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 journalArticle

Abstract

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
Volume19
Issue number2
DOIs
Publication statusPublished - Feb 1 2018

Fingerprint

bricks
Brick
genes
Genes
Tissue
rings
mutations
De Lange Syndrome
gene expression regulation
Gene expression regulation
Germ-Line Mutation
Cells
central nervous system
Neurology
organs
animals
coding
Animals
Gene Expression Regulation
disorders

Keywords

  • 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

Cite this

Bettini, L. R., Graziola, F., Fazio, G., Grazioli, P., Scagliotti, V., Pasquini, M., ... Massa, V. (2018). Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life. International Journal of Molecular Sciences, 19(2). https://doi.org/10.3390/ijms19020438

Rings and Bricks : Expression of Cohesin Components is Dynamic during Development and Adult Life. / Bettini, Laura Rachele; Graziola, Federica; Fazio, Grazia; Grazioli, Paolo; Scagliotti, Valeria; Pasquini, Mariavittoria; Cazzaniga, Giovanni; Biondi, Andrea; Larizza, Lidia; Selicorni, Angelo; Gaston-Massuet, Carles; Massa, Valentina.

In: International Journal of Molecular Sciences, Vol. 19, No. 2, 01.02.2018.

Research output: Contribution to journalArticle

Bettini, LR, Graziola, F, Fazio, G, Grazioli, P, Scagliotti, V, Pasquini, M, Cazzaniga, G, Biondi, A, Larizza, L, Selicorni, A, Gaston-Massuet, C & Massa, V 2018, 'Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life', International Journal of Molecular Sciences, vol. 19, no. 2. https://doi.org/10.3390/ijms19020438
Bettini, Laura Rachele ; Graziola, Federica ; Fazio, Grazia ; Grazioli, Paolo ; Scagliotti, Valeria ; Pasquini, Mariavittoria ; Cazzaniga, Giovanni ; Biondi, Andrea ; Larizza, Lidia ; Selicorni, Angelo ; Gaston-Massuet, Carles ; Massa, Valentina. / Rings and Bricks : Expression of Cohesin Components is Dynamic during Development and Adult Life. In: International Journal of Molecular Sciences. 2018 ; Vol. 19, No. 2.
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