ArticleHuman genetics2003
Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot.
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed.
- Combining PCR to detect junction fragments and deleted exons in the prenatal diagnosis of BMD can effectively identify maternal cell contamination.Frontiers in medicine · 2025Article
- Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.Journal of human genetics · 2017Article
- Genome Editing Gene Therapy for Duchenne Muscular Dystrophy.Journal of neuromuscular diseases · 2015Article
- Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.American journal of human genetics · 2010Article
- Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.Journal of medical genetics · 2006Article
- Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.American journal of human genetics · 2005Article
- Molecular structure of double-minute chromosomes bearing amplified copies of the epidermal growth factor receptor gene in gliomas.Proceedings of the National Academy of Sciences of the United States of America · 2004Article
- An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.Human genetics · 2004Article
- Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature.Genome research · 2003Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Large intragenic deletions within the DMD locus account for about 60% of Duchenne and Becker muscular dystrophy patients. Two deletion hot-spots have been described in the dystrophin gene, but the mechanisms that determine chromosome breaks in these regions are unknown, and the huge dimensions of the gene have hampered the description of a consistent number of breakpoint sequences. A long-distance polymerase chain reaction strategy was used to amplify 20 deletion junctions involving the major hot-spot and to describe breakpoint position at the sequence level. These junctions were analyzed together with previously reported breakpoint locations so as to increase the sample number and possibly provide a comprehensive study. Minisatellite core sequences, chi elements, translin-binding sites, Pur elements, and matrix attachment regions were sought over the whole gene. Sequence-dependent DNA curvature and duplex stability were also calculated throughout the gene, and their cumulative frequency distribution was evaluated. No association with either sequence or structure elements involved in known illegitimate recombination mechanisms was identified. This study highlights the importance of a whole gene approach to rule out the presumptive role of specific features that, when locally analyzed, might suggest involvement in gene rearrangements.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.