Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 9582123.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Colorectal Neoplasms
- DNA-Binding Proteins
- Gastrointestinal Neoplasms
- Genes, Tumor Suppressor
- Hamartoma Syndrome, Multiple
- Intestinal Polyps
- Trans-Activators