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Your search keyword '"Schümperli, Daniel"' showing total 4 results
Start Over Author "Schümperli, Daniel" Journal rna biology
4 results on '"Schümperli, Daniel"'

4. Spinal muscular atrophy: position and functional importance of the branch site preceding SMN exon 7.

Author

Scholl R, Marquis J, Meyer K, and Schümperli D

Subjects
Base Sequence, DNA Primers, HeLa Cells, Humans, Mutation, Reverse Transcriptase Polymerase Chain Reaction, SMN Complex Proteins, Survival of Motor Neuron 1 Protein, Survival of Motor Neuron 2 Protein, Cyclic AMP Response Element-Binding Protein genetics, Exons, Muscular Atrophy, Spinal genetics, Nerve Tissue Proteins genetics, RNA-Binding Proteins genetics
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.

Published
2007
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