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| A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy |
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| Author(s): Allikmets R, Singh N, Sun H, Shroyer NE, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li YX, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR |
| Source: NATURE GENETICS Volume: 15 Issue: 3 Pages: 236-246 Published: MAR 1997 |
| Times Cited: 493 References: 77 |
| Abstract: Stargardt disease (STGD, also known as fundus flavimaculatus; FFM) is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to the 2-cM (centiMorgan) interval at 1p13-p21 previously shown by linkage analysis to harbour the STGD gene. This gene, ABCR, is expressed exclusively and at high levels in the retina, in rod but not cone photoreceptors, as detected by in situ hybridization. Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage. These data indicate that ABCR is the causal gene of STGD/FFM. |
| Document Type: Article |
| Language: English |
Addresses:
1. NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, LAB GEN DIVERS, FREDERICK, MD 21702 USA
2. NCI, FREDERICK CANC RES & DEV CTR, SAIC FREDERICK, INTRAMURAL RES SUPPORT PROGRAM, FREDERICK, MD 21702 USA
3. UNIV UTAH, DEPT HUMAN GENET, SALT LAKE CITY, UT 84112 USA
4. JOHNS HOPKINS UNIV, SCH MED, DEPT MOL BIOL & GENET, BALTIMORE, MD 21205 USA
5. JOHNS HOPKINS UNIV, SCH MED, DEPT NEUROSCI, BALTIMORE, MD 21205 USA
6. JOHNS HOPKINS UNIV, SCH MED, DEPT OPHTHALMOL, BALTIMORE, MD 21205 USA
7. JOHNS HOPKINS UNIV, SCH MED, HOWARD HUGHES MED INST, BALTIMORE, MD 21205 USA
8. BAYLOR COLL MED, DEPT MOL & HUMAN GENET, HOUSTON, TX 77030 USA
9. BAYLOR COLL MED, DEPT PEDIAT, HOUSTON, TX 77030 USA
10. BAYLOR COLL MED, DEPT OPHTHALMOL, HOUSTON, TX 77030 USA
11. BAYLOR COLL MED, DEPT MED, HOUSTON, TX 77030 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: WK386 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |