Pervasive promoter hypermethylation of silenced TERT alleles in human cancers.

ABSTRACT:

Background

In cancers, maintenance of telomeres often occurs through activation of the catalytic subunit of telomerase, encoded by TERT. Yet, most cancers show only modest levels of TERT gene expression, even in the context of activating hotspot promoter mutations (C228T and C250T). The role of epigenetic mechanisms, including DNA methylation, in regulating TERT gene expression in cancer cells is as yet not fully understood.

Methods

Here, we have carried out the most comprehensive characterization to date of TERT promoter methylation using ultra-deep bisulfite sequencing spanning the CpG island surrounding the core TERT promoter in 96 different human cell lines, including primary, immortalized and cancer cell types, as well as in control and reference samples.

Results

SUBMITTER: Esopi D 

PROVIDER: S-EPMC7581602 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature