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Synthetic introns enable mutation-dependent targeting of cancer cells

UID: 10888

Description
Summary from GEO:

"Many cancers carry recurrent change-of-function mutations in RNA splicing factor genes, which induce sequence-specific changes in RNA splicing. Here, we describe a method to harness this change in RNA splicing activity to drive splicing factor mutation-dependent gene expression in cancers and selectively eliminate these tumors. We engineered synthetic introns which were efficiently spliced in leukemia and breast epithelial cells bearing the most common SF3B1 mutations, but unspliced in wild-type cells—and vice versa—to yield mutation-dependent protein production. A massively parallel screen of 8,881 distinct introns delineated ideal intronic size, mapped essential sequence elements, and revealed the basis of mutation-dependent splicing. Synthetic introns enabled mutation-dependent expression of herpes simplex virus thymidine kinase and subsequent ganciclovir-mediated elimination of leukemia and breast epithelial cells bearing SF3B1 mutations, while leaving wild-type cells unaffected. This approach significantly decreased the growth of otherwise lethal leukemia xenografts and correspondingly improved host survival. The modular, compact, and specific nature of synthetic introns thereby provide a means to exploit cancer-specific changes in RNA splicing for genotype-dependent gene expression and gene therapy."

Overall design from GEO:

"Analysis of synthetic intron splicing in SF3B1 MUT vs SF3B1 WT cells."
Subject of Study
Subject(s)
Access via GEO


Accession #: GSE163217

Access via BioProject


Accession #: PRJNA685220

Access via SRA


Accession #: SRP297952

Access Restrictions
Free to All
Access Instructions
The NCBI Gene Expression Omnibus, BioProject, and SRA databases provides open access to these files.
Associated Publications
Equipment Used
Illumina MiSeq
Dataset Format(s)
CSV
Dataset Size
594.6 KB (CSV), 425 B (CSV)
Data Catalog Record Updated
2023-10-06