title: Spinal muscular atrophy: position and functional importance of the branch site preceding SMN exon 7.
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.
authors.affiliation: University of Bern, Institute of Cell Biology, Bern, Switzerland.
authors.forename: Raphael
authors.initials: R
authors.lastname: Scholl
authors.forename: Julien
authors.initials: J
authors.lastname: Marquis
authors.forename: Kathrin
authors.initials: K
authors.lastname: Meyer
authors.forename: Daniel
authors.initials: D
authors.lastname: Schümperli
mesh_terms: D001483:Base Sequence; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D006367:HeLa Cells; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D055532:SMN Complex Proteins; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D017931:DNA Primers; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein