Embryonic stem cells as an ectodermal cellular model of human p63-related dysplasia syndromes.
Biochem Biophys Res Commun
; 395(1): 131-5, 2010 Apr 23.
Article
em En
| MEDLINE
| ID: mdl-20361935
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pele
/
Displasia Ectodérmica
/
Transativadores
/
Proteínas Supressoras de Tumor
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Células-Tronco Embrionárias
/
Modelos Biológicos
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Biochem Biophys Res Commun
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
França