Identification and characterization of a novel human dysferlin transcript: dysferlin_v1
| Autor: | Chin Lai Tan, Shin’ichi Takeda, Poh San Lai, Zacharias Aloysius Dwi Pramono, Woon Chee Yee |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Untranslated region
Molecular Sequence Data Muscle Proteins Dysferlin Exon Mice Genetics medicine Animals Humans Protein Isoforms Amino Acid Sequence RNA Messenger Cloning Molecular Genetics (clinical) Genomic organization biology Base Sequence Intron Membrane Proteins Sequence Analysis DNA medicine.disease Molecular biology DNA binding site Alternative Splicing Muscular Dystrophies Limb-Girdle GenBank Mutation biology.protein 5' Untranslated Regions Limb-girdle muscular dystrophy |
| Zdroj: | Human genetics. 120(3) |
| ISSN: | 0340-6717 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink