ISOLATION OF A CANDIDATE GENE FOR NORRIE DISEASE BY POSITIONAL CLONING

被引：198

作者：

BERGER, W

MEINDL, A

VANDEPOL, TJR

CREMERS, FPM

ROPERS, HH

DOERNER, C

MONACO, A

BERGEN, AAB

LEBO, R

WARBURG, M

ZERGOLLERN, L

LORENZ, B

GAL, A

BLEEKERWAGEMAKERS, EM

MEITINGER, T

机构：

[1] CATHOLIC UNIV NIJMEGEN, DEPT HUMAN GENET, POB 9101, 6500 HB NIJMEGEN, NETHERLANDS

[2] UNIV MUNICH, KINDERPOLIKLIN, PADIAT GENET ABT, W-8000 MUNICH 2, GERMANY

[3] JOHN RADCLIFFE HOSP, INST MOLEC MED, IMPERIAL CANC RES FUND LABS, OXFORD OX3 9DU, ENGLAND

[4] UNIV AMSTERDAM, DEPT OPHTHALMOGENET, OPHTHALM RES INST, AMSTERDAM, NETHERLANDS

[5] UNIV CALIF SAN FRANCISCO, DEPT OBSTET GYNAECOL & REPROD SCI, SAN FRANCISCO, CA 94143 USA

[6] GENTOFTE HOSP, EYE CLIN HANDICAPPED, DK-2900 COPENHAGEN, DENMARK

[7] UNIV ZAGREB, FAC MED, YU-41001 ZAGREB, CROATIA

[8] UNIV REGENSBURG, EYE CLIN, W-8400 REGENSBURG, GERMANY

[9] MED UNIV LUBECK, INST HUMAN GENET, LUBECK, GERMANY

来源：

NATURE GENETICS | 1992年 / 1卷 / 03期

关键词：

D O I：

10.1038/ng0692-199

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The gene for Norrie disease, an X-linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11.4 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a 640 kilobases (kb) insert which spans the DXS7-MAOB interval we have generated a cosmid contig which extends 250 kb beyond the MAOB gene. With one of these cosmids, microdeletions were detected in several patients with Norrie disease. Screening of cDNA libraries has enabled us to isolate and sequence a likely candidate gene for Norrie disease which is expressed in retina, choroid and fetal brain. No homologous sequences were found in DNA and protein databases indicating that this cDNA is part of a gene encoding a 'pioneer' protein.

引用

页码：199 / 203

页数：5

共 38 条

[1] COMPLEMENTARY-DNA SEQUENCING - EXPRESSED SEQUENCE TAGS AND HUMAN GENOME PROJECT [J].