Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1-Reference-Cited by-同舟云学术

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

Published:1997-04-18 Issue:5311 Volume:276 Page:404-407
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Chandrasekharappa Settara C.¹²³⁴⁵,Guru Siradanahalli C.¹²³⁴⁵,Manickam Pachiappan¹²³⁴⁵,Olufemi Shodimu-Emmanuel¹²³⁴⁵,Collins Francis S.¹²³⁴⁵,Emmert-Buck Michael R.¹²³⁴⁵,Debelenko Larisa V.¹²³⁴⁵,Zhuang Zhengping¹²³⁴⁵,Lubensky Irina A.¹²³⁴⁵,Liotta Lance A.¹²³⁴⁵,Crabtree Judy S.¹²³⁴⁵,Wang Yingping¹²³⁴⁵,Roe Bruce A.¹²³⁴⁵,Weisemann Jane¹²³⁴⁵,Boguski Mark S.¹²³⁴⁵,Agarwal Sunita K.¹²³⁴⁵,Kester Mary Beth¹²³⁴⁵,Kim Young S.¹²³⁴⁵,Heppner Christina¹²³⁴⁵,Dong Qihan¹²³⁴⁵,Spiegel Allen M.¹²³⁴⁵,Burns A. Lee¹²³⁴⁵,Marx Stephen J.¹²³⁴⁵

Affiliation:

1. S. C. Chandrasekharappa, S. C. Guru, P. Manickam, S.-E. Olufemi, F. S. Collins, Laboratory of Gene Transfer, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA.

2. M. R. Emmert-Buck, L. V. Debelenko, Z. Zhuang, I. A. Lubensky, L. A. Liotta, Laboratory of Pathology, National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA.

3. J. S. Crabtree, Y. Wang, B. A. Roe, Department of Chemistry and Biochemistry, University of Oklahoma, Norman, OK 73019, USA.

4. J. Weisemann and M. S. Boguski, National Center for Biotechnology Information, National Library of Medicine (NLM), NIH, Bethesda, MD 20894, USA.

5. S. K. Agarwal, M. B. Kester, Y. S. Kim, C. Heppner, Q. Dong, A. M. Spiegel, A. L. Burns, S. J. Marx, Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD 20892, USA.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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