1. Exposing synonymous mutations.
- Author
-
Hunt RC, Simhadri VL, Iandoli M, Sauna ZE, and Kimchi-Sarfaty C
- Subjects
- Animals, Computational Biology methods, Humans, Nucleic Acid Conformation, Protein Aggregation, Pathological genetics, Protein Biosynthesis, Protein Conformation, Protein Stability, Protein Unfolding, RNA Splicing, RNA Stability, RNA, Messenger chemistry, RNA, Messenger genetics, RNA, Messenger metabolism, Codon, Mutation, Polymorphism, Single Nucleotide
- Abstract
Synonymous codon changes, which do not alter protein sequence, were previously thought to have no functional consequence. Although this concept has been overturned in recent years, there is no unique mechanism by which these changes exert biological effects. A large repertoire of both experimental and bioinformatic methods has been developed to understand the effects of synonymous variants. Results from this body of work have provided global insights into how biological systems exploit the degeneracy of the genetic code to control gene expression, protein folding efficiency, and the coordinated expression of functionally related gene families. Although it is now clear that synonymous variants are important in a variety of contexts, from human disease to the safety and efficacy of therapeutic proteins, there is no clear consensus on the approaches to identify and validate these changes. Here, we review the diverse methods to understand the effects of synonymous mutations., (Published by Elsevier Ltd.)
- Published
- 2014
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