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Systematic approach to developing splice modulating antisense oligonucleotides
Journal article   Open access   Peer reviewed

Systematic approach to developing splice modulating antisense oligonucleotides

M.T. Aung-Htut, C.S. McIntosh, K.A. Ham, I.L. Pitout, L.L. Flynn, K. Greer, S. Fletcher and S.D. Wilton
International Journal of Molecular Sciences, Vol.20(20), Article 5030
2019
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Abstract

The process of pre-mRNA splicing is a common and fundamental step in the expression of most human genes. Alternative splicing, whereby different splice motifs and sites are recognised in a developmental and/or tissue-specific manner, contributes to genetic plasticity and diversity of gene expression. Redirecting pre-mRNA processing of various genes has now been validated as a viable clinical therapeutic strategy, providing treatments for Duchenne muscular dystrophy (inducing specific exon skipping) and spinal muscular atrophy (promoting exon retention). We have designed and evaluated over 5000 different antisense oligonucleotides to alter splicing of a variety of pre-mRNAs, from the longest known human pre-mRNA to shorter, exon-dense primary gene transcripts. Here, we present our guidelines for designing, evaluating and optimising splice switching antisense oligomers in vitro. These systematic approaches assess several critical factors such as the selection of target splicing motifs, choice of cells, various delivery reagents and crucial aspects of validating assays for the screening of antisense oligonucleotides composed of 2′-O-methyl modified bases on a phosphorothioate backbone.

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Collaboration types
Domestic collaboration
Citation topics
1 Clinical & Life Sciences
1.255 Musculoskeletal Disorders
1.255.628 Duchenne Muscular Dystrophy
Web Of Science research areas
Biochemistry & Molecular Biology
Chemistry, Multidisciplinary
ESI research areas
Chemistry
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