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


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.

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Figure 1: MERTK structure and mutations.

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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.).

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Correspondence to Douglas Vollrath.

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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).

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