Figure 1.
The RNA that causes DM2, r(CCUG)exp, has multiple modes of toxicity. (A) r(CCUG)exp in intron 1 of CNBP folds into a hairpin displaying a periodic array of internal loops that sequester MBNL1. Sequestration of MBNL1 by r(CCUG)exp causes (B) pre-mRNA splicing defects, for example increasing IR exon 11 exclusion.