
A region of 744 basepairs (bp) upstream of the muscular dystrophin promoter (UMDP) was amplified by inverse-polymerase chain reaction (PCR), cloned and sequenced. Analysis of this sequence for the presence of putative transcriptional control elements identified several similarities with known cis-acting sequence motifs including two MyoD and two Ap1 motifs. One of these Ap1 motifs was found to be completely conserved within an otherwise highly variable region among five primate species. Complete homology to a human fetal brain expressed sequence tag (EST) was also observed over 201 bp at the 5' end of the UMDP region. Northern blot analysis using a radiolabelled EST probe identified a 1 kb mRNA expressed in human placenta and at lower levels in the heart. These results raise the possibility that additional transcriptional regulatory elements are located upstream of the core muscle promoter, and provide the first evidence for the existence of a gene that overlaps the human dystrophin gene.
Binding Sites, Base Sequence, Transcription, Genetic, Molecular Sequence Data, Restriction Mapping, Brain, Exons, Regulatory Sequences, Nucleic Acid, Polymerase Chain Reaction, Dystrophin, Evolution, Molecular, Transcription Factor AP-1, Purkinje Cells, Fetus, Cerebellum, Humans, Muscle, Skeletal, Promoter Regions, Genetic, Conserved Sequence, Sequence Tagged Sites
Binding Sites, Base Sequence, Transcription, Genetic, Molecular Sequence Data, Restriction Mapping, Brain, Exons, Regulatory Sequences, Nucleic Acid, Polymerase Chain Reaction, Dystrophin, Evolution, Molecular, Transcription Factor AP-1, Purkinje Cells, Fetus, Cerebellum, Humans, Muscle, Skeletal, Promoter Regions, Genetic, Conserved Sequence, Sequence Tagged Sites
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