title: The dystrophin gene is alternatively spliced throughout its coding sequence.
abstract: We have analysed splicing patterns in the human dystrophin gene region encoding the rod and cysteine-rich domains in normal skeletal muscle, brain and heart tissues. Sixteen novel alternative transcripts were identified, the majority of them being present in all three tissues. Tissue-specific variants were also identified, suggesting a functional role of transcriptional diversity. Transcript analysis in dystrophinopathic autoptic and bioptic specimens revealed that pre-mRNAs secondary structure formation and relative strength of exon/exon association play little or no role in directing alternative splicing events. This analysis also showed that independent deletion events leading to the loss of the same exons may be associated with transcriptional variability.
authors.affiliation: IRCCS E. Medea, Associazione La Nostra Famiglia, Bosisio Parini, Italy. msironi@bp.lnf.it
authors.forename: M
authors.initials: M
authors.lastname: Sironi
authors.forename: R
authors.initials: R
authors.lastname: Cagliani
authors.forename: U
authors.initials: U
authors.lastname: Pozzoli
authors.forename: A
authors.initials: A
authors.lastname: Bardoni
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
authors.forename: R
authors.initials: R
authors.lastname: Giorda
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D001921:Brain / Q000378:metabolism; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism*; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics; D009206:Myocardium / Q000378:metabolism; D009690:Nucleic Acid Conformation; D012322:RNA Precursors / Q000737:chemistry / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D016189:Dystrophin; D012322:RNA Precursors