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ISU researchers have developed a reporter system based on an abbreviated version of the SMN2 gene to screen potential therapeutic compounds involved in the transcription, splicing and translation of SMN2.

Pre-mRNA splicing is a complex molecular process involving RNA transcription, 5' and 3'-end RNA processing, and multiple RNA processing proteins. Humans have two nearly identical copies of the Survival Motor Neuron (SMN) gene: SMN1 and SMN2. Skipping of SMN2 exon 7 during pre-mRNA splicing results in a truncated SMN2 transcript which is quickly destroyed inside the cells. In individuals missing a functional SMN1 gene, exon 7 skipping in the SMN2 gene leads to Spinal muscular atrophy (SMA), a devastating neurodegenerative disorder. Strategies aimed at preventing SMN2 exon 7 skipping have shown promise for the therapy of SMA.
Currently, there is a need for a streamlined reporter system for the facile screening of therapeutic compounds that regulate transcription, splicing, and translation of SMN2. To address this need, ISU researchers constructed a reporter system which is essentially a small version of SMN2 (“Super SMN2 Minigene”). Specifically, the Super SMN2 Minigene system incorporates the SMN2 promoter, a FLAG tag for easy detection, all exons, flanking intronic sequences, and a 3’-untranslated terminal region. The Super SMN2 Minigene system is ideally suited for screening a broad range of compounds that are involved in regulating the transcription, splicing, 3'-end processing, transport and translation of SMN2, and it appears to be the most advanced system available.

• Easy laboratory implementation and less costly

• Ideal for identifying potential drugs for SMA therapy

• Likely to be the most advanced reporter available in the market today.

SMA Drug Discovery

Tangible Material