title: Splicing, cis genetic variation and disease.
abstract: Splicing is a post-transcriptional modification of RNA during which introns are removed and exons are joined. Most of the mammalian genes undergo constitutive and alternative splicing events. In addition to the strong signals of the splice sites, splicing is influenced at a distance by a range of trans factors that interact with cis regulatory elements and influence the spliceosome. The intention of the present mini-review is to give some insights into the complexity of this interaction and to introduce the consequences of some kinds of detrimental genetic variation on alternative splicing and disease.
authors.affiliation: Department of Neurogenetics, Howard Florey Institute, Melbourne, VIC 3010, Australia. cjensen@hfi.unimelb.edu.au
authors.forename: Cathy J
authors.initials: CJ
authors.lastname: Jensen
authors.forename: Brian J
authors.initials: BJ
authors.lastname: Oldfield
authors.forename: Justin P
authors.initials: JP
authors.lastname: Rubio
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D004194:Disease / Q000235:genetics*; D005091:Exons; D014644:Genetic Variation; D006801:Humans; D007438:Introns; D009154:Mutation; D012045:Regulatory Sequences, Nucleic Acid