Fig. 4.
The upstream CpG methylation in the DMPK locus increases over differentiation in DM1 samples but does not affect the expression of DMPK and its flanking genes. (A) Average methylation levels of the CpG sites upstream of the CTG repeat in each sample. The upstream methylation is shown for 23 CpG sites and all epi-alleles were analysed after massive parallel sequencing for three DM1 and three non-DM1 cell lines (one-way ANOVA: VUB03-DM1 1: P<0.0001 2: P<0.0001 3: P<0.0001, VUB24-DM1: P<0.0001, VUB19-DM1: P=0.2989, VUB02: P=0.710, VUB06: P=0.326, VUB01: P=0.977; *** indicates significant differences). (B) mRNA levels of DMPK, SIX5 and DMWD over the course of myogenic differentiation. Samples are grouped according to their CpG methylation status upstream of the CTG repeat. Data are presented as mean±s.e.m. TMM, trimmed mean of M values; SC, hESC; MB, myoblasts; MT, myotubes.