title: Functional studies of the MEN1 gene.
abstract: Multiple endocrine neoplasia type 1 is an autosomal dominant cancer syndrome affecting primarily parathyroid, enteropancreatic endocrine and pituitary tissues. The inactivating germline and somatic mutations spread throughout the gene and the accompanying loss of the second allele in tumours show that the MEN1 gene is a tumour suppressor. The MEN1-encoded protein, menin, is a novel nuclear protein. Menin binds and alters JunD-, NF-kappaB-, Smad3-mediated transcriptional activation. The mouse Men1 knockout model mimicks the human MEN1 condition contributing to the understanding of tumorigenesis in MEN1.
authors.affiliation: Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: S C
authors.initials: SC
authors.lastname: Chandrasekharappa
authors.forename: B T
authors.initials: BT
authors.lastname: Teh
mesh_terms: D000818:Animals; D001483:Base Sequence; D002467:Cell Nucleus / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000378:metabolism; D004331:Drosophila melanogaster; D016147:Genes, Tumor Suppressor; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D051379:Mice; D018345:Mice, Knockout; D023421:Models, Animal; D008969:Molecular Sequence Data; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics* / Q000378:metabolism; D016328:NF-kappa B / Q000378:metabolism; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D025941:Protein Interaction Mapping; D011518:Proto-Oncogene Proteins; D016755:Proto-Oncogene Proteins c-jun / Q000378:metabolism; D051381:Rats; D016415:Sequence Alignment; D051900:Smad3 Protein; D015534:Trans-Activators / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; C105373:MEN1 protein, human; D016328:NF-kappa B; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D016755:Proto-Oncogene Proteins c-jun; C497790:SMAD3 protein, human; D051900:Smad3 Protein; C497791:Smad3 protein, mouse; C497787:Smad3 protein, rat; D015534:Trans-Activators