Author
Listed:
- Zi-Bing Jin
(The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University
State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health)
- Xiu-Feng Huang
(The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University
State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health)
- Ji-Neng Lv
(The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University
State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health)
- Lue Xiang
(The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University
State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health)
- Dong-Qing Li
(The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University
State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health)
- 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
State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health)
- Jia Qu
(The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University
State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health)
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.
Suggested Citation
Zi-Bing Jin & Xiu-Feng Huang & Ji-Neng Lv & Lue Xiang & Dong-Qing Li & Jiangfei Chen & Changjiang Huang & Jinyu Wu & Fan Lu & Jia Qu, 2014.
"SLC7A14 linked to autosomal recessive retinitis pigmentosa,"
Nature Communications, Nature, vol. 5(1), pages 1-9, May.
Handle:
RePEc:nat:natcom:v:5:y:2014:i:1:d:10.1038_ncomms4517
DOI: 10.1038/ncomms4517
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