Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life.
Int J Mol Sci
; 19(2)2018 Feb 01.
Article
en En
| MEDLINE
| ID: mdl-29389897
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Proteínas Cromosómicas no Histona
/
Sistema Nervioso Central
/
Regulación del Desarrollo de la Expresión Génica
/
Proteínas de Ciclo Celular
/
Síndrome de Cornelia de Lange
/
Hematopoyesis
Tipo de estudio:
Qualitative_research
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Int J Mol Sci
Año:
2018
Tipo del documento:
Article
País de afiliación:
Italia