Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease

• Published in: Human genetics Vol. 102; no. 1; pp. 21 - 26
• Main Authors: NASONKIN, I, ILLING, M, KOEHLER, M. R, SCHMID, M, MOLDAY, R. S, WEBER, B. H. F
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-01-1998; Berlin; New York, NY
• Subjects: ATP-Binding Cassette Transporters - biosynthesis; ATP-Binding Cassette Transporters - genetics; Biological and medical sciences; chromosome 1; Chromosome Mapping; Chromosomes, Human, Pair 1 - genetics; Cloning, Molecular; DNA Mutational Analysis; Gene Expression; Humans; Macular Degeneration - genetics; Medical sciences; Molecular Sequence Data; Mutation; Ophthalmology; Pedigree; Retina - metabolism; Retinopathies; Rod Cell Outer Segment - metabolism; Stargardt's disease; Genetic mapping; Human; Retinopathy; Rod; Stargardt chorioretinal degeneration; Photoreceptor; Chromosome A1; Retina; Genetic disease; Eye disease; Gene; ABC Transporter; Mutation; Carrier protein
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s004390050649

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.