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Rare genetic variation at transcription factor binding site modulates local DNA methylation profiles

ABSTRACT: Rare genetic variation at transcription factor binding site modulates local DNA methylation profiles

PROVIDER: PRJNA670916 | ENA |

REPOSITORIES: ENA

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Rare genetic variation at transcription factor binding site modulates local DNA methylation profiles

Project description:Recently, it has been proposed that local DNA methylation profiles might be dictated by cis-regulatory DNA sequences that mainly operate via DNA-binding factors. Combining blood genome-wide DNA methylation profiles (Illumina Infinium MethylationEPIC BeadChiP), whole genome sequencing-derived single nucleotide variants (SNVs) along with predicted transcription factor binding site (TFBS), we were able to observe that rare regulatory variants, i.e, SNVs that disrupt TFBSs, are associated with DNA methylation at both local and, to a lesser extent, broader locations. Interestingly, we also observed that this directed DNA methylation can have consequences on genome regulation by altering expression levels of nearby genes.

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