Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Brief Communication
  • Published:

ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy

Abstract

Mutations in the gene encoding ABCR are responsible for Stargardt macular dystrophy. Here we show by immunofluorescence microscopy and western-blot analysis that ABCR is present in foveal and peripheral cone, as well as rod, photoreceptors. Our results suggest that the loss in central vision experienced by Stargardt patients arises directly from ABCR-mediated foveal cone degeneration.

This is a preview of subscription content, access via your institution

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Prices may be subject to local taxes which are calculated during checkout

Figure 1: Localization of ABCR in foveal cone and rods.
Figure 2: Localization of ABCR in human peripheral cones and rods.

Similar content being viewed by others

References

  1. Allikmets, R. et al. Nature Genet. 15, 236– 246 (1997).

    Article  CAS  Google Scholar 

  2. Cremers, F.P.M. et al. Hum. Mol. Genet. 7, 355– 362 (1998).

    Article  CAS  Google Scholar 

  3. Martinez-Mir, A. et al. Nature Genet. 18, 11– 12 (1998).

    Article  CAS  Google Scholar 

  4. Klevering, B.J. et al. Br. J. Ophthalmol. 83, 914– 918 (1999).

    Article  CAS  Google Scholar 

  5. Allikmets, R. et al. Science 277, 1805– 1807 (1997).

    Article  CAS  Google Scholar 

  6. Stone, E.M. et al. Nature Genet. 20, 328– 329 (1998).

    Article  CAS  Google Scholar 

  7. Sun, H. & Nathans, J. Nature Genet. 17, 15–16 (1997).

    Article  Google Scholar 

  8. Illing, M., Molday, L.L. & Molday, R.S. J. Biol. Chem. 272, 10303– 10310 (1997).

    Article  CAS  Google Scholar 

  9. Osterberg, G. Acta Ophthalmol. 6, 1–103 (1935).

    Google Scholar 

  10. Papermaster, D.S., Reilly, P. & Schneider, B.G. Vision Res. 22, 1417– 1428 (1982).

    Article  CAS  Google Scholar 

  11. Fishman, G.A. et al. Arch. Ophthalmol. 117, 504– 510 (1999).

    Article  CAS  Google Scholar 

  12. Lois, N., Holder, G.E., Fitzke, F.W., Plant, C. & Bird, A.C. Invest. Ophthalmol. Vis. Sci. 40, 2668–2675 (1999).

    CAS  PubMed  Google Scholar 

  13. Sun, H., Molday, R.S. & Nathans, J. J. Biol. Chem. 274, 8269– 8281 (1999).

    Article  CAS  Google Scholar 

  14. Weng, J. et al. Cell 98, 13–23 (1999).

    Article  CAS  Google Scholar 

  15. Eldred, G.E. & Lasky, M.R. Nature 361, 724–726 (1993).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank J. Nathans for providing the ABCR1156-1258, ABCR425-570, green/red cone opsin JH 492 and blue cone opsin JH 455 polyclonal antibodies; J. Hurley for the cone transducin A1.1 antibody; A. Bird for discussions; and the UBC Eye Bank for human donor eyes. Support was provided by grants from the Ruth and Milton Steinbach Foundation, National Eye Institute and the Medical Research Council of Canada.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Robert S. Molday.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Molday, L., Rabin, A. & Molday, R. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nat Genet 25, 257–258 (2000). https://doi.org/10.1038/77004

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/77004

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing