[HTML][HTML] A synonymous single nucleotide polymorphism in ΔF508 CFTR alters the secondary structure of the mRNA and the expression of the mutant protein

RA Bartoszewski, M Jablonsky, S Bartoszewska… - Journal of Biological …, 2010 - ASBMB
Recent advances in our understanding of translational dynamics indicate that codon usage
and mRNA secondary structure influence translation and protein folding. The most frequent
cause of cystic fibrosis (CF) is the deletion of three nucleotides (CTT) from the cystic fibrosis
transmembrane conductance regulator (CFTR) gene that includes the last cytosine (C) of
isoleucine 507 (Ile507ATC) and the two thymidines (T) of phenylalanine 508 (Phe508TTT)
codons. The consequences of the deletion are the loss of phenylalanine at the 508 position …