title: Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.
abstract: We have identified and characterized four different mRNA isoforms of the survival motor neuron (SMN) gene from skeletal muscle of 9 SMA patients and 15 unaffected controls. These isoforms appear to be generated by combinatorial splicing of both exons 5 and 7 of the SMN telomeric and centromeric gene copies. The full-size and the truncated SMN-1b isoforms of the telomeric SMN copy are significantly reduced in muscle of SMA patients, irrespective of the disease types. Our results suggest that multiple RNA splicing is operative in the two SMN-related genes and that SMN-related polypeptides may be active in the muscle.
authors.affiliation: Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata, Roma, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Gennarelli
authors.forename: M
authors.initials: M
authors.lastname: Lucarelli
authors.forename: F
authors.initials: F
authors.lastname: Capon
authors.forename: A
authors.initials: A
authors.lastname: Pizzuti
authors.forename: L
authors.initials: L
authors.lastname: Merlini
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D017398:Alternative Splicing; D001324:Autoantigens / Q000096:biosynthesis* / Q000235:genetics; D001483:Base Sequence; D001706:Biopsy; D017931:DNA Primers; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000235:genetics / Q000378:metabolism*; D016133:Polymerase Chain Reaction / Q000379:methods; D012333:RNA, Messenger / Q000032:analysis / Q000096:biosynthesis*; D017411:Ribonucleoproteins, Small Nuclear / Q000096:biosynthesis; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D017931:DNA Primers; D012333:RNA, Messenger; D017411:Ribonucleoproteins, Small Nuclear; C526417:SNRPN protein, human; D055517:snRNP Core Proteins