Alternative splicing: multiple control mechanisms and involvement in human disease

Javier F Cáceres, Alberto R Kornblihtt

Research output: Contribution to journalArticlepeer-review

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.
Original languageEnglish
Pages (from-to)186-93
Number of pages8
JournalTrends in Genetics
Volume18
Issue number4
Publication statusPublished - 2002

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