Por favor, use este identificador para citar o enlazar este Item:http://hdl.handle.net/20.500.12105/17658
Título
A unique role of cohesin-SA1 in gene regulation and development.
Autor(es)
Remeseiro, Silvia | Cuadrado, Ana | Gómez-López, Gonzalo CNIO | Pisano, David G | Losada, Ana CNIO | Losada, Ana CNIO
Fecha de publicación
2012-05-02
Cita
EMBO J . 2012;31(9):2090-102
Idioma
Inglés
Tipo de documento
journal article
Resumen
Vertebrates have two cohesin complexes that consist of Smc1, Smc3, Rad21/Scc1 and either SA1 or SA2, but their functional specificity is unclear. Mouse embryos lacking SA1 show developmental delay and die before birth. Comparison of the genome-wide distribution of cohesin in wild-type and SA1-null cells reveals that SA1 is largely responsible for cohesin accumulation at promoters and at sites bound by the insulator protein CTCF. As a consequence, ablation of SA1 alters transcription of genes involved in biological processes related to Cornelia de Lange syndrome (CdLS), a genetic disorder linked to dysfunction of cohesin. We show that the presence of cohesin-SA1 at the promoter of myc and of protocadherin genes positively regulates their expression, a task that cannot be assumed by cohesin-SA2. Lack of SA1 also alters cohesin-binding pattern along some gene clusters and leads to dysregulation of genes within. We hypothesize that impaired cohesin-SA1 function in gene expression underlies the molecular aetiology of CdLS.
MESH
Embryonic Development | Gene Expression Regulation | Animals | Cell Cycle Proteins | Chromosomal Proteins, Non-Histone | De Lange Syndrome | Embryo, Mammalian | Fibroblasts | Mice | Mice, Knockout | Protein Subunits | Proto-Oncogene Proteins c-myc | Cohesins
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