Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin

Nat Commun. 2021 May 18;12(1):2919. doi: 10.1038/s41467-021-23141-9.

Abstract

Cornelia de Lange Syndrome (CdLS) is a human developmental disorder caused by mutations that compromise the function of cohesin, a major regulator of 3D genome organization. Cognitive impairment is a universal and as yet unexplained feature of CdLS. We characterize the transcriptional profile of cortical neurons from CdLS patients and find deregulation of hundreds of genes enriched for neuronal functions related to synaptic transmission, signalling processes, learning and behaviour. Inducible proteolytic cleavage of cohesin disrupts 3D genome organization and transcriptional control in post-mitotic cortical mouse neurons, demonstrating that cohesin is continuously required for neuronal gene expression. The genes affected by acute depletion of cohesin belong to similar gene ontology classes and show significant numerical overlap with genes deregulated in CdLS. Interestingly, reconstitution of cohesin function largely rescues altered gene expression, including the expression of genes deregulated in CdLS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Cell Cycle Proteins / genetics*
  • Cell Cycle Proteins / metabolism
  • Cells, Cultured
  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosomal Proteins, Non-Histone / metabolism
  • Cohesins
  • De Lange Syndrome / genetics*
  • De Lange Syndrome / metabolism
  • Gene Expression Profiling / methods
  • Gene Expression Regulation*
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Middle Aged
  • Mutation*
  • Neurons / metabolism*
  • Young Adult

Substances

  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • NIPBL protein, human