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Fig. 5 | Clinical Epigenetics

Fig. 5

From: Mendelian inheritance of trimodal CpG methylation sites suggests distal cis-acting genetic effects

Fig. 5

Potential processes leading to a genetically driven methylation site. Three potential processes can lead to an association of a genetic variant and a trimodal distribution of CpG methylation: (1) “Spillover from a neighboring CpG site” that is deleted by a SNP by processes of local methylation maintenance, (2) SNP-induced changes in gene expression activity may have a feedback effect on DNA methylation due to differences in the translation machinery that leaves methylation marks on the DNA, and (3) SNP-induced changes in gene function may induce different levels of gene expression that are implemented by changes in promoter gene methylation

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