Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing.
Exp Dermatol
; 21(2): 111-7, 2012 Feb.
Article
em En
| MEDLINE
| ID: mdl-22168818
ABSTRACT
An intact keratin 5/keratin 14 intermediate filament cytoskeleton is vital for the integrity of basal keratinocytes and for the development and maintenance of epidermal structures. In patients with epidermolysis bullosa simplex Dowling-Meara (EBS-DM), heterozygous mutations in the keratin 14 gene in keratinocytes cause a cytoskeletal collapse leading to fragile cells susceptible to cellular stress. The primary aim of this work was to extend analysis of differentially expressed genes in an EBS-DM model cell line to obtain insights into the molecular consequences resulting from the keratin 14 mutation. In a first step, suppression subtractive hybridization (SSH), a powerful technology to enrich for differentially expressed genes, was used to identify genes whose up-regulation may be a direct or indirect result of the keratin 14 mutation, R125P. We discovered 55 candidate genes (SSH genes) that were further analysed by RTq-PCR. Of the 55 SSH genes, 14 (25.45%) were found to be congruently up-regulated. Bioinformatic analysis revealed significant enrichment of genes regulating epidermal development, migration, apoptosis and wound healing.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cicatrização
/
Queratinócitos
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Diferenciação Celular
/
Movimento Celular
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Epidermólise Bolhosa Simples
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Perfilação da Expressão Gênica
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Exp Dermatol
Assunto da revista:
DERMATOLOGIA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Áustria