Figure 1 | Scientific Reports

Figure 1

From: Gene duplication, rather than epigenetic changes, drives FGF4 overexpression in KIT/PDGFRA/SDH/RAS-P WT GIST

Figure 1

CpG methylation in quadruple WT and SDH-deficient GISTs. (A) Violin plot showing the B-value of global CpG methylation evaluated using the Infinium Human Methylation 450 BeadChip in GISTs. (B) Bar plot showing the absence of correlation between FGF4 CpG methylation and FGF4 mRNA expression. The B-value of the CpG island located at the FGF4 locus is shown in the left panel, and the gene expression level (log2TPM) of FGF4 is shown on the right. The t-test statistic was used (* < 0.05; *0.01). (C) Methylation level of the FGF insulator region evaluated through comparative enzymatic digestion in an extended cohort of GISTs (6 FGF4-positive quadruple WT, 26 SDH-deficient and 17 KIT mutant). (D) Box plot showing the copy number of the FGF insulator region (the two TaqMan assays, covering upstream and downstream regions of the insulator, were performed) of quadruple WT in comparison with KIT mutant and SDH-deficient GISTs. In quadruple WT cases, the FGF insulator was duplicated (three copies), which is similar to FGF4.

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