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Originally published In Press as doi:10.1074/jbc.C000445200 on August 10, 2000

J. Biol. Chem., Vol. 275, Issue 40, 30757-30760, October 6, 2000
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ACCELERATED PUBLICATION
Regulation of the Microphthalmia-associated Transcription Factor Gene by the Waardenburg Syndrome Type 4 Gene, SOX10*

Carole VerasteguiDagger , Karine Bille, Jean-Paul Ortonne, and Robert Ballotti§

From INSERM U385, Biologie et Physiopathologie de la Peau, Faculté de Médecine, Avenue de Valombrose, Nice, 06107 Cedex, France

The absence of melanocytes from the cochlea and epidermis is 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 regulates 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 and -266 of the MITF promoter. Finally, we show that three SOX10 mutations found in WS4 abolish the transcriptional activity of the resulting Sox10 proteins toward 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.

* This work was supported in part by La Ligue Contre Le Cancer and L'Association pour la Recherche contre le Cancer (ARC) (Grant 5209).The costs of publication of this article were defrayed in part by the payment of page charges. The article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.

Dagger Supported by a fellowship from the ARC.

§ To whom correspondence should be addressed. E-mail: ballotti@unice.fr.

Copyright © 2000 by The American Society for Biochemistry and Molecular Biology, Inc.
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