Report

Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1

Science  18 Apr 1997:
Vol. 276, Issue 5311, pp. 404-407
DOI: 10.1126/science.276.5311.404

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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 MEN1gene 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.

  • * To whom correspondence should be addressed. E-mail: fc23a{at}nih.gov

  • Present address: Department of Medicine, University of Sydney, Sydney NSW 2006, Australia.

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