Figure 1

Mutations affecting the seed region of miR-142-3p identified in AML patients result in loss of function. (a) Mir142 pre-miR hairpin showing position and nature of individual single nucleotide variants identified in AML and MDS patients. Numbering based on position in pre-miR sequence. Mature miRNA sequences shown in bold with seeds underlined. Wild type miR-142-3p is in green with mutations identified by TCGA in red and those identified by Thol et al. in blue. (b) Luciferase assay showing relative expression of a miR-142-3p reporter construct in cells transduced with empty vector (negative control), WT MIR142 vector (positive control), or vectors expressing MIR142 variants corresponding to each of the three TCGA point mutations—mut55 A > G, mut57 U > C and mut58 G > C. Numbering based on position in pre–miR sequence. Data shown as mean ± standard deviation of relative luminescence activity of firefly luciferase normalized to Renilla luciferase (n = 3).