Positional cloning of the gene for multiple endocrine neoplasia-type 1

Science. 1997 Apr 18;276(5311):404-7. doi: 10.1126/science.276.5311.404.

Abstract

Multiple endocrine neoplasia-type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by tumors in parathyroids, enteropancreatic endocrine tissues, and the anterior pituitary. DNA sequencing from a previously identified minimal interval on chromosome 11q13 identified several candidate genes, one of which contained 12 different frameshift, nonsense, missense, and in-frame deletion mutations in 14 probands from 15 families. The MEN1 gene contains 10 exons and encodes a ubiquitously expressed 2.8-kilobase transcript. The predicted 610-amino acid protein product, termed menin, exhibits no apparent similarities to any previously known proteins. The identification of MEN1 will enable improved understanding of the mechanism of endocrine tumorigenesis and should facilitate early diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11
  • Cloning, Molecular*
  • DNA, Complementary / genetics
  • Exons
  • Frameshift Mutation
  • Genes, Tumor Suppressor*
  • Humans
  • Molecular Sequence Data
  • Multiple Endocrine Neoplasia Type 1 / genetics*
  • Mutation
  • Neoplasm Proteins / chemistry
  • Neoplasm Proteins / genetics*
  • Proto-Oncogene Proteins*

Substances

  • DNA, Complementary
  • MEN1 protein, human
  • Neoplasm Proteins
  • Proto-Oncogene Proteins

Associated data

  • GENBANK/U93236
  • GENBANK/U93237