ABSTRACT

Frameshift and nonsense mutations can influence several aspects o f gene expression, including mRNA stability and splicing fidelity. The mechanisms through which premature termination codons (PTCs) can apparendy affect splice-site selection remain elusive and controversial, although many examples are attributable to mutation of exonic se­ quences involved in exon definition. Here we review the evidence for and against translational reading frame and exonic splicing regulatory sequences influencing splice-site choice.