Localization of the MEN1 Gene to a Small Region within Chromosome 11q13 by Deletion Mapping in Tumors

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 87; no. 5; pp. 1968 - 1972
• Main Authors: Bystrom, Camilla, Larsson, Catharina, Blomberg, Carl, Sandelin, Kerstin, Falkmer, Ursula, Skogseid, Britt, Oberg, Kjell, Werner, Sigbritt, Nordenskjold, Magnus
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences of the United States of America 01-03-1990; National Acad Sciences
• Subjects: Adenoma; Adenoma - genetics; Adult; Aged; Alleles; Chromosome Deletion; Chromosome Mapping; Chromosomes; Chromosomes, Human, Pair 11; Female; gene mapping; Genes; Genetic Carrier Screening; Genetic loci; Genotypes; Humans; Hyperparathyroidism - genetics; Lesions; Male; men-1; Middle Aged; Multiple Endocrine Neoplasia - genetics; Multiple endocrine neoplasia type 1; parathyroid; Parathyroid Neoplasms - genetics; Pituitary neoplasms; Pituitary Neoplasms - genetics; Tumors; tumours
• ISSN: 0027-8424; 1091-6490
• DOI: 10.1073/pnas.87.5.1968

The gene for multiple endocrine neoplasia type 1 (MEN1), an inherited predisposition to neuroendocrine neoplasm of the parathyroid glands, the pancreatic islet parenchyma, and the anterior pituitary gland, was recently mapped to chromosome 11q13 based on genetic linkage in families. We now show that the pathogenesis of MEN1-associated parathyroid lesions involves unmasking of a recessive mutation at the disease locus and that sporadic primary hyperparathyroidism shares the same mechanisms. By examination of allele losses in MEN1-associated lesions, we could define deletions of chromosome 11 and map the MEN1 locus to a small region within chromosome band 11q13, telomeric to the PYGM locus. In contrast, a low incidence of deletions involving the MEN1 gene was found in sporadic pituitary adenomas.