title: Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.
abstract: Using a bovine rod photoreceptor cell-specific ATP-binding cassette (ABC) transporter cDNA we have cloned the full-length transcript of the homologous human gene and demonstrate that it is identical to the photoreceptor cell-specific ABC transporter (ABCR) recently shown to be mutated in Stargardt's disease. By fluorescence in situ hybridization we have mapped the ABCR gene to chromosomal band 1p21-p22.1. Mutational analysis of part of the gene in 15 Stargardt's disease patients has identified four disease-causing mutations, of which two represent potential null alleles. This brings the total number of independently identified mutations to 23, providing further evidence that the human ABCR gene is associated with Stargardt's disease.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada.
authors.forename: I
authors.initials: I
authors.lastname: Nasonkin
authors.forename: M
authors.initials: M
authors.lastname: Illing
authors.forename: M R
authors.initials: MR
authors.lastname: Koehler
authors.forename: M
authors.initials: M
authors.lastname: Schmid
authors.forename: R S
authors.initials: RS
authors.lastname: Molday
authors.forename: B H
authors.initials: BH
authors.lastname: Weber
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000096:biosynthesis / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D015870:Gene Expression; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012160:Retina / Q000378:metabolism; D012374:Rod Cell Outer Segment / Q000378:metabolism*
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters