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. Author manuscript; available in PMC: 2018 Jul 6.
Published in final edited form as: Nature. 2017 Jun 28;547(7661):55–60. doi: 10.1038/nature22992

Figure 2. Functional characterization of promoter mutations.

Figure 2

Luciferase reporter assays show functional impact of mutations on gene expression. Individual data points (black) overlap summary statistic boxplots (grey) with the median indicated by black horizontal bar. P values calculated with two-sided Student’s t-test. EMSA with WT and mutant (Mut.) promoter oligonucleotides. Reporter assay and EMSA for FOXA1 (a) and RMRP (b) promoter mutations show increase in reporter expression and increased protein binding in mutant versus WT sequences. c, Reporter assay and EMSA for NEAT1 promoter mutations depict decrease in expression and loss of protein binding for three (of four) mutations.