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Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines
- Source :
- Human Molecular Genetics. 3:1309-1316
- Publication Year :
- 1994
- Publisher :
- Oxford University Press (OUP), 1994.
-
Abstract
- 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-dystrophln-1 (Dp71) and apodystrophln-2 (Dpi 16). Apo-dystrophin-1 has a G + C rich promoter and Is expressed in a wide range of cell types, whilst apo-dystrophln-2 is confined to peripheral nerve and brain. We have isolated and sequenced the unique 5' exon of rat apo-dystrophln-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-dystrophln-1 and apo-dystrophln-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 midllne 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-dystrophln-1 transcripts are also abundant in the teeth primordla 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-dystrophln-1 and apo-dystrophin- 2 in glioma cells.
- Subjects :
- musculoskeletal diseases
Duchenne muscular dystrophy
Molecular Sequence Data
Gene Expression
In situ hybridization
Biology
Muscular Dystrophies
Cell Line
Dystrophin
Embryonic and Fetal Development
Mice
Exon
Gene expression
Genetics
medicine
Animals
Humans
Molecular Biology
Gene
Cells, Cultured
Genetics (clinical)
Messenger RNA
Base Sequence
Brain
Gene Expression Regulation, Developmental
RNA
General Medicine
medicine.disease
Molecular biology
Rats
biology.protein
lipids (amino acids, peptides, and proteins)
Subjects
Details
- ISSN :
- 14602083 and 09646906
- Volume :
- 3
- Database :
- OpenAIRE
- Journal :
- Human Molecular Genetics
- Accession number :
- edsair.doi.dedup.....ff024511907a1246bffc93906c0b1464