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Akira Kobayashi, Tomomi Higashide, Duco Hamasaki, Shinya Kubota, Hitoshi Sakuma, Weijun An, Takuro Fujimaki, Margaret J. McLaren, Richard G. Weleber, George Inana; HRG4 (UNC119) Mutation Found in Cone–Rod Dystrophy Causes Retinal Degeneration in a Transgenic Model. Invest. Ophthalmol. Vis. Sci. 2000;41(11):3268-3277.
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purpose. To investigate the function and pathogenicity of HRG4, a photoreceptor
synaptic protein homologous to the Caenorhabditis
elegans neuroprotein UNC119.
methods. HRG4 was screened for mutations in patients with various retinopathies,
and a transgenic mouse model was constructed and analyzed based on a
results. A heterozygous premature termination codon mutation was found in a
57-year-old woman with late-onset cone–rod dystrophy. In some
transgenic mice carrying the identical mutation, age-dependent fundus
lesions developed accompanied by electroretinographic changes
consistent with defects in photoreceptor synaptic transmission
(depressed b-wave, normal c-wave), and retinal degeneration occurred
with marked synaptic and possible transsynaptic degeneration.
conclusions. HRG4, the only synaptic protein known to be highly enriched in
photoreceptor ribbon synapses, is now shown to be pathogenic when
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