Figure 2 | Scientific Reports

Figure 2

From: Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression

Figure 2

Neither SOD1 nor C9orf72 CpG islands are differentially methylated between mutation-positive ALS-discordant twins/triplets. The relative location of targeted CpG islands (CGI) and exon 1 are indicated for SOD1 (A, top) and C9orf72 (B, top). (A) Methylation of the CpG island spanning the promoter region and exon 1 of SOD1 does not show differential methylation between an ALS-affected triplet and unaffected co-triplets, concordant for SOD1 p.I114T. Methylation status was determined using both EpiTYPER (bottom) and 450K (middle) assays. (B) Transcript variants (T1, T2, and T3) and the position of the repeat expansion (black diamond) relative to exon 1 are shown for C9orf72 (top). Methylation of the C9orf72 promoter region/expansion flanking CpG islands are not differentially methylated between ALS-discordant co-twins that carry the C9orf72 hexanucleotide repeat expansion in either EpiTYPER (bottom) or 450K data sets (middle).

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