SLC7A14 linked to autosomal recessive retinitis pigmentosa

Zi-Bing Jin, Xiu-Feng Huang, Ji-Neng Lv, Lue Xiang, Dong-Qing Li, Jiangfei Chen, Changjiang Huang, Jinyu Wu, Fan Lu and Jia Qu ()
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Zi-Bing Jin: The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University
Xiu-Feng Huang: The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University
Ji-Neng Lv: The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University
Lue Xiang: The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University
Dong-Qing Li: The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University
Jiangfei Chen: Zhejiang Provincial Key Laboratory for Technology and Application of Model Organisms, Institute of Watershed Science and Environmental Ecology, Wenzhou Medical University
Changjiang Huang: Zhejiang Provincial Key Laboratory for Technology and Application of Model Organisms, Institute of Watershed Science and Environmental Ecology, Wenzhou Medical University
Jinyu Wu: Institute of Genomic Medicine, Wenzhou Medical University
Fan Lu: The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University
Jia Qu: The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University

Nature Communications, 2014, vol. 5, issue 1, 1-9

Abstract: Abstract Retinitis pigmentosa (RP) is characterized by degeneration of the retinal photoreceptors and is the leading cause of inherited blindness worldwide. Although few genes are known to cause autosomal recessive RP (arRP), a large proportion of disease-causing genes remain to be revealed. Here we report the identification of SLC7A14, a potential cationic transporter, as a novel gene linked to arRP. Using exome sequencing and direct screening of 248 unrelated patients with arRP, we find that mutations in the SLC7A14 gene account for 2% of cases of arRP. We further demonstrate that SLC7A14 is specifically expressed in the photoreceptor layer of the mammalian retina and its expression increases during postnatal retinal development. In zebrafish, downregulation of slc7a14 expression leads to an abnormal eye phenotype and defective light-induced locomotor response. Furthermore, targeted knockout of Slc7a14 in mice results in retinal degeneration with abnormal ERG response. This suggests that SLC7A14 has an important role in retinal development and visual function.

Date: 2014
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DOI: 10.1038/ncomms4517

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