Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.
摘要：
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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关键词：
Chromosomes, Human, Pair 2 Animals Rats, Inbred Strains Humans Rats Retinitis Pigmentosa Retinal Degeneration Disease Models, Animal Rodent Diseases Receptor Protein-Tyrosine Kinases
DOI：
10.1038/81555
被引量：
年份：
2000
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