SMAD4

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SMAD4

A gene on chromosome 18q21.1 that encodes a SMAD family protein, named for their similarity to the Drosophila gene Mothers Against Decapentaplegic (MAD), which are signal transducers and transcription modulators of multiple signalling pathways. SMAD4 forms homomeric complexes and heteromeric complexes with other activated SMADs; these accumulate in the nucleus and regulate target gene transcription. SMAD4 binds to DNA and recognizes an 8-bp palindromic sequence, the SMAD-binding element (SBE).
 
Molecular pathology
SMAD4 mutations or deletions are linked to hereditary haemorrhagic telangiectasia syndrome, juvenile polyposis syndrome and pancreatic cancer.
References in periodicals archive ?
Comparative mutational analysis of DPC4 (Smad4) in prostatic and colorectal carcinomas.
Somatic alterations of the DPC4 gene in human colorectal cancers in vivo.
After determining the DNA sequence of DPC4, Kern and his colleagues discovered that some pancreatic cancer patients who were obviously missing one copy of the gene had small mutations in the other copy.
Yet not every person with cancer of the pancreas had DPC4 problems.
To determine whether DPC4 is indeed a tumor suppressor, investigators need to add a functioning DPC4 gene back into cancer cells that are missing both copies of the gene and see if the cells return to a noncancerous state, says Nick R.
Adenosquamous carcinomas share similar genetic features with ductal adenocarcinomas, including KRAS2 mutations and inactivation of CDKN2A/p16, SMAD4/ DPC4, and/or TP53.
21 Other genetically inactivated tumor suppressor genes in pancreatic cancers, including TP53, SMAD4/ DPC4, and STK11/LKB1, have not been shown to undergo epigenetic silencing by DNA methylation.
Van Heek and colleagues124 used a panel of molecular studies, including KRAS2 mutation analysis and p53 and DPC4 immunohistochemistry, and looked for overexpression or loss of protein, respectively.
K-ras, p53, and DPC4 (MAD4) alterations in fine-needle aspirates of the pancreas: a molecular panel correlates with and supplements cytologic diagnosis.
Negative immunohistochemical labeling for thyroid transcription factor 1 in association with loss of DPC4 labeling was helpful to distinguish primary lung cancer from metastatic pancreatic adenocarcinoma to the lung.
Ji et al (42) reported that loss of DPC4 labeling is useful when used in an immunolabeling panel for distinguishing metastatic pancreatic carcinomas in the ovary from both primary ovarian mucinous tumors and metastatic mucinous carcinomas derived from other sites.