Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3

  title={Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3},
  author={S. B. Potterf and M. Furumura and K. Dunn and H. Arnheiter and W. Pavan},
  journal={Human Genetics},
  • S. B. Potterf, M. Furumura, +2 authors W. Pavan
  • Published 2000
  • Biology, Medicine
  • Human Genetics
  • Abstract. Waardenburg syndrome (WS) is associated with neural crest-derived melanocyte deficiency caused by mutations in either one of three transcription factors: MITF, PAX3, and SOX10. However, the hierarchical relationship of these transcription factors is largely unknown. We show that SOX10 is capable of transactivating the MITF promoter 100-fold, and that this transactivation is further stimulated by PAX3. Promoter deletion and mutational analyses indicate that SOX10 can activate MITF… CONTINUE READING
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