title: Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms.
abstract: In conducting dysferlin mutational screening using blood mRNA instead of genomic DNA, we identified the occurrence of alternative splicing involving novel dysferlin exons, i.e. exons 5a and 40a, in addition to previously reported alternative splicing of exon 17. Further study employing long range RT-PCR and subcloning revealed a total of fourteen dysferlin transcripts with maintained dysferlin reading frame. The study also characterised the differences in relative frequencies of the dysferlin transcripts in skeletal muscle and blood. The findings have potential implications for molecular diagnosis of dysferlinopathy and the identification of dysferlin isoforms.
authors.affiliation: Department of Clinical Research, SingHealth Research Facility, Block C, #03-3, Singapore General Hospital, 9 Hospital Drive, Singapore, 169612, Singapore. dpsarengat@nsc.gov.sg
authors.forename: Zacharias Aloysius Dwi
authors.initials: ZA
authors.lastname: Pramono
authors.forename: Chin Lai
authors.initials: CL
authors.lastname: Tan
authors.forename: Irene Ai Lian
authors.initials: IA
authors.lastname: Seah
authors.forename: Joseph Shean Long
authors.initials: JS
authors.lastname: See
authors.forename: Siok Yuen
authors.initials: SY
authors.lastname: Kam
authors.forename: Poh San
authors.initials: PS
authors.lastname: Lai
authors.forename: Woon Chee
authors.initials: WC
authors.lastname: Yee
mesh_terms: D017398:Alternative Splicing; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D049310:Distal Myopathies / Q000235:genetics; D000073939:Dysferlin; D005091:Exons; D014644:Genetic Variation; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics; D020033:Protein Isoforms / Q000235:genetics; D012333:RNA, Messenger / Q000097:blood / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D020033:Protein Isoforms; D012333:RNA, Messenger