Increased expression level of the splicing variant of SIP1 in motor neuron diseases
Increased expression level of the splicing variant of SIP1 in motor neuron diseases
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DOI：
10.1016/s1357-2725(01)00150-9
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发表时间：
2002-06-01
影响因子：
4
通讯作者：
Tsukahara, T
中科院分区：
文献类型：
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作者：
Aerbajinai, W;Ishihara, T;Tsukahara, T
运动神经元生存相互作用蛋白1（SIP 1）与SMN蛋白相互作用，在剪接体的生物发生中起着至关重要的作用。我们已经确定了三个新的剪接变体的SIP 1（SIP 1-β，-γ和-δ），除了全长SIP 1-α。SIP 1-α在各种正常组织中普遍高水平表达。相比之下，SIP 1-β和-γ在这些组织中的表达水平非常低。在脊髓性肌萎缩症（SMA）和肌萎缩侧索硬化症（ALS）患者的肌肉标本中，SIP 1-α的表达与正常组织中观察到的相比显著降低。此外，SIP 1-β的表达在来自患有任一疾病的患者的组织中显著增加。这些结果表明，SIP 1的异常选择性剪接事件发生在运动神经元疾病患者的组织中，并有助于SMA和ALS的病理过程。(C)2002爱思唯尔科技有限公司版权所有。
Survival motor neuron (SMN) interacting protein 1 (SIP1) interacts with SMN protein and plays a crucial role in the biogenesis of spliceosomes. We have identified three novel splicing variants of the SIP1 (SIP1-beta, -gamma and -delta), in addition to the full-length SIP1-alpha. SIP1-alpha as found to be ubiquitously expressed at high levels in the various normal tissues examined. In contrast, SIP1-beta and -gamma were expressed at very low levels in these tissues. In muscle specimens from patients with spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), the expression of SIP1-alpha was dramatically decreased compared to that observed in the normal tissues. In addition, the expression of SIP1-beta was significantly increased in tissues derived from patients with either disease. These findings suggest that an aberrant alternative splicing event in SIP1 occurs tissues derived from patients with the motor neuron diseases, and contributes to the pathological process of SMA and ALS. (C) 2002 Elsevier Science Ltd. All rights reserved.