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Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

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Abstract

THE murine retinal degeneration slow (rds) gene is a semidominant mutation with a phenotype having rod and cone photoreceptors that develop abnormally and then slowly degenerate1–3. The phenotype is a possible model for retinitis pigmentosa, one of the scores of hereditary human retinal degenerations, which is also characterized by photoreceptor degeneration. We report here three mutations of the human homologue of the rds gene (RDS) that cosegregate with autosomal dominant retinitis pigmentosa in separate families. Our results indicate that some cases of autosomal dominant retinitis pigmentosa are due to mutations at the RDS locus.

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References

  1. Van Nie, R., Iványi, D. & Démant, P. Tissue Antigens 12, 106–108 (1978).

    Article  CAS  Google Scholar 

  2. Sanyal, S., DeRuiter, A. & Hawkins, R. K. J. comp. Neurol. 194, 193–198 (1980).

    Article  CAS  Google Scholar 

  3. Cohen, A. I. Invest. Ophthalmol. Vis. Sci. 24, 832–843 (1983).

    CAS  Google Scholar 

  4. Travis, G. H., Brennan, M. B., Danielson, P. E., Kozak, C. A. & Sutcliffe, J. G. Nature 338, 70–73 (1989).

    Article  ADS  CAS  Google Scholar 

  5. Travis, G. H. et al. Genomics 10, 733–739 (1991).

    Article  CAS  Google Scholar 

  6. Dryja, T. P. et al. Nature 343, 364–366 (1990).

    Article  ADS  CAS  Google Scholar 

  7. Dryja, T. P. et al. New Engl. J. Med. 323, 1302–1307 (1990).

    Article  CAS  Google Scholar 

  8. Inglehearn, C. F. et al. Am. J. Hum. Genet. 48, 26–30 (1991).

    CAS  PubMed  PubMed Central  Google Scholar 

  9. Keen, T. J. et al. Genomics 11, 199–205 (1991).

    Article  CAS  Google Scholar 

  10. Sung, C. H. et al. Proc. natn. Acad. Sci. U.S.A. 88, 6481–6485 (1991).

    Article  ADS  CAS  Google Scholar 

  11. Sheffield, V. C., Fishman, G. A., Beck, J. S., Kimura, A. E. & Stone, E. M. Am. J. Hum. Genet. 49, 699–706 (1991).

    CAS  PubMed  PubMed Central  Google Scholar 

  12. Orita, M., Suzuki, Y., Sekiya, T. & Hayashi, K. Genomics 5, 874–879 (1989).

    Article  CAS  Google Scholar 

  13. Travis, G. H., Sutcliffe, J. G. & Bok D. Neuron 6, 61–70 (1991).

    Article  CAS  Google Scholar 

  14. Connell, G. et al. Proc. natn. Acad. Sci. U.S.A. 88, 723–726 (1991).

    Article  ADS  CAS  Google Scholar 

  15. Connell, G. J. & Molday R. S. Biochemistry 29, 4691–4698 (1990).

    Article  CAS  Google Scholar 

  16. Begy, C. & Bridges, C. D. Nucleic Acids Res. 18, 3058 (1990).

    Article  CAS  Google Scholar 

  17. Yandell, D. W. & Dryja, T. P. Cold Spring Harbor Symposium Series: Cancer Cells 7—Molecular Diagnostics of Human Cancer Cells (eds Furth, M. & Greaves, M.) 223–227 (Cold Spring Harbor Laboratory, New York, 1989).

    Google Scholar 

  18. Berson, E. L. Trans. Am. Acad. Ophthalmol. Otolaryngol. 81, 659–666 (1976).

    Google Scholar 

  19. Reichel, E., Bruce, A. M., Sandberg, M. A. & Berson, E. L. Am. J. Ophtnalmol. 108, 540–547 (1989).

    Article  CAS  Google Scholar 

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Author notes

  1. Gabriel H. Travis: University of Texas Southwestern Medical Center, Department of Psychiatry, Dallas, Texas 75237, USA

  2. Thaddeus P. Dryja: To whom correspondence should be addressed.

Authors and Affiliations

  1. Howe Laboratory of Ophthalmology and the Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, Massachusetts, 02114, USA

    Kazuto Kajiwara, Lauri B. Hahn, Shizuo Mukai, Gabriel H. Travis, Eliot L. Berson & Thaddeus P. Dryja

Authors
  1. Kazuto Kajiwara
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  2. Lauri B. Hahn
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  3. Shizuo Mukai
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  4. Gabriel H. Travis
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  5. Eliot L. Berson
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  6. Thaddeus P. Dryja
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Kajiwara, K., Hahn, L., Mukai, S. et al. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354, 480–483 (1991). https://doi.org/10.1038/354480a0

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  • DOI: https://doi.org/10.1038/354480a0

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