Strachan Tom
Institute of Human Genetics and Centre for Stem Biology and Developmental Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Curr Opin Genet Dev. 2005 Jun;15(3):258-64. doi: 10.1016/j.gde.2005.04.005.
Cornelia de Lange Syndrome (CdLS) is a rare multiple malformation disorder with characteristic facial features, growth and cognitive retardation, and many other abnormalities. CdLS individuals were recently shown to have heterozygous mutations in a previously uncharacterised gene, NIPBL, which encodes delangin, a homologue of fungal Scc2-type sister chromatid cohesion proteins and the Drosophila Nipped-B developmental regulator. Nipped-B and vertebrate delangins are also now known to regulate sister chromatid cohesion, probably as part of oligomeric complexes required to load cohesin subunits onto chromatin. CdLS is likely to be one of several developmental disorders resulting from defective expression of a multi-functional protein with roles in chromosome function, gene regulation and double-strand DNA repair - a combination of properties shared by certain bacterial proteins responsible for structural maintenance of chromatin.
科妮莉亚·德·朗热综合征（CdLS）是一种罕见的多发畸形疾病，具有特征性面部特征、生长和认知发育迟缓以及许多其他异常表现。最近发现，CdLS患者在一个以前未被鉴定的基因NIPBL中存在杂合突变，该基因编码delangin，它是真菌Scc2型姐妹染色单体黏连蛋白和果蝇Nipped - B发育调节因子的同源物。现在还已知，Nipped - B和脊椎动物的delangins也调节姐妹染色单体黏连，可能是作为将黏连蛋白亚基加载到染色质上所需的寡聚复合物的一部分。CdLS可能是由一种在染色体功能、基因调控和双链DNA修复中起作用的多功能蛋白质表达缺陷导致的几种发育障碍之一，这种蛋白质具有某些负责染色质结构维持的细菌蛋白质所共有的特性组合。
