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

Laura Rachele Bettini, Federica Graziola, Grazia Fazio, Paolo Grazioli, Valeria Scagliotti, Mariavittoria Pasquini, Giovanni Cazzaniga, Andrea Biondi, Lidia Larizza, Angelo Selicorni, Carles Gaston-Massuet, Valentina Massa

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
JournalInternational Journal of Molecular Sciences
Issue number2
Publication statusPublished - Feb 1 2018


  • Animals
  • Cell Cycle Proteins/genetics
  • Central Nervous System/embryology
  • Chondroitin Sulfate Proteoglycans/genetics
  • Chromosomal Proteins, Non-Histone/genetics
  • 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


Dive into the research topics of 'Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life'. Together they form a unique fingerprint.

Cite this