ArticleThe Journal of clinical investigation1994
Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.
Article in The Journal of clinical investigation, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 91 citations in OpenAlex.
- Late-Stage Skeletal Muscle Transcriptome in Duchenne Muscular Dystrophy Shows a BMP4-Induced Molecular Signature.Journal of cachexia, sarcopenia and muscle · 2025Article
- Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects.Yonsei medical journal · 2017Article
- Mutation types and aging differently affect revertant fiber expansion in dystrophic mdx and mdx52 mice.PloS one · 2013Article
- Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers.BMC genetics · 2012Article
- Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity.Molecular vision · 2010Article
- Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.Human mutation · 2007Article
- Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons.Journal of human genetics · 2007Article
- Characterization of RNase R-digested cellular RNA source that consists of lariat and circular RNAs from pre-mRNA splicing.Nucleic acids research · 2006Article
- A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene.Journal of human genetics · 2005Article
- Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot.Human genetics · 2003Article
- Immune responses to dystropin: implications for gene therapy of Duchenne muscular dystrophy.Gene therapy · 2000Article
- Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.The Journal of clinical investigation · 1997Article
- A muscle-specific enhancer within intron 1 of the human dystrophin gene is functionally dependent on single MEF-1/E box and MEF-2/AT-rich sequence motifs.Nucleic acids research · 1997Article
- Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain.Human genetics · 1996Article
- A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart.The Journal of clinical investigation · 1995Article
- G-utrophin, the autosomal homologue of dystrophin Dp116, is expressed in sensory ganglia and brain.Proceedings of the National Academy of Sciences of the United States of America · 1995Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The dystrophin gene, which is mutated in patients with Duchenne and Becker muscular dystrophies, is the largest known human gene. Five alternative promoters have been characterized until now. Here we show that a novel dystrophin isoform with a different first exon can be produced through transcription initiation at a previously unidentified alternative promoter. The case study presented is that of a patient with Duchenne muscular dystrophy who had a deletion extending from the 5' end of the dystrophin gene to exon 2, including all promoters previously mapped in the 5' part of the gene. Transcripts from lymphoblastoid cells were found to contain sequences corresponding to exon 3, indicating the presence of new promoter upstream of this exon. The nucleotide sequence of amplified cDNA corresponding to the 5' end of the new transcript indicated that the 5' end of exon 3 was extended by 9 codons, only the last (most 3') of which codes for methionine. The genomic nucleotide sequence upstream from the new exon, as determined using inverse polymerase chain reaction, revealed the presence of sequences similar to a TATA box, an octamer motif and an MEF-2 element. The identified promoter/exon did not map to intron 2, as might have been expected, but to a position more than 500 kb upstream of the most 5' of the previously identified promoters, thereby adding 500 kb to the dystrophin gene. The sequence of part of the new promoter region is very similar to that of certain medium reiteration frequency repetitive sequences. These findings may help us understand the molecular evolution of the dystrophin gene.
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