Microphthalmia: A signal responsive transcriptional regulator in development

Pigment Cell Research

Volumn 13, Issue SUPPL. 8, 2000, Pages 145-149

  Fisher, David E ^a  

^a DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

c Kit; Microphthalmia; MSH; Steel factor

Indexed keywords

DNA BINDING PROTEIN; HELIX LOOP HELIX PROTEIN; LEUCINE ZIPPER PROTEIN; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; MITF PROTEIN, HUMAN; STEM CELL FACTOR RECEPTOR; TRANSCRIPTION FACTOR;

ANIMAL; ARTICLE; GENE EXPRESSION REGULATION; GENETIC TRANSCRIPTION; HUMAN; MELANOMA; METABOLISM; PHYSIOLOGY; PIGMENTATION; SIGNAL TRANSDUCTION;

ANIMALS; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HELIX-LOOP-HELIX MOTIFS; HUMANS; LEUCINE ZIPPERS; MELANOMA; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; PIGMENTATION; PROTO-ONCOGENE PROTEINS C-KIT; SIGNAL TRANSDUCTION; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 0034564609     PISSN: 08935785     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0749.13.s8.26.x     Document Type: Article

References (24)

1. Silvers WK. The Coat Colors of Mice: A Model for Mammalian Gene Action and Interaction. New York: Springer-Verlag; 1979
2. Moore KJ. Insight into the microphthalmia gene. Trends Genet 1995;11:442-448
3. Hodgkinson CA, Moore KJ, Nakayama A, Steingrimsson E, Copeland NG, Jenkins NA, Arnheiter H. 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
4. Fuse N, Yasumoto K, Suzuki H, Takahashi K, Shibahara S. Identification of a melanocyte-type promoter of the microphthalmia-associated transcription factor gene. Biochem Biophys Res Commun 1996;219:702-707
5. Hemesath TJ, Steingrimsson E, McGill G, Hansen MJ, Vaught J, Hodgkinson CA, Arnheiter H, Copeland NG, Jenkins NA, Fisher DE. microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev 1994;8:2770-2780
6. Hughes AE, Newton VE, Liu XZ, Read AP. A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. Nat Genet 1994;7:509-512
7. Nobukuni Y, Watanabe A, Takeda K, Skarka H, Tachibana M. Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. Am J Hum Genet 1996;59:76-83
8. Steingrimsson E, Moore KJ, Lamoreux ML, Ferre-D'Amare AR, Burley SK, Sanders-Zimring DC, Skow LC, Hodgkinson CA, Arnheiter H, Copeland NG, Jenkins NA. Molecular basis of mouse microphthalimia (mi) mutations helps explain their developmental and phenotypic consequences. Nat Genet 1994;8:256-263
9. Lerner AB, Shiohara T, Boissy RE, Jacobson KA, Lamoreux ML, Moellmann GE. A mouse model for vitiligo. J Invest Dermatol 1986;87:299-304
10. Bentley NJ, Eisen T, Goding CR. Melanocyte-specific expression of the human tyrosinase promoter: Activation by the microphthalmia gene product and role of the initiator. Mol Cell Biol 1994;14:7996-8006
11. Yasumoto K, Yokoyama K, Shibata K, Tomita Y, Shibahara S. Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol Cell Biol 1994;14:8058-8070
12. Bertolotto C, Abbe P, Hemesath TJ, Bille K, Fisher DE, Ortonne JP, Ballotti R. Microphthalmia gene product as a signal transducer in cAMP-induced differentiation of melanocytes. J Cell Biol 1998;142:827-835
13. Price ER, Horstmann MA, Wells AG, Weilbaecher KN, Takemoto CM, Landis MW, Fisher DE. alpha-Melanocyte-stimulating hormone signaling regulates expression of microphthalmia, a gene deficient in Waardenburg syndrome. J Biol Chem 1998;273:33042-33047
14. Hemesath TJ, Price ER, Takemoto C, Badalian T, Fisher DE. MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes. Nature 1998;391:298-301
15. Price ER, Ding HF, Badalian T, Bhattacharya S, Takemoto C, Yao TP, Hemesath TJ, Fisher DE. Lineage-specific signaling in melanocytes. C-kit stimulation recruits p300/CBP to microphthalmia. J Biol Chem 1998;273:17983-17986
16. Sato S, Roberts K, Gambino G, Cook A, Kouzarides T, Goding CR. CBP/p300 as a co-factor for the Microphthalmia transcription factor. Oncogene 1997;14:3083-3092
17. King R, Weilbaecher KN, McGill G, Cooley E, Mihm M, Fisher DE. Microphthalmia transcription factor. A sensitive and specific melanocyte marker for melanoma diagnosis. Am J Pathol 1999;155:731-738
18. Carrel S, Rimoldi D. Melanoma-associated antigens. Eur J Cancer 1993;13:1903-1907
19. Zakut R, Perlis R, Eliyahu S, Yarden Y, Givol D, Lyman S, Halaban R. Kit ligand (mast cell growth factor) inhibits the growth of kit-expressing melanoma cells. Oncogene 1993;8:2221-2229
20. Halaban R, Cheng E, Zhang Y, Moellmann G, Hanlon D, Michalak M, Setaluri V, Hebert D. Aberrant retention of tyrosinase in the endoplasmic reticulum mediates accelerated degradation of the enzyme and contributes to the dedifferentiated phenotype of amelanotic melanoma cells. Proc Natl Acad Sci USA 1997;94:6210-6215
21. Kaufmann O, Koch S, Burghard J, Audring H, Dietel M. Tyrosinase, Melan-A, and KBA62 as markers for the immunhistochemical identification of metastatic amelanotic melanomas on paraffin sections. Mod Pathol 1998;11:740-746
22. Costa J, Demetri G, Harrist T, Dvorak A, Hayes D, Merica E, Menchaca D, Gringeri A, Schwartz L, Galli S. Recombinant human stem cell factor (kit ligand) promotes human mast cell and melanocyte hyperplasia and functional activation in vivo. J Exp Med 1996;183:2681-2686
23. Wu M, Hemesath TJ, Takemoto CM, Horstmann MA, Wells AG, Price ER, Fisher DZ, Fisher DE. c-Kit triggers dual phosphorylations which couple activation and degradation of the essential melanocyte factor Mi. Genes Dev 2000;14:301-312
24. Watanabe A, Takeda K, Ploplis B, Tachibana M. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Nat Genet 1998;18:283-286