A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
| Autor: | Kent L. Anderson, Amy Hutchinson, Jeremy Nathans, Noah F. Shroyer, Amir Rattner, Mark Leppert, Bernard Gerrard, Abirami Chidambaram, James R. Lupski, Dora Stauffer, Yixin Li, Lisa Baird, Hui Sun, Philip M. Smallwood, Rando Allikmets, Richard A. Lewis, Michael Dean, Nanda A. Singh, Andy Peiffer |
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| Rok vydání: | 1997 |
| Předmět: |
Genetic Markers
Male Retinal Disorder genetic structures Molecular Sequence Data ABCA4 Gene Expression Genes Recessive Polymerase Chain Reaction Photoreceptor cell Gene product Centimorgan Consanguinity Macular Degeneration Mice Gene mapping Genetics medicine Animals Humans Point Mutation Photoreceptor Cells Amino Acid Sequence Polymorphism Single-Stranded Conformational DNA Primers Sequence Deletion Polymorphism Genetic biology Base Sequence Sequence Homology Amino Acid Homozygote Chromosome Mapping Exons Macular dystrophy medicine.disease Molecular biology eye diseases Introns Recombinant Proteins Stargardt disease medicine.anatomical_structure Mutation biology.protein ATP-Binding Cassette Transporters Female sense organs |
| Zdroj: | Nature genetics. 15(3) |
| ISSN: | 1061-4036 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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