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

✍ Scribed by Chandrasekharappa, S. C.

• Book ID: 121157686
• Publisher: American Association for the Advancement of Science
• Year: 1997
• Tongue: English
• Weight: 458 KB
• Volume: 276
• Category: Article
• ISSN: 0036-8075
• DOI: 10.1126/science.276.5311.404

✦ Synopsis

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.