Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
Science
; 280(5366): 1086-8, 1998 May 15.
Article
en En
| MEDLINE
| ID: mdl-9582123
ABSTRACT
Familial juvenile polyposis is an autosomal dominant disease characterized by a predisposition to hamartomatous polyps and gastrointestinal cancer. Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor-beta signaling pathway. The mutant SMAD4 proteins are predicted to be truncated at the carboxyl-terminus and lack sequences required for normal function. These results confirm an important role for SMAD4 in the development of gastrointestinal tumors.
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Bases de datos:
MEDLINE
Asunto principal:
Síndrome de Hamartoma Múltiple
/
Neoplasias Colorrectales
/
Transactivadores
/
Pólipos Intestinales
/
Genes Supresores de Tumor
/
Proteínas de Unión al ADN
/
Neoplasias Gastrointestinales
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Science
Año:
1998
Tipo del documento:
Article
País de afiliación:
Estados Unidos