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Unknown,Transcriptomics,Genomics,Proteomics

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RNA-Seq of retina and RPE/choroid tissues from wild type, Abca4 knockout and Abca4 L541P;A1038V knockin mice

ABSTRACT: We report RNA-Seq analysis of the transcriptome of retinas and RPE/choroids from Abca4 knockout, Abca4 L541P;A1038V knockin and control wild type mice in order to better understand changes in gene regulation that could lead to retinal pathology in mice with ABCA4 deficiency/defect. Retinal and RPE/choroidal mRNA profiles of 30-day-old wild type (WT), Abca4-/- and Abca4L541P;A1038V/L541P;A1038V mice were generated by RNA-Seq, using Illumina Hiseq 2500

ORGANISM(S): Mus musculus

SUBMITTER: Ning Zhang

PROVIDER: E-GEOD-63772 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.

Zhang Ning N Tsybovsky Yaroslav Y Kolesnikov Alexander V AV Rozanowska Malgorzata M Swider Malgorzata M Schwartz Sharon B SB Stone Edwin M EM Palczewska Grazyna G Maeda Akiko A Kefalov Vladimir J VJ Jacobson Samuel G SG Cideciyan Artur V AV Palczewski Krzysztof K

Human molecular genetics 20150224 11

Mutations in the ABCA4 gene are a common cause of autosomal recessive retinal degeneration. All mouse models to date are based on knockouts of Abca4, even though the disease is often caused by missense mutations such as the complex allele L541P;A1038V (PV). We now show that the PV mutation causes severe human disease whereas the V mutation alone causes mild disease. Mutant ABCA4 proteins expressed heterologously in mammalian cells retained normal cellular localization. However, basal and all-tra ...[more]

PMID: 25712131

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