| First Author | Jansen G | Year | 1992 |
| Journal | Nat Genet | Volume | 1 |
| Issue | 4 | Pages | 261-6 |
| PubMed ID | 1302022 | Mgi Jnum | J:12705 |
| Mgi Id | MGI:60937 | Doi | 10.1038/ng0792-261 |
| Citation | Jansen G, et al. (1992) Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nat Genet 1(4):261-6 |
| abstractText | The mutation underlying myotonic dystrophy (DM) has been identified as an expansion of a polymorphic CTG-repeat in a gene encoding protein kinase activity. Brain and heart transcripts of the DM-kinase (DMR-B15) gene are subject to alternative RNA splicing in both human and mouse. The unstable [CTG]5-30 motif is found uniquely in humans, although the flanking nucleotides are also present in mouse. Characterization of the DM region of both species reveals another active gene (DMR-N9) in close proximity to the kinase gene. DMR-N9 transcripts, mainly expressed in brain and testis, possess a single, large open reading frame, but the function of its protein product is unknown. Clinical manifestation of DM may be caused by the expanded CTG-repeat compromising the (alternative) expression of DM-kinase or DMR-N9 proteins. |
