Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis
JR Howe, S Roth, JC Ringold, RW Summers… - Science, 1998 - science.org
JR Howe, S Roth, JC Ringold, RW Summers, HJ Järvinen, P Sistonen, IPM Tomlinson…
Science, 1998•science.orgFamilial 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–β signaling pathway. The mutant SMAD4 proteins
are predicted to be truncated at the carboxyl-terminus and lack sequences required for …
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–β signaling pathway. The mutant SMAD4 proteins
are predicted to be truncated at the carboxyl-terminus and lack sequences required for …
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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