Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

ABSTRACT: Synonymous or silent mutations are often overlooked in genetic analyses for disease-causing mutations unless they are directly associated with potential splicing defects. More recent studies, however, indicate that some synonymous single polynucleotide polymorphisms (sSNPs) are associated with changes in protein expression, and in some cases, protein folding and function. The impact of codon usage and mRNA structural changes on protein translation rates and how they can affect protein structure and function is just beginning to be appreciated. Examples are given here that demonstrate how synonymous mutations alter the translational kinetics and protein folding and/or function. The mechanism for how this occurs is based on a model in which codon usage modulates the translational rate by int

SUBMITTER: Bartoszewski R 

PROVIDER: S-EPMC5415761 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature