Figure 2

Physical map of the TAC1 promoter region and differential DNA methylation in lymphoblastoid cell lines. (A) TAC1 is shown 5′ → 3′ on the positive strand (chr7:97,199,050 to 97,200,050). Direction of gene transcription (arrowheads) and transcription start site (TSS; arrow) are indicated. The differentially methylated region overlaps with a large CpG island that includes the TSS. CpG Island Track from UCSC Human Genome Browser hg18 (black bar); Illumina (ILMN) probe (grey bar); Sequenom (SEQ) target region (white bar) with CpGs (horizontal lines); chromatin immunoprecipitation (ChIP) PCR amplicon (striped bar). Locus diagram is drawn to scale. (B) Tukey post-hoc pair-wise comparisons of TAC1 DNA methylation (%) assayed using ILMN (cg14221171) and validated using SEQ (CpG site 5). DNA methylation for each sample (circles) and group mean (horizontal bar) are shown for each clinical group. *P <0.05, **P <0.01, ***P <0.005. AUT, autism; CTL, control; RTT, Rett syndrome; SEZ, seizure disorder.