Chromatin loop anchors are associated with genome instability in cancer and recombination hotspots in the germline.

ABSTRACT:

Background

Chromatin loops form a basic unit of interphase nuclear organization, with chromatin loop anchor points providing contacts between regulatory regions and promoters. However, the mutational landscape at these anchor points remains under-studied. Here, we describe the unusual patterns of somatic mutations and germline variation associated with loop anchor points and explore the underlying features influencing these patterns.

Results

Analyses of whole genome sequencing datasets reveal that anchor points are strongly depleted for single nucleotide variants (SNVs) in tumours. Despite low SNV rates in their genomic neighbourhood, anchor points emerge as sites of evolutionary innovation, showing enrichment for structural variant (SV) breakpoints and a peak of SNVs at foc

SUBMITTER: Kaiser VB 

PROVIDER: S-EPMC6066925 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature