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Abstract:
Alternative premessenger RNA splicing enables genes to generate more than one
gene product. Splicing events that occur within protein coding regions have the
potential to alter the biological function of the expressed protein and even to
create new protein functions. Alternative splicing has been suggested as one
explanation for the discrepancy between the number of human genes and
functional complexity. Here, we carry out a detailed study of the alternatively
spliced gene products annotated in the ENCODE pilot project. We find that
alternative splicing in human genes is more frequent than has commonly been
suggested, and we demonstrate that many of the potential alternative gene
products will have markedly different structure and function from their
constitutively spliced counterparts. For the vast majority of these alternative
isoforms, little evidence exists to suggest they have a role as functional
proteins, and it seems unlikely that the spectrum of conventional enzymatic or
structural functions can be substantially extended through alternative splicing
.
