title: Using mini-genes to identify factors that modulate alternative splicing.
abstract: Many genetic mutations result in the disruption of (alternative) splicing. Prime examples are the SMN1 and SMN2 genes: a silent mutation in SMN2 leads to the skipping of the constitutive exon 7 in the majority of SMN2 transcripts, while this exon is generally included in SMN1 transcripts. Lack of SMN is embryonic lethal and loss of SMN1 genes leads to a severe decrease in SMN protein and is associated with spinal muscular atrophy. There are proteins and drugs that can chance alternative splicing events, e.g. increase the inclusion of exon 7 in SMN2. This chapter describes mini-genes and methods that can be employed to screen for candidate proteins and drugs.
authors.affiliation: Clinical Neurobiology, Peninsula Medical School, University of Exeter, Exeter, UK.
authors.forename: Robert
authors.initials: R
authors.lastname: Morse
authors.forename: Adrian G
authors.initials: AG
authors.lastname: Todd
authors.forename: Philip J
authors.initials: PJ
authors.lastname: Young
mesh_terms: D017398:Alternative Splicing / Q000187:drug effects; D000818:Animals; D002460:Cell Line; D003001:Cloning, Molecular / Q000379:methods; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D018076:DNA, Complementary / Q000235:genetics; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000188:drug therapy / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012313:RNA / Q000235:genetics / Q000302:isolation & purification; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics*; D014162:Transfection
chemical_list: D018076:DNA, Complementary; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein; D012313:RNA; D004247:DNA