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Alternative splicing: multiple control mechanisms and involvement in human disease
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Abstract
Alternative splicing is an important mechanism for controlling gene expression. It
allows large proteomic complexity from a limited number of genes. An interplay of
cis-acting sequences and trans-acting factors modulates the splicing of regulated
exons. Here, we discuss the roles of the SR and hnRNP families of proteins in this
process. We also focus on the role of the transcriptional machinery in the regulation
of alternative splicing, and on those alterations of alternative splicing that lead
to human disease.