Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
dc.contributor.author | Li, L | |
dc.contributor.author | Jiao, X | |
dc.contributor.author | D'Atri, I | |
dc.contributor.author | Ono, F | |
dc.contributor.author | Nelson, R | |
dc.contributor.author | Chan, C-C | |
dc.contributor.author | Nakaya, N | |
dc.contributor.author | Ma, Z | |
dc.contributor.author | Ma, Y | |
dc.contributor.author | Cai, X | |
dc.contributor.author | Zhang, L | |
dc.contributor.author | Lin, S | |
dc.contributor.author | Hameed, A | |
dc.contributor.author | Chioza, BA | |
dc.contributor.author | Hardy, H | |
dc.contributor.author | Arno, G | |
dc.contributor.author | Hull, S | |
dc.contributor.author | Khan, MI | |
dc.contributor.author | Fasham, J | |
dc.contributor.author | Harlalka, GV | |
dc.contributor.author | Michaelides, M | |
dc.contributor.author | Moore, AT | |
dc.contributor.author | Coban Akdemir, ZH | |
dc.contributor.author | Jhangiani, S | |
dc.contributor.author | Lupski, JR | |
dc.contributor.author | Cremers, FPM | |
dc.contributor.author | Qamar, R | |
dc.contributor.author | Salman, A | |
dc.contributor.author | Chilton, J | |
dc.contributor.author | Self, J | |
dc.contributor.author | Ayyagari, R | |
dc.contributor.author | Kabir, F | |
dc.contributor.author | Naeem, MA | |
dc.contributor.author | Ali, M | |
dc.contributor.author | Akram, J | |
dc.contributor.author | Sieving, PA | |
dc.contributor.author | Riazuddin, S | |
dc.contributor.author | Baple, EL | |
dc.contributor.author | Riazuddin, SA | |
dc.contributor.author | Crosby, AH | |
dc.contributor.author | Hejtmancik, JF | |
dc.date.accessioned | 2022-03-03T13:57:57Z | |
dc.date.issued | 2018-08-29 | |
dc.date.updated | 2022-03-03T12:07:44Z | |
dc.description.abstract | We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent. The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules within the ER lumen, while siRNA knockdown of CLCC1 mRNA induced apoptosis in cultured ARPE-19 cells. TALEN KO in zebrafish was lethal 11 days post fertilization. The depressed electroretinogram (ERG) cone response and cone spectral sensitivity of 5 dpf KO zebrafish and reduced eye size, retinal thickness, and expression of rod and cone opsins could be rescued by injection of wild type CLCC1 mRNA. Clcc1+/- KO mice showed decreased ERGs and photoreceptor number. Together these results strongly suggest that intracellular chloride transport by CLCC1 is a critical process in maintaining retinal integrity, and CLCC1 is crucial for survival and function of retinal cells. | en_GB |
dc.format.extent | e1007504- | |
dc.format.medium | Electronic-eCollection | |
dc.identifier.citation | Vol. 14 (8), article e1007504 | en_GB |
dc.identifier.doi | https://doi.org/10.1371/journal.pgen.1007504 | |
dc.identifier.uri | http://hdl.handle.net/10871/128929 | |
dc.identifier | ORCID: 0000-0002-6432-4931 (D'Atri, Ilaria) | |
dc.identifier | ORCID: 0000-0003-1122-8396 (Lin, Siying) | |
dc.identifier | ORCID: 0000-0002-3546-1726 (Chioza, Barry A) | |
dc.identifier | ScopusID: 6603239784 (Chioza, Barry A) | |
dc.identifier | ResearcherID: C-1586-2008 (Chioza, Barry A) | |
dc.identifier | ORCID: 0000-0002-7614-9202 (Fasham, James) | |
dc.identifier | ORCID: 0000-0002-6637-3411 (Baple, Emma L) | |
dc.identifier | ScopusID: 16506238900 (Baple, Emma L) | |
dc.identifier | ORCID: 0000-0003-3667-9054 (Crosby, Andrew H) | |
dc.language.iso | en | en_GB |
dc.publisher | Public Library of Science (PLoS) | en_GB |
dc.relation.url | https://www.ncbi.nlm.nih.gov/pubmed/30157172 | en_GB |
dc.relation.url | https://doi.org/10.5061/dryad.3vv31qq | en_GB |
dc.rights | © 2018 This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication. | en_GB |
dc.subject | Animals | en_GB |
dc.subject | Asians | en_GB |
dc.subject | Cell Line | en_GB |
dc.subject | Chloride Channels | en_GB |
dc.subject | Cytoplasm | en_GB |
dc.subject | Eye Proteins | en_GB |
dc.subject | HEK293 Cells | en_GB |
dc.subject | Homozygote | en_GB |
dc.subject | Humans | en_GB |
dc.subject | Mice | en_GB |
dc.subject | Mice, Knockout | en_GB |
dc.subject | Mutation, Missense | en_GB |
dc.subject | Pakistan | en_GB |
dc.subject | Retina | en_GB |
dc.subject | Retinal Cone Photoreceptor Cells | en_GB |
dc.subject | Retinal Rod Photoreceptor Cells | en_GB |
dc.subject | Retinitis Pigmentosa | en_GB |
dc.subject | Zebrafish | en_GB |
dc.title | Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa | en_GB |
dc.type | Article | en_GB |
dc.date.available | 2022-03-03T13:57:57Z | |
dc.identifier.issn | 1553-7390 | |
exeter.article-number | ARTN e1007504 | |
exeter.place-of-publication | United States | |
dc.description | This is the final version. Available on open access from Public Library of Science via the DOI in this record | en_GB |
dc.description | Data Availability: Exome and genome .vcf files and SNP array data are available from Dryad Digital Repository: https://doi.org/10.5061/dryad.3vv31qq | en_GB |
dc.identifier.eissn | 1553-7404 | |
dc.identifier.journal | PLoS Genetics | en_GB |
dc.relation.ispartof | PLoS Genet, 14(8) | |
dc.rights.uri | https://creativecommons.org/publicdomain/zero/1.0/ | en_GB |
dcterms.dateAccepted | 2018-06-21 | |
rioxxterms.version | VoR | en_GB |
rioxxterms.licenseref.startdate | 2018-08-29 | |
rioxxterms.type | Journal Article/Review | en_GB |
refterms.dateFCD | 2022-03-03T13:33:29Z | |
refterms.versionFCD | VoR | |
refterms.dateFOA | 2022-03-03T14:01:30Z | |
refterms.panel | A | en_GB |
refterms.dateFirstOnline | 2018-08-29 |
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Except where otherwise noted, this item's licence is described as © 2018 This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication.