Using Mini-genes to Identify Factors That Modulate Alternative Splicing
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Many genetic mutations result in the disruption of (alternative) splicing. Prime examples are the SMN1 and SMN2 genes: a silent mutation in SMN2 leads to the skipping of the constitutive exon 7 in the majority of SMN2 transcripts, while this exon is generally included in SMN1 transcripts. Lack of SMN is embryonic lethal and loss of SMN1 genes leads to a severe decrease in SMN protein and is associated with spinal muscular atrophy. There are proteins and drugs that can chance alternative splicing events, e.g. increase the inclusion of exon 7 in SMN2. This chapter describes mini-genes and methods that can be employed to screen for candidate proteins and drugs.
![[¹²⁵I]mini-TyrRS，Moligand™，阿拉丁](https://img1.dxycdn.com/p/s14/2024/0619/239/2939736506151833081.jpg!wh200)
