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 Dong; Allen M. Spiegel; A. Lee Burns; Stephen J. Marx

doi:10.1126/science.276.5311.404

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 journal › Article › peer-review

1749 Scopus citations

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 language	English (US)
Pages (from-to)	404-406
Number of pages	3
Journal	Science
Volume	276
Issue number	5311
DOIs	https://doi.org/10.1126/science.276.5311.404
State	Published - Apr 18 1997
Externally published	Yes

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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

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

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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.}",

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doi = "10.1126/science.276.5311.404",

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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

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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.

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

Abstract

ASJC Scopus subject areas

UN SDGs

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