Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life

Int J Mol Sci. 2018 Feb 1;19(2):438. doi: 10.3390/ijms19020438.


Cohesin complex components exert fundamental roles in animal cells, both canonical in cell cycle and non-canonical in gene expression regulation. Germline mutations in genes coding for cohesins result in developmental disorders named cohesinopaties, of which Cornelia de Lange syndrome (CdLS) is the best-known entity. However, a basic description of mammalian expression pattern of cohesins in a physiologic condition is still needed. Hence, we report a detailed analysis of expression in murine and human tissues of cohesin genes defective in CdLS. Using both quantitative and qualitative methods in fetal and adult tissues, cohesin genes were found to be ubiquitously and differentially expressed in human tissues. In particular, abundant expression was observed in hematopoietic and central nervous system organs. Findings of the present study indicate tissues which should be particularly sensitive to mutations, germline and/or somatic, in cohesin genes. Hence, this expression analysis in physiological conditions may represent a first core reference for cohesinopathies.

Keywords: central nervous system; cohesin complex; gene expression; hematopoietic tissues.

MeSH terms

  • Animals
  • Cell Cycle Proteins / genetics*
  • Central Nervous System / embryology
  • Central Nervous System / growth & development
  • Central Nervous System / metabolism*
  • Chondroitin Sulfate Proteoglycans / genetics
  • Chromosomal Proteins, Non-Histone / genetics*
  • DNA-Binding Proteins
  • De Lange Syndrome / genetics*
  • Gene Expression Profiling
  • Gene Expression Regulation, Developmental*
  • Genetic Predisposition to Disease / genetics
  • Hematopoiesis / genetics*
  • Histone Deacetylases / genetics
  • Humans
  • Mice
  • Mutation
  • Nuclear Proteins / genetics
  • Phosphoproteins / genetics
  • Proteins / genetics
  • Repressor Proteins / genetics


  • Cell Cycle Proteins
  • Chondroitin Sulfate Proteoglycans
  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • NIPBL protein, human
  • Nuclear Proteins
  • Phosphoproteins
  • Proteins
  • RAD21 protein, human
  • Repressor Proteins
  • SMC3 protein, human
  • cohesins
  • structural maintenance of chromosome protein 1
  • HDAC8 protein, human
  • Histone Deacetylases