期刊
HUMAN MOLECULAR GENETICS
卷 26, 期 12, 页码 2218-2230出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddx111
关键词
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资金
- Intramural Research Program of the National Eye Institute [EY000450, EY000546]
- National Key Basic Research Program [2013CB967502]
- National Natural Science Foundation of China [81371059, 81522014]
- National Cancer Institute [HHSN26120080001E]
In retinal photoreceptors, vectorial transport of cargo is critical for transduction of visual signals, and defects in intracellular trafficking can lead to photoreceptor degeneration and vision impairment. Molecular signatures associated with routing of transport vesicles in photoreceptors are poorly understood. We previously reported the identification of a novel rod photoreceptor specific isoform of Receptor Expression Enhancing Protein (REEP) 6, which belongs to a family of proteins involved in intracellular transport of receptors to the plasma membrane. Here we show that loss of REEP6 in mice (Reep6(-/-)) results in progressive retinal degeneration. Rod photoreceptor dysfunction is observed in Reep6(-/-) mice as early as one month of age and associated with aberrant accumulation of vacuole-like structures at the apical inner segment and reduction in selected rod phototransduction proteins. We demonstrate that REEP6 is detected in a subset of Clathrin-coated vesicles and interacts with the t-SNARE, Syntaxin3. In concordance with the rod degeneration phenotype in Reep6(-/-) mice, whole exome sequencing identified homozygous REEP6-E75K mutation in two retinitis pigmentosa families of different ethnicities.
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