Figure 3

Comparison of 5-hmC and 5-mC enrichment in two different gene regions of the RELN, GAD1, GAD2 and correlations between 5-hmc enrichment in the promoter regions of RELN and GAD1 with the respective mRNA levels in the cerebella of CON and ASD. (a) Increased enrichment of 5-hmC at the promoters of RELN ((−220 to +70 bp) (*P=0.026)) and GAD1 ((−55 to +121 bp), (*P=0.047)), but not GAD2 ((−1507 to −1310 bp), (P=0.36)) in cerebella of ASD vs CON. No changes in the enrichment of 5-hmC at the gene bodies of RELN ((+562 to +763 bp), (P=0.22)), GAD1 ((+562 to +763 bp), (P=0.53)) and GAD2 ((+1293 to +1447 bp), (P=0.46)) in cerebella of ASD vs CON. (b) No changes in the enrichment of 5-mC at the promoter of RELN ((−220 to +70 bp), (P=0.91)), GAD1 ((−55 to +121 bp), (P=0.67)) and GAD2 ((−1507 to −1310 bp), (P=0.36)) in cerebellum of ASD vs CON. There were no changes in the enrichment of 5-mC at body regions of RELN ((+562 to +763 bp), (P=0.16)), GAD1 ((+656 to +856), (P=0.11)) and GAD2 body ((+1293 to +1447 bp), (P=0.46)) in cerebella of ASD vs CON. (c) Statistically significant correlation of 5-hmC in the promoter of GAD1 ((−55 to +121 bp), (Pearson r2=−0.40, *P=0.036)) and RELN ((−220 to +70 bp), (Pearson r2=−0.65, *P=0.01)) with corresponding mRNA levels in ASD samples. No significant correlations between 5-mC content in the promoters of GAD1 ((−55 to +121 bp), (Pearson r2=−0.14, P=0.71)) and RELN ((−220 to +70 bp) vs ASD (Pearson r2=−0.10, P=0.75)) with mRNA levels were evident in ASD (vs CON) samples. ASD, autism spectrum disorder; CON, control; GAD1, glutamic acid decarboxylase 67; GAD2, glutamic acid decarboxylase 65; RELN, Reelin.