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Papers In Press, published online ahead of print August 10, 2000
Biologie et Physiologie de la Peau., INSERM U385, Nice 06107 cedex
Corresponding Author: ballotti{at}unice.fr
The absence of melanocytes from the cochlea and epidermis are responsible of deafness and hypopigmentation, two symptoms shared by the four Waardenburg Syndrome (WS) subtypes. Microphthalmia associated Transcription Factor (MITF) controls melanocyte survival and differentiation. Mutations, which impair MITF function or expression, result in an abnormal melanocyte development leading to the WS2. WS1 and WS3 are caused by mutation in the gene encoding the transcription factor Pax3, which regulate MITF expression. Recently, mutations in SOX10, a gene encoding a SRY-related transcription factor, have been reported in patients with WS4. However, the molecular basis of the defective melanocyte development in these patients remained to be elucidated. In the present report, we demonstrate that Sox10 is a strong activator of the MITF promoter and we identify a Sox10 binding site between ?264/-266 of the MITF promoter. Finally, we show that three SOX10 mutations found in WS4 abolish the transcriptional activity of the resulting Sox10 proteins towards the MITF promoter. Taken together, our observations bring new and meaningful information concerning the molecular process that leads to a defective melanocyte development in WS4 patients with SOX10 mutations.
J. Biol. Chem, 10.1074/jbc.C000445200
Submitted on July 10, 2000
Revised on July 31, 2000
Accepted on August 10, 2000
Regulation of microphthalmia-associated transcription factor gene by the waardenburg syndrome type 4 Gene, Sox10
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