Article
High-fidelity and differential nonsense suppression in live cells and a frontotemporal dementia allele with human transfer RNAs.
Nucleic acids research - 19 Jul 2025
Beharry Aruun, Ward Cian, Moore Henry, Hoffman Kyle S, Chan Patricia P, Lowe Todd M, O'Donoghue Patrick
Abstract excerpt
Nonsense mutations generate premature termination codons (PTCs) that are responsible for 11% of genetic disease alleles. The arginine (Arg, CGA) to stop (UGA) mutation is the most common PTC. Humans encode >600 transfer RNA (tRNA) genes with many identical and similar copies. We developed a dual fluorescent reporter to quantify PTC readthrough in live cells and found single nucleotide mutations of human tRNAArg...
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