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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.

Authors+Show Affiliations

Laboratory of Gene Transfer, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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

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 -