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Fig. 1 | Acta Neuropathologica Communications

Fig. 1

From: Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

Fig. 1

Intron 1 retention in C9orf72 transcripts in lymphoblasts. C9orf72 transcripts were analyzed in lymphoblasts from C9orf72 G4C2 expansion carriers and control individuals. a RT-PCR analysis of poly(A)+ RNA using primers spanning the 5’ splice site (left) or the 3’ splice site (right) of intron 1 demonstrating retention of intron 1in polyadenylated RNA. The position of the primers is indicated on the diagram above the gels. GAPDH was used as a loading control. b Correctly spliced transcripts detected in controls and expansion carrier cells using primers in exons 1a and 2. c Quantitative analysis of intron retention by real-time PCR. Levels of C9orf72 transcripts spliced or unspliced at the 5’ and 3’ end of intron 1 were determined by real-time qRT-PCR. Data are shown as means ± SEM. Each data point represents an individual case, n=15 (C9-); 15 (C9+). No significant differences were observed between the C9 and C9+ groups. d Sequencing of the 3’ PCR product demonstrates an exact intron 1-exon 2 boundary. C9, controls; C9+, expansion carriers

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