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00925njm 22002777a 4500 dc Remeseiro, Silvia author Cuadrado, Ana author Gómez-López, Gonzalo author Pisano, David G author Losada, Ana author 2012-05-02 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. EMBO J . 2012;31(9):2090-102 10.1038/emboj.2012.60 1460-2075 The EMBO journal 22415368 http://hdl.handle.net/20.500.12105/17658 A unique role of cohesin-SA1 in gene regulation and development.