{"_links":{"self":{"href":"/api/v2/datasets/doi%3A10.5061%2Fdryad.3vv31qq"},"stash:versions":{"href":"/api/v2/datasets/doi%3A10.5061%2Fdryad.3vv31qq/versions"},"stash:version":{"href":"/api/v2/versions/22723"},"stash:download":{"href":"/api/v2/datasets/doi%3A10.5061%2Fdryad.3vv31qq/download"},"curies":[{"name":"stash","href":"https://github.com/datadryad/dryad-app/blob/main/documentation/apis/link_relations.md#{rel}","templated":"true"}]},"identifier":"doi:10.5061/dryad.3vv31qq","id":22659,"storageSize":36607394,"relatedPublicationISSN":"1553-7404","title":"Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa","authors":[{"firstName":"Lin","lastName":"Li","affiliation":"National Institutes of Health","affiliationROR":"https://ror.org/01cwqze88","affiliations":[{"name":"National Institutes of Health","ror_id":"https://ror.org/01cwqze88"}]},{"firstName":"Xiaodong","lastName":"Jiao","affiliation":"National Institutes of Health","affiliationROR":"https://ror.org/01cwqze88","affiliations":[{"name":"National Institutes of Health","ror_id":"https://ror.org/01cwqze88"}]},{"firstName":"Ilaria","lastName":"D’Atri"},{"firstName":"Fumihito","lastName":"Ono","affiliation":"National Institutes of Health","affiliationROR":"https://ror.org/01cwqze88","affiliations":[{"name":"National Institutes of Health","ror_id":"https://ror.org/01cwqze88"}]},{"firstName":"Ralph","lastName":"Nelson","affiliation":"National Institutes of Health","affiliationROR":"https://ror.org/01cwqze88","affiliations":[{"name":"National Institute of Neurological Disorders and Stroke","ror_id":"https://ror.org/01s5ya894"},{"name":"National Institutes of Health","ror_id":"https://ror.org/01cwqze88"}]},{"firstName":"Chi-Chao","lastName":"Chan","affiliation":"National Institutes of Health","affiliationROR":"https://ror.org/01cwqze88","affiliations":[{"name":"National Institutes of Health","ror_id":"https://ror.org/01cwqze88"}]},{"firstName":"Naoki","lastName":"Nakaya","affiliation":"National Institutes of Health","affiliationROR":"https://ror.org/01cwqze88","affiliations":[{"name":"National Institutes of Health","ror_id":"https://ror.org/01cwqze88"}]},{"firstName":"Zhiwei","lastName":"Ma","affiliation":"National Institutes of Health","affiliationROR":"https://ror.org/01cwqze88","affiliations":[{"name":"National Institutes of Health","ror_id":"https://ror.org/01cwqze88"}]},{"firstName":"Yan","lastName":"Ma","affiliation":"National Institutes of Health","affiliationROR":"https://ror.org/01cwqze88","affiliations":[{"name":"National Institutes of Health","ror_id":"https://ror.org/01cwqze88"}]},{"firstName":"Xiaoying","lastName":"Cai","affiliation":"University of Science and Technology of China","affiliationROR":"https://ror.org/04c4dkn09","affiliations":[{"name":"University of Science and Technology of China","ror_id":"https://ror.org/04c4dkn09"}]},{"firstName":"Longhua","lastName":"Zhang","affiliation":"University of Science and Technology of China","affiliationROR":"https://ror.org/04c4dkn09","affiliations":[{"name":"University of Science and Technology of China","ror_id":"https://ror.org/04c4dkn09"}]},{"firstName":"Siying","lastName":"Lin"},{"firstName":"Abdul","lastName":"Hameed"},{"firstName":"Barry A.","lastName":"Chioza"},{"firstName":"Holly","lastName":"Hardy"},{"firstName":"Gavin","lastName":"Arno","affiliation":"University College London","affiliationROR":"https://ror.org/02jx3x895","affiliations":[{"name":"University College London","ror_id":"https://ror.org/02jx3x895"}]},{"firstName":"Sarah","lastName":"Hull","affiliation":"University College London","affiliationROR":"https://ror.org/02jx3x895","affiliations":[{"name":"University College London","ror_id":"https://ror.org/02jx3x895"}]},{"firstName":"Muhammad Imran","lastName":"Khan","affiliation":"COMSATS University Islamabad","affiliationROR":"https://ror.org/00nqqvk19","affiliations":[{"name":"COMSATS University Islamabad","ror_id":"https://ror.org/00nqqvk19"}]},{"firstName":"James","lastName":"Fasham"},{"firstName":"V. Gaurav","lastName":"Harlalka"},{"firstName":"Michel","lastName":"Michaelides","affiliation":"University College London","affiliationROR":"https://ror.org/02jx3x895","affiliations":[{"name":"University College London","ror_id":"https://ror.org/02jx3x895"}]},{"firstName":"Anthony T.","lastName":"Moore","affiliation":"University College London","affiliationROR":"https://ror.org/02jx3x895","affiliations":[{"name":"University College London","ror_id":"https://ror.org/02jx3x895"}]},{"firstName":"Zeynep Hande","lastName":"Coban Akdemir"},{"firstName":"Shalini","lastName":"Jhangiani"},{"firstName":"James R.","lastName":"Lupski"},{"firstName":"Frans P.M.","lastName":"Cremers"},{"firstName":"Raheel","lastName":"Qamar","affiliation":"COMSATS University Islamabad","affiliationROR":"https://ror.org/00nqqvk19","affiliations":[{"name":"COMSATS University Islamabad","ror_id":"https://ror.org/00nqqvk19"}]},{"firstName":"Ahmed","lastName":"Salman","affiliation":"University of Southampton","affiliationROR":"https://ror.org/01ryk1543","affiliations":[{"name":"University of Southampton","ror_id":"https://ror.org/01ryk1543"}]},{"firstName":"John","lastName":"Chilton"},{"firstName":"Jay","lastName":"Self","affiliation":"University of Southampton","affiliationROR":"https://ror.org/01ryk1543","affiliations":[{"name":"University of Southampton","ror_id":"https://ror.org/01ryk1543"}]},{"firstName":"Radha","lastName":"Ayyagari","affiliation":"University of California San Diego","affiliationROR":"https://ror.org/0168r3w48","affiliations":[{"name":"University of California San Diego","ror_id":"https://ror.org/0168r3w48"}]},{"firstName":"Firoz","lastName":"Kabir","affiliation":"Johns Hopkins Medicine","affiliationROR":"https://ror.org/037zgn354","affiliations":[{"name":"University of the Punjab","ror_id":"https://ror.org/011maz450"},{"name":"Johns Hopkins Medicine","ror_id":"https://ror.org/037zgn354"}]},{"firstName":"Muhammad Asif","lastName":"Naeem","affiliation":"University of the Punjab","affiliationROR":"https://ror.org/011maz450","affiliations":[{"name":"University of the Punjab","ror_id":"https://ror.org/011maz450"}]},{"firstName":"Muhammad","lastName":"Ali","affiliation":"Johns Hopkins Medicine","affiliationROR":"https://ror.org/037zgn354","affiliations":[{"name":"University of the Punjab","ror_id":"https://ror.org/011maz450"},{"name":"Johns Hopkins Medicine","ror_id":"https://ror.org/037zgn354"}]},{"firstName":"Javed","lastName":"Akram"},{"firstName":"Paul A.","lastName":"Sieving","affiliation":"National Institutes of Health","affiliationROR":"https://ror.org/01cwqze88","affiliations":[{"name":"National Institutes of Health","ror_id":"https://ror.org/01cwqze88"}]},{"firstName":"Sheikh","lastName":"Riazuddin","affiliation":"University of the Punjab","affiliationROR":"https://ror.org/011maz450","affiliations":[{"name":"University of the Punjab","ror_id":"https://ror.org/011maz450"}]},{"firstName":"Emma L.","lastName":"Baple"},{"firstName":"Sheikh Amer","lastName":"Riazuddin","affiliation":"Johns Hopkins Medicine","affiliationROR":"https://ror.org/037zgn354","affiliations":[{"name":"Johns Hopkins Medicine","ror_id":"https://ror.org/037zgn354"}]},{"firstName":"Andrew H.","lastName":"Crosby"},{"firstName":"J. Fielding","lastName":"Hejtmancik","affiliation":"National Institutes of Health","affiliationROR":"https://ror.org/01cwqze88","affiliations":[{"name":"National Institutes of Health","ror_id":"https://ror.org/01cwqze88"}]},{"firstName":"Frans P. M.","lastName":"Cremers","affiliation":"Radboud University Nijmegen","affiliationROR":"https://ror.org/016xsfp80","affiliations":[{"name":"Radboud University Nijmegen","ror_id":"https://ror.org/016xsfp80"}]}],"abstract":"We identified a homozygous missense alteration (c.75C\u003eA, 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.","keywords":["chloride channel","Retinitis pigmentosa","Homo Sapiens","Holocene"],"usageNotes":"\u003cdiv class=\"o-metadata__file-usage-entry\"\u003e\u003ch4 class=\"o-heading__level3-file-title\"\u003eRaw data\u003c/h4\u003e\u003cdiv class=\"o-metadata__file-description\"\u003eThis submission includes three files:1) WES vcf file for individual 12 of Family 1, 2)WES vcf file for Individual 5 of family 6, and 3) SNP chip data for all individuals shown in figure S2.\u003c/div\u003e\u003cdiv class=\"o-metadata__file-name\"\u003e\u003c/div\u003e\u003c/div\u003e","locations":[{"place":"Great Britain"},{"place":"Bangladesh"},{"place":"Pakistan"}],"relatedWorks":[{"relationship":"primary_article","identifierType":"DOI","identifier":"https://doi.org/10.1371/journal.pgen.1007504"}],"versionNumber":1,"versionStatus":"submitted","curationStatus":"Published","versionChanges":"none","publicationDate":"2019-07-23","lastModificationDate":"2020-06-30","visibility":"public","sharingLink":"http://datadryad.org/dataset/doi:10.5061/dryad.3vv31qq","changedFields":["none"],"license":"https://spdx.org/licenses/CC0-1.0.html","metrics":{"views":951,"downloads":352,"citations":1}}