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Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3268-77.

HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model.

Author information

  • 1Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami School of Medicine, Florida, USA.

Abstract

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.

PMID:
11006213
[PubMed - indexed for MEDLINE]
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