| First Author | Remeseiro S | Year | 2012 |
| Journal | EMBO J | Volume | 31 |
| Issue | 9 | Pages | 2090-102 |
| PubMed ID | 22415368 | Mgi Jnum | J:184719 |
| Mgi Id | MGI:5426113 | Doi | 10.1038/emboj.2012.60 |
| Citation | Remeseiro S, et al. (2012) A unique role of cohesin-SA1 in gene regulation and development. EMBO J 31(9):2090-102 |
| abstractText | 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. |
