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
Full text not available from this repository.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: |
05 Dec 2022 14:17 |
Publisher DOI: |
10.4161/rna.4.1.4534 |
Web of Science ID: |
000252761200006 |
URI: |
https://boris.unibe.ch/id/eprint/24691 (FactScience: 52829) |
Actions (login required)
 |
Edit item |