Survival Motor-Neuron Gene Transcript Analysis in Muscles from Spinal Muscular-Atrophy Patients

M. Gennarelli, M. Lucarelli, F. Capon, A. Pizzuti, L. Merlini, C. Angelini, G. Novelli, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

We have identified and characterized four different mRNA isoforms of the survival motor neuron (SMN) gene from skeletal muscle of 9 SMA patients and 15 unaffected controls. These isoforms appear to be generated by combinatorial splicing of both exons 5 and 7 of the SMN telomeric and centromeric gene copies. The full-size and the truncated SMN-1b isoforms of the telomeric SMN copy are significantly reduced in muscle of SMA patients, irrespective of the disease types. Our results suggest that multiple RNA splicing is operative in the two SMN-related genes and that SMN-related polypeptides may be active in the muscle.

Original languageEnglish
Pages (from-to)342-348
Number of pages7
JournalBiochemical and Biophysical Research Communications
Volume213
Issue number1
DOIs
Publication statusPublished - Aug 1995

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology
  • Biophysics
  • Biochemistry

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