Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma.
Multiple endocrine neoplasia type 1 (MEN-1) is a predisposition to hyperplasia of the parathyroid glands, and to hyperplasia or tumours of the anterior pituitary and the endocrine pancreas, and is inherited as an autosomal dominant trait. Here we map the MEN-1 locus to chromosome 11 by family studies, and demonstrate tight linkage with the human muscle phosphorylase gene. By comparing constitutional and tumour tissue genotypes of insulinomas from a pair of brothers who had inherited MEN-1 from their mother, we have shown that oncogenesis in these cases involves unmasking of a recessive mutation at this locus.
D007516:Adenoma, Islet Cell / Q000235:genetics*; D000328:Adult; D000483:Alleles; D002471:Cell Transformation, Neoplastic; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D004247:DNA / Q000235:genetics; D004274:DNA, Recombinant; D005838:Genotype; D006801:Humans; D006965:Hyperplasia; D007340:Insulinoma / Q000235:genetics*; D007515:Islets of Langerhans / Q000473:pathology; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D010179:Pancreas / Q000032:analysis / Q000473:pathology; D010190:Pancreatic Neoplasms / Q000235:genetics*; D010280:Parathyroid Glands / Q000473:pathology; D010375:Pedigree; D010902:Pituitary Gland / Q000473:pathology; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic
D004274:DNA, Recombinant; D004247:DNA