Polymer physics of chromosome large-scale 3D organisation

Sci Rep. 2016 Jul 13:6:29775. doi: 10.1038/srep29775.

Abstract

Chromosomes have a complex architecture in the cell nucleus, which serves vital functional purposes, yet its structure and folding mechanisms remain still incompletely understood. Here we show that genome-wide chromatin architecture data, as mapped by Hi-C methods across mammalian cell types and chromosomes, are well described by classical scaling concepts of polymer physics, from the sub-Mb to chromosomal scales. Chromatin is a complex mixture of different regions, folded in the conformational classes predicted by polymer thermodynamics. The contact matrix of the Sox9 locus, a region linked to severe human congenital diseases, is derived with high accuracy in mESCs and its molecular determinants identified by the theory; Sox9 self-assembles hierarchically in higher-order domains, involving abundant many-body contacts. Our approach is also applied to the Bmp7 locus. Finally, the model predictions on the effects of mutations on folding are tested against available data on a deletion in the Xist locus. Our results can help progressing new diagnostic tools for diseases linked to chromatin misfolding.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Chromatin / chemistry*
  • Chromatin / metabolism
  • Chromosomes, Human / chemistry*
  • Chromosomes, Human / metabolism
  • Genetic Loci
  • Humans
  • Mice
  • SOX9 Transcription Factor / chemistry
  • SOX9 Transcription Factor / metabolism
  • Thermodynamics*

Substances

  • Chromatin
  • SOX9 Transcription Factor
  • SOX9 protein, human
  • Sox9 protein, mouse