Transcriptional and Signaling Regulation in Neural Crest Stem Cell-Derived Melanocyte Development: Do All Roads Lead to Mitf?

Cell Res. 2008 Dec;18(12):1163-76. doi: 10.1038/cr.2008.303.


Human neurocristopathies include a number of syndromes, tumors, and dysmorphologies of neural crest (NC) stem cell derivatives. In recent years, many white spotting genes have been associated with hypopigmentary disorders and deafness in neurocristopathies resulting from NC stem cell-derived melanocyte deficiency during development. These include PAX3, SOX10, MITF, SNAI2, EDNRB, EDN3, KIT, and KITL. Recent studies have revealed surprising new insights into a central role of MITF in the complex network of interacting genes in melanocyte development. In this perspective, we provide an overview of some of the current findings and explore complex functional roles of these genes during NC stem cell-derived melanocyte development.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Gene Expression Regulation, Developmental*
  • Humans
  • Melanocytes / cytology
  • Melanocytes / metabolism*
  • Melanocytes / pathology
  • Microphthalmia-Associated Transcription Factor / genetics
  • Microphthalmia-Associated Transcription Factor / metabolism*
  • Neural Crest / cytology
  • Neural Crest / metabolism*
  • Neural Crest / pathology
  • Stem Cells / cytology
  • Stem Cells / metabolism*
  • Stem Cells / pathology
  • Transcription, Genetic


  • MITF protein, human
  • Microphthalmia-Associated Transcription Factor