Fig. 4
From: A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD
DNA demethylation is observed at the expanded C9ORF72 promoter distinctively in the brain. Two CpG dinucleotides located within MspI/HpaII restriction sites at positions −313 and +104 base pairs from the C9ORF72 transcriptional start site were interrogated by 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) sensitive PCR. The y-axis indicates percent 5hmC (black) and 5mC (grey) from brain cortex samples for a subset of C9-BAC mice (a, b), error bars represent standard deviation, experiments were performed in duplicates (N = 2 from a single biological sample for each age and methylation status). Assessment of 5hmC enrichment at two restriction sites across tissue types of a 30 week old hypermethylated mouse are illustrated in c and d. Student’s t-test was performed to determine significance, indicated by p < 0.05 *