HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model.
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model.
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DOI：
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发表时间：
2000-10
影响因子：
4.4
通讯作者：
Akira Kobayashi;T. Higashide;D. Hamasaki;S. Kubota;H. Sakuma;W. An;T. Fujimaki;M. McLaren;R. Weleber;G. Inana
中科院分区：
文献类型：
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作者：
Akira Kobayashi;T. Higashide;D. Hamasaki;S. Kubota;H. Sakuma;W. An;T. Fujimaki;M. McLaren;R. Weleber;G. Inana
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 mutation found. 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 mutated.
