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.
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Article Synopsis
- Long noncoding RNAs (lncRNAs) are key regulators of gene transcription, and this study investigates their expression in dysferlinopathy, a muscle disease linked to gene dysfunction.
- Researchers compared lncRNA and mRNA profiles between normal and dysferlin-deficient muscle cells, identifying thousands of differentially expressed lncRNAs and mRNAs.
- Findings suggest a connection between dysferlinopathy and altered lncRNA expression, with implications for various biological pathways and potential targets for future research.
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