| First Author | Lu Z | Year | 2003 |
| Journal | Nucleic Acids Res | Volume | 31 |
| Issue | 15 | Pages | 4616-24 |
| PubMed ID | 12888522 | Mgi Jnum | J:84952 |
| Mgi Id | MGI:2670846 | Doi | 10.1093/nar/gkg635 |
| Citation | Lu Z, et al. (2003) The quakingviable mutation affects qkI mRNA expression specifically in myelin-producing cells of the nervous system. Nucleic Acids Res 31(15):4616-24 |
| abstractText | The genetic lesion in the quakingviable (qk(v)) mutant mice is a deletion 5' to the qkI gene, resulting in severe hypomyelination. qkI produces several QKI protein isoforms via alternative splicing of the C-terminal coding exons. In the qk(v)/qk(v) brain, immunostaining of QKI proteins is diminished in an isoform-differential manner with undefined mechanisms. We examined the expression of QKI protein isoforms and qkI mRNA isoforms in the qk(v)/qk(v) mutants and the non-phenotypic wt/qk(v) littermates. Our results indicated significant reduction of all qkI mRNA isoforms in the central and peripheral nervous system during active myelination without detectable post-transcriptional abnormalities. In the early stage of myelin development, qkI mRNAs are differentially reduced, which appeared to be responsible for the reduction of the corresponding QKI protein isoforms. The reduced qkI expression was a specific consequence of the qk(v) lesion, not observed in other hypomyelination mutants. Further more, no abnormal qkI expression was found in testis, heart and astroglia of the qk(v)/qk(v) mice, suggesting that the reduction of qkI mRNAs occurred specifically in myelin-producing cells of the nervous system. These observations suggest that diminished qkI expression results from deletion of an enhancer that promotes qkI transcription specifically in myelinating glia during active myelinogenesis. |
