{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nishiguchi KM"],"funding":["Medical Research Council","National Institute for Health Research (NIHR)"],"pagination":["6006"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4354202"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["6"],"pubmed_abstract":["The rd1 mouse with a mutation in the Pde6b gene was the first strain of mice identified with a retinal degeneration. However, AAV-mediated gene supplementation of rd1 mice only results in structural preservation of photoreceptors, and restoration of the photoreceptor-mediated a-wave, but not in restoration of the bipolar cell-mediated b-wave. Here we show that a mutation in Gpr179 prevents the full restoration of vision in rd1 mice. Backcrossing rd1 with C57BL6 mice reveals the complete lack of b-wave in a subset of mice, consistent with an autosomal recessive Mendelian inheritance pattern. We identify a mutation in the Gpr179 gene, which encodes for a G-protein coupled receptor localized to the dendrites of ON-bipolar cells. Gene replacement in rd1 mice that are devoid of the mutation in "],"journal":["Nature communications"],"pubmed_title":["Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179."],"pmcid":["PMC4354202"],"funding_grant_id":["NIHR-RP-011-003","NF-SI-0513-10074","MR/K025589/1","MR/J005215/1"],"pubmed_authors":["Holthaus SM","Luhmann UF","Rizzi M","Carvalho LS","Azam SA","Duran Y","Ribeiro J","Bainbridge JW","Powell K","Nishiguchi KM","Smith AJ","Ali RR"],"additional_accession":[]},"is_claimable":false,"name":"Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179.","description":"The rd1 mouse with a mutation in the Pde6b gene was the first strain of mice identified with a retinal degeneration. However, AAV-mediated gene supplementation of rd1 mice only results in structural preservation of photoreceptors, and restoration of the photoreceptor-mediated a-wave, but not in restoration of the bipolar cell-mediated b-wave. Here we show that a mutation in Gpr179 prevents the full restoration of vision in rd1 mice. Backcrossing rd1 with C57BL6 mice reveals the complete lack of b-wave in a subset of mice, consistent with an autosomal recessive Mendelian inheritance pattern. We identify a mutation in the Gpr179 gene, which encodes for a G-protein coupled receptor localized to the dendrites of ON-bipolar cells. Gene replacement in rd1 mice that are devoid of the mutation in ","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015 Jan","modification":"2025-04-21T20:29:54.137Z","creation":"2019-03-27T01:47:52Z"},"accession":"S-EPMC4354202","cross_references":{"pubmed":["25613321"],"doi":["10.1038/ncomms7006"]}}