Aberrant splicing of human Cu/Zn superoxide dismutase (SOD1) RNA transcripts

A. Kawata, S. Kato, T. Shimizu, H. Hayashi, S. Hirai, H. Misawa, R. Takahashi

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


Two abnormal SOD 1 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 SOD 1 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 SOD 1 cDNA in a cell-free translation system but not in cells. The putative abnormal SOD 1 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 and Wilkins.

Original languageEnglish
Pages (from-to)2649-2653
Number of pages5
Issue number12
Publication statusPublished - 2000 Aug 21
Externally publishedYes


  • Aberrant splicing
  • Amyotrophic lateral sclerosis (ALS)
  • SODI

ASJC Scopus subject areas

  • General Neuroscience


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