PUBLICATION
SLC7A14 linked to autosomal recessive retinitis pigmentosa
- Authors
- Jin, Z.B., Huang, X.F., Lv, J.N., Xiang, L., Li, D.Q., Chen, J., Huang, C., Wu, J., Lu, F., Qu, J.
- ID
- ZDB-PUB-140513-270
- Date
- 2014
- Source
- Nature communications 5: 3517 (Journal)
- Registered Authors
- Keywords
- none
- MeSH Terms
-
- Amino Acid Sequence
- Amino Acid Transport System y+/genetics*
- Animals
- Base Sequence
- DNA Mutational Analysis
- Exome/genetics
- Female
- Gene Expression Regulation, Developmental
- Gene Knockdown Techniques
- Genes, Recessive/genetics*
- Genetic Predisposition to Disease/genetics*
- Humans
- Larva/genetics
- Larva/metabolism
- Male
- Mice
- Mice, Inbred C57BL
- Mice, Knockout
- Mutation
- Organic Cation Transport Proteins/genetics*
- Organic Cation Transport Proteins/metabolism
- Pedigree
- Retina/embryology
- Retina/metabolism
- Retinitis Pigmentosa/genetics*
- Retinitis Pigmentosa/metabolism
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Homology, Amino Acid
- Zebrafish/genetics
- Zebrafish/metabolism
- Zebrafish Proteins/genetics
- Zebrafish Proteins/metabolism
- PubMed
- 24670872 Full text @ Nat. Commun.
Citation
Jin, Z.B., Huang, X.F., Lv, J.N., Xiang, L., Li, D.Q., Chen, J., Huang, C., Wu, J., Lu, F., Qu, J. (2014) SLC7A14 linked to autosomal recessive retinitis pigmentosa. Nature communications. 5:3517.
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping