Role of alternative splicing in the human dystrophin gene
| Autoři | |
|---|---|
| Rok publikování | 2003 |
| Druh | Prezentace v oblasti VaV (AV tvorba, WEB aplikace apod.) |
| Fakulta / Pracoviště MU | |
| Citace | |
| Popis | Dystrophin is the largest known human gene: it extends over 3000kb (79 exons) on the X chromosome and codes for a 14-kb mRNA. Mutations in the dystrophin gene are responsible for either Duchenne or Becker muscular dystrophy (DMD or BMD). The majority of DMD and BMD patients carry deletions in the gene (60-65% of cases) and a good correlation exists between the severity of the disease and effect of mutation on the reading frame.However, exceptions to the reading-frame rule are found in about 8% of patients, and the possibility that alternative splicing events could modify the clinical phenotype of DMD and BMD by editing the translational reading frame has been proposed. |
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