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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients.

The Sry-related protein Sox10 is selectively expressed in neural crest cells during early stages of development and in glial cells of the peripheral and central nervous systems during late development and in the adult. Mutation of the Sox10 gene leads to neural crest defects in the Dominant megacolon mouse mutant and to combined Waardenburg-Hirschsprung syndrome in humans. Here, we have studied the four Sox10 mutations found to date in Waardenburg-Hirschsprung patients both in the context of the rat and the human cDNA. Unlike the rat Sox10 protein, which failed to show transcriptional activity on its own, human Sox10 displayed a weak, but reproducible, activity as a transcriptional activator. All mutant Sox10 proteins, including the one that only lacked the 106 last amino acids were deficient in this capacity, indicating that the carboxyl terminus of human Sox10 carries a transactivation domain. Whereas all four mutants failed to transactivate, only two failed to synergistically enhance the activity of other transcription factors. Synergy required both the ability to bind to DNA and a region in the amino-terminal part of Sox10. Those mutants that failed to synergize were unable to bind to DNA. Analysis of the naturally occurring Sox10 mutations not only helps to dissect Sox10 structure, but also allows limited predictions on the severity of the disease.[1]


  1. Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. Kuhlbrodt, K., Schmidt, C., Sock, E., Pingault, V., Bondurand, N., Goossens, M., Wegner, M. J. Biol. Chem. (1998) [Pubmed]
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