Potential non-B DNA regions in the human genome are associated with higher rates of nucleotide mutation and expression variation.

ABSTRACT: While individual non-B DNA structures have been shown to impact gene expression, their broad regulatory role remains elusive. We utilized genomic variants and expression quantitative trait loci (eQTL) data to analyze genome-wide variation propensities of potential non-B DNA regions and their relation to gene expression. Independent of genomic location, these regions were enriched in nucleotide variants. Our results are consistent with previously observed mutagenic properties of these regions and counter a previous study concluding that G-quadruplex regions have a reduced frequency of variants. While such mutagenicity might undermine functionality of these elements, we identified in potential non-B DNA regions a signature of negative selection. Yet, we found a depletion of eQTL-associated v

SUBMITTER: Du X 

PROVIDER: S-EPMC4227770 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature