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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References
Jiang, M., Pandey, S. & Fong, H.K.W. Invest. Ophthalmol. Vis. Sci. 34, 3669–3678 (1993).
Shen, D. et al. Biochemistry 33, 13117– 13125 (1994).
Pandey, S., Blanks, J.C., Spee, C., Jiang, M. & Fong, H.K.W. Exp. Eye Res. 58, 605– 614 (1994).
Hao, W.S. & Fong, H.K.W. Biochemistry 35, 6251–6256 (1996).
Hao, W. & Fong, H.K.W. J. Biol. Chem. 274, 6085–6090 (1999).
Morimura, H., Berson, E.L. & Dryja, T.P. Invest. Ophthalmol. Vis. Sci. 40, 1000–1004 (1999).
Chen, X.N., Korenberg, J.R., Jiang, M., Shen, D. & Fong, H.K. Hum. Genet. 97, 720–722 (1996).
Seeliger, M.W. et al. Invest. Ophthalmol. Vis. Sci. 40, 3 –11 (1999).
Sung, C.H. et al. Proc. Natl Acad. Sci. USA 88, 6481– 6485 (1991).
Cideciyan, A.V. et al. Proc. Natl Acad. Sci. USA 95, 7103 –7108 (1998).
Sung, C.H., Schneider, B.G., Agarwal, N., Papermaster, D.S. & Nathans, J. Proc. Natl Acad. Sci. USA 88, 8840–8844 (1991).
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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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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DOI: https://doi.org/10.1038/70496
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