title: Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.
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.
authors.affiliation: Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: Y
authors.initials: Y
authors.lastname: Li
authors.forename: D A
authors.initials: DA
authors.lastname: Thompson
authors.forename: J
authors.initials: J
authors.lastname: Weir
authors.forename: U
authors.initials: U
authors.lastname: Orth
authors.forename: S G
authors.initials: SG
authors.lastname: Jacobson
authors.forename: E
authors.initials: E
authors.lastname: Apfelstedt-Sylla
authors.forename: D
authors.initials: D
authors.lastname: Vollrath
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D000818:Animals; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003001:Cloning, Molecular; D003062:Codon / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004195:Disease Models, Animal; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005808:Genes, Recessive; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010587:Phagocytosis; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011518:Proto-Oncogene Proteins; D022821:RNA Splice Sites / Q000235:genetics; D051381:Rats; D011919:Rats, Inbred Strains / Q000235:genetics*; D020794:Receptor Protein-Tyrosine Kinases / Q000172:deficiency / Q000235:genetics*; D012162:Retinal Degeneration / Q000201:enzymology / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D012174:Retinitis Pigmentosa / Q000201:enzymology / Q000235:genetics*; D012374:Rod Cell Outer Segment / Q000473:pathology; D012376:Rodent Diseases / Q000201:enzymology / Q000235:genetics*; D017384:Sequence Deletion; D013045:Species Specificity; D013728:Terminator Regions, Genetic / Q000235:genetics; D000076202:c-Mer Tyrosine Kinase
chemical_list: D003062:Codon; D005136:Eye Proteins; D011518:Proto-Oncogene Proteins; D022821:RNA Splice Sites; C097072:MERTK protein, human; C490765:Mertk protein, rat; D020794:Receptor Protein-Tyrosine Kinases; D000076202:c-Mer Tyrosine Kinase