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

Science. 1997 Apr 18;276(5311):404-7. doi: 10.1126/science.276.5311.404.

S C Chandrasekharappa ¹, S C Guru, P Manickam, S E Olufemi, F S Collins, M R Emmert-Buck, L V Debelenko, Z Zhuang, I A Lubensky, L A Liotta, J S Crabtree, Y Wang, B A Roe, J Weisemann, M S Boguski, S K Agarwal, M B Kester, Y S Kim, C Heppner, Q Dong, A M Spiegel, A L Burns, S J Marx

Affiliations

Affiliation

1 Laboratory of Gene Transfer, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA.

PMID: 9103196 DOI: 10.1126/science.276.5311.404

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.

Name
Email *

	Sorry, but the email address you supplied was invalid.