We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.
- Authors
Pramono, Zacharias Aloysius Dwi; Lai, Poh San; Tan, Chin Lai; Takeda, Shin’ichi; Yee, Woon Chee
- 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.
- Subjects
MUSCULAR dystrophy; GENETIC mutation; HUMAN genetics; SARCOLEMMA; NEUROLOGICAL disorders
- Publication
Human Genetics, 2006, Vol 120, Issue 3, p410
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s00439-006-0230-1