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. Author manuscript; available in PMC: 2015 Oct 10.
Published in final edited form as: Brain Res. 2014 Feb 12;1584:15–21. doi: 10.1016/j.brainres.2014.02.015

Figure 1.

Figure 1

The C9orf72 promoter is hypermethylated in one c9FTD patient. (A) Schematic representation showing the three known transcript variants of C9orf72; V1: NM_145005.5, V2: NM_018325.3, V3: NM_001256054.1. Red triangles mark the repeat location. Red brackets mark the amplified region after the first PCR run. The two CpG islands located at the 5' and 3' end of the repeat region are shown in green. (B) Chromatograms showing sequence amplification of the CpG island located at the 5' end of the repeat region after bisulfite treatment of the DNA isolated from cerebellum. The top panel shows the reference sequence. The middle panel shows a section of the sequence obtained from the c9FTD patient hypermethylated at the C9orf72 promoter region (c9FTD/ALS sample # 8, see Table 1). The last panel shows a section of the sequence obtained from a c9FTD patient in whom no methylated sites were identified (c9FTD/ALS sample #4, see Table 1). Blue line over thymines in the reference sequence marks sites of bisulfite conversion from cytosines. CpG sites are highlighted in orange. (C) Bar graph representing the number of samples showing hypermethylation, low methylation, or no methylation of the CpG island located at the 5' end of the repeat region in cerebellum of each group.