Cohesin mutations in human cancer.
Cohesin mutations in human cancer.
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DOI：
10.1016/j.bbcan.2016.05.002
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发表时间：
2016-08
期刊：
影响因子：
--
通讯作者：
Waldman T
中科院分区：
文献类型：
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作者：
Hill VK;Kim JS;Waldman T
粘连蛋白是一种高度保守的蛋白质复合物，在姐妹染色单体粘连、染色质结构、基因表达和 DNA 修复中发挥重要作用。在人类中，粘连蛋白是一种普遍表达的多亚基蛋白复合物，由核心亚基 SMC1A、SMC3、RAD21、STAG1/2 和调节亚基 WAPL、PDS5A/B、CDCA5、NIPBL 和 MAU2 组成。最近的研究表明，编码粘连蛋白亚基的基因在多种人类癌症中发生体细胞突变。 STAG2 是最常见的突变亚基，在最近的一项分析中被确定为在四种或更多癌症类型中显着突变的仅有 12 个基因之一。在这篇综述中，我们总结了迄今为止报道的研究结果，并对粘连蛋白突变在人类癌症发病机制中的潜在功能影响进行了评论。
Cohesin is a highly-conserved protein complex that plays important roles in sister chromatid cohesion, chromatin structure, gene expression, and DNA repair. In humans, cohesin is a ubiquitously expressed, multi-subunit protein complex composed of core subunits SMC1A, SMC3, RAD21, STAG1/2 and regulatory subunits WAPL, PDS5A/B, CDCA5, NIPBL, and MAU2. Recent studies have demonstrated that genes encoding cohesin subunits are somatically mutated in a wide range of human cancers. STAG2 is the most commonly mutated subunit, and in a recent analysis was identified as one of only 12 genes that are significantly mutated in four or more cancer types. In this review we summarize the findings reported to date and comment on potential functional implications of cohesin mutation in the pathogenesis of human cancer.