Skip to main content
. Author manuscript; available in PMC: 2015 Feb 1.
Published in final edited form as: Nat Struct Mol Biol. 2014 Jul 20;21(8):712–720. doi: 10.1038/nsmb.2858

Figure 6.

Figure 6

NMD downregulation causes an increase in CUG repeat mRNA foci number in myotonic dystrophy 1 patient fibroblast cells. (A) SM-FISH of DM1-affected or normal human fibroblast cells in which UPF1 was downregulated relative to control non-transfected or transfected with scrambled siRNAs (mock) cells. The DM1 human fibroblast cell line used expressed the gene dmpk bearing 2000CUG in its 3′UTR. (B) Histogram represents the distribution of the number of foci in DM1 cells that were downregulated for UPF1, mock and non-transfected controls. UPF1 downregulation led to a significant increase in the number of nuclear foci present relative to mock (p<0.0001) and non-transfected cells (p<0.00003), using t-student test. N indicates the total number of cells analyzed. Two independent experiments were performed. Bar, 5μm.