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) 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

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Contact customer support SIMILAR CONTENT BEING VIEWED BY OTHERS A _DHDDS_ K42E KNOCK-IN RP59 MOUSE MODEL SHOWS INNER RETINA PATHOLOGY AND DEFECTIVE SYNAPTIC TRANSMISSION Article Open access

13 July 2023 MUTATIONS WITHIN THE CGMP-BINDING DOMAIN OF CNGA1 CAUSING AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA IN HUMAN AND ANIMAL MODEL Article Open access 17 September 2022 NATIONWIDE

GENETIC ANALYSIS OF MORE THAN 600 FAMILIES WITH INHERITED EYE DISEASES IN ARGENTINA Article Open access 22 May 2023 REFERENCES * D'Cruz, P.M. et al. _Hum. Mol. Genet._ 9, 645–652

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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.). AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany Andreas Gal, Yun Li & Ulrike Orth * Department of

Ophthalmology and Visual Sciences and Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan, USA Debra A. Thompson * Department of Genetics,

Stanford University School of Medicine, Stanford, California, USA Jessica Weir & Douglas Vollrath * Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania,

Philadelphia, Pennsylvania, USA Samuel G. Jacobson * Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Clinic, Tübingen, Germany Eckart Apfelstedt-Sylla Authors

* Andreas Gal View author publications You can also search for this author inPubMed Google Scholar * Yun Li View author publications You can also search for this author inPubMed Google

Scholar * Debra A. Thompson View author publications You can also search for this author inPubMed Google Scholar * Jessica Weir View author publications You can also search for this author

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publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to Douglas Vollrath. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS

ARTICLE CITE THIS ARTICLE 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). https://doi.org/10.1038/81555 Download citation * Issue Date: November 2000 * DOI: https://doi.org/10.1038/81555 SHARE THIS ARTICLE Anyone you share the following link with

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