Human Molecular Genetics, Vol 7, 1269-1275, Copyright © 1998 by Oxford University Press
CL Lorson and EJ Androphy
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.
ARTICLES
The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]
Department of Dermatology, New England Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA.
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