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An uncharacterized gene, C7orf26, identified from an autosomal dominant ocular disease functions in mRNA splicing

ABSTRACT: An uncharacterized gene, C7orf26 was expected to function with the integrator complex in mRNA splicing. To address the involvement of mRNA splicing, we performed microarray analysis of HeLa/C7orf26 siRNA cells and HeLa/non-specific (NS) and identified 700 transcripts that were downregulated by 50% or more in C7orf26 siRNA-treated HeLa cells. Gene set enrichment analysis showed that genes tagged with ‘alternative splicing’ or ‘splice variant’ occupy a large fraction of the downregulated genes.

ORGANISM(S): Homo sapiens

PROVIDER: GSE186323 | GEO | 2023/03/08

REPOSITORIES: GEO

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Project description:PurposeTo assess the immunohistochemical and histopathological changes in a subject with Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC).DesignCase study.ParticipantNinety two year-old Caucasian male with ADVIRC.MethodsThe subject was documented clinically for 54 Years. The retina/choroid complex of the right eye was evaluated with cryosections stained with hematoxylin and eosin or periodic acid schiff reagent. Cryosections were also evaluated with immunofluorescence or alkaline phosphatase immunohistochemistry (IHC) using primary antibodies against bestrophin1, GFAP, PEDF, RPE65, TGFβ, VEGF, and vimentin. The left retina and choroid were evaluated as flat mounts using immunofluorescence. UEA lectin was used to stain viable vasculature.Main outcome measuresThe immunohistochemical and histopathological changes in retina and choroid from a subject with ADVIRC.ResultsThe subject had a heterozygous c.248G>A variant in exon 4 of the BEST1 gene. There was widespread chorioretinal degeneration and atrophy except for an island of spared RPE monolayer in the perimacula/macula OU. In this region, some photoreceptors were present, choriocapillaris was spared, and retinal pigment epithelial cells were in their normal disposition. There was a Muller cell periretinal membrane throughout much of the fundus. Bestrophin-1 was not detected or only minimally present by IHC in the ADVIRC RPE, even in the spared RPE area. Beyond the island of retained RPE monolayer on Bruch's membrane (BrMb), there was migration of RPE into the neuro-retina, often ensheathing blood vessels and producing excessive matrix within their perivascular aggregations.ConclusionsThe primary defect in ADVIRC is in RPE, the only cells in the eye that express the BEST1 gene. The dysfunctional RPE cells may go through epithelial/mesenchymal transition as they migrate from BrMb to form papillary aggregations in the neuro-retina, often ensheathing blood vessels. This may be the reason for retinal blood vessel nonperfusion. Migration of RPE from BrMb was also associated with attenuation of the choriocapillaris.

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An uncharacterized gene, C7orf26, identified from an autosomal dominant ocular disease functions in mRNA splicing

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