In this work, the authors use CRISPR/Cas9 system to introduce a common myelodysplastic syndromes mutation in the gene Serine/arginine-rich splicing factor 2 (SRSF2), which encodes an RNA-binding splicing regulator, in cultured blood cells. They show that splicing of several hundred transcripts, including some with possible relevance to disease, is altered. They further show that mutant SRSF2 is sufficient to induce these changes and does so by binding to RNA sequence elements in the misregulated mRNAs with altered specificity.
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In this work, the authors use CRISPR/Cas9 system to introduce a common myelodysplastic syndromes mutation in the gene Serine/arginine-rich splicing factor 2 (SRSF2), which encodes an RNA-binding splicing regulator, in cultured blood cells. They show that splicing of several hundred transcripts, including some with possible relevance to disease, is altered. They further show that mutant SRSF2 is sufficient to induce these changes and does so by binding to RNA sequence elements in the misregulated mRNAs with altered specificity.
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