PMID- 9103196 OWN - NLM STAT- MEDLINE DCOM- 19970502 LR - 20230411 IS - 0036-8075 (Print) IS - 0036-8075 (Linking) VI - 276 IP - 5311 DP - 1997 Apr 18 TI - Positional cloning of the gene for multiple endocrine neoplasia-type 1. PG - 404-7 AB - 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. FAU - Chandrasekharappa, S C AU - Chandrasekharappa SC AD - Laboratory of Gene Transfer, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA. FAU - Guru, S C AU - Guru SC FAU - Manickam, P AU - Manickam P FAU - Olufemi, S E AU - Olufemi SE FAU - Collins, F S AU - Collins FS FAU - Emmert-Buck, M R AU - Emmert-Buck MR FAU - Debelenko, L V AU - Debelenko LV FAU - Zhuang, Z AU - Zhuang Z FAU - Lubensky, I A AU - Lubensky IA FAU - Liotta, L A AU - Liotta LA FAU - Crabtree, J S AU - Crabtree JS FAU - Wang, Y AU - Wang Y FAU - Roe, B A AU - Roe BA FAU - Weisemann, J AU - Weisemann J FAU - Boguski, M S AU - Boguski MS FAU - Agarwal, S K AU - Agarwal SK FAU - Kester, M B AU - Kester MB FAU - Kim, Y S AU - Kim YS FAU - Heppner, C AU - Heppner C FAU - Dong, Q AU - Dong Q FAU - Spiegel, A M AU - Spiegel AM FAU - Burns, A L AU - Burns AL FAU - Marx, S J AU - Marx SJ LA - eng SI - GENBANK/U93236 SI - GENBANK/U93237 PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, Non-P.H.S. PT - Research Support, U.S. Gov't, P.H.S. PL - United States TA - Science JT - Science (New York, N.Y.) JID - 0404511 RN - 0 (DNA, Complementary) RN - 0 (MEN1 protein, human) RN - 0 (Neoplasm Proteins) RN - 0 (Proto-Oncogene Proteins) SB - IM MH - Amino Acid Sequence MH - Chromosome Mapping MH - Chromosomes, Human, Pair 11 MH - *Cloning, Molecular MH - DNA, Complementary/genetics MH - Exons MH - Frameshift Mutation MH - *Genes, Tumor Suppressor MH - Humans MH - Molecular Sequence Data MH - Multiple Endocrine Neoplasia Type 1/*genetics MH - Mutation MH - Neoplasm Proteins/chemistry/*genetics MH - *Proto-Oncogene Proteins EDAT- 1997/04/18 00:00 MHDA- 1997/04/18 00:01 CRDT- 1997/04/18 00:00 PHST- 1997/04/18 00:00 [pubmed] PHST- 1997/04/18 00:01 [medline] PHST- 1997/04/18 00:00 [entrez] AID - 10.1126/science.276.5311.404 [doi] PST - ppublish SO - Science. 1997 Apr 18;276(5311):404-7. doi: 10.1126/science.276.5311.404.