Skip to main content

Thank you for visiting 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.

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

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


  1. 1

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

    CAS  Article  Google Scholar 

  2. 2

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

    CAS  Article  Google Scholar 

  3. 3

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

    CAS  Article  Google Scholar 

  4. 4

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

    CAS  PubMed  Google Scholar 

  5. 5

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

    CAS  Article  Google Scholar 

  6. 6

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

    CAS  Article  Google Scholar 

  7. 7

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

    CAS  Article  Google Scholar 

  8. 8

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

    CAS  Article  Google Scholar 

  9. 9

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

    CAS  Article  Google Scholar 

  10. 10

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

    CAS  Article  Google Scholar 

  11. 11

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

    CAS  Article  Google Scholar 

  12. 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. 13

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

    CAS  Article  Google Scholar 

  14. 14

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

    CAS  Article  Google Scholar 

  15. 15

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

    CAS  Article  Google Scholar 

Download references


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



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).

Download citation

Further reading


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