PMID: 9170159Feb 1, 1997Paper

Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A

Pigment Cell Research
M Tachibana

Abstract

MITF (microphthalmia-associated transcription factor) encodes a transcription factor with a basic-helix-loop-helix-leucine zipper (bHLH-Zip) motif. Ectopic expression of MITF is found to convert NIH/3T3 fibroblasts into cells with characteristics of melanocytes. MITF transfectants formed foci, which superficially resembled those induced by oncogenes, but did not exhibit malignant phenotypes. Instead, they contained dendritic cells that express melanogenic marker proteins such as tyrosinase and tyrosinase-related protein 1. Such properties were not observed in cells transfected with the closely related gene, TFE3. These findings indicated that MITF is involved in melanocyte differentiation. Two mutations (C760-->T and C895-->T) in MITF are found to be associated with individuals with Waardenburg syndrome type 2 (WS2). These mutations create stop codons in exon 7 and 8, respectively, and probably result in truncated proteins lacking HLH-Zip or Zip structure. To understand how these MITF mutations cause WS2 in heterozygotes, mutant MITF proteins were generated and used for DNA-binding and luciferase reporter assays. The mutated MITF proteins lose their DNA-binding activity and fail to transactivate the promoter of the tyrosinase g...Continue Reading

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Citations

Apr 20, 2004·Archives of Pharmacal Research·Dong-Seok KimKyoung-Chan Park
Oct 15, 2010·Archives of Pharmacal Research·Eui Taek JeongSun Gyoo Park
May 19, 2004·The International Journal of Biochemistry & Cell Biology·Dong-Seok KimKyoung-Chan Park
Jan 17, 2004·Chemistry and Physics of Lipids·Dong-Seok KimKyoung-Chan Park
Dec 20, 2003·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Robert N PagePaul B Googe
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Sep 29, 2011·Proceedings of the National Academy of Sciences of the United States of America·Erez FeigeDavid E Fisher
Sep 1, 2007·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·P C Kesavan, M S Swaminathan
Dec 30, 1999·Pigment Cell Research·M Tachibana
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Apr 2, 2008·Biological & Pharmaceutical Bulletin·Won-Serk KimJong-Hyuk Sung
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