Human Genetics

, Volume 102, Issue 1, pp 21–26

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

Authors

  • Igor Nasonkin
    • Department of Biochemistry and Molecular Biology, University of British Columbia, 2146 Health Sciences Mall, Vancouver, British Columbia V6T 1Z3, Canada
  • Michelle Illing
    • Department of Biochemistry and Molecular Biology, University of British Columbia, 2146 Health Sciences Mall, Vancouver, British Columbia V6T 1Z3, Canada
  • Michael R. Koehler
    • Institut 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 Schmid
    • Institut 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. Molday
    • Department of Biochemistry and Molecular Biology, University of British Columbia, 2146 Health Sciences Mall, Vancouver, British Columbia V6T 1Z3, Canada
  • B. H. F. Weber
    • Institut 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
Original investigation

DOI: 10.1007/s004390050649

Cite this article as:
Nasonkin, I., Illing, M., Koehler, M. et al. Hum Genet (1998) 102: 21. doi:10.1007/s004390050649

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.

Copyright information

© Springer-Verlag Berlin Heidelberg 1998