REVIEW: Nonsense Mutations in Eukaryotes

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Nadezhda A. Potapova^a

Kharkevich Institute for Information Transmission Problems (IITP), Russian Academy of Sciences, 127051 Moscow, Russia

Received January 12, 2022; Revised February 14, 2022; Accepted March 22, 2022

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Nonsense mutations are a type of mutations which results in a premature termination codon occurrence. In general, these mutations have been considered to be among the most harmful ones which lead to premature protein translation termination and result in shortened nonfunctional polypeptide. However, there is evidence that not all nonsense mutations are harmful as well as some molecular mechanisms exist which allow to avoid pathogenic effects of these mutations. This review addresses relevant information on nonsense mutations in eukaryotic genomes, characteristics of these mutations, and different molecular mechanisms preventing or mitigating harmful effects thereof.

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KEY WORDS: nonsense mutation, stop codon, eukaryotes, negative selection, positive selection

DOI: 10.1134/S0006297922050029

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