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

• Record Type: Journal Article
• Authors: Monti, Paola; Russo, Debora; Bocciardi, Renata; Foggetti, Giorgia; Menichini, Paola; Divizia, Maria T.; Lerone, Margherita; Graziano, Claudio; Wischmeijer, Anita; Viadiu, Hector; Ravazzolo, Roberto; Inga, Alberto; Fronza, Gilberto
• Is Part Of: Human mutation. Volume 34:Issue 6(2013:Jun.)
• Page Start: 894
• Page End: 904
• Publication Date: 2013-04-02
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22304
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22304-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Germline <italic>TP63</italic> mutations are responsible for a group of human ectodermal dysplasia syndromes. Different <italic>TP63</italic> 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 <italic>TP63</italic>‐associated syndromes, namely <italic>PERP</italic> and <italic>COL18A1</italic>. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg20pg585j" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>