Spinal Muscular Atrophy: position and functional importance of the branch site preceding SMN exon 7

Scholl, Raphael; Marquis, Julien; Meyer, Kathrin; Schümperli, Daniel (2007). Spinal Muscular Atrophy: position and functional importance of the branch site preceding SMN exon 7. RNA biology, 4(1), pp. 34-37. Georgetown, Tex.: Landes Bioscience 10.4161/rna.4.1.4534

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

08 Faculty of Science > Department of Biology > Institute of Cell Biology

UniBE Contributor:

Schümperli, Daniel

ISSN:

1547-6286

Publisher:

Landes Bioscience

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:57

Last Modified:

06 Dec 2013 13:49

Publisher DOI:

10.4161/rna.4.1.4534

Web of Science ID:

000252761200006

URI:

https://boris.unibe.ch/id/eprint/24691 (FactScience: 52829)

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