Methylation patterns at the adjacent CpG sites within enhancers are a part of cell identity.

ABSTRACT:

Background

It is generally accepted that methylation status of CpG sites spaced up to 50 bp apart is correlated, and accumulation of locally disordered methylation at adjacent CpG sites is involved in neoplastic transformation, acting in similar way as stochastic accumulation of mutations.

Results

We used EPIC microarray data from 596 samples, representing 12 healthy tissue and cell types, as well as 572 blood cancer specimens to analyze methylation status of adjacent CpG sites across human genome, and subsequently validated our findings with NGS and Sanger sequencing. Our analysis showed that there is a subset of the adjacent CpG sites in human genome, with cytosine at one CpG site methylated and the other devoid of methyl group. These loci map to enhancers that are targete

SUBMITTER: Taryma-Lesniak O 

PROVIDER: S-EPMC11465701 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature