Abstract
Spinal muscular atrophy (SMA) is a motor neuron disease caused by the loss of the survival motor neuron gene, SMN1. The neighbouring SMN2 gene has nearly identical sequence. However, a single-nucleotide C to T transition in SMN2 at position 6 of exon 7 causes predominant exon7 skipping and results in an unstable truncated protein (SMNΔ7). Therefore, SMN2 can only partly compensate the defect in SMA by expressing limited amounts of functional, full-length SMN protein. It is proposed that an ESE recognized by the SR protein SF2/ASF has been disrupted by C to T transition in SMN2 and that this results in exon7 skipping.
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