BERGER, W and MEINDL, A and VANDEPOL, TJR and CREMERS, FPM and ROPERS, HH and DOERNER, C and MONACO, A and BERGEN, AAB and LEBO, R and WARBURG, M and ZERGOLLERN, L and LORENZ, B and GAL, A and BLEEKERWAGEMAKERS, EM and MEITINGER, T (1992) ISOLATION OF A CANDIDATE GENE FOR NORRIE DISEASE BY POSITIONAL CLONING. NATURE GENETICS, 1 (3). pp. 199-203. ISSN 1061-4036,
Full text not available from this repository.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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | LINKED RETINITIS-PIGMENTOSA; POLYMERASE CHAIN-REACTION; CLONED DNA-SEQUENCE; PROXIMAL SHORT ARM; X-CHROMOSOME; PRENATAL-DIAGNOSIS; CLOSE LINKAGE; DELETION; CHOROIDEREMIA; DXS7; |
| Depositing User: | Dr. Gernot Deinzer |
| Last Modified: | 19 Oct 2022 08:44 |
| URI: | https://pred.uni-regensburg.de/id/eprint/54519 |
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