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

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Abstract

Mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS) rat results in defective phagocytosis of photoreceptor outer segments by the retinal pigment epithelium (RPE) and retinal degeneration. 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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Journal

Journal ID (iso-abbrev): Nat Genet

Title: Nature genetics

Publisher: Springer Science and Business Media LLC

ISSN: 1061-4036

ISSN (Print): 1061-4036

Publication date (Electronic): Nov 2000

Volume: 26

Issue: 3

Affiliations

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

Article

DOI: 10.1038/81555

PubMed ID: 11062461

SO-VID: 5fb03cb6-e32c-4ea8-99ad-60e69f55036e

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