| http://purl.uniprot.org/citations/22415368 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22415368 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/22415368 | http://purl.org/dc/terms/identifier | "doi:10.1038/emboj.2012.60"xsd:string |
| http://purl.uniprot.org/citations/22415368 | http://purl.uniprot.org/core/author | "Cuadrado A."xsd:string |
| http://purl.uniprot.org/citations/22415368 | http://purl.uniprot.org/core/author | "Losada A."xsd:string |
| http://purl.uniprot.org/citations/22415368 | http://purl.uniprot.org/core/author | "Gomez-Lopez G."xsd:string |
| http://purl.uniprot.org/citations/22415368 | http://purl.uniprot.org/core/author | "Pisano D.G."xsd:string |
| http://purl.uniprot.org/citations/22415368 | http://purl.uniprot.org/core/author | "Remeseiro S."xsd:string |
| http://purl.uniprot.org/citations/22415368 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22415368 | http://purl.uniprot.org/core/name | "EMBO J"xsd:string |
| http://purl.uniprot.org/citations/22415368 | http://purl.uniprot.org/core/pages | "2090-2102"xsd:string |
| http://purl.uniprot.org/citations/22415368 | http://purl.uniprot.org/core/title | "A unique role of cohesin-SA1 in gene regulation and development."xsd:string |
| http://purl.uniprot.org/citations/22415368 | http://purl.uniprot.org/core/volume | "31"xsd:string |
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