title: SLC7A14 linked to autosomal recessive retinitis pigmentosa.
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.
authors.affiliation: 1] The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou 325027, China [2] State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou 325027, China.
authors.forename: Zi-Bing
authors.initials: ZB
authors.lastname: Jin
authors.affiliation: 1] The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou 325027, China [2] State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou 325027, China.
authors.forename: Xiu-Feng
authors.initials: XF
authors.lastname: Huang
authors.affiliation: 1] The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou 325027, China [2] State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou 325027, China.
authors.forename: Ji-Neng
authors.initials: JN
authors.lastname: Lv
authors.affiliation: 1] The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou 325027, China [2] State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou 325027, China.
authors.forename: Lue
authors.initials: L
authors.lastname: Xiang
authors.affiliation: 1] The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou 325027, China [2] State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou 325027, China.
authors.forename: Dong-Qing
authors.initials: DQ
authors.lastname: Li
authors.affiliation: Zhejiang Provincial Key Laboratory for Technology and Application of Model Organisms, Institute of Watershed Science and Environmental Ecology, Wenzhou Medical University, Wenzhou 325027, China.
authors.forename: Jiangfei
authors.initials: J
authors.lastname: Chen
authors.affiliation: Zhejiang Provincial Key Laboratory for Technology and Application of Model Organisms, Institute of Watershed Science and Environmental Ecology, Wenzhou Medical University, Wenzhou 325027, China.
authors.forename: Changjiang
authors.initials: C
authors.lastname: Huang
authors.affiliation: Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325027, China.
authors.forename: Jinyu
authors.initials: J
authors.lastname: Wu
authors.affiliation: 1] The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou 325027, China [2] State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou 325027, China.
authors.forename: Fan
authors.initials: F
authors.lastname: Lu
authors.affiliation: 1] The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou 325027, China [2] State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health, Wenzhou 325027, China.
authors.forename: Jia
authors.initials: J
authors.lastname: Qu
mesh_terms: D000595:Amino Acid Sequence; D027182:Amino Acid Transport System y+ / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics; D005260:Female; D018507:Gene Expression Regulation, Developmental; D055785:Gene Knockdown Techniques; D005808:Genes, Recessive / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007814:Larva / Q000235:genetics / Q000378:metabolism; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D009154:Mutation; D027701:Organic Cation Transport Proteins / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D012160:Retina / Q000196:embryology / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid; D015027:Zebrafish / Q000235:genetics / Q000378:metabolism; D029961:Zebrafish Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D027182:Amino Acid Transport System y+; D027701:Organic Cation Transport Proteins; C000593182:SLC7A14 protein, human; D029961:Zebrafish Proteins