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Int. J. Mol. Sci. 2018, 19(2), 438; https://doi.org/10.3390/ijms19020438

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

1
Dipartimento di Scienze Della Salute, San Paolo Hospital Medical School, Università degli Studi di Milano, 20142 Milan, Italy
2
Clinica Pediatrica, Dipartimento di Medicina e Chirurgia, Università di Milano-Bicocca Ospedale San Gerardo/Fondazione MBBM, 20900 Monza, Italy
3
Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK
4
Centro Ricerca M. Tettamanti, Clinica Pediatrica, Dipartimento di Medicina e Chirurgia, Università di Milano-Bicocca, Ospedale San Gerardo/Fondazione MBBM, 20900 Monza, Italy
5
Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20154 Milan, Italy
6
UOC Pediatria, ASST Lariana, 22077 Como, Italy
These authors contributed equally to this work.
*
Author to whom correspondence should be addressed.
Received: 11 January 2018 / Revised: 26 January 2018 / Accepted: 28 January 2018 / Published: 1 February 2018
(This article belongs to the Special Issue Rare Diseases: Molecular Mechanisms and Therapeutic Strategies)
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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. View Full-Text
Keywords: cohesin complex; central nervous system; hematopoietic tissues; gene expression cohesin complex; central nervous system; hematopoietic tissues; gene expression
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Bettini, L.R.; Graziola, F.; Fazio, G.; Grazioli, P.; Scagliotti, V.; Pasquini, M.; Cazzaniga, G.; Biondi, A.; Larizza, L.; Selicorni, A.; Gaston-Massuet, C.; Massa, V. Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life. Int. J. Mol. Sci. 2018, 19, 438.

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