 10.1111/pcmr.12088 23480510 PMC3633630 · DOI
  165. Sato S, Roberts K, Gambino G, Cook A, Kouzarides T, Goding CR. 1997 CBP/p300 as a co-factor for the Microphthalmia transcription factor. Oncogene 14: 3083– 3092. 10.1038/sj.onc.1201298 9223672 · DOI
  166. Schepsky A, Bruser K, Gunnarsson GJ, Goodall J, Hallsson JH, Goding CR, Steingrimsson E, Hecht A. 2006 The microphthalmia-associated transcription factor Mitf interacts with β-catenin to determine target gene expression. Mol Cell Biol 26: 8914– 8927. 10.1128/MCB.02299-05 17000761 PMC1636837 · DOI
  167. Seberg HE, Van Otterloo E, Cornell RA. 2017 Beyond MITF: Multiple transcription factors directly regulate the cellular phenotype in melanocytes and melanoma. Pigment Cell Melanoma Res 30: 454– 466. 10.1111/pcmr.12611 28649789 PMC5939569 · DOI
  168. Seoane M, Buhs S, Iglesias P, Strauss J, Puller AC, Müller J, Gerull H, Feldhaus S, Alawi M, Brandner JM, 2019 Lineage-specific control of TFIIH by MITF determines transcriptional homeostasis and DNA repair. Oncogene 10.1038/s41388-018-0661-x. PMC6756118 30651597 · DOI
  169. Settembre C, Medina DL. 2015 TFEB and the CLEAR network. Methods Cell Biol 126: 45– 62. 10.1016/bs.mcb.2014.11.011 25665440 · DOI
  170. Settembre C, Zoncu R, Medina DL, Vetrini F, Erdin S, Erdin S, Huynh T, Ferron M, Karsenty G, Vellard MC, 2012 A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB. EMBO J 31: 1095– 1108. 10.1038/emboj.2012.32 22343943 PMC3298007 · DOI
  171. Settembre C, De Cegli R, Mansueto G, Saha PK, Vetrini F, Visvikis O, Huynh T, Carissimo A, Palmer D, Klisch TJ, 2013 TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop. Nat Cell Biol 15: 647– 658. 10.1038/ncb2718 23604321 PMC3699877 · DOI · Paper page
  172. Shoag J, Haq R, Zhang M, Liu L, Rowe GC, Jiang A, Koulisis N, Farrel C, Amos CI, Wei Q, 2013 PGC-1 coactivators regulate MITF and the tanning response. Mol Cell 49: 145– 157. 10.1016/j.molcel.2012.10.027 23201126 PMC3753666 · DOI
  173. Simionato E, Ledent V, Richards G, Thomas-Chollier M, Kerner P, Coornaert D, Degnan BM, Vervoort M. 2007 Origin and diversification of the basic helix–loop–helix gene family in metazoans: insights from comparative genomics. BMC Evol Biol 7: 33 10.1186/1471-2148-7-33 17335570 PMC1828162 · DOI
  174. Smith MP, Rana S, Ferguson J, Rowling EJ, Flaherty KT, Wargo JA, Marais R, Wellbrock C. 2018 A PAX3/BRN2 rheostat controls the dynamics of BRAF mediated MITF regulation in MITFhigh/AXLlow melanoma. Pigment Cell Melanoma Res 32: 280– 291. 10.1111/pcmr.12741 30277012 PMC6392120 · DOI
  175. Solomon DL, Amati B, Land H. 1993 Distinct DNA binding preferences for the c-Myc/Max and Max/Max dimers. Nucleic Acids Res 21: 5372– 5376. 10.1093/nar/21.23.5372 8265351 PMC310573 · DOI
  176. Steingrímsson E, Moore KJ, Lamoreux ML, Ferré-D'Amaré AR, Burley SK, Zimring DC, Skow LC, Hodgkinson CA, Arnheiter H, Copeland NG, 1994 Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nat Genet 8: 256– 263. 10.1038/ng1194-256 7874168 · DOI
  177. Steingrímsson E, Copeland NG, Jenkins NA. 2004 Melanocytes and the microphthalmia transcription factor network. Annu Rev Genet 38: 365– 411. 10.1146/annurev.genet.38.072902.092717 15568981 · DOI
  178. Strub T, Giuliano S, Ye T, Bonet C, Keime C, Kobi D, Le Gras S, Cormont M, Ballotti R, Bertolotto C, 2011 Essential role of microphthalmia transcription factor for DNA replication, mitosis and genomic stability in melanoma. Oncogene 30: 2319– 2332. 10.1038/onc.2010.612 21258399 · DOI · Paper page
  179. Suzuki T, Osumi N, Wakamatsu Y. 2010 Stabilization of ATF4 protein is required for the regulation of epithelial-mesenchymal transition of the avian neural crest. Dev Biol 344: 658– 668. 10.1016/j.ydbio.2010.05.492 20580702 · DOI
  180. Tachibana M, Hara Y, Vyas D, Hodgkinson C, Fex J, Grundfast K, Arnheiter H. 1992 Cochlear disorder associated with melanocyte anomaly in mice with a transgenic insertional mutation. Mol Cell Neurosci 3: 433– 445. 10.1016/1044-7431(92)90055-7 19912887 · DOI
  181. Takebayashi K, Chida K, Tsukamoto I, Morii E, Munakata H, Arnheiter H, Kuroki T, Kitamura Y, Nomura S. 1996 The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential. Mol Cell Biol 16: 1203– 1211. 10.1128/MCB.16.3.1203 8622664 PMC231102 · DOI
  182. Takeda K, Takemoto C, Kobayashi I, Watanabe A, Nobukuni Y, Fisher DE, Tachibana M. 2000a Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. Hum Mol Genet 9: 125– 132. 10.1093/hmg/9.1.125 10587587 · DOI
  183. Takeda K, Yasumoto K, Takada R, Takada S, Watanabe K, Udono T, Saito H, Takahashi K, Shibahara S. 2000b Induction of melanocyte-specific microphthalmia-associated transcription factor by Wnt-3a. J Biol Chem 275: 14013– 14016. 10.1074/jbc.C000113200 10747853 · DOI
  184. Takeda K, Yasumoto K, Kawaguchi N, Udono T, Watanabe K, Saito H, Takahashi K, Noda M, Shibahara S. 2002 Mitf-D, a newly identified isoform, expressed in the retinal pigment epithelium and monocyte-lineage cells affected by Mitf mutations. Biochim Biophys Acta 1574: 15– 23. 10.1016/S0167-4781(01)00339-6 11955610 · DOI
  185. Takeda K, Hozumi H, Nakai K, Yoshizawa M, Satoh H, Yamamoto H, Shibahara S. 2014 Insertion of long interspersed element-1 in the Mitf gene is associated with altered neurobehavior of the black-eyed white Mitf(mi-bw) mouse. Genes Cells 19: 126– 140. 10.1111/gtc.12117 24304702 · DOI
  186. Taniguchi M, Nadanaka S, Tanakura S, Sawaguchi S, Midori S, Kawai Y, Yamaguchi S, Shimada Y, Nakamura Y, Matsumura Y, 2015 TFE3 is a bHLH-ZIP-type transcription factor that regulates the mammalian golgi stress response. Cell Struct Funct 40: 13– 30. 10.1247/csf.14015 25399611 · DOI
  187. Tassabehji M, Newton VE, Read AP. 1994 Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 8: 251– 255. 10.1038/ng1194-251 7874167 · DOI
  188. Taylor KL, Lister JA, Zeng Z, Ishizaki H, Anderson C, Kelsh RN, Jackson IJ, Patton EE. 2011 Differentiated melanocyte cell division occurs in vivo and is promoted by mutations in Mitf. Development 138: 3579– 3589. 10.1242/dev.064014 21771814 PMC3143570 · DOI
  189. ten Berge D, Brouwer A, el Bahi S, Guénet JL, Robert B, Meijlink F. 1998 Mouse Alx3: an aristaless-like homeobox gene expressed during embryogenesis in ectomesenchyme and lateral plate mesoderm. Dev Biol 199: 11– 25. 10.1006/dbio.1998.8921 9676189 · DOI
  190. Thomas AJ, Erickson CA. 2009 FOXD3 regulates the lineage switch between neural crest-derived glial cells and pigment cells by repressing MITF through a non-canonical mechanism. Development 136: 1849– 1858. 10.1242/dev.031989 19403660 PMC2680109 · DOI · Paper page
  191. Thurber AE, Douglas G, Sturm EC, Zabierowski SE, Smit DJ, Ramakrishnan SN, Hacker E, Leonard JH, Herlyn M, Sturm RA. 2011 Inverse expression states of the BRN2 and MITF transcription factors in melanoma spheres and tumour xenografts regulate the NOTCH pathway. Oncogene 30: 3036– 3048. 10.1038/onc.2011.33 21358674 PMC3591523 · DOI
  192. Tuncer E, Calçada RR, Zingg D, Varum S, Cheng P, Freiberger SN, Deng C-X, Kleiter I, Levesque MP, Dummer, R 2019 SMAD signaling promotes melanoma metastasis independently of phenotype switching. J Clin Invest 10.1172/JCI94295 PMC6597210 31039140 · DOI
  193. Ullrich N, Löffek S, Enne M, Sánchez-del-Campo L, Zhao F, Breitenbuecher F, Davidson I, Singer BB, Schadendorf D, Goding CR, 2015 MITF is a critical regulator of the carcinoembryonic antigen-related cell adhesion molecule 1 (CEACAM1) in malignant melanoma. Pigment Cell Melanoma Res 28: 736– 740. 10.1111/pcmr.12414 26301891 · DOI
  194. Vazquez F, Lim JH, Chim H, Bhalla K, Girnun G, Pierce K, Clish CB, Granter SR, Widlund HR, Spiegelman BM, 2013 PGC1α expression defines a subset of human melanoma tumors with increased mitochondrial capacity and resistance to oxidative stress. Cancer Cell 23: 287– 301. 10.1016/j.ccr.2012.11.020 23416000 PMC3708305 · DOI · Paper page
  195. Vega-Rubin-de-Celis S, Peña-Llopis S, Konda M, Brugarolas J. 2017 Multistep regulation of TFEB by MTORC1. Autophagy 13: 464– 472. 10.1080/15548627.2016.1271514 28055300 PMC5361595 · DOI
  196. Verastegui C, Bille K, Ortonne JP, Ballotti R. 2000 Regulation of the microphthalmia-associated transcription factor gene by the waardenburg syndrome type 4 gene, SOX10. J Biol Chem 275: 30757– 30760. 10.1074/jbc.C000445200 10938265 · DOI
  197. Vlčková K, Vachtenheim J, Réda J, Horák P, Ondrušová L. 2018 Inducibly decreased MITF levels do not affect proliferation and phenotype switching but reduce differentiation of melanoma cells. J Cell Mol Med 22: 2240– 2251. 10.1111/jcmm.13506 29369499 PMC5867098 · DOI
  198. Vucic D, Stennicke HR, Pisabarro MT, Salvesen GS, Dixit VM. 2000 ML-IAP, a novel inhibitor of apoptosis that is preferentially expressed in human melanomas. Curr Biol 10: 1359– 1366. 10.1016/S0960-9822(00)00781-8 11084335 · DOI
  199. Wang C, Zhao L, Su Q, Fan X, Wang Y, Gao S, Wang H, Chen H, Chan CB, Liu Z. 2016 Phosphorylation of MITF by AKT affects its downstream targets and causes TP53-dependent cell senescence. Int J Biochem Cell Biol 80: 132– 142. 10.1016/j.biocel.2016.09.029 27702651 · DOI
  200. Webster DE, Barajas B, Bussat RT, Yan KJ, Neela PH, Flockhart RJ, Kovalski J, Zehnder A, Khavari PA. 2014 Enhancer-targeted genome editing selectively blocks innate resistance to oncokinase inhibition. Genome Res 24: 751– 760. 10.1101/gr.166231.113 24443471 PMC4009605 · DOI

200 of 219 shown

Cited by

Sorted by citations

Authors
Goding, C. R., & Arnheiter, H.
Affiliations
  • University of Oxford (GB)
  • National Institutes of Health (US)
Venue
Genes & Development
Published
2019-05-23
Volume
33
Issue
15-16
Pages
983-1007
ISSN
  • 0890-9369 (ISSN-L)
  • 1549-5477
OpenAlex
W2945954586
Cited by
430
References
11
Citations by year
2026: 38 · 2025: 63 · 2024: 66 · 2023: 67 · 2022: 58 · 2021: 79 · 2020: 45 · 2019: 14
Type
posted content
Language
en
Open access
Licence
cc-by-nc
Locations
  • Genes & Development (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • HighWire Press Open Archive (submittedVersion)
Funders
  • Ludwig Institute for Cancer Research
  • National Institutes of Health (PO1 CA128814-06A1)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Melanoma and MAPK Pathways
  • Health Sciences › Medicine › Oncology › Cutaneous Melanoma Detection and Management
Keywords
MITF, microphthalmia-associated transcription factor, melanocytes, melanoma, transcription factors, TFEB, TFE3, transcriptional regulation, melanocyte differentiation, cell proliferation, DNA repair, senescence, melanocyte development
MeSH terms
Animals, Humans, Melanocytes, Melanoma, Protein Binding, Gene Expression Regulation, Neoplastic, Genome, Protein Isoforms, Microphthalmia-Associated Transcription Factor, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review