Gene Symbol: Mitf
Description: melanogenesis associated transcription factor
Alias: microphthalmia-associated transcription factor
Species: rat
Products:     Mitf

Top Publications

  1. Opdecamp K, Nakayama A, Nguyen M, Hodgkinson C, Pavan W, Arnheiter H. Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development. 1997;124:2377-86 pubmed
    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 ..
  2. 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...
  3. Yasumoto K, Yokoyama K, Takahashi K, Tomita Y, Shibahara S. Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes. J Biol Chem. 1997;272:503-9 pubmed
    ..a CATGTG motif, which was shown here to be bound in vitro by microphthalmia-associated transcription factor (MITF)...
  4. Denecker G, Vandamme N, Akay O, Koludrovic D, Taminau J, Lemeire K, et al. Identification of a ZEB2-MITF-ZEB1 transcriptional network that controls melanogenesis and melanoma progression. Cell Death Differ. 2014;21:1250-61 pubmed publisher
    ..Zeb2 in the melanocyte lineage results in a downregulation of the Microphthalmia-associated transcription factor (Mitf) and melanocyte differentiation markers concomitant with an upregulation of Zeb1...
  5. Masuda T, Esumi N. SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium. J Biol Chem. 2010;285:26933-44 pubmed publisher
    ..sufficient to direct expression in the RPE of transgenic mice, and microphthalmia-associated transcription factor (MITF) and OTX2 regulate this BEST1 promoter. However, a number of questions remained...
  6. Joo A, Aburatani H, Morii E, Iba H, Yoshimura A. STAT3 and MITF cooperatively induce cellular transformation through upregulation of c-fos expression. Oncogene. 2004;23:726-34 pubmed
    ..We found that the microphthalmia-associated transcription factor (MITF), an essential transcription factor for melanocyte development and pigmentation, induces anchorage-independent ..
  7. George A, Zand D, Hufnagel R, Sharma R, Sergeev Y, Legare J, et al. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016;99:1388-1394 pubmed publisher
    Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans...
  8. Pogenberg V, Ogmundsdóttir M, Bergsteinsdottir K, Schepsky A, Phung B, Deineko V, et al. Restricted leucine zipper dimerization and specificity of DNA recognition of the melanocyte master regulator MITF. Genes Dev. 2012;26:2647-58 pubmed publisher
    Microphthalmia-associated transcription factor (MITF) is a master regulator of melanocyte development and an important oncogene in melanoma...
  9. Visser M, Kayser M, Palstra R. HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. Genome Res. 2012;22:446-55 pubmed publisher
    ..melanocytes carrying the rs12913832 T-allele, we detected binding of the transcription factors HLTF, LEF1, and MITF to the HERC2 rs12913832 enhancer, and a long-range chromatin loop between this enhancer and the OCA2 promoter that ..

More Information


  1. Hong S, Oh H, Valera V, Baba M, Schmidt L, Linehan W. Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization. PLoS ONE. 2010;5:e15793 pubmed publisher
    ..TFE3 is a member of the MiTF/TFE transcription factor family and Xp11...
  2. Yannay Cohen N, Carmi Levy I, Kay G, Yang C, Han J, Kemeny D, et al. LysRS serves as a key signaling molecule in the immune response by regulating gene expression. Mol Cell. 2009;34:603-11 pubmed publisher
    ..We previously demonstrated that LysRS forms a complex with MITF and its repressor Hint-1, which is released from the complex by its binding to Ap(4)A, enabling MITF to transcribe ..
  3. Park H, Wu C, Yonemoto L, Murphy Smith M, Wu H, Stachur C, et al. MITF mediates cAMP-induced protein kinase C-beta expression in human melanocytes. Biochem J. 2006;395:571-8 pubmed
    The cAMP-dependent pathway up-regulates MITF (microphthalmia-associated transcription factor), important for key melanogenic proteins such as tyrosinase, TRP-1 (tyrosinase-related protein 1) and TRP-2...
  4. 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 ..
  5. Matsumoto M, Kogawa M, Wada S, Takayanagi H, Tsujimoto M, Katayama S, et al. Essential role of p38 mitogen-activated protein kinase in cathepsin K gene expression during osteoclastogenesis through association of NFATc1 and PU.1. J Biol Chem. 2004;279:45969-79 pubmed
    ..These results suggest that the RANKL-induced cathepsin K gene expression is cooperatively regulated by the combination of the transcription factors and p38 MAP kinase in a gradual manner. ..
  6. Widlund H, Horstmann M, Price E, Cui J, Lessnick S, Wu M, et al. Beta-catenin-induced melanoma growth requires the downstream target Microphthalmia-associated transcription factor. J Cell Biol. 2002;158:1079-87 pubmed
    The transcription factor Microphthalmia-associated transcription factor (MITF) is a lineage-determination factor, which modulates melanocyte differentiation and pigmentation...
  7. Smith S, Kelley P, Kenyon J, Hoover D. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet. 2000;37:446-8 pubmed
    ..This family was reascertained and a missense mutation was found in the basic region of the MITF gene in family members with Tietz syndrome...
  8. 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...
  9. Weilbaecher K, Hershey C, Takemoto C, Horstmann M, Hemesath T, Tashjian A, et al. Age-resolving osteopetrosis: a rat model implicating microphthalmia and the related transcription factor TFE3. J Exp Med. 1998;187:775-85 pubmed
    ..These results demonstrate the existence of members of a family of biochemically related transcription factors that may cooperate to play a central role in osteoclast function and possibly in age-related osteoclast homeostasis. ..
  10. Horsford D, Nguyen M, Sellar G, Kothary R, Arnheiter H, McInnes R. Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity. Development. 2005;132:177-87 pubmed
    ..the transcription factor Chx10, or retinal pigment epithelium (RPE) progenitors expressing the transcription factor Mitf. Chx10 mutations lead to microphthalmia and impaired neuroretinal proliferation...
  11. 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...
  12. Samija I, Lukac J, Marić Brozić J, Kusic Z. Microphthalmia-associated transcription factor and tyrosinase as markers of melanoma cells in blood of patients with melanoma. Croat Med J. 2004;45:142-8 pubmed
    To investigate whether analysis of microphthalmia-associated transcription factor (MITF) as an additional marker to tyrosinase in melanoma patients can improve the detection of circulating melanoma cells by reverse-transcription-..
  13. Murakami M, Ikeda T, Ogawa K, Funaba M. Transcriptional activation of mouse mast cell protease-9 by microphthalmia-associated transcription factor. Biochem Biophys Res Commun. 2003;311:4-10 pubmed
    ..Transcription was positively regulated by microphthalmia-associated transcription factor (MITF), a member of the basic helix-loop-helix-leucine zipper family that binds to the E-box, a CANNTG sequence...
  14. Yagil Z, Kay G, Nechushtan H, Razin E. A specific epitope of protein inhibitor of activated STAT3 is responsible for the induction of apoptosis in rat transformed mast cells. J Immunol. 2009;182:2168-75 pubmed publisher vivo as a key molecule in suppressing the transcriptional activity of both microphthalmia transcription factor (MITF) and STAT3, two transcription factors that play a major role in the development, phenotypic expression, and ..
  15. Aoki H, Moro O. Involvement of microphthalmia-associated transcription factor (MITF) in expression of human melanocortin-1 receptor (MC1R). Life Sci. 2002;71:2171-9 pubmed
    ..The microphthalmia-associated transcription factor (MITF), which belongs to the family of bHLH-LZ type transcription factors, regulates the transcription of melanogenesis-..
  16. 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...
  17. Adijanto J, Castorino J, Wang Z, Maminishkis A, Grunwald G, Philp N. Microphthalmia-associated transcription factor (MITF) promotes differentiation of human retinal pigment epithelium (RPE) by regulating microRNAs-204/211 expression. J Biol Chem. 2012;287:20491-503 pubmed publisher
    ..Microphthalmia-associated transcription factor (MITF) is a key regulator of RPE differentiation that was also down-regulated in dedifferentiated hfRPE cells...
  18. Maruyama K, Uematsu S, Kondo T, Takeuchi O, Martino M, Kawasaki T, et al. Strawberry notch homologue 2 regulates osteoclast fusion by enhancing the expression of DC-STAMP. J Exp Med. 2013;210:1947-60 pubmed publisher
    ..inhibition of DC-STAMP expression, leading to activation of the DC-STAMP promoter by microphthalmia-associated transcription factor (MITF). Thus, Sbno2 plays a pivotal role in bone homeostasis in vivo by fine-tuning osteoclast fusion.
  19. Mehta G, Kumarasamy S, Wu J, Walsh A, Liu L, WILLIAMS K, et al. MITF interacts with the SWI/SNF subunit, BRG1, to promote GATA4 expression in cardiac hypertrophy. J Mol Cell Cardiol. 2015;88:101-10 pubmed publisher
    ..The Microphthalmia-Associated Transcription Factor (MITF) is highly expressed in cardiomyocytes and is required for cardiac hypertrophy...
  20. Tassabehji M, Newton V, Liu X, Brady A, Donnai D, Krajewska Walasek M, et al. The mutational spectrum in Waardenburg syndrome. Hum Mol Genet. 1995;4:2131-7 pubmed
    ..such as Waardenburg syndrome (WS) or probable neurocristopathies were screened for mutations in the PAX3 and MITF genes...