| Literature DB >> 20361935 |
Philippe Rostagno1, Zohar Wolchinsky, Alessandra M Vigano, Shoham Shivtiel, Huiqing Zhou, Hans Van Bokhoven, Giustina Ferone, Caterina Missero, Roberto Mantovani, Daniel Aberdam, Thierry Virolle.
Abstract
Heterozygous mutations in the TP63 transcription factor underlie the molecular basis of several similar autosomal dominant ectodermal dysplasia (ED) syndromes. Here we provide a novel cellular model derived from embryonic stem (ES) cells that recapitulates in vitro the main steps of embryonic skin development. We show that ES cells carrying AEC or EEC mutations are unable to differentiate into the epidermal fate. Comparative transcriptome analysis strongly reveals an embryonic epidermal signature and suggests that mutations in the SAM domain (AEC) provide activating properties while mutations in the DBD domain (EEC) induce strong inhibitory capabilities. Our model uncovers the effect of relevant ED mutations that otherwise are difficult to evaluate on the ectodermal embryonic stage, an embryonic event critical for proper skin formation. 2010 Elsevier Inc. All rights reserved.Entities:
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Year: 2010 PMID： 20361935 DOI： 10.1016/j.bbrc.2010.03.154
Source DB: PubMed Journal: Biochem Biophys Res Commun ISSN： 0006-291X Impact factor: 3.575