Original investigation

Human Genetics

, Volume 102, Issue 1, pp 21-26

First online:

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

  • Igor NasonkinAffiliated withDepartment of Biochemistry and Molecular Biology, University of British Columbia, 2146 Health Sciences Mall, Vancouver, British Columbia V6T 1Z3, Canada
  • , Michelle IllingAffiliated withDepartment of Biochemistry and Molecular Biology, University of British Columbia, 2146 Health Sciences Mall, Vancouver, British Columbia V6T 1Z3, Canada
  • , Michael R. KoehlerAffiliated withInstitut für Humangenetik, Biozentrum, Am Hubland, D-97074 Würzburg, Germany Tel.: +49-931-888-4062; Fax: +49-931-888-4069 e-mail: bweb@biozentrum.uni-wuerzburg.de
  • , Michael SchmidAffiliated withInstitut für Humangenetik, Biozentrum, Am Hubland, D-97074 Würzburg, Germany Tel.: +49-931-888-4062; Fax: +49-931-888-4069 e-mail: bweb@biozentrum.uni-wuerzburg.de
  • , Robert S. MoldayAffiliated withDepartment of Biochemistry and Molecular Biology, University of British Columbia, 2146 Health Sciences Mall, Vancouver, British Columbia V6T 1Z3, Canada
  • , B. H. F. WeberAffiliated withInstitut für Humangenetik, Biozentrum, Am Hubland, D-97074 Würzburg, Germany Tel.: +49-931-888-4062; Fax: +49-931-888-4069 e-mail: bweb@biozentrum.uni-wuerzburg.de

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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.