Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations

雷特综合征无义突变终止密码子读通的系统定量分析

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作者:Dennis Lebeda, Adrian Fierenz, Lina Werfel, Rina Rosin-Arbesfeld, Julia Hofhuis, Sven Thoms

Key messages

The efficiency of readthrough induction at MeCP2 premature termination codons strongly depends on the stop codon context. The position of the premature termination codon on the transcript influences the readthrough inducibility. A new high-content dual reporter assay facilitates the measurement and prediction of readthrough efficiency of specific nucleotide stop contexts. Readthrough induction results in the recovery of full-length MeCP2 and its re-localization to the nucleus. MeCP2 requires only one of its annotated nuclear localization signals.

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