Figure 2: Exon skipping induced by the c.753G>A variant in AKR1A1 (IMAGE)

Tokyo Metropolitan Institute of Medical Science

Figure 2: Exon skipping induced by the c.753G>A variant in AKR1A1

Caption

(A) An outline of the splicing assay is shown. Exon 8 skipping was confirmed using cDNA generated from HEK293, SH-SY5Y, and 1321N1 cells expressing minigenes for WT or c.753G>A variant (mutant [MT]). (B) The results of the splicing assay are shown. The upper band indicates products including exons 7–9, whereas the lower band shows exon 8 skipping products, including only exons 7 and 9. (C) Data represent the mean of three independent experiments for the splicing assay. (D) GST and GST-AKR1A1s were purified and separated by sodium dodecyl sulfate polyacrylamide gel electrophoresis. (E) AKR1A1 activity of the purified GST-AKR1A1s was determined. AKR1A1 produced by the c.753G>A variant and c.264delC exhibited decreased enzymatic activity.

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