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

页码：34 / 37

页数：4

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