TY - JOUR
T1 - Positional cloning of the gene for multiple endocrine neoplasia-type 1
AU - Chandrasekharappa, Settara C.
AU - Guru, Siradanahalli C.
AU - Manickam, Pachiappan
AU - Olufemi, Shodimu Emmanuel
AU - Collins, Francis S.
AU - Emmert-Buck, Michael R.
AU - Debelenko, Larisa V.
AU - Zhuang, Zhengping
AU - Lubensky, Irina A.
AU - Liotta, Lance A.
AU - Crabtree, Judy S.
AU - Wang, Yingping
AU - Roe, Bruce A.
AU - Weisemann, Jane
AU - Boguski, Mark S.
AU - Agarwal, Sunita K.
AU - Kester, Mary Beth
AU - Kim, Young S.
AU - Heppner, Christina
AU - Dong, Qihan
AU - Spiegel, Allen M.
AU - Burns, A. Lee
AU - Marx, Stephen J.
PY - 1997/4/18
Y1 - 1997/4/18
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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0030963446&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030963446&partnerID=8YFLogxK
U2 - 10.1126/science.276.5311.404
DO - 10.1126/science.276.5311.404
M3 - Article
C2 - 9103196
AN - SCOPUS:0030963446
SN - 0036-8075
VL - 276
SP - 404
EP - 406
JO - Science
JF - Science
IS - 5311
ER -