The ABCR gene in recessive and dominant Stargardt diseases: A genetic pathway in macular degeneration

Genomics

Volumn 60, Issue 2, 1999, Pages 234-237

  Zhang, Kang ^a,b   Kniazeva, Marina ^b   Hutchinson, Amy ^d   Han, Min ^b   Dean, Michael ^c   Allikmets, Rando ^d  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b UNIVERSITY OF COLORADO   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 13Q; CHROMOSOME 6Q; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY; HUMAN; MULTIGENE FAMILY; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; STARGARDT DISEASE;

EID: 0033199359     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1999.5896     Document Type: Article

References (10)

1. Allikmets R., Singh N., Sun H., Shroyer N. F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P., Li Y., Anderson K. L., Lewis R. A., Nathans J., Leppert M., Dean M., Lupski J. R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet. 15:1997;236-246.
2. Allikmets R., Shroyer N. F., Singh N., Seddon J. M., Lewis R. A., Bernstein P. S., Peiffer A., Zabriskie N. A., Li Y., Hutchinson A., Dean M., Lupski J. R., Leppert M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 277:1997;1805-1807.
3. Bressler N. M., Bressler S. B., Fine S. L. Age-related macular degeneration. Surv. Ophthalmol. 32:1988;375-413.
4. Cremers F. P., van de Pol D. J., van Driel M., den Hollander A. I., van Haren F. J., Knoers N. V., Tijmes N., Bergen A. A., Rohrschneider K., Blankenagel A., Pinckers A. J., Deutman A. F., Hoyng C. B. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum. Mol. Genet. 7:1998;355-362.
5. Kaplan J., Gerber S., Larget-Piet D., Rozet J. M., Dollfus H., Dufier J. L., Odent S., Postel-Vinay A., Janin N., Briard M. L. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat. Genet. 5:1993;308-311.
6. Klein R., Klein B. E., Linton K. L. Prevalence of age-related maculopathy. The Beaver Dam Eye Study. Ophthalmology. 99:1992;933-943.
7. Orita M., Iwahana H., Kanazawa H., Hayashi K., Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA. 86:1989;2766-2770.
8. Stone E. M., Nichols B. E., Kimura A. E., Weingeist T. A., Drack A., Sheffield V. C. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch. Ophthalmol. 112:1994;765-772.
9. Zhang K., Bither P. P., Park R., Donoso L. A., Seidman J. G., Seidman C. E. A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch. Ophthalmol. 112:1994;759-764.
10. Zhang K., Nguyen T. H., Crandall A., Donoso L. A. Genetic and molecular studies of macular dystrophies: recent developments. Surv. Ophthalmol. 40:1995;51-61.