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.

  • Correspondence
  • Published:

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

Nature Genetics volume 21, pages 355–356 (1999)Cite this article

Retinitis pigmentosa (RP) is the term applied to a clinically and genetically heterogeneous group of retinal degenerations that primarily affects the rod photoreceptors and has a prevalence of approximately 1 in 3,000. RP is characterized by progressive loss of vision, initially manifesting as night blindness and reduction in the peripheral visual field, and later involving loss of central vision. It may be inherited as an autosomal dominant, autosomal recessive, digenic or X-linked trait. Autosomal dominant RP (adRP) accounts for 20-25% of all cases (for review, see ref. 1). There are nine mapped adRP loci, but mutations causing adRP have so far been identified in only two genes: RHO (encoding rhodopsin) and RDS (http://www.sph.uth.tmc.edu/Retnet/disease.htm).

We determined the disease locus and causative gene in a large adRP pedigree (RP251) by full-genome linkage analysis and candidate gene screening. Significant exclusion was obtained for all known adRP loci. Linkage was obtained between adRP and markers at 14q11, with a maximum lod score of 5.72 (θ=0.00) for the marker D14S64.

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

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

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

Figure 1: Identification of NRL mutation.
Figure 2: Effect of the S50T mutation on NRL-mediated transactivation of RHO promoter activity in CV1 cells.

References

  1. Bird, A.C. Am. J. Ophthalmol. 119, 543–562 (1995).

    Article  CAS  Google Scholar 

  2. Farjo, Q. et al. Genomics 45, 395–401 (1997).

    Article  CAS  Google Scholar 

  3. Swaroop, A. et al. Proc. Natl Acad. Sci. USA 89, 266–270 (1992).

    Article  CAS  Google Scholar 

  4. Liu, Q., Ji X., Breitman, M.L., Hitchcock, P.F. & Swaroop, A. Oncogene 12, 207–211 (1996).

    CAS  PubMed  Google Scholar 

  5. Keen, J., Lester, D., Inglehearn, C.F., Curtis, A. & Bhattacharya, S.S. Trends Genet. 7, 5 (1991).

    Article  CAS  Google Scholar 

  6. Rehemtulla, A. et al. Proc. Natl Acad. Sci. USA 93, 191–195 (1996).

    Article  CAS  Google Scholar 

  7. Kumar, R. et al. J. Biol. Chem. 271, 29612–29618 (1996).

    Article  CAS  Google Scholar 

  8. Chen, S.M. et al. Neuron 19, 1017–1030 (1997).

    Article  CAS  Google Scholar 

  9. Freund, C.L. et al. Cell 91, 543–553 (1997).

    Article  CAS  Google Scholar 

  10. Swain, P.K. et al. Neuron 19, 1329–1336 (1997).

    Article  CAS  Google Scholar 

  11. Freund, C.L. et al. Nature Genet. 18, 311–312 (1998).

    Article  CAS  Google Scholar 

  12. Kaufman, R.J. in Gene Amplification in Mammalian Cells–A Comprehensive Guide (ed. Kellems, R.E.) 315–343 (Marcel Dekker, New York, 1992).

    Google Scholar 

  13. Inglehearn, C.F. et al. Hum. Mol. Genet. 1, 41–45 (1992).

    Article  CAS  Google Scholar 

  14. Olsson, J. et al. Neuron 9, 815–830 (1992).

    Article  CAS  Google Scholar 

  15. Humphries, M.M. et al. Nature Genet. 15, 216–219 (1997).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank family members for their participation. D.A.R.B. and A.M.P. are supported by the Medical Research Council of the U.K. (grant no. G9301094) and Q.-L.W. is a recipient of a Knights Templar Foundation fellowship. This research was supported by grants from the National Institutes of Health (EY11115, EY09769), the Foundation Fighting Blindness, Research to Prevent Blindness, The Rebecca P. Moon, Charles M. Moon Jr and Dr P. Thomas Manchester Research Fund, and the Mrs Harry J. Duffey AMD Research Fund. A.S. is a recipient of the Lew R. Wasserman Merit Award and D.J.Z. a Career Development Award, both from Research to Prevent Blindness.

Author information

Author notes

  1. David A.R. Bessant, Annette M. Payne and Kenneth P. Mitton: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Molecular Genetics, Institute of Ophthalmology, University College London,

    David A.R. Bessant, Annette M. Payne & Shomi S. Bhattacharya

  2. Moorfields Eye Hospital, London, UK

    David A.R. Bessant, Catherine Plant & Alan C. Bird

  3. Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan, USA

    Kenneth P. Mitton, Prabodha K. Swain & Anand Swaroop

  4. Department of Ophthalmology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Qing-Liang Wang, Donald J. Zack & Anand Swaroop

  5. Department of Neuroscience, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Donald J. Zack

  6. Department of Molecular Biology and Genetics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Donald J. Zack

Authors
  1. David A.R. Bessant
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Annette M. Payne
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Kenneth P. Mitton
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Qing-Liang Wang
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Prabodha K. Swain
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Catherine Plant
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Alan C. Bird
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Donald J. Zack
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Anand Swaroop
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Shomi S. Bhattacharya
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding authors

Correspondence to Anand Swaroop or Shomi S. Bhattacharya.

Additional information

Department of Human Genetics, W.K. Kellogg Eye Centre, University of Michigan, Ann Arbor, Michigan, USA

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bessant, D., Payne, A., Mitton, K. et al. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat Genet 21, 355–356 (1999). https://doi.org/10.1038/7678

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/7678

This article is cited by

Search

Advanced 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