Tissue and cancer-specific expression of DIEXF is epigenetically mediated by an Alu repeat.

ABSTRACT: Alu repeats constitute a major fraction of human genome and for a small subset of them a role in gene regulation has been described. The number of studies focused on the functional characterization of particular Alu elements is very limited. Most Alu elements are DNA methylated and then assumed to lie in repressed chromatin domains. We hypothesize that Alu elements with low or variable DNA methylation are candidates for a functional role. In a genome-wide study in normal and cancer tissues, we pinpointed an Alu repeat (AluSq2) with differential methylation located upstream of the promoter region of the DIEXF gene. DIEXF encodes a highly conserved factor essential for the development of zebrafish digestive tract. To characterize the contribution of the Alu element to the regul

SUBMITTER: Martin B 

PROVIDER: S-EPMC7574385 | biostudies-literature | 2020 Jun - Jul

REPOSITORIES: biostudies-literature