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Fig. 3 | Genome Biology

Fig. 3

From: A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation

Fig. 3

ARE-forming mutation of SLC4A4 and its effects on post-transcriptional regulation. a A scheme showing the ARE-forming mutation (underlined) as a result of the G to A substitution and constructs used in the study. b Several cell types, as indicated, were co-transfected with nanoluciferase (NanoLuc) reporter fused with WT SLC4A4 3′UTR or the ARE-forming mutant -SLC4A4 3′UTR together with control firefly luciferase expression vector, for 16 h. Cells were lysed and luciferase activity was quantitated as ratio of Nanoluc/Firefly luc intensity. Data are mean + SEM of triplicate readings of three experiments for each cell line. Statistical significance was assessed by Student’s t-test (*** P < 0.0001)

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