PMID- 2894610 OWN - NLM STAT- MEDLINE DCOM- 19880408 LR - 20061115 IS - 0028-0836 (Print) IS - 0028-0836 (Linking) VI - 332 IP - 6159 DP - 1988 Mar 3 TI - Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. PG - 85-7 AB - 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. FAU - Larsson, C AU - Larsson C AD - Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden. FAU - Skogseid, B AU - Skogseid B FAU - Oberg, K AU - Oberg K FAU - Nakamura, Y AU - Nakamura Y FAU - Nordenskjold, M AU - Nordenskjold M LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Nature JT - Nature JID - 0410462 RN - 0 (DNA, Recombinant) RN - 9007-49-2 (DNA) SB - IM MH - Adenoma, Islet Cell/*genetics MH - Adult MH - Alleles MH - Cell Transformation, Neoplastic MH - Chromosome Mapping MH - *Chromosomes, Human, Pair 11 MH - DNA/genetics MH - DNA, Recombinant MH - Genotype MH - Humans MH - Hyperplasia MH - Insulinoma/*genetics MH - Islets of Langerhans/pathology MH - Male MH - Multiple Endocrine Neoplasia/*genetics MH - Pancreas/analysis/pathology MH - Pancreatic Neoplasms/*genetics MH - Parathyroid Glands/pathology MH - Pedigree MH - Pituitary Gland/pathology MH - Polymorphism, Restriction Fragment Length MH - Recombination, Genetic EDAT- 1988/03/03 00:00 MHDA- 1988/03/03 00:01 CRDT- 1988/03/03 00:00 PHST- 1988/03/03 00:00 [pubmed] PHST- 1988/03/03 00:01 [medline] PHST- 1988/03/03 00:00 [entrez] AID - 10.1038/332085a0 [doi] PST - ppublish SO - Nature. 1988 Mar 3;332(6159):85-7. doi: 10.1038/332085a0.