Aberrant splicing of human Cu/Zn superoxide dismutase (SOD1) RNA transcripts
Aberrant splicing of human Cu/Zn superoxide dismutase (SOD1) RNA transcripts
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DOI：
10.1097/00001756-200008210-00009
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发表时间：
2000-08-21
期刊：
影响因子：
1.7
通讯作者：
Takahashi, R
中科院分区：
文献类型：
--
作者：
Kawata, A;Kato, S;Takahashi, R
从散发性肌萎缩侧索硬化症（ALS）患者的枕叶脑组织中鉴定出两种异常SOD1 mRNA，外显子2跳跃和外显子2和3跳跃物种，SOD1基因中没有突变。这两种转录本在非神经元以及来自无神经系统疾病的受试者的神经元组织中普遍表达。表达模式没有显示出与ALS相关的疾病特异性或病变选择性。瞬时表达研究揭示了源自外显子2跳跃的SOD1 cDNA的蛋白在无细胞翻译系统中而不是在细胞中的弱表达。在ALS中，当蛋白水解系统受到衰老或某些致病因素的干扰时，推测的异常SOD 1蛋白可能积聚并对运动神经元产生毒性作用。(C)2000年利平科特威廉姆斯&威尔金斯。
Two abnormal SOD1 mRNAs, exon 2-skipping and exon 2 and 3-skipping species, were identified from occipital brain tissue of sporadic amyotrophic lateral sclerosis (ALS) patients carrying no mutations in the SOD1 gene. Both transcripts were ubiquitously expressed in non-neuronal as well as neuronal tissues from a subject without neurological diseases. The expression pattern did not show disease specificity or lesional selectivity associated with ALS, Transient expression studies revealed weak expression of the proteins derived from the exon 2-skipping SOD1 cDNA in a cell-free translation system but not in cells. The putative abnormal SOD1 protein may accumulate and exert toxic effects on motor neurons in ALS when the proteolytic system is disturbed by aging or some causal factors. (C) 2000 Lippincott Williams & Wilkins.