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A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

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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.

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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
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  2. Annette M. Payne
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  3. Kenneth P. Mitton
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  4. Qing-Liang Wang
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  5. Prabodha K. Swain
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  6. Catherine Plant
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  7. Alan C. Bird
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  8. Donald J. Zack
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  9. Anand Swaroop
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  10. Shomi S. Bhattacharya
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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

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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

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