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

@article{Potterf2000TranscriptionFH,
  title={Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3},
  author={S. Brian Potterf and Minao Furumura and Karen Joyce Dunn and Heinz Arnheiter and William J. Pavan},
  journal={Human Genetics},
  year={2000},
  volume={107},
  pages={1-6}
}
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 expression… CONTINUE READING
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The Sox 10 ( Dom ) mouse : modeling the genetic variation of WaardenburgShah ( WS 4 ) syndrome

  • EM Southard-Smith, M Angrist, JS Ellison, R Agarwala, A Chakravarti, WJ Pavan
  • Genome Res
  • 1999

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