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Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa

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Abstract

RPE-retinal G-protein-coupled receptor (RGR) is a rhodopsin homologue found exclusively in cells adjacent to the retinal photoreceptor cells1,2,3 (that is, the retinal pigment epithelium and Müller cells). It preferentially binds all-trans retinal rather than 11-cis retinal, which is normally found in rhodopsin2. In mammals, photons of light convert all-trans retinal within RGR to 11-cis retinal4,5, whereas the reverse isomerization reaction occurs in rhodopsin in photoreceptor cells. Here we report two mutations in RGR in patients with photoreceptor degeneration, indicating that RGR is essential to the retina.

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Figure 1: Sequence and segregation of RGR mutations.
Figure 2: Fundus photos of patients with RGR mutations.

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Acknowledgements

We thank J. Wiggs for help with calculating lod scores. This work was supported by grants from the NIH (EY08683, EY00169) and the Foundation Fighting Blindness. T.P.D. is a Research to Prevent Blindness-Senior Scientific Investigator.

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Authors and Affiliations

  1. Ocular Molecular Genetics Institute, Boston , Massachusetts, USA

    Hiroyuki Morimura & Thaddeus P Dryja

  2. Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye & Ear Infirmary, Boston, Massachusetts, USA

    Eliot L Berson

  3. Department of Ophthalmology, Le Mans Hospital, Cedex, 72037, France

    Florence Saindelle-Ribeaudeau

Authors
  1. Hiroyuki Morimura
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  2. Florence Saindelle-Ribeaudeau
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  3. Eliot L Berson
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  4. Thaddeus P Dryja
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Morimura, H., Saindelle-Ribeaudeau, F., Berson, E. et al. Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. Nat Genet 23, 393–394 (1999). https://doi.org/10.1038/70496

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