title: Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.
abstract: Mutations in the dysferlin (DYSF) gene are associated with limb girdle muscular dystrophy type 2B and Miyoshi myopathy. In this study, we report the identification and characterization of a novel dysferlin transcript that we named DYSF_v1 (GenBank accession: DQ267935). This transcript differs from the currently known dysferlin transcript (GenBank accession: AF075575) in the sequence of the entire first exon which spans 232 bases. This unique first exon is derived from intron 1 of DYSF, and has an immediate upstream 5' untranslated region containing CpG islands and sequences consistent with transcription factor binding sites. Exon 1 of DYSF_v1 shares 85% sequence homology and has similar genomic organization with the first exon of mouse dysferlin. Northern blot analysis showed that the DYSF_v1 transcript spans 7.5 kb and is expressed in human skeletal muscle, heart, placenta, brain, spleen, kidney, intestine, and lung tissues. DYSF_v1 retains phylogenic conservancy and shows similar expression pattern as the currently known human dysferlin.
authors.affiliation: Neuromuscular Research Laboratory, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore, 308433, Singapore. dwi_pramono@nni.com.sg
authors.forename: Zacharias Aloysius Dwi
authors.initials: ZA
authors.lastname: Pramono
authors.forename: Poh San
authors.initials: PS
authors.lastname: Lai
authors.forename: Chin Lai
authors.initials: CL
authors.lastname: Tan
authors.forename: Shin'ichi
authors.initials: S
authors.lastname: Takeda
authors.forename: Woon Chee
authors.initials: WC
authors.lastname: Yee
mesh_terms: D020121:5' Untranslated Regions; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003001:Cloning, Molecular; D000073939:Dysferlin; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics; D009154:Mutation; D020033:Protein Isoforms / Q000032:analysis / Q000302:isolation & purification; D012333:RNA, Messenger / Q000032:analysis* / Q000302:isolation & purification; D017422:Sequence Analysis, DNA
chemical_list: D020121:5' Untranslated Regions; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D020033:Protein Isoforms; D012333:RNA, Messenger