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Research Paper
Spinal Muscular Atrophy: Position and Functional Importance of the Branch Site Preceding SMN Exon 7
Raphael Scholl, Julien Marquis, Kathrin Meyer and Daniel Schumperli
volume 4 | issue 1
january/february/march 2007Pages: 34 - 37
This is an open-access article
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In spinal muscular atrophy, the SMN1 gene is deleted or destroyed by mutation, while the neigbouring, 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 uncharacterised 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
Raphael Scholl
University of Bern; Bern, Switzerland
Julien Marquis
University of Bern; Bern, Switzerland
Kathrin Meyer
University of Bern; Bern, Switzerland
Daniel Schumperli
University of Bern; Bern, Switzerland
This is an open-access article
Download PDFIf the document does not open, please right-click on the link (control-click on a Macintosh) and select the option to save the file to disk.