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Updated: Jul 17, 2025

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
Published on: June 24, 2021
Deep screening of proximal and distal splicing-regulatory elements in a native sequence context
Yocelyn Recinos1, Dmytro Ustianenko1,2, Yow-Tyng Yeh1
1Department of Systems Biology, Department of Biochemistry and Molecular Biophysics, Center for Motor Neuron Biology and Disease, Columbia University, New York, NY 10032, USA.
Researchers developed SpliceRUSH, a CRISPR-based screening tool, to map splicing-regulatory elements (SREs) in genes. This method identified novel SREs in the SMN2 gene, advancing RNA-based drug discovery for diseases like spinal muscular atrophy.
Area of Science:
- Molecular Biology
- Genetics
- RNA Biology
Background:
- Pre-messenger RNA (pre-mRNA) splicing is crucial for gene expression and can be targeted for therapeutic intervention.
- Identifying splicing-regulatory elements (SREs) in their native sequence context is challenging, hindering the development of targeted therapies.
- Antisense oligonucleotides (ASOs) are one modality for modulating splicing, but target identification remains a bottleneck.
Conclusions:
- SpliceRUSH provides a powerful platform for systematically mapping SREs across any gene of interest.
- This technology deepens the understanding of splicing regulation and its modulation.
- The findings have significant implications for RNA-based drug discovery and the development of novel therapeutics for genetic disorders.
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