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

Settara C. Chandrasekharappa, Siradanahalli C. Guru, Pachiappan Manickam, Shodimu Emmanuel Olufemi, Francis S. Collins, Michael R. Emmert-Buck, Larisa V. Debelenko, Zhengping Zhuang, Irina A. Lubensky, Lance A. Liotta, Judy S. Crabtree, Yingping Wang, Bruce A. Roe, Jane Weisemann, Mark S. Boguski, Sunita K. Agarwal, Mary Beth Kester, Young S. Kim, Christina Heppner, Qihan DongAllen M. Spiegel, A. Lee Burns, Stephen J. Marx

Research output: Contribution to journalArticle

1548 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)404-406
Number of pages3
JournalScience
Volume276
Issue number5311
DOIs
StatePublished - Apr 18 1997
Externally publishedYes

ASJC Scopus subject areas

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    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, 276(5311), 404-406. https://doi.org/10.1126/science.276.5311.404