Fig. 4

Representation of the differentially methylated region across the MLH1 locus in blood and colorectal mucosa from case 29, MLH1 epimutation carriers (n = 12), Lynch syndrome genetic mutation carriers (n = 61), and healthy controls (n = 41). Representation of the differentially methylated region across the MLH1 locus in blood DNA (a) and in normal colorectal mucosa (b). β-values obtained from Infinium 450k Human Methylation array analysis are displayed as a log (mean β-value × 100) against the genomic coordinate for each CpG site interrogated. The relative locations of the CpG sites are not drawn to scale. CpG sites are located between Chr3:36,985,516-37,219,077 coordinates. Above, CpG islands (CI) are represented as black rectangles and their shores are represented in gray. The location of the Deng regions (DR) A, B, C and D of the MLH1 promoter are indicated by white rectangles. Genes (G) containing the displayed CpG sites are represented as gray rectangles, using the Ensembl GRCh37 database as the reference for gene coordinates