title: Alternative splicing: multiple control mechanisms and involvement in human disease.
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.
authors.affiliation: MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK. Javier.Caceres@hgu.mrc.ac.uk
authors.forename: Javier F
authors.initials: JF
authors.lastname: Cáceres
authors.forename: Alberto R
authors.initials: AR
authors.lastname: Kornblihtt
mesh_terms: D017398:Alternative Splicing / Q000502:physiology*; D000818:Animals; D005786:Gene Expression Regulation / Q000502:physiology*; D020022:Genetic Predisposition to Disease; D034441:Heterogeneous-Nuclear Ribonucleoproteins; D006801:Humans; D005810:Multigene Family; D022821:RNA Splice Sites / Q000235:genetics / Q000502:physiology; D012261:Ribonucleoproteins / Q000502:physiology; D015534:Trans-Activators / Q000502:physiology; D014158:Transcription, Genetic
chemical_list: D034441:Heterogeneous-Nuclear Ribonucleoproteins; D022821:RNA Splice Sites; D012261:Ribonucleoproteins; D015534:Trans-Activators