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Positional cloning of the gene for multiple endocrine neoplasia-type 1.
Science. 1997 Apr 18; 276(5311):404-7.Sci

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.

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Authors+Show Affiliations

Chandrasekharappa SC
Laboratory of Gene Transfer, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Guru SC
No affiliation info available
Manickam P
No affiliation info available
Olufemi SE
No affiliation info available
Collins FS
No affiliation info available
Emmert-Buck MR
No affiliation info available
Debelenko LV
No affiliation info available
Zhuang Z
No affiliation info available
Lubensky IA
No affiliation info available
Liotta LA
No affiliation info available
Crabtree JS
No affiliation info available
Wang Y
No affiliation info available
Roe BA
No affiliation info available
Weisemann J
No affiliation info available
Boguski MS
No affiliation info available
Agarwal SK
No affiliation info available
Kester MB
No affiliation info available
Kim YS
No affiliation info available
Heppner C
No affiliation info available
Dong Q
No affiliation info available
Spiegel AM
No affiliation info available
Burns AL
No affiliation info available
Marx SJ
No affiliation info available

MeSH

Amino Acid SequenceChromosome MappingChromosomes, Human, Pair 11Cloning, MolecularDNA, ComplementaryExonsFrameshift MutationGenes, Tumor SuppressorHumansMolecular Sequence DataMultiple Endocrine Neoplasia Type 1MutationNeoplasm ProteinsProto-Oncogene Proteins

Pub Type(s)

Journal Article
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.

Language

eng

PubMed ID

9103196

Clinical Trial Links

Studies of Inherited Diseases of Metabolism

Citation

Chandrasekharappa, S C., et al. "Positional Cloning of the Gene for Multiple Endocrine Neoplasia-type 1." Science (New York, N.Y.), vol. 276, no. 5311, 1997, pp. 404-7.
Chandrasekharappa SC, Guru SC, Manickam P, et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 1997;276(5311):404-7.
Chandrasekharappa, S. C., Guru, S. C., Manickam, P., Olufemi, S. E., Collins, F. S., Emmert-Buck, M. R., Debelenko, L. V., Zhuang, Z., Lubensky, I. A., Liotta, L. A., Crabtree, J. S., Wang, Y., Roe, B. A., Weisemann, J., Boguski, M. S., Agarwal, S. K., Kester, M. B., Kim, Y. S., Heppner, C., ... Marx, S. J. (1997). Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science (New York, N.Y.), 276(5311), 404-7.
Chandrasekharappa SC, et al. Positional Cloning of the Gene for Multiple Endocrine Neoplasia-type 1. Science. 1997 Apr 18;276(5311):404-7. PubMed PMID: 9103196.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Positional cloning of the gene for multiple endocrine neoplasia-type 1. AU - Chandrasekharappa,S C, AU - Guru,S C, AU - Manickam,P, AU - Olufemi,S E, AU - Collins,F S, AU - Emmert-Buck,M R, AU - Debelenko,L V, AU - Zhuang,Z, AU - Lubensky,I A, AU - Liotta,L A, AU - Crabtree,J S, AU - Wang,Y, AU - Roe,B A, AU - Weisemann,J, AU - Boguski,M S, AU - Agarwal,S K, AU - Kester,M B, AU - Kim,Y S, AU - Heppner,C, AU - Dong,Q, AU - Spiegel,A M, AU - Burns,A L, AU - Marx,S J, PY - 1997/4/18/pubmed PY - 1997/4/18/medline PY - 1997/4/18/entrez SP - 404 EP - 7 JF - Science (New York, N.Y.) JO - Science VL - 276 IS - 5311 N2 - 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. SN - 0036-8075 UR - https://www.unboundmedicine.com/medline/citation/9103196/Positional_cloning_of_the_gene_for_multiple_endocrine_neoplasia_type_1_ L2 - https://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=9103196 DB - PRIME DP - Unbound Medicine ER -