Mutations in the <i>SMAD4/DPC4</i> Gene in Juvenile Polyposis
James R. Howe(University of Iowa), Stina Roth(University of Iowa), John C. Ringold(University of Iowa), Robert W. Summers(University of Iowa), Heikki Järvinen(University of Iowa), Pertti Sistonen(University of Iowa), Ian Tomlinson(University of Iowa), Richard S. Houlston(University of Iowa), Steve Bevan(University of Iowa), Frank A. Mitros(University of Iowa), Edwin M. Stone(University of Iowa), Lauri A. Aaltonen(University of Iowa)
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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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