Fig. 2

The DFNA5 gene with annotation of the 22 CpGs. The 10 exons and the promoter and gene body region of the DFNA5 gene are indicated. These annotations (GRCh37) were made based on the “Regulatory build of the DFNA5 gene” in Ensembl. We considered the core promoter (7:24796400-24797601) together with the flanking regions (7:24795602-24798199) as the putative promoter of DFNA5. On basis of this annotation, six CpGs are located in the DFNA5 gene body, 15 CpGs are located in the DFNA5 promoter, and one CpG is located upstream of the DFNA5 promoter. Using these annotations, CpG06301139 strictly belongs to the promoter of DFNA5. However, in this study, we considered CpG06301139 still part of the upstream promoter region because the methylation pattern is clearly different from the other promoter CpGs and it is located 24 base pairs from the border of the flanking region of the DFNA5 promoter. In addition to the 22 CpGs analyzed in this study (green dots), the four CpGs analyzed in our previous study (pink dots, [36]) and the TaqMan probe (6FAM 5′-ATTCGACCCCGCGAAAAAACGCCGCT-3′-TAMRA) of the study of Kim et al. (blue dot, [35]) are annotated. The transcription start site and the translation start site are indicated with an orange dot and a red dot, respectively