Spinal muscular atrophy -: Position and functional importance of the branch site preceding SMN Exon 7

被引：12
|
作者：
Scholl, Raphael [1 ]
Marquis, Julien [1 ]
Meyer, Kathrin [1 ]
Schuemperli, Daniel [1 ]
机构：
[1] Univ Bern, Inst Cell Biol, CH-3012 Bern, Switzerland
来源：
RNA BIOLOGY | 2007年 / 4卷 / 01期
关键词：
spinal muscular atrophy; motor neurons; RNA splicing; branch point; U2; snRNA;
D O I：
10.4161/rna.4.1.4534
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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.
引用
收藏
页码：34 / 37
页数：4
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