Three-dimensional Genome Architecture in Health and Disease

Clin Genet. 2019 Feb;95(2):189-198. doi: 10.1111/cge.13219. Epub 2018 Mar 2.


More than a decade of massive DNA sequencing efforts have generated a large body of genomic, transcriptomic and epigenomic information that has provided a more and more detailed view of the functional elements and transactions within the human genome. Considerable efforts have also focused on linking these elements with one another by mapping their interactions and by establishing 3-dimensional (3D) genomic landscapes in various cell and tissue types. In parallel, multiple studies have associated genomic deletions, duplications and other rearrangements with human pathologies. In this review, we explore recent progresses that have allowed connecting disease-causing alterations with perturbations of the 3D genome organization.

Keywords: 3D genome organization; cohesinopathies; gonadal development; topological associating domains.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosomes, Human
  • Gene Expression Regulation
  • Genetic Association Studies / methods
  • Genetic Predisposition to Disease*
  • Genome, Human*
  • Genomics* / methods
  • Gonads / embryology
  • Gonads / metabolism
  • Health*
  • Humans
  • Muscle Development / genetics