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Annual Review of Genetics

Volume 38, 2004

Melanocytes and the Transcription Factor Network

Abstract

▪ Abstract 

The first mouse ( ) mutation was discovered over 60 years ago, and since then over 24 spontaneous and induced mutations have been identified at the locus. encodes a member of the Myc supergene family of asic elix-oop-elix per (bHLH-Zip) transcription factors. Like Myc, Mitf regulates gene expression by binding to DNA as a homodimer or as a heterodimer with another related family member, in the case of Mitf the Tfe3, Tfeb, and Tfec proteins. The study of Mitf has provided many insights into the biology of melanocytes and helped to explain how melanocyte-specific gene expression and signaling is regulated. The human homologue of is mutated in patients with the pigmentary and deafness disorder Waardenburg Syndrome Type 2A (WS2A). The mouse mutations therefore serve as a model for the study of this human disease. Mutations and/or aberrant expression of several family member genes have also been reported in human cancer, including melanoma (), papillary renal cell carcinoma (, ), and alveolar soft part sarcoma (). Genes in the pathway may therefore also represent valuable therapeutic targets for the treatment of human cancer. Here we review recent developments in the analysis of Mitf function in vivo and in vitro and show how traditional genetics, modern forward genetics and in vitro biochemical analyses have combined to produce an intriguing story on the role and actions of a gene family in a living organism.

Keyword(s): bHLH-Zip proteins, melanocytes, microphthalmia transcription factor, transcription factor networks
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2004-12-15
2024-05-18
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Melanocytes and the Microphthalmia Transcription Factor Network
Annual Review of Genetics 38, 365 (2004); https://doi.org/10.1146/annurev.genet.38.072902.092717
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