Functional analysis of cohesin during CNS development

Cohesin复合物由Smc 3、Smc 1、Scc 3和Scc 1四个亚基组成，在姐妹染色单体的凝聚中起作用，这对染色体的精确分离至关重要。粘着蛋白还已知通过在特定位点形成染色质环参与染色质组织，并调节有丝分裂后细胞中的基因表达。粘连蛋白网络的破坏导致粘连蛋白病，如科尔内利亚德兰格综合征。这些疾病导致更高的脑功能障碍，表明在基因调控，而不是染色体分离的凝聚素的作用。在这项研究中，我们测试了这一假设，即黏结蛋白调节基因组组织和它的缺陷导致更高的脑功能障碍。

Cohesin complex is composed of four subunits, Smc3, Smc1, Scc3, and Scc1, and has a role in sister chromatid cohesion, which is crucial for accurate chromosome segregation. Cohesin is also known to be involved in chromatin organization by forming chromatin loops at particular loci and regulate gene expression in postmitotic cells. Disruption of cohesin network results in cohesinopathies such as Cornelia de Lange syndrome. These diseases cause higher brain dysfunction, suggesting the role of cohesin in gene regulation rather than chromosome segregation. In this study, we tested the hypothesis that cohesin regulates genome organization and its deficiency leads to higher brain dysfunction.