title: The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element.
abstract: Mice homozygous for the spastic mutation (spa) suffer from a complex motor disorder resulting from reduced CNS levels of the adult glycine receptor isoform GlyRA, which is composed of ligand-binding alpha 1 and structural beta polypeptides. The beta subunit-encoding gene (Glyrb) was mapped near the spa locus on mouse chromosome 3. In spa/spa mice, aberrant splicing of the beta subunit pre-mRNA strikingly diminishes the CNS contents of full-length transcripts, whereas truncated beta subunit mRNAs accumulate. This is a result of exon skipping, which causes translational frameshifts and premature stop codons. Intron 5 of the spa Glyrb gene contains an L1 transposable element that apparently is causal for the aberrant splicing of beta subunit transcripts.
authors.affiliation: Zentrum für Molekulare Biologie, Universität Heidelberg, Federal Republic of Germany.
authors.forename: C
authors.initials: C
authors.lastname: Mülhardt
authors.forename: M
authors.initials: M
authors.lastname: Fischer
authors.forename: P
authors.initials: P
authors.lastname: Gass
authors.forename: D
authors.initials: D
authors.lastname: Simon-Chazottes
authors.forename: J L
authors.initials: JL
authors.lastname: Guénet
authors.forename: J
authors.initials: J
authors.lastname: Kuhse
authors.forename: H
authors.initials: H
authors.lastname: Betz
authors.forename: C M
authors.initials: CM
authors.lastname: Becker
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004251:DNA Transposable Elements; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D007438:Introns; D051379:Mice; D008807:Mice, Inbred BALB C; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D009128:Muscle Spasticity / Q000235:genetics*; D009154:Mutation; D012322:RNA Precursors / Q000235:genetics; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics*; D018009:Receptors, Glycine / Q000235:genetics*
chemical_list: D004251:DNA Transposable Elements; D018076:DNA, Complementary; D012322:RNA Precursors; D012333:RNA, Messenger; D018009:Receptors, Glycine