EEC‐ and ADULT‐Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences. Issue 6 (2nd April 2013) - Monti, Paola
Abstract 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.