Rxivist logo

Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 64,969 bioRxiv papers from 287,914 authors.

Chromatin features constrain structural variation across evolutionary timescales

By Geoffrey Fudenberg, Katherine S Pollard

Posted 19 Mar 2018
bioRxiv DOI: 10.1101/285205 (published DOI: 10.1073/pnas.1808631116)

The potential impact of structural variants includes not only the duplication or deletion of coding sequences, but also the perturbation of non-coding 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). With this functional role, we hypothesized that boundaries would display evidence for negative selection. Here we demonstrate that the chromatin landscape constrains structural variation both within healthy humans and across primate evolution. In contrast, in patients with developmental delay, variants occur remarkably uniformly across genomic features, suggesting a potentially broad role for enhancer hijacking in human disease.

Download data

  • Downloaded 2,469 times
  • Download rankings, all-time:
    • Site-wide: 1,592 out of 64,979
    • In genomics: 354 out of 4,442
  • Year to date:
    • Site-wide: 8,210 out of 64,979
  • Since beginning of last month:
    • Site-wide: 40,387 out of 64,979

Altmetric data


Downloads over time

Distribution of downloads per paper, site-wide


Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News