 |
|
Title
|
|
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.
|
|
|
Authors
|
|
A.Gal,
Y.Li,
D.A.Thompson,
J.Weir,
U.Orth,
S.G.Jacobson,
E.Apfelstedt-Sylla,
D.Vollrath.
|
|
|
Ref.
|
|
Nat Genet, 2000,
26,
270-271.
|
|
|
PubMed id
|
|
|
|
|
|
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.
|
|
|
|