Functional studies of the <i>MEN1</i> gene

Abstract

Abstract. Chandrasekharappa SC, Teh BT (National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Van Andel Research Institute, Grand Rapids, MI, USA). Functional studies of the MEN1 gene (Minisymposium). J Intern Med 2003; 253 ; 606–615. 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‐κB‐, Smad3‐mediated transcriptional activation. The mouse Men1 knockout model mimicks the human MEN1 condition contributing to the understanding of tumorigenesis in MEN1.