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Engineered transfer RNAs for suppression of premature termination codons
Journal article   Open access   Peer reviewed

Engineered transfer RNAs for suppression of premature termination codons

John D Lueck, Daniel T Infield, Jae Seok Yoon, Paul B McCray Jr, Alfredo Perales-Puchalt, Christopher A Ahern, Adam L Mackey, Mark A Behlke, Marshall R Pope, David B Weiner, …
Nature communications, Vol.10(1), pp.822-822
02/18/2019
DOI: 10.1038/s41467-019-08329-4
PMCID: PMC6379413
PMID: 30778053
url
https://doi.org/10.1038/s41467-019-08329-4View
Published (Version of record) Open Access

Abstract

Premature termination codons (PTCs) are responsible for 10-15% of all inherited disease. PTC suppression during translation offers a promising approach to treat a variety of genetic disorders, yet small molecules that promote PTC read-through have yielded mixed performance in clinical trials. Here we present a high-throughput, cell-based assay to identify anticodon engineered transfer RNAs (ACE-tRNA) which can effectively suppress in-frame PTCs and faithfully encode their cognate amino acid. In total, we identify ACE-tRNA with a high degree of suppression activity targeting the most common human disease-causing nonsense codons. Genome-wide transcriptome ribosome profiling of cells expressing ACE-tRNA at levels which repair PTC indicate that there are limited interactions with translation termination codons. These ACE-tRNAs display high suppression potency in mammalian cells, Xenopus oocytes and mice in vivo, producing PTC repair in multiple genes, including disease causing mutations within cystic fibrosis transmembrane conductance regulator (CFTR).
Genetic Engineering - methods Gene Library Humans Xenopus laevis Mice, Inbred Strains Oocytes - cytology Animals Oocytes - physiology Ribosomes - genetics HEK293 Cells RNA, Transfer - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Female Codon, Nonsense - genetics

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