| First Author | Schofield JN | Year | 1994 |
| Journal | Hum Mol Genet | Volume | 3 |
| Issue | 8 | Pages | 1309-16 |
| PubMed ID | 7987307 | Mgi Jnum | J:19768 |
| Mgi Id | MGI:67901 | Doi | 10.1093/hmg/3.8.1309 |
| Citation | Schofield JN, et al. (1994) Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines. Hum Mol Genet 3(8):1309-16 |
| abstractText | Two promoters in the distal half of the Duchenne Muscular Dystrophy gene drive transcription of mRNAs which have novel first exons and encode the shortened forms of dystrophin, apo-dystrophin-1 (Dp71) and apo-dystrophin-2 (Dp116). Apo-dystrophin-1 has a G + C rich promoter and is expressed in a wide range of cell types, whilst apo-dystrophin-2 is confined to peripheral nerve and brain. We have isolated and sequenced the unique 5' exon of rat apo-dystrophin-2 mRNA. Conceptual translation of this sequence indicates that apo-dystrophin-2 contains a unique 23 amino acid terminal peptide. Using specific probes derived from sequences at the 5' ends of apo-dystrophin-1 and apo-dystrophin-2 we have determined the expression of these two mRNAs during mouse embryonic development by RNA in situ hybridization. In contrast to full-length dystrophin, neither of these short dystrophin transcripts appear before organogenesis is well established. Apo-dystrophin-1 mRNA is detected in midline cells of the ventral neural tube and later, in the ependymal cells lining the ventricles of the brain. These results suggest that apo-dystrophin-1 mRNA is associated with glial cells in the CNS. Apo-dystrophin-1 transcripts are also abundant in the teeth primordia throughout their development. In contrast apo-dystrophin-2 mRNA is largely undetectable during development, although transcripts are seen in the newborn brain. Western blots of late human fetal tissue extracts confirm that apo-dystrophin-2 is most abundant in brain and analysis of RNA and protein in cultured cell lines reveal expression of apo-dystrophin-1 and apo-dystrophin-2 in glioma cells. |
