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:

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

Nature Genetics volume 26, pages 270–271 (2000)Cite this article

Abstract

Mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS) rat1 results in defective phagocytosis of photoreceptor outer segments by the retinal pigment epithelium (RPE) and retinal degeneration2,3,4,5,6,7,8,9. We screened the human orthologue, MERTK, located at 2q14.1 (ref. 10), in 328 DNA samples from individuals with various retinal dystrophies and found three mutations in three individuals with retinitis pigmentosa (RP). Our findings are the first conclusive evidence implicating the RPE phagocytosis pathway in human retinal disease.

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

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: MERTK structure and mutations.

Similar content being viewed by others

References

  1. D'Cruz, P.M. et al. Hum. Mol. Genet. 9, 645–652 (2000).

    Article  CAS  Google Scholar 

  2. Bourne, M.C., Campbell, D.A. & Tansley, K. Br. J. Ophthalmol. 22, 613–622 (1938).

    Article  CAS  Google Scholar 

  3. Bourne, M.C. & Gruneberg, H. J. Hered. 30, 130–136 (1939).

    Article  Google Scholar 

  4. Mullen, R.J. & LaVail, M.M. Science 192, 799–801 (1976).

    Article  CAS  Google Scholar 

  5. Dowling, J.E. & Sidman, R.L. J. Cell Biol. 14, 73–109 (1962).

    Article  CAS  Google Scholar 

  6. Young, R.W. & Bok, D. J. Cell Biol. 42, 392–403 (1969).

    Article  CAS  Google Scholar 

  7. Herron, W.L., Riegel, B.W., Myers, O.E. & Rubin, M.L. Invest. Ophthalmol. 8, 595–604 (1969).

    CAS  Google Scholar 

  8. Bok, D. & Hall, M.O. J. Cell Biol. 49, 664–682 (1971).

    Article  CAS  Google Scholar 

  9. Edwards, R.B. & Szamier, R.B. Science 197, 1001–1003 (1977).

    Article  CAS  Google Scholar 

  10. Weier, H.U., Fung, J. & Lersch, R.A. Cytogenet. Cell Genet. 84, 91–92 (1999).

    Article  CAS  Google Scholar 

  11. Graham, D.K., Dawson, T.L., Mullaney, D.L., Snodgrass, H.R. & Earp, H.S. Cell Growth Differ. 5, 647–657 (1994).

    CAS  Google Scholar 

  12. Bunge, S., Fuchs, S. & Gal, A. Methods in Molecular Genetics (ed. Adolf, K.W.) 26–39 (Academic, Orlando, Florida, 1996).

    Book  Google Scholar 

  13. Nickerson, D. et al. Nature Genet. 19, 233–240 (1998).

    Article  CAS  Google Scholar 

  14. Faktorovich, E.G., Steinberg, R.H., Yasumura, D., Matthes, M.T. & LaVail, M.M. Nature 347, 83–86 (1990).

    Article  CAS  Google Scholar 

  15. Li, L. & Turner, J.E. Exp. Eye Res. 47, 911–917 (1988).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank the patients for participation and E. de Castro for help. This work was supported by grants from Foundation Fighting Blindness (A.G., S.G.J.), Deutsche Forschungsgemeinschaft (A.G., E.A.-S.), British Retinitis Pigmentosa Society (A.G., D.A.T.), March of Dimes Birth Defects Foundation (D.V.), Ruth and Milton Steinbach Fund (D.V.), Dr. Lubert Stryer (D.V.), NIH (S.G.J.), Daniel Matzkin Research Fund (S.G.J.) and Research to Prevent Blindness (D.A.T.).

Author information

Authors and Affiliations

  1. Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany

    Andreas Gal, Yun Li & Ulrike Orth

  2. Department of Ophthalmology and Visual Sciences and Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan, USA

    Debra A. Thompson

  3. Department of Genetics, Stanford University School of Medicine, Stanford, California, USA

    Jessica Weir & Douglas Vollrath

  4. Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA

    Samuel G. Jacobson

  5. Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Clinic, Tübingen, Germany

    Eckart Apfelstedt-Sylla

Authors
  1. Andreas Gal
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Yun Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Debra A. Thompson
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jessica Weir
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Ulrike Orth
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Samuel G. Jacobson
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Eckart Apfelstedt-Sylla
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Douglas Vollrath
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Douglas Vollrath.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gal, A., Li, Y., Thompson, D. et al. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet 26, 270–271 (2000). https://doi.org/10.1038/81555

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/81555

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