title: Positional cloning of the gene for multiple endocrine neoplasia-type 1.
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.
authors.affiliation: Laboratory of Gene Transfer, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
authors.forename: S C
authors.initials: SC
authors.lastname: Chandrasekharappa
authors.forename: S C
authors.initials: SC
authors.lastname: Guru
authors.forename: P
authors.initials: P
authors.lastname: Manickam
authors.forename: S E
authors.initials: SE
authors.lastname: Olufemi
authors.forename: F S
authors.initials: FS
authors.lastname: Collins
authors.forename: M R
authors.initials: MR
authors.lastname: Emmert-Buck
authors.forename: L V
authors.initials: LV
authors.lastname: Debelenko
authors.forename: Z
authors.initials: Z
authors.lastname: Zhuang
authors.forename: I A
authors.initials: IA
authors.lastname: Lubensky
authors.forename: L A
authors.initials: LA
authors.lastname: Liotta
authors.forename: J S
authors.initials: JS
authors.lastname: Crabtree
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: B A
authors.initials: BA
authors.lastname: Roe
authors.forename: J
authors.initials: J
authors.lastname: Weisemann
authors.forename: M S
authors.initials: MS
authors.lastname: Boguski
authors.forename: S K
authors.initials: SK
authors.lastname: Agarwal
authors.forename: M B
authors.initials: MB
authors.lastname: Kester
authors.forename: Y S
authors.initials: YS
authors.lastname: Kim
authors.forename: C
authors.initials: C
authors.lastname: Heppner
authors.forename: Q
authors.initials: Q
authors.lastname: Dong
authors.forename: A M
authors.initials: AM
authors.lastname: Spiegel
authors.forename: A L
authors.initials: AL
authors.lastname: Burns
authors.forename: S J
authors.initials: SJ
authors.lastname: Marx
mesh_terms: D000595:Amino Acid Sequence; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D016368:Frameshift Mutation; D016147:Genes, Tumor Suppressor; D006801:Humans; D008969:Molecular Sequence Data; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009154:Mutation; D009363:Neoplasm Proteins / Q000737:chemistry / Q000235:genetics*; D011518:Proto-Oncogene Proteins
chemical_list: D018076:DNA, Complementary; C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins