A non-coding mutation in the 5' untranslated region of patched homologue 1 predisposes to basal cell carcinoma.
Exp Dermatol
; 22(12): 834-5, 2013 Dec.
Article
em En
| MEDLINE
| ID: mdl-24131384
ABSTRACT
Mutations in the human homolog of the Drosophila patched gene, patched homologue 1 (PTCH-1), are responsible for most hereditary and sporadic basal cell carcinomas. Here, we present a father and daughter with a high propensity for the development of basal cell carcinoma who were heterozygous for a non-coding germline mutation in the 5' untranslated region (UTR) of PTCH-1 (insertion of a surplus CGG triplet at the site of a seven times CGG repeat). We analysed the impact of this mutation on PTCH translation using a luciferase-based reporter vector. Insertion of an eighth CGG in the 5' UTR repressed protein translation dramatically when compared to the wild-type sequence. Our results suggest that this non-coding variant in the 5' UTR represents a mutation predisposing to basal cell carcinoma.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
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Carcinoma Basocelular
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Receptores de Superfície Celular
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Regiões 5' não Traduzidas
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RNA não Traduzido
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Mutação
Limite:
Adult
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Aged
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article