Ribosomes translate mRNAs with non-uniform speed. Translation velocity patterns are a conserved feature of mRNA and have evolved to fine-tune protein folding, expression and function. Synonymous single-nucleotide polymorphisms (sSNPs) that alter programmed translational speed affect expression and function of the encoded protein. Synergistic advances in next-generation sequencing have led to the identification of sSNPs associated with disease penetrance. Here, we draw on studies with disease-related proteins to enhance our understanding of mechanistic contributions of sSNPs to functional alterations of the encoded protein. We emphasize the importance of identification of sSNPs along with disease-causing mutations to understand genotype–phenotype relationships.
Timing during translation matters: synonymous mutations in human pathologies influence protein folding and function
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Robert Rauscher, Zoya Ignatova; Timing during translation matters: synonymous mutations in human pathologies influence protein folding and function. Biochem Soc Trans 20 August 2018; 46 (4): 937–944. doi: https://doi.org/10.1042/BST20170422
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