Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein
Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein
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DOI：
10.1038/35070059
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发表时间：
2001-04-01
影响因子：
21.3
通讯作者：
Davis, RJ
中科院分区：
文献类型：
--
作者：
Gangwani, L;Mikrut, M;Davis, RJ
小鼠的运动神经元存活（smn）基因对于胚胎活力至关重要。在人类中，SMN1 基因的端粒拷贝突变会导致脊髓性肌萎缩症，这是一种常染色体隐性遗传病。在这里，我们报告 SMN 蛋白与锌指蛋白 ZPR1 相互作用，并且这些蛋白共定位于小的亚核结构中，包括宝石和卡哈尔体。 SMN 和 ZPR1 对血清作出反应，从细胞质重新分布到细胞核。在具有 SMN1 突变的 Werdnig-Hoffman 综合征（I 型脊髓性肌萎缩症）患者的细胞中，这一过程被破坏。同样，ZPR1 表达减少会阻止 SMN 定位到核体。我们的数据表明，ZPR1 是 SMN 在核体内定位所必需的。
The survival motor neurons (smn) gene in mice is essential for embryonic viability. In humans, mutation of the telomeric copy of the SMN1 gene causes spinal muscular atrophy, an autosomal recessive disease. Here we report that the SMN protein interacts with the zinc-finger protein ZPR1 and that these proteins colocalize in small subnuclear structures, including gems and Cajal bodies. SMN and ZPR1 redistribute from the cytoplasm to the nucleus in response to serum. This process is disrupted in cells from patients with Werdnig-Hoffman syndrome (spinal muscular atrophy type I) that have SMN1 mutations. Similarly, decreased ZPR1 expression prevents SMN localization to nuclear bodies. Our data show that ZPR1 is required for the localization of SMN in nuclear bodies.