Multiple transcripts of the human Cu,Zn superoxide dismutase gene

M. Hirano, W. Y. Hung, N. Cole, A. C. Azim, H. X. Deng, T. Siddique*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

We have identified five alternatively spliced transcripts of the gene for human Cu,Zn superoxide dismutase (SOD1), a causative gene for autosomal dominant amyotrophic lateral sclerosis (ALS). The splice variants of wild-type or mutant SOD1 were expressed in a tissue-specific manner; therefore, their expression may be regulated to modify SOD1 function. In addition, the expression in the brain implies that variants may play a role in the nervous system, the region involved in ALS. Immunoblot study of HeLa cells transfected with two variants encoding C-terminal truncated proteins did not show the proteins of expected size. However, this observation is consistent with the previous study of C-terminal truncated mutant proteins that cause ALS, suggesting that both variant and mutant proteins may share certain properties, such as instability or insolubility in the cytosol. These findings suggest that the splice variants may contribute to a physiological function of SOD1 or to a pathological mechanism in ALS. (C) 2000 Academic Press.

Original languageEnglish (US)
Pages (from-to)52-56
Number of pages5
JournalBiochemical and Biophysical Research Communications
Volume276
Issue number1
DOIs
StatePublished - Sep 16 2000

Keywords

  • Alternative splicing
  • Amyotrophic lateral sclerosis
  • Cu,Zn superoxide dismutase
  • Variant

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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