Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis

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Science  15 May 1998:
Vol. 280, Issue 5366, pp. 1086-1088
DOI: 10.1126/science.280.5366.1086

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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 geneSMAD4 (also known as DPC4), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor–β 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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