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Paola Monti, Debora Russo, Renata Bocciardi, Giorgia Foggetti, Paola Menichini, Maria T. Divizia, Margherita Lerone, Claudio Graziano, Anita Wischmeijer, Hector Viadiu, Roberto Ravazzolo, Alberto Inga and Gilberto Fronza EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences Human Mutation 34

Version of Record online: 2 APR 2013 | DOI: 10.1002/humu.22304

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Germline TP63 mutations are responsible for a group of human ectodermal dysplasia syndromes. Different TP63 alleles identified in ADULT and EEC patients were functionally characterized in yeast, studied in a mammalian cell line and modeled based on the crystal structure of the P63 DNA-binding domain. Interestingly, the mutants associated with the ADULT phenotype were characterized by a severe defect in transactivation on DN-P63α-specific response elements derived from genes closely related to the clinical manifestations of the TP63-associated syndromes, namely PERP and COL18A1.

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