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Article

Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes

14 Dec 2006

Abstract excerpt

Humans have two nearly identical copies of the survival motor neuron (SMN ) gene, SMN1 and SMN2. Homozygous loss of SMN1 causes spinal muscular atrophy (SMA). SMN2 is unable to prevent the disease due to skipping of exon 7. Using a systematic approach of in vivo selection, we have previously demonstrated that a weak 5' splice site (ss) serves as the major cause of skipping of SMN2 exon 7. Here we show the...

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PMID: 17170000
DOI: 10.1093/nar/gkl1050

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Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genesPMID 17170000Read ↗

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In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genesSemantic proximity Read ↗

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