International Journal of Molecular Sciences (Feb 2018)

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

DOI
https://doi.org/10.3390/ijms19020438
Journal volume & issue
Vol. 19, no. 2
p. 438

Abstract

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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.

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