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

Bettini, L., Graziola, F., Fazio, G., Grazioli, P., Scagliotti, V., Pasquini, M., et al. (2018). Rings and bricks: Expression of cohesin components is dynamic during development and adult life. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 19(2) [10.3390/ijms19020438].

Rings and bricks: Expression of cohesin components is dynamic during development and adult life

Bettini, LR;Fazio, G;Cazzaniga, G;Biondi, A;
2018

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
Articolo in rivista - Articolo scientifico
Central nervous system; Cohesin complex; Gene expression; Hematopoietic tissues; Catalysis; Molecular Biology; Spectroscopy; Computer Science Applications1707 Computer Vision and Pattern Recognition; Physical and Theoretical Chemistry; Organic Chemistry; Inorganic Chemistry
English
Bettini, L., Graziola, F., Fazio, G., Grazioli, P., Scagliotti, V., Pasquini, M., et al. (2018). Rings and bricks: Expression of cohesin components is dynamic during development and adult life. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 19(2) [10.3390/ijms19020438].
Bettini, L; Graziola, F; Fazio, G; Grazioli, P; Scagliotti, V; Pasquini, M; Cazzaniga, G; Biondi, A; Larizza, L; Selicorni, A; Gaston-Massuet, C; Massa, V
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/196727
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