Cornelia de Lange syndrome (CdLS) is a dominant multisystem disorder caused by a disruption of cohesin function. The cohesin ring complex is composed of four protein subunits and more than 25 additional proteins involved in its regulation. The discovery that this complex also has a fundamental role in long-range regulation of transcription in Drosophila has shed light on the mechanism likely responsible for its role in development. In addition to the three cohesin proteins involved in CdLS, a second multisystem, recessively inherited, developmental disorder, Roberts-SC phocomelia, is caused by mutations in another regulator of the cohesin complex, ESCO2. Here we review the phenotypes of these disorders, collectively termed cohesinopathies, as well as the mechanism by which cohesin disruption likely causes these diseases.

中文翻译：

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粘连蛋白和人类疾病。


Cornelia de Lange 综合征 (CdLS) 是一种由黏连蛋白功能破坏引起的显性多系统疾病。粘连环复合物由四个蛋白质亚基和超过 25 个参与其调节的其他蛋白质组成。该复合物在果蝇转录的远程调节中也具有基本作用的发现揭示了可能负责其在发育中的作用的机制。除了与 CdLS 相关的三种粘连蛋白之外，第二种多系统隐性遗传性发育障碍 Roberts-SC phocomelia 是由粘连蛋白复合物的另一个调节因子 ESCO2 的突变引起的。在这里，我们回顾这些疾病的表型，统称为粘连蛋白病，以及粘连蛋白破坏可能导致这些疾病的机制。