Abstract
In spinal muscular atrophy, the SMN1 gene is deleted or destroyed by mutation, while the neigboring, nearly identical SMN2 gene acts as a partial functional substitute. However, due to a single nucleotide exchange, the seventh exon of SMN2 is mostly excluded from the mature mRNA, and the resulting shorter protein is non-functional. Here, we map the previously uncharacterized intron 6 branch point by RT-PCR. Moreover we show that exon 7 inclusion can be either abolished or improved by mutations in this branch site region.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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Cyclic AMP Response Element-Binding Protein / genetics*
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DNA Primers
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Exons*
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HeLa Cells
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Humans
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Muscular Atrophy, Spinal / genetics*
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Mutation
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Nerve Tissue Proteins / genetics*
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RNA-Binding Proteins / genetics*
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Reverse Transcriptase Polymerase Chain Reaction
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SMN Complex Proteins
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Survival of Motor Neuron 1 Protein
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Survival of Motor Neuron 2 Protein
Substances
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Cyclic AMP Response Element-Binding Protein
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DNA Primers
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Nerve Tissue Proteins
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RNA-Binding Proteins
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SMN Complex Proteins
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SMN1 protein, human
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SMN2 protein, human
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Survival of Motor Neuron 1 Protein
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Survival of Motor Neuron 2 Protein