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

1497 Citations (Scopus)

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

Fingerprint

Multiple Endocrine Neoplasia Type 1
Organism Cloning
Genes
Sequence Deletion
DNA Sequence Analysis
Early Diagnosis
Exons
Neoplasms
Carcinogenesis
Proteins
Chromosomes
Amino Acids

ASJC Scopus subject areas

  • General

Cite this

Chandrasekharappa, S. C., Guru, S. C., Manickam, P., Olufemi, S. E., Collins, F. S., Emmert-Buck, M. R., ... 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

Positional cloning of the gene for multiple endocrine neoplasia-type 1. / Chandrasekharappa, Settara C.; Guru, Siradanahalli C.; Manickam, Pachiappan; Olufemi, Shodimu Emmanuel; Collins, Francis S.; Emmert-Buck, Michael R.; Debelenko, Larisa V.; Zhuang, Zhengping; Lubensky, Irina A.; Liotta, Lance A.; Crabtree, Judy S.; Wang, Yingping; Roe, Bruce A.; Weisemann, Jane; Boguski, Mark S.; Agarwal, Sunita K.; Kester, Mary Beth; Kim, Young S.; Heppner, Christina; Dong, Qihan; Spiegel, Allen M.; Burns, A. Lee; Marx, Stephen J.

In: Science, Vol. 276, No. 5311, 18.04.1997, p. 404-406.

Research output: Contribution to journalArticle

Chandrasekharappa, SC, Guru, SC, Manickam, P, Olufemi, SE, Collins, FS, Emmert-Buck, MR, Debelenko, LV, Zhuang, Z, Lubensky, IA, Liotta, LA, Crabtree, JS, Wang, Y, Roe, BA, Weisemann, J, Boguski, MS, Agarwal, SK, Kester, MB, Kim, YS, Heppner, C, Dong, Q, Spiegel, AM, Burns, AL & Marx, SJ 1997, 'Positional cloning of the gene for multiple endocrine neoplasia-type 1', Science, vol. 276, no. 5311, pp. 404-406. https://doi.org/10.1126/science.276.5311.404
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 1997 Apr 18;276(5311):404-406. https://doi.org/10.1126/science.276.5311.404
Chandrasekharappa, Settara C. ; Guru, Siradanahalli C. ; Manickam, Pachiappan ; Olufemi, Shodimu Emmanuel ; Collins, Francis S. ; Emmert-Buck, Michael R. ; Debelenko, Larisa V. ; Zhuang, Zhengping ; Lubensky, Irina A. ; Liotta, Lance A. ; Crabtree, Judy S. ; Wang, Yingping ; Roe, Bruce A. ; Weisemann, Jane ; Boguski, Mark S. ; Agarwal, Sunita K. ; Kester, Mary Beth ; Kim, Young S. ; Heppner, Christina ; Dong, Qihan ; Spiegel, Allen M. ; Burns, A. Lee ; Marx, Stephen J. / Positional cloning of the gene for multiple endocrine neoplasia-type 1. In: Science. 1997 ; Vol. 276, No. 5311. pp. 404-406.
@article{7732a20adbf4441c916e8638c154e8cd,
title = "Positional cloning of the gene for multiple endocrine neoplasia-type 1",
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.",
author = "Chandrasekharappa, {Settara C.} and Guru, {Siradanahalli C.} and Pachiappan Manickam and Olufemi, {Shodimu Emmanuel} and Collins, {Francis S.} and Emmert-Buck, {Michael R.} and Debelenko, {Larisa V.} and Zhengping Zhuang and Lubensky, {Irina A.} and Liotta, {Lance A.} and Crabtree, {Judy S.} and Yingping Wang and Roe, {Bruce A.} and Jane Weisemann and Boguski, {Mark S.} and Agarwal, {Sunita K.} and Kester, {Mary Beth} and Kim, {Young S.} and Christina Heppner and Qihan Dong and Spiegel, {Allen M.} and Burns, {A. Lee} and Marx, {Stephen J.}",
year = "1997",
month = "4",
day = "18",
doi = "10.1126/science.276.5311.404",
language = "English (US)",
volume = "276",
pages = "404--406",
journal = "Science",
issn = "0036-8075",
publisher = "American Association for the Advancement of Science",
number = "5311",

}

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

VL - 276

SP - 404

EP - 406

JO - Science

JF - Science

SN - 0036-8075

IS - 5311

ER -