Gene regulation and chromatin organization: relevance of cohesin mutations to human disease.
Curr Opin Genet Dev
; 37: 59-66, 2016 04.
Article
en En
| MEDLINE
| ID: mdl-26821365
Consistent with the diverse roles of the cohesin complex in chromosome biology, mutations in genes encoding cohesin and its regulators are found in different types of cancer and in developmental disorders such as Cornelia de Lange Syndrome. It is so far considered that the defects caused by these mutations result from altered function of cohesin in regulating gene expression during development. Chromatin conformation analyses have established the importance of cohesin for the architecture of developmental gene clusters and in vivo studies in mouse and zebrafish demonstrated how cohesin defects lead to gene misregulation and to malformations similar to the related human syndromes. Here we present our current knowledge on cohesin's involvement in gene expression, highlighting molecular and mechanistic consequences of pathogenic mutations in the Cornelia de Lange syndrome.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromatina
/
Proteínas Cromosómicas no Histona
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Regulación de la Expresión Génica
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Proteínas de Ciclo Celular
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Síndrome de Cornelia de Lange
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Curr Opin Genet Dev
Asunto de la revista:
GENETICA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
Reino Unido