School of Biology, University of St Andrews, Bute Medical Buildings, St Andrews, Fife KY16 9TS, UK.
Traffic. 2009 Nov;10(11):1585-98. doi: 10.1111/j.1600-0854.2009.00972.x. Epub 2009 Aug 4.
The cell nucleus contains two closely related structures, Cajal bodies (CBs) and gems. CBs are the first site of accumulation of newly assembled splicing snRNPs (small nuclear ribonucleoproteins) following their import into the nucleus, before they form their steady-state localization in nuclear splicing speckles. Gems are the nuclear site of accumulation of survival motor neurons (SMNs), an insufficiency of which leads to the inherited neurodegenerative condition, spinal muscular atrophy (SMA). SMN is required in the cytoplasm for the addition of core, Sm, proteins to new snRNPs and is believed to accompany snRNPs to the CB. In most cell lines, gems are indistinguishable from CBs, although the structures are often separate in vivo. The relationship between CBs and gems is not fully understood, but there is evidence that symmetrical dimethylation of arginine residues in the CB protein coilin brings them together in HeLa cells. During neuronal differentiation of the human neuroblastoma cell line SH-SY5Y, CBs and gems increase their colocalization, mimicking changes seen during foetal development. This does not result from alterations in the methylation of coilin, but from increased levels of SMN. Expression of exogenous SMN results in an increased efficiency of snRNP transport to nuclear speckles. This suggests different mechanisms are present in different cell types and in vivo that may be significant for the tissue-specific pathology of SMA.
细胞核包含两种密切相关的结构,Cajal 体(CB)和 gems。CB 是新组装的剪接 snRNPs(小核核糖核蛋白)在导入细胞核后积累的第一个部位,然后它们在核剪接斑点中形成稳定的定位。Gems 是运动神经元存活(SMN)的核积累部位,如果其不足,会导致遗传性神经退行性疾病,脊髓性肌萎缩症(SMA)。SMN 在细胞质中对于将核心、Sm 蛋白添加到新的 snRNPs 是必需的,并且被认为与 snRNPs 一起运送到 CB。在大多数细胞系中,gems 与 CB 无法区分,尽管在体内结构通常是分开的。CB 和 gems 之间的关系尚未完全理解,但有证据表明,CB 蛋白 coilin 中的精氨酸残基的对称二甲基化将它们聚集在一起在 HeLa 细胞中。在人类神经母细胞瘤细胞系 SH-SY5Y 的神经元分化过程中,CB 和 gems 增加了它们的共定位,模拟了在胎儿发育过程中观察到的变化。这不是 coilin 甲基化改变的结果,而是由于 SMN 水平的增加。外源性 SMN 的表达导致 snRNP 向核斑点的转运效率增加。这表明不同的细胞类型和体内存在不同的机制,这可能对 SMA 的组织特异性病理学具有重要意义。