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| ISOLATION OF A CANDIDATE GENE FOR NORRIE DISEASE BY POSITIONAL CLONING |
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| Author(s): 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 |
| Source: NATURE GENETICS Volume: 1 Issue: 3 Pages: 199-203 Published: JUN 1992 |
| Times Cited: 145 References: 38 |
| Abstract: 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. |
| Document Type: Article |
| Language: English |
Addresses:
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, YUGOSLAVIA
8. UNIV REGENSBURG, EYE CLIN, W-8400 REGENSBURG, GERMANY
9. MED UNIV LUBECK, INST HUMAN GENET, LUBECK, GERMANY |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: JC982 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |