Ontology highlight
ABSTRACT:
SUBMITTER: Fudenberg G
PROVIDER: S-EPMC6369792 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 20190118 6
The potential impact of structural variants includes not only the duplication or deletion of coding sequences, but also the perturbation of noncoding DNA regulatory elements and structural chromatin features, including topological domains (TADs). Structural variants disrupting TAD boundaries have been implicated both in cancer and developmental disease; this likely occurs via "enhancer hijacking," whereby removal of the TAD boundary exposes enhancers to new target transcription start sites (TSSs ...[more]