A transcript map for the 2.8-Mb region containing the multiple endocrine neoplasia type 1 locus

被引：108

作者：

Guru, SC

Agarwal, SK

Manickam, P

Olufemi, SE

Crabtree, JS

Weisemann, JM

Kester, MB

Kim, YS

Wang, YP

EmmertBuck, MR

Liotta, LA

Spiegel, AM

Boguski, MS

Roe, BA

Collins, FS

Marx, SJ

Burns, L

Chandrasekharappa, SC

机构：

[1] NIH, LAB GENE TRANSFER, NATL HUMAN GENOME RES INST, BETHESDA, MD 20892 USA

[2] NIDDKD, METAB DIS BRANCH, NIH, BETHESDA, MD 20892 USA

[3] NIH, NATL CTR BIOTECHNOL INFORMAT, NATL LIB MED, BETHESDA, MD 20892 USA

[4] NCI, PATHOL LAB, NIH, BETHESDA, MD 20892 USA

[5] UNIV OKLAHOMA, DEPT CHEM & BIOCHEM, NORMAN, OK 73019 USA

来源：

GENOME RESEARCH | 1997年 / 7卷 / 07期

关键词：

D O I：

10.1101/gr.7.7.725

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Multiple endocrine neoplasia type 1 (MEN 1) is an inherited cancer syndrome in which affected individuals develop multiple parathyroid, enteropancreatic, and pituitary tumors. The locus for MEN1 is tightly linked to the marker PYGM on chromosome 11q13, and linkage analysis places the MEN1 gene within a 2-Mb interval flanked by the markers D11S1883 and D11S449. Loss of heterozygosity studies in MEN I and sporadic tumors suggest that the MEN1 gene encodes a tumor suppressor and have helped to narrow the location of the gene to a 600-kb interval between PYGM and D11S449. Focusing on this smaller MEN1 interval, we have identified and mapped 12 transcripts to this 600-kb region. A precise ordered map of 33 transcripts, including 12 genes known to map to this region, was generated for the 2.8-Mb D11S480-D11SP13 interval. Fifteen candidate genes (of which 10 were examined exhaustively) were evaluated by Southern blot and/or dideoxy fingerprinting analysis to identify the gene harboring disease-causing mutations.

引用

页码：725 / 735

页数：11

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