Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

ABSTRACT: It is well established that exonic sequences contain regulatory elements of splicing that overlap with coding capacity. However, the conflict between ensuring splicing efficiency and preserving the coding capacity for an optimal protein during evolution has not been specifically analyzed. In fact, studies on genomic variability in fields as diverse as clinical genetics and molecular evolution mainly focus on the effect of mutations on protein function. Synonymous variations, in particular, are assumed to be functionally neutral both in clinical diagnosis and when measuring evolutionary distances between species. Using the cystic fibrosis transmembrane conductance regulator (CFTR) exon 12 splicing as a model, we have established that about one quarter of synonymous variations result in exon

SUBMITTER: Pagani F 

PROVIDER: S-EPMC1088389 | biostudies-literature | 2005 May

REPOSITORIES: biostudies-literature