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Microphthalmia-associated transcription factor
Identifiers
Symbols MITF; WS2A
External IDs OMIM156845 MGI104554 HomoloGene4892 GeneCards: MITF Gene
RNA expression pattern
PBB GE MITF 207233 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4286 17342
Ensembl ENSG00000187098 ENSMUSG00000035158
UniProt O75030 Q3U2D2
RefSeq (mRNA) NM_000248 NM_008601
RefSeq (protein) NP_000239 NP_032627
Location (UCSC) Chr 3:
69.87 - 70.1 Mb
Chr 6:
97.77 - 97.98 Mb
PubMed search [1] [2]

Microphthalmia-associated transcription factor (Mitf) is a basic helix-loop-helix leucine zipper transcription factor involved in melanocyte[1] and osteoclast development.[2]

Contents

Clinical significance

It can be associated with Tietz syndrome[3] and Waardenburg syndrome type IIa.[4]

Target genes

Mitf recognizes E-box (CAYRTG) and M-box (TCAYRTG or CAYRTGA) sequences in the promoter regions of target genes. Known target genes (confirmed by at least two independent sources) of this transcription factor include,

ACP5[5][6]

BCL2[6][7]

BEST1[6][8]

BIRC7[6][9]

CDK2[6][10]

CLCN7[6][11]

DCT[6][12]

EDNRB[6][13]

GPNMB[6][14]

GPR143[6][15]

MC1R[6][16]

MLANA[6][17]

OSTM1[6][11]

RAB27A[6][18]

SILV[6][17]

SLC45A2[6][19]

TBX2[6][20]

TRPM1[6][21]

TYR[6][22]

TYRP1[6][23]

Additional genes identified by a microarray study (which confirmed the above targets) include the following,[6]

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

Interactions

Microphthalmia-associated transcription factor has been shown to interact with PATZ1,[24] PIAS3,[25] TFE3,[26][27] UBE2I[28] and Lymphoid enhancer-binding factor 1.[12]

See also

References

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

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