title: Pre-mRNA missplicing as a cause of human disease.
abstract: Regulated alternative splice site selection emerges as one of the most important mechanisms to control the expression of genetic information in humans. It is therefore not surprising that a growing number of diseases are either associated with or caused by changes in alternative splicing. These diseases can be caused by mutation in regulatory sequences of the pre-mRNA or by changes in the concentration of trans-acting factors. The pathological expression of mRNA isoforms can be treated by transferring nucleic acids derivatives into cells that interfere with sequence elements on the pre-mRNA, which results in the desired splice site selection. Recently, a growing number of low molecular weight drugs have been discovered that influence splice site selection in vivo. These findings prove the principle that diseases caused by missplicing events could eventually be cured.
authors.affiliation: University of Erlangen, Institute for Biochemistry, Fahrstrasse 17, 91054 Erlangen, Germany.
authors.forename: Tatyana
authors.initials: T
authors.lastname: Novoyatleva
authors.forename: Yesheng
authors.initials: Y
authors.lastname: Tang
authors.forename: Ilona
authors.initials: I
authors.lastname: Rafalska
authors.forename: Stefan
authors.initials: S
authors.lastname: Stamm
mesh_terms: D001483:Base Sequence; D004194:Disease; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D012322:RNA Precursors / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics*; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics
chemical_list: D012322:RNA Precursors; D022821:RNA Splice Sites