ArticleGenome research2003
Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature.
Article in Genome research, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 28 citations in OpenAlex.
- Defective splicing of Y-chromosome-linked gigantic genes contributes to hybrid male sterility in Drosophila.Molecular biology and evolution · 2026Article
- A germline PAF1 paralog complex ensures cell type-specific gene expression.Genes & development · 2024Article
- Co-transcriptional splicing facilitates transcription of gigantic genes.PLoS genetics · 2024Article
- Molecular correction of Duchenne muscular dystrophy by splice modulation and gene editing.RNA biology · 2021Review
- The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.Frontiers in genetics · 2020Article
- Satellite DNA-containing gigantic introns in a unique gene expression program during Drosophila spermatogenesis.PLoS genetics · 2019Article
- Design and evaluation of locked nucleic acid-based splice-switching oligonucleotides in vitro.Nucleic acids research · 2014Article
- Epigenetic processes in a tetraploid mammal.Mammalian genome : official journal of the International Mammalian Genome Society · 2008Article
- A subset of nuclear receptor coregulators act as coupling proteins during synthesis and maturation of RNA transcripts.Molecular and cellular biology · 2005Review
- Kalirin expression is regulated by multiple promoters.Journal of molecular neuroscience : MN · 2004Article
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Authors and funding
8 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human DMD gene is the largest known to date, spanning > 2000 kb on the X chromosome. The gene size is mainly accounted for by huge intronic regions. We sequenced 190 kb of Fugu rubripes (pufferfish) genomic DNA corresponding to the complete dystrophin gene (FrDMD) and provide the first report of gene structure and sequence comparison among dystrophin genomic sequences from different vertebrate organisms. Almost all intron positions and phases are conserved between FrDMD and its mammalian counterparts, and the predicted protein product of the Fugu gene displays 55% identity and 71% similarity to human dystrophin. In analogy to the human gene, FrDMD presents several-fold longer than average intronic regions. Analysis of intron sequences of the human and murine genes revealed that they are extremely conserved in size and that a similar fraction of total intron length is represented by repetitive elements; moreover, our data indicate that intron expansion through repeat accumulation in the two orthologs is the result of independent insertional events. The hypothesis that intron length might be functionally relevant to the DMD gene regulation is proposed and substantiated by the finding that dystrophin intron gigantism is common to the three vertebrate genes.
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