The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding

Christian L. Lorson, Elliot J. Androphy

Research output: Contribution to journalArticle

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Spinal muscular atrophy (SMA) is a motor neuron disorder resulting from anterior horn cell death. Survival motor neuron (SMN) is the SMA-determining gene and is deleted or gene converted in > 95% of SMA patients. The SMN protein has a role in spliceosomal snRNP biogenesis and has therefore been implicated indirectly in general cellular RNA processing due to its unique sub-nuclear localization within structures termed 'gems', which co-localize with spliceosomal factors within coiled bodies. In this report, direct SMN RNA-binding activity, in addition to ssDNA and dsDNA binding is demonstrated. The region of SMN encoded by exon 2 is necessary and sufficient to mediate its nucleic acid-binding activities. This domain is homologous to several nucleic acid-binding factors, including several high mobility group (HMG) proteins. Additionally, previously reported SMN missense mutations isolated from SMA patients demonstrated reduced RNA-binding activity, suggesting that nucleic acid binding is functionally significant.

Original languageEnglish (US)
Pages (from-to)1269-1275
Number of pages7
JournalHuman molecular genetics
Issue number8
StatePublished - Aug 1 1998


ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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