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Functional synonymous mutations and their evolutionary consequences
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DOI：10.1038/s41576-025-00850-1.png)
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Abstract
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Synonymous mutations are coding mutations that do not alter protein sequences. Commonly thought to have little to no functional consequence, synonymous mutations have been widely used in evolutionary analyses that require neutral markers, including those foundational for the neutral theory. However, recent studies suggest that synonymous mutations can influence nearly every step in the expression of genetic information and may often be strongly non-neutral. We review the extent and mechanisms of these phenotypic and fitness effects and discuss the implications of the functionality and non-neutrality of synonymous mutations for various analyses and conclusions pertinent to genetics, evolution, conservation and disease. Synonymous mutations, once deemed neutral, have been shown to influence gene expression and organismal fitness by affecting transcription, mRNA processing, translation and protein folding. In this Perspective, the authors highlight evidence for fitness effects of synonymous mutations and discuss resulting implications for evolutionary and disease genetics.
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