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DOI 10.1038/s41467-024-47258-9

Медицинская библиотека · Nature communications · 2024

Translation velocity determines the efficacy of engineered suppressor tRNAs on pathogenic nonsense mutations.

Bharti Nikhil, Santos Leonardo, Davyt Marcos, Behrmann Stine, Eichholtz Marie, Jimenez-Sanchez Alejandro, Hong Jeong S, Rab Andras, Sorscher Eric J, Albers Suki, Ignatova Zoya

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Аннотация

Nonsense mutations - the underlying cause of approximately 11% of all genetic diseases - prematurely terminate protein synthesis by mutating a sense codon to a premature stop or termination codon (PTC). An emerging therapeutic strategy to suppress nonsense defects is to engineer sense-codon decoding tRNAs to readthrough and restore translation at PTCs. However, the readthrough efficiency of the engineered suppressor tRNAs (sup-tRNAs) largely varies in a tissue- and sequence context-dependent manner and has not yet yielded optimal clinical efficacy for many nonsense mutations. Here, we systematically analyze the suppression efficacy at various pathogenic nonsense mutations. We discover that the translation velocity of the sequence upstream of PTCs modulates the sup-tRNA readthrough efficacy. The PTCs most refractory to suppression are embedded in a sequence context translated with an abrupt reversal of the translation speed leading to ribosomal collisions. Moreover, modeling translation velocity using Ribo-seq data can accurately predict the suppression efficacy at PTCs. These results reveal previously unknown molecular signatures contributing to genotype-phenotype relationships and treatment-response heterogeneity, and provide the framework for the development of personalized tRNA-based gene therapies.

Для цитирования: Bharti Nikhil, Santos Leonardo, Davyt Marcos, Behrmann Stine, Eichholtz Marie, Jimenez-Sanchez Alejandro, Hong Jeong S, Rab Andras, Sorscher Eric J, Albers Suki, Ignatova Zoya. Translation velocity determines the efficacy of engineered suppressor tRNAs on pathogenic nonsense mutations.. Nature communications. 2024. DOI: 10.1038/s41467-024-47258-9.

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