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

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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5855660/
https://www.ncbi.nlm.nih.gov/pubmed/29389897
http://dx.doi.org/10.3390/ijms19020438
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author 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
author_facet 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
author_sort Bettini, Laura Rachele
collection PubMed
description 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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spelling pubmed-58556602018-03-20 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 Int J Mol Sci Article 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. MDPI 2018-02-01 /pmc/articles/PMC5855660/ /pubmed/29389897 http://dx.doi.org/10.3390/ijms19020438 Text en © 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
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
title Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life
title_full Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life
title_fullStr Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life
title_full_unstemmed Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life
title_short Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life
title_sort rings and bricks: expression of cohesin components is dynamic during development and adult life
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5855660/
https://www.ncbi.nlm.nih.gov/pubmed/29389897
http://dx.doi.org/10.3390/ijms19020438
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