Mitf

Summary

Gene Symbol: Mitf
Description: melanogenesis associated transcription factor
Alias: BCC2, Bhlhe32, Gsfbcc2, Vitiligo, vit, microphthalmia-associated transcription factor, black eyed white, microphtalmia-associated transcription factor
Species: mouse
Products:     Mitf

Top Publications

  1. Hodgkinson C, Moore K, Nakayama A, Steingrimsson E, Copeland N, Jenkins N, et al. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell. 1993;74:395-404 pubmed
    ..The multiple spontaneous and induced mutations available at mi provide a unique biological resource for studying the role of a bHLH-ZIP protein in mammalian development. ..
  2. Zhang J, Zhao H, Chen J, Xia B, Jin Y, Wei W, et al. Interferon-?-induced miR-155 inhibits osteoclast differentiation by targeting SOCS1 and MITF. FEBS Lett. 2012;586:3255-62 pubmed publisher
    ..IFN-?-induced miRNA, mediated the suppressive effect of IFN-? on osteoclast differentiation by targeting SOCS1 and MITF, two essential regulators of osteoclastogenesis...
  3. Carreira S, Goodall J, Aksan I, La Rocca S, Galibert M, Denat L, et al. Mitf cooperates with Rb1 and activates p21Cip1 expression to regulate cell cycle progression. Nature. 2005;433:764-9 pubmed
    ..The microphthalmia-associated transcription factor Mitf has a crucial but poorly defined role in melanoblast and melanocyte survival and in differentiation...
  4. Hershey C, Fisher D. Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform. Gene. 2005;347:73-82 pubmed
    ..Waardenburg Syndrome Type 2 is caused by mutations in the human Microphthalmia-associated transcription factor (MITF) gene...
  5. Morii E, Ogihara H, Kim D, Ito A, Oboki K, Lee Y, et al. Importance of leucine zipper domain of mi transcription factor (MITF) for differentiation of mast cells demonstrated using mi(ce)/mi(ce) mutant mice of which MITF lacks the zipper domain. Blood. 2001;97:2038-44 pubmed
    The mi transcription factor (MITF) is a basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factor that is important for the development of mast cells...
  6. Britsch S, Goerich D, Riethmacher D, Peirano R, Rossner M, Nave K, et al. The transcription factor Sox10 is a key regulator of peripheral glial development. Genes Dev. 2001;15:66-78 pubmed
    ..Haploinsufficiency of Sox10 can thus cause pigmentation and megacolon defects, which are also observed in Sox10(Dom)/+ mice and in patients with Waardenburg-Hirschsprung disease caused by heterozygous SOX10 mutations. ..
  7. Pham L, Kaiser B, Romsa A, Schwarz T, Gopalakrishnan R, Jensen E, et al. HDAC3 and HDAC7 have opposite effects on osteoclast differentiation. J Biol Chem. 2011;286:12056-65 pubmed publisher
    ..b>Mitf, a transcription factor, is necessary for osteoclast differentiation...
  8. Mansky K, Sankar U, Han J, Ostrowski M. Microphthalmia transcription factor is a target of the p38 MAPK pathway in response to receptor activator of NF-kappa B ligand signaling. J Biol Chem. 2002;277:11077-83 pubmed
    ..The microphthalmia transcription factor (MITF) is required for terminal differentiation of osteoclasts...
  9. Saito H, Yasumoto K, Takeda K, Takahashi K, Yamamoto H, Shibahara S. Microphthalmia-associated transcription factor in the Wnt signaling pathway. Pigment Cell Res. 2003;16:261-5 pubmed
    Microphthalmia-associated transcription factor (MITF) contains a basic helix-loop-helix and leucine-zipper (bHLH-LZ) structure and consists of many isoforms with different N-termini...
  10. Nishimura E, Granter S, Fisher D. Mechanisms of hair graying: incomplete melanocyte stem cell maintenance in the niche. Science. 2005;307:720-4 pubmed
    ..Furthermore, physiologic aging of melanocyte stem cells was associated with ectopic pigmentation or differentiation within the niche, a process accelerated by mutation of the melanocyte master transcriptional regulator Mitf.

Detail Information

Publications88

  1. Hodgkinson C, Moore K, Nakayama A, Steingrimsson E, Copeland N, Jenkins N, et al. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell. 1993;74:395-404 pubmed
    ..The multiple spontaneous and induced mutations available at mi provide a unique biological resource for studying the role of a bHLH-ZIP protein in mammalian development. ..
  2. Zhang J, Zhao H, Chen J, Xia B, Jin Y, Wei W, et al. Interferon-?-induced miR-155 inhibits osteoclast differentiation by targeting SOCS1 and MITF. FEBS Lett. 2012;586:3255-62 pubmed publisher
    ..IFN-?-induced miRNA, mediated the suppressive effect of IFN-? on osteoclast differentiation by targeting SOCS1 and MITF, two essential regulators of osteoclastogenesis...
  3. Carreira S, Goodall J, Aksan I, La Rocca S, Galibert M, Denat L, et al. Mitf cooperates with Rb1 and activates p21Cip1 expression to regulate cell cycle progression. Nature. 2005;433:764-9 pubmed
    ..The microphthalmia-associated transcription factor Mitf has a crucial but poorly defined role in melanoblast and melanocyte survival and in differentiation...
  4. Hershey C, Fisher D. Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform. Gene. 2005;347:73-82 pubmed
    ..Waardenburg Syndrome Type 2 is caused by mutations in the human Microphthalmia-associated transcription factor (MITF) gene...
  5. Morii E, Ogihara H, Kim D, Ito A, Oboki K, Lee Y, et al. Importance of leucine zipper domain of mi transcription factor (MITF) for differentiation of mast cells demonstrated using mi(ce)/mi(ce) mutant mice of which MITF lacks the zipper domain. Blood. 2001;97:2038-44 pubmed
    The mi transcription factor (MITF) is a basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factor that is important for the development of mast cells...
  6. Britsch S, Goerich D, Riethmacher D, Peirano R, Rossner M, Nave K, et al. The transcription factor Sox10 is a key regulator of peripheral glial development. Genes Dev. 2001;15:66-78 pubmed
    ..Haploinsufficiency of Sox10 can thus cause pigmentation and megacolon defects, which are also observed in Sox10(Dom)/+ mice and in patients with Waardenburg-Hirschsprung disease caused by heterozygous SOX10 mutations. ..
  7. Pham L, Kaiser B, Romsa A, Schwarz T, Gopalakrishnan R, Jensen E, et al. HDAC3 and HDAC7 have opposite effects on osteoclast differentiation. J Biol Chem. 2011;286:12056-65 pubmed publisher
    ..b>Mitf, a transcription factor, is necessary for osteoclast differentiation...
  8. Mansky K, Sankar U, Han J, Ostrowski M. Microphthalmia transcription factor is a target of the p38 MAPK pathway in response to receptor activator of NF-kappa B ligand signaling. J Biol Chem. 2002;277:11077-83 pubmed
    ..The microphthalmia transcription factor (MITF) is required for terminal differentiation of osteoclasts...
  9. Saito H, Yasumoto K, Takeda K, Takahashi K, Yamamoto H, Shibahara S. Microphthalmia-associated transcription factor in the Wnt signaling pathway. Pigment Cell Res. 2003;16:261-5 pubmed
    Microphthalmia-associated transcription factor (MITF) contains a basic helix-loop-helix and leucine-zipper (bHLH-LZ) structure and consists of many isoforms with different N-termini...
  10. Nishimura E, Granter S, Fisher D. Mechanisms of hair graying: incomplete melanocyte stem cell maintenance in the niche. Science. 2005;307:720-4 pubmed
    ..Furthermore, physiologic aging of melanocyte stem cells was associated with ectopic pigmentation or differentiation within the niche, a process accelerated by mutation of the melanocyte master transcriptional regulator Mitf.
  11. Smith A, Miller L, Radice G, Ashery Padan R, Lang R. Stage-dependent modes of Pax6-Sox2 epistasis regulate lens development and eye morphogenesis. Development. 2009;136:2977-85 pubmed publisher
    ..These data support a model in which the mode of Pax6-Sox2 inter-regulation is stage-dependent and suggest an underlying mechanism in which DNA binding site availability is regulated. ..
  12. Nakayama A, Nguyen M, Chen C, Opdecamp K, Hodgkinson C, Arnheiter H. Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. Mech Dev. 1998;70:155-66 pubmed
    The mouse microphthalmia (Mitf) gene encodes a basic-helix-loop-helix-zipper transcription factor whose mutations are associated with abnormalities in neuroepithelial and neural crest-derived melanocytes...
  13. Wellbrock C, Marais R. Elevated expression of MITF counteracts B-RAF-stimulated melanocyte and melanoma cell proliferation. J Cell Biol. 2005;170:703-8 pubmed
    ..Microphthalmia-associated transcription factor (MITF) is an important melanocyte differentiation and survival factor, but its role in melanoma is unclear...
  14. Potterf S, Mollaaghababa R, Hou L, Southard Smith E, Hornyak T, Arnheiter H, et al. Analysis of SOX10 function in neural crest-derived melanocyte development: SOX10-dependent transcriptional control of dopachrome tautomerase. Dev Biol. 2001;237:245-57 pubmed
    ..homozygous for the Sox10(Dom) mutation entirely lack neural crest-derived cells expressing the lineage marker KIT, MITF, or DCT. Moreover, neural crest cell cultures derived from homozygous embryos do not give rise to pigmented cells...
  15. Chiaverini C, Beuret L, Flori E, Busca R, Abbe P, Bille K, et al. Microphthalmia-associated transcription factor regulates RAB27A gene expression and controls melanosome transport. J Biol Chem. 2008;283:12635-42 pubmed publisher
    ..In this study, we show that microphthalmia-associated transcription factor (MITF) silencing induces melanosome gathering around the nucleus and causes the relocalization of Rab27A, Slac2a-Mlph, ..
  16. Morii E, Tsujimura T, Jippo T, Hashimoto K, Takebayashi K, Tsujino K, et al. Regulation of mouse mast cell protease 6 gene expression by transcription factor encoded by the mi locus. Blood. 1996;88:2488-94 pubmed
    ..of the basic-helix-loop-helix-leucine zipper (bHLH-Zip) protein family of transcription factors (hereafter called MITF)...
  17. Zhou C, Molotkov A, Song L, Li Y, Pleasure D, Pleasure S, et al. Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes. Dev Dyn. 2008;237:3681-9 pubmed publisher
  18. Ito A, Morii E, Maeyama K, Jippo T, Kim D, Lee Y, et al. Systematic method to obtain novel genes that are regulated by mi transcription factor: impaired expression of granzyme B and tryptophan hydroxylase in mi/mi cultured mast cells. Blood. 1998;91:3210-21 pubmed
    ..a member of the basic-helix-loop-helix-leucine zipper protein family of transcription factors (hereafter called MITF)...
  19. Vetrini F, Auricchio A, Du J, Angeletti B, Fisher D, Ballabio A, et al. The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. Mol Cell Biol. 2004;24:6550-9 pubmed
    ..We demonstrated that Oa1 is a target of Mitf and that this regulatory mechanism is conserved in the human gene...
  20. Feng H, Cheng T, Steer J, Joyce D, Pavlos N, Leong C, et al. Myocyte enhancer factor 2 and microphthalmia-associated transcription factor cooperate with NFATc1 to transactivate the V-ATPase d2 promoter during RANKL-induced osteoclastogenesis. J Biol Chem. 2009;284:14667-76 pubmed publisher
    ..of the V-ATPase d2 promoter, we identified the presence of NFATc1, microphthalmia-associated transcription factor (MITF)- and myocyte enhancer factor 2 (MEF2)-binding sites within the V-ATPase d2 promoter using complementary ..
  21. Murakami H, Arnheiter H. Sumoylation modulates transcriptional activity of MITF in a promoter-specific manner. Pigment Cell Res. 2005;18:265-77 pubmed
    The microphthalmia transcription factor MITF plays important roles in several cell lineages including retinal and neural crest-derived pigment cells...
  22. Goding C. Mitf from neural crest to melanoma: signal transduction and transcription in the melanocyte lineage. Genes Dev. 2000;14:1712-28 pubmed
  23. Cai Z, Feng G, Zhang X. Temporal requirement of the protein tyrosine phosphatase Shp2 in establishing the neuronal fate in early retinal development. J Neurosci. 2010;30:4110-9 pubmed publisher
    ..Together, these results demonstrate that Shp2 mediates FGF-Ras signaling to control retinal progenitor cell fate. ..
  24. Tang K, Xie X, Park J, Jamrich M, Tsai S, Tsai M. COUP-TFs regulate eye development by controlling factors essential for optic vesicle morphogenesis. Development. 2010;137:725-34 pubmed publisher
    ..the expression of several regulatory genes essential for early optic vesicle development, including Pax6, Otx2, Mitf, Pax2 and Vax1/2, is altered in the corresponding compartments of the mutant eye...
  25. Tshori S, Gilon D, Beeri R, Nechushtan H, Kaluzhny D, Pikarsky E, et al. Transcription factor MITF regulates cardiac growth and hypertrophy. J Clin Invest. 2006;116:2673-81 pubmed
    High levels of microphthalmia transcription factor (MITF) expression have been described in several cell types, including melanocytes, mast cells, and osteoclasts...
  26. Morii E, Jippo T, Tsujimura T, Hashimoto K, Kim D, Lee Y, et al. Abnormal expression of mouse mast cell protease 5 gene in cultured mast cells derived from mutant mi/mi mice. Blood. 1997;90:3057-66 pubmed
    ..of the basic-helix-loop-helix-leucine zipper (bHLH-Zip) protein family of transcription factors (hereafter called MITF). The consensus sequence recognized and bound by bHLH-Zip transcription factors is CANNTG...
  27. Hou L, Arnheiter H, Pavan W. Interspecies difference in the regulation of melanocyte development by SOX10 and MITF. Proc Natl Acad Sci U S A. 2006;103:9081-5 pubmed
    ..In both zebrafish and mice, one transcription factor, SOX10, controls the expression of another, MITF (microphthalmia-associated transcription factor), which in turn regulates a set of genes critical for pigment cell ..
  28. Steingrimsson E. Interpretation of complex phenotypes: lessons from the Mitf gene. Pigment Cell Melanoma Res. 2010;23:736-40 pubmed
    ..An excellent example is provided by the microphthalmia (Mitf) locus in the mouse...
  29. Adachi S, Morii E, Kim D, Ogihara H, Jippo T, Ito A, et al. Involvement of mi-transcription factor in expression of alpha-melanocyte-stimulating hormone receptor in cultured mast cells of mice. J Immunol. 2000;164:855-60 pubmed
    ..encodes a member of the basic-helix-loop-helix-leucine zipper (bHLH-Zip) protein family of transcription factors (MITF)...
  30. Bharti K, Liu W, Csermely T, Bertuzzi S, Arnheiter H. Alternative promoter use in eye development: the complex role and regulation of the transcription factor MITF. Development. 2008;135:1169-78 pubmed publisher
    During vertebrate eye development, the transcription factor MITF plays central roles in neuroepithelial domain specification and differentiation of the retinal pigment epithelium...
  31. McGill G, Horstmann M, Widlund H, Du J, Motyckova G, Nishimura E, et al. Bcl2 regulation by the melanocyte master regulator Mitf modulates lineage survival and melanoma cell viability. Cell. 2002;109:707-18 pubmed
    Kit/SCF signaling and Mitf-dependent transcription are both essential for melanocyte development and pigmentation. To identify Mitf-dependent Kit transcriptional targets in primary melanocytes, microarray studies were undertaken...
  32. Ito A, Morii E, Kim D, Kataoka T, Jippo T, Maeyama K, et al. Inhibitory effect of the transcription factor encoded by the mi mutant allele in cultured mast cells of mice. Blood. 1999;93:1189-96 pubmed
    The mi locus of mice encodes a transcription factor of the basic-helix-loop-helix-leucine zipper protein family (MITF). The MITF encoded by the mutant mi allele (mi-MITF) deletes 1 of 4 consecutive arginines in the basic domain...
  33. Baumer N, Marquardt T, Stoykova A, Spieler D, Treichel D, Ashery Padan R, et al. Retinal pigmented epithelium determination requires the redundant activities of Pax2 and Pax6. Development. 2003;130:2903-15 pubmed
    ..Pax2; Pax6 compound mutants display a dose-dependent reduction in the expression of the melanocyte determinant Mitf, accompanied by transdifferentiation of retinal pigmented epithelium (RPE) into neuroretina (NR) in Pax2(-/-); Pax6(..
  34. Shah M, Bhoumik A, Goel V, Dewing A, Breitwieser W, Kluger H, et al. A role for ATF2 in regulating MITF and melanoma development. PLoS Genet. 2010;6:e1001258 pubmed publisher
    ..Gene expression profiling identified higher MITF expression in primary melanocytes expressing transcriptionally inactive ATF2...
  35. Hakami R, Hou L, Baxter L, Loftus S, Southard Smith E, Incao A, et al. Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage. Mech Dev. 2006;123:124-34 pubmed
    ..Given that SOX10 directly activates Ednrb in the enteric nervous system, our results suggest that SOX10 may differentially activate target genes based on the particular cellular context. ..
  36. Evans A, Gage P. Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development. Hum Mol Genet. 2005;14:3347-59 pubmed
    ..We propose a revised model of optic nerve development and new mechanisms that may underlie the etiology of glaucoma in Axenfeld-Rieger patients. ..
  37. Tsujimura T, Hashimoto K, Morii E, Tunio G, Tsujino K, Kondo T, et al. Involvement of transcription factor encoded by the mouse mi locus (MITF) in apoptosis of cultured mast cells induced by removal of interleukin-3. Am J Pathol. 1997;151:1043-51 pubmed
    ..We obtained CMCs from tg/tg mice that did not express the transcription factor encoded by the mi gene (MITF) due to the integration of a transgene at its 5' flanking region...
  38. Saha B, Singh S, Sarkar C, Bera R, Ratha J, Tobin D, et al. Activation of the Mitf promoter by lipid-stimulated activation of p38-stress signalling to CREB. Pigment Cell Res. 2006;19:595-605 pubmed
    ..The results are relevant for the regulation of melanocytes by Mitf, but also raise the possibility that lipid mediated activation of p38 signalling may represent a potential therapy for vitiligo.
  39. Khaled M, Larribere L, Bille K, Ortonne J, Ballotti R, Bertolotto C. Microphthalmia associated transcription factor is a target of the phosphatidylinositol-3-kinase pathway. J Invest Dermatol. 2003;121:831-6 pubmed
    ..melanogenic enzymes, tyrosinase and Tyrp1, through a transcriptional mechanism that involves microphthalmia associated transcription factor, a basic helix-loop-helix transcription factor, which plays a key role in melanocyte survival ..
  40. Hallsson J, Haflidadóttir B, Schepsky A, Arnheiter H, Steingrimsson E. Evolutionary sequence comparison of the Mitf gene reveals novel conserved domains. Pigment Cell Res. 2007;20:185-200 pubmed
    The microphthalmia-associated transcription factor (MITF) is a member of the MYC family of basic helix-loop-helix leucine zipper transcription factors...
  41. Khaled M, Larribere L, Bille K, Aberdam E, Ortonne J, Ballotti R, et al. Glycogen synthase kinase 3beta is activated by cAMP and plays an active role in the regulation of melanogenesis. J Biol Chem. 2002;277:33690-7 pubmed
    ..the activation of protein kinase A, increases the expression of microphthalmia-associated transcription factor (MITF), which in turn stimulates tyrosinase gene expression, to allow melanin synthesis...
  42. Fujimura N, Taketo M, Mori M, Korinek V, Kozmik Z. Spatial and temporal regulation of Wnt/beta-catenin signaling is essential for development of the retinal pigment epithelium. Dev Biol. 2009;334:31-45 pubmed publisher
    ..in transdifferentiation of RPE to neural retina (NR) as documented by downregulation of RPE-specific markers Mitf and Otx2 and ectopic expression of NR-specific markers Chx10 and Rx, respectively...
  43. Hou L, Panthier J, Arnheiter H. Signaling and transcriptional regulation in the neural crest-derived melanocyte lineage: interactions between KIT and MITF. Development. 2000;127:5379-89 pubmed
    ..depends on the tyrosine kinase receptor KIT and the basic-helix-loop-helix-leucine zipper transcription factor MITF. KIT and MITF show complex interactions in that MITF is needed for the maintenance of Kit expression in ..
  44. Levy C, Khaled M, Robinson K, Veguilla R, Chen P, Yokoyama S, et al. Lineage-specific transcriptional regulation of DICER by MITF in melanocytes. Cell. 2010;141:994-1005 pubmed publisher
    ..found to occur via direct transcriptional targeting of DICER by the melanocyte master transcriptional regulator MITF. MITF binds and activates a conserved regulatory element upstream of DICER's transcriptional start site upon ..
  45. Takemoto C, Yoon Y, Fisher D. The identification and functional characterization of a novel mast cell isoform of the microphthalmia-associated transcription factor. J Biol Chem. 2002;277:30244-52 pubmed
    The microphthalmia-associated transcription factor (Mitf) is critical for mast cell development based on the severe mast cell deficiency seen in Mitf mutant mice...
  46. Bumsted K, Barnstable C. Dorsal retinal pigment epithelium differentiates as neural retina in the microphthalmia (mi/mi) mouse. Invest Ophthalmol Vis Sci. 2000;41:903-8 pubmed
    ..Most importantly, loss of mi function permits a change in cell fate from RPE to retina in the dorsal eye. ..
  47. Rohan P, Stechschulte D, Li Y, Dileepan K. Macrophage function in mice with a mutation at the microphthalmia (mi) locus. Proc Soc Exp Biol Med. 1997;215:269-74 pubmed
    ..The mi mutation, therefore, is associated with reduced macrophage SOD activity, increased O2- and NO production, and enhanced capacity for tumor cell killing. The molecular mechanisms for these changes have not been identified. ..
  48. Kim D, Morii E, Ogihara H, Lee Y, Jippo T, Adachi S, et al. Different effect of various mutant MITF encoded by mi, Mior, or Miwh allele on phenotype of murine mast cells. Blood. 1999;93:4179-86 pubmed
    ..a member of the basic-helix-loop-helix-leucine zipper protein family of transcription factors (hereafter called MITF). Mutant alleles of mi, Mior, and Miwh are deletion or point mutation of the basic domain by which MITF binds DNA...
  49. Lang D, Lu M, Huang L, Engleka K, Zhang M, Chu E, et al. Pax3 functions at a nodal point in melanocyte stem cell differentiation. Nature. 2005;433:884-7 pubmed
    ..Pax3 activates expression of Mitf, a transcription factor critical for melanogenesis, while at the same time it competes with Mitf for occupancy of ..
  50. Morcillo J, Martinez Morales J, Trousse F, Fermin Y, Sowden J, Bovolenta P. Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH. Development. 2006;133:3179-90 pubmed
    ..Collectively, these data indicate that BMP7 is required for retinal fissure formation and that its activity is needed, before SHH signalling, for the generation of PAX2-positive cells at the optic disc. ..
  51. Chiang C, Litingtung Y, Lee E, Young K, Corden J, Westphal H, et al. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature. 1996;383:407-13 pubmed
    ..Defects in all tissues extend beyond the normal sites of Shh transcription, confirming the proposed role of Shh proteins as an extracellular signal required for the tissue-organizing properties of several vertebrate patterning centres. ..
  52. Bharti K, Gasper M, Ou J, Brucato M, Clore Gronenborn K, Pickel J, et al. A regulatory loop involving PAX6, MITF, and WNT signaling controls retinal pigment epithelium development. PLoS Genet. 2012;8:e1002757 pubmed publisher
    ..is seen, however, only in a background genetically sensitized by mutations in the pigment cell transcription factor MITF. In fact, a reduction in Pax6 gene dose exacerbates the RPE-to-retina transdifferentiation seen in embryos ..
  53. Westenskow P, Piccolo S, Fuhrmann S. Beta-catenin controls differentiation of the retinal pigment epithelium in the mouse optic cup by regulating Mitf and Otx2 expression. Development. 2009;136:2505-10 pubmed publisher
    ..The transcription factors microphthalmia-associated transcription factor (Mitf) and orthodenticle homolog 2 (Otx2) are crucial for RPE development and function; however, very little is known ..
  54. Tsujimura T, Morii E, Nozaki M, Hashimoto K, Moriyama Y, Takebayashi K, et al. Involvement of transcription factor encoded by the mi locus in the expression of c-kit receptor tyrosine kinase in cultured mast cells of mice. Blood. 1996;88:1225-33 pubmed
    ..of the basic-helix-loop-helix-leucine zipper (bHLH-Zip) protein family of transcription factors (hereafter called MITF)...
  55. Roundy K, Kollhoff A, Eichwald E, Weis J, Weis J. Microphthalmic mice display a B cell deficiency similar to that seen for mast and NK cells. J Immunol. 1999;163:6671-8 pubmed
    ..Therefore, the block in cellular differentiation must be within the marrow environment, which is essential for maturing B cells, NK cells, and MC but not T cells. ..
  56. Aksan I, Goding C. 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. 1998;18:6930-8 pubmed
  57. Lerner A, Shiohara T, Boissy R, Jacobson K, Lamoreux M, Moellmann G. A mouse model for vitiligo. J Invest Dermatol. 1986;87:299-304 pubmed
    As the result of a long search for a depigmenting mouse that could serve as a model for the study of vitiligo, we have located a strain that arose from the C57BL/6J. Its provisional genetic designation is C57BL/6J Ler-vit/vit...
  58. Planque N, Leconte L, Coquelle F, Martin P, Saule S. Specific Pax-6/microphthalmia transcription factor interactions involve their DNA-binding domains and inhibit transcriptional properties of both proteins. J Biol Chem. 2001;276:29330-7 pubmed
    Pax-6 and microphthalmia transcription factor (Mitf) are required for proper eye development. Pax-6, expressed in both the neuroretina and pigmented retina, has two DNA-binding domains: the paired domain and the homeodomain...
  59. Hornyak T, Hayes D, Chiu L, Ziff E. Transcription factors in melanocyte development: distinct roles for Pax-3 and Mitf. Mech Dev. 2001;101:47-59 pubmed
    A transgenic mouse model was used to examine the roles of the murine transcription factors Pax-3 and Mitf in melanocyte development...
  60. Potterf S, Furumura M, Dunn K, Arnheiter H, Pavan W. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet. 2000;107:1-6 pubmed
    ..with neural crest-derived melanocyte deficiency caused by mutations in either one of three transcription factors: MITF, PAX3, and SOX10. However, the hierarchical relationship of these transcription factors is largely unknown...
  61. Jippo T, Morii E, Tsujino K, Tsujimura T, Lee Y, Kim D, et al. Involvement of transcription factor encoded by the mouse mi locus (MITF) in expression of p75 receptor of nerve growth factor in cultured mast cells of mice. Blood. 1997;90:2601-8 pubmed
    ..of the basic-helix-loop-helix-leucine zipper (bHLH-Zip) protein family of transcription factors (hereafter called MITF). Cultured mast cells (CMCs) of mi/mi genotype showed a poor response to nerve growth factor (NGF)...
  62. Steingrimsson E, Moore K, Lamoreux M, Ferré D Amaré A, Burley S, Zimring D, et al. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nat Genet. 1994;8:256-63 pubmed
    ..Recently, mutations in the human mi gene (MITF) were found in patients with Waardenburg Syndrome type 2 (WS2), a dominantly inherited syndrome associated with ..
  63. Amae S, Fuse N, Yasumoto K, Sato S, Yajima I, Yamamoto H, et al. Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. Biochem Biophys Res Commun. 1998;247:710-5 pubmed
    Mutations at the mouse locus encoding microphthalmia-associated transcription factor (Mitf) affect the development of many cell types, including retinal pigment epithelium (RPE), melanocytes, mast cells, and osteoclasts...
  64. Steingrimsson E, Tessarollo L, Pathak B, Hou L, Arnheiter H, Copeland N, et al. 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. 2002;99:4477-82 pubmed
    The Mitf-Tfe family of basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factors encodes four family members: Mitf, Tfe3, Tfeb, and Tfec...
  65. Kasugai T, Oguri K, Jippo Kanemoto T, Morimoto M, Yamatodani A, Yoshida K, et al. Deficient differentiation of mast cells in the skin of mi/mi mice. Usefulness of in situ hybridization for evaluation of mast cell phenotype. Am J Pathol. 1993;143:1337-47 pubmed
    ..The in situ hybridization of mRNA of mast cell-specific proteolytic enzymes seemed to be useful to describe abnormalities of mast cell differentiation in the skin of mi/mi mice. ..
  66. Zhu S, Wurdak H, Wang Y, Galkin A, Tao H, Li J, et al. A genomic screen identifies TYRO3 as a MITF regulator in melanoma. Proc Natl Acad Sci U S A. 2009;106:17025-30 pubmed publisher
    ..Microphthalmia-associated transcription factor (MITF) is a master gene regulating melanocyte development and functions as a "lineage addiction" oncogene in ..
  67. Raviv S, Bharti K, Rencus Lazar S, Cohen Tayar Y, Schyr R, Evantal N, et al. PAX6 regulates melanogenesis in the retinal pigmented epithelium through feed-forward regulatory interactions with MITF. PLoS Genet. 2014;10:e1004360 pubmed publisher
    ..mutagenesis of Pax6 in the differentiating RPE revealed that PAX6 functions in a feed-forward regulatory loop with MITF during onset of melanogenesis...
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    The more than 20 different Mitf mutations in the mouse are all associated with deficiencies in neural crest-derived melanocytes that range from minor functional disturbances with some alleles to complete absence of mature melanocytes with ..
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    ..These findings suggest that Mi's critical roles in melanocyte survival and pigmentation are mediated by MiT family interactions and transcriptional activities. ..
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    ..Together, these studies demonstrate that Hes1, like Pax6, simultaneously regulates multiple developmental processes during optic development. ..
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    ..5. Pmel17 expression is not detectable in embryos mutated for Microphthalmia-associated transcription factor (Mitf), demonstrating transcriptional dependence of Pmel17 on Mitf in the RPE...
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    ..b>Mitf and TFE3 are two closely related helix-loop-helix (HLH) transcription factors previously implicated in osteoclast ..
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    b>Mitf encodes a basic helix-loop-helix transcription factor that plays an essential role in the differentiation of the retinal pigmented epithelium (RPE) and neural crest-derived melanocytes...
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    ..20% of WS2 cases are associated with mutations in the gene encoding microphthalmia-associated transcription factor (MITF)...
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    The Microphthalmia-associated transcription factor (Mitf) is an essential basic helix-loop-helix leucine zipper transcription factor for mast cell development...
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    ..optic vesicle infolding was severely altered and the expression of pigment epithelium-specific genes, such as Mitf or tyrosinase, was lost...