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Int J Mol Sci. 2018 Feb 1;19(2). pii: E438. doi: 10.3390/ijms19020438.

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

Author information

1
Dipartimento di Scienze Della Salute, San Paolo Hospital Medical School, Università degli Studi di Milano, 20142 Milan, Italy. laurarbettini@gmail.com.
2
Clinica Pediatrica, Dipartimento di Medicina e Chirurgia, Università di Milano-Bicocca Ospedale San Gerardo/Fondazione MBBM, 20900 Monza, Italy. laurarbettini@gmail.com.
3
Dipartimento di Scienze Della Salute, San Paolo Hospital Medical School, Università degli Studi di Milano, 20142 Milan, Italy. federica.graziola@fastwebnet.it.
4
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. federica.graziola@fastwebnet.it.
5
Centro Ricerca M. Tettamanti, Clinica Pediatrica, Dipartimento di Medicina e Chirurgia, Università di Milano-Bicocca, Ospedale San Gerardo/Fondazione MBBM, 20900 Monza, Italy. grazia.fazio@unimib.it.
6
Dipartimento di Scienze Della Salute, San Paolo Hospital Medical School, Università degli Studi di Milano, 20142 Milan, Italy. paolo.grazioli@unimi.it.
7
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. v.scagliotti@qmul.ac.uk.
8
Dipartimento di Scienze Della Salute, San Paolo Hospital Medical School, Università degli Studi di Milano, 20142 Milan, Italy. marvi.pasquini@gmail.com.
9
Centro Ricerca M. Tettamanti, Clinica Pediatrica, Dipartimento di Medicina e Chirurgia, Università di Milano-Bicocca, Ospedale San Gerardo/Fondazione MBBM, 20900 Monza, Italy. gianni.cazzaniga@asst-monza.it.
10
Clinica Pediatrica, Dipartimento di Medicina e Chirurgia, Università di Milano-Bicocca Ospedale San Gerardo/Fondazione MBBM, 20900 Monza, Italy. andrea.biondi@unimib.it.
11
Centro Ricerca M. Tettamanti, Clinica Pediatrica, Dipartimento di Medicina e Chirurgia, Università di Milano-Bicocca, Ospedale San Gerardo/Fondazione MBBM, 20900 Monza, Italy. andrea.biondi@unimib.it.
12
Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20154 Milan, Italy. lidia.larizza@unimi.it.
13
UOC Pediatria, ASST Lariana, 22077 Como, Italy. angelo.selicorni61@gmail.com.
14
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. c.gaston-massuet@qmul.ac.uk.
15
Dipartimento di Scienze Della Salute, San Paolo Hospital Medical School, Università degli Studi di Milano, 20142 Milan, Italy. valentina.massa@unimi.it.

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.

KEYWORDS:

central nervous system; cohesin complex; gene expression; hematopoietic tissues

PMID:
29389897
PMCID:
PMC5855660
DOI:
10.3390/ijms19020438
[Indexed for MEDLINE]
Free PMC Article

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