The 3′-untranslated region of the dystrophin gene – conservation and consequences of loss

Greener, Marc; Sewry, Caroline A.; Muntoni, Francesco; Roberts, Roland G.

doi:10.1038/sj.ejhg.5200822

Cited by 21 publications

(20 citation statements)

References 31 publications

(33 reference statements)

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“…As previously reported (Greener et al 2002), a region displaying high sequence conservation was detected in the 3Ј untranslated region of the three genes.…”

Section: Comparative Sequence Analysissupporting

confidence: 60%

Comparative Analysis of Vertebrate Dystrophin Loci Indicate Intron Gigantism as a Common Feature

Pozzoli

Elgar²,

Cagliani

et al. 2003

Genome Res.

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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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“…As previously reported (Greener et al 2002), a region displaying high sequence conservation was detected in the 3Ј untranslated region of the three genes.…”

Section: Comparative Sequence Analysissupporting

confidence: 60%

Comparative Analysis of Vertebrate Dystrophin Loci Indicate Intron Gigantism as a Common Feature

Pozzoli

Elgar²,

Cagliani

et al. 2003

Genome Res.

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“…Because the contiguous deletion extends to include all or part of exon 75, this patient must be contrasted with other reported patients who have DMD or BMD caused by variations in this region of the gene (17,(27)(28)(29)(30)(31)(32)(33)(34). The finding calls into question the hypothesis that the 3Ј exons of the DMD gene and the 3Ј untranslated region of the gene are essential for protein function (27,30 ).…”

Section: Discussioncontrasting

confidence: 41%

“…Few central region deletions extending 3Ј beyond exon 60 have been found in DMD or BMD patients. However, causative point variations, internal deletions, and contiguous gene deletions involving the most 3Ј dystropin exons or the 3Ј untranslated region of the gene have been reported in DMD and BMD patients (17,(27)(28)(29)(30)(31)(32)(33)(34).…”

Section: Discussionmentioning

confidence: 99%

A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency

et al. 2006

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Background: Glycerol kinase deficiency (GKD) is an X-linked recessive disorder that presents in both isolated and complex forms. The contiguous deletion that leads to GKD also commonly affects NR0B1 (DAX1), the gene associated with adrenal hypoplasia congenita, and DMD, the Duchenne muscular dystrophy gene. Molecular testing to delineate this deletion is expensive and has only limited availability. Methods: We designed a multiplex PCR assay for the detection and mapping of a contiguous deletion potentially affecting the IL1RAPL1, NR0B1, GK, and DMD genes in a 29-month-old male patient with GKD. Results: Multiplex PCR detected a contiguous deletion that involved the IL1RAPL1, NR0B1, GK, and DMD genes. Although the patient had a creatine kinase concentration within the reference interval, further mapping with PCR revealed that exon 74 was the last intact exon at the 3 end of the DMD gene. Conclusions: Multiplex PCR is an effective and inexpensive way to detect and map the contiguous deletion in cases of complex GKD. The extension of a deletion to include DMD exon 75 in a patient with a creatine kinase concentration within the reference interval suggests that this region of the gene may not be essential for protein function.

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“…He was also severely affected with a fast disease progression. A similar mutation has been described earlier in a BMD patient as a part of a contiguous gene deletion syndrome [9].…”

Section: Resultsmentioning

confidence: 88%

Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing

Тодорова

Guergueltcheva

Genova

et al. 2009

Balkan Journal of Medical Genetics

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Duchenne/Becker muscular dystrophy (DMD/ BMD), the most common X-linked muscular dystrophy is caused by mutations in the enormously large DMD gene. We screened this gene in 51 unrelated Bulgarian DMD/BMD patients and four families with no living index patient available, by multiplex ligation-dependent probe amplification (MLPA) analysis, which is a powerful tool for detecting deletion/duplication along the DMD gene. This, in combination with direct sequencing, characterized the mutation in all patients, which comprised 42 deletions (82%), six duplications (12%) and three point mutations (6%), and precisely determined all deletion/duplication borders. In all the families with no living index patient available, deletions were detected by direct analysis on the patients' mothers and sisters, proving the value of MLPA for carrier status determination.

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The 3′-untranslated region of the dystrophin gene – conservation and consequences of loss

Cited by 21 publications

References 31 publications

Comparative Analysis of Vertebrate Dystrophin Loci Indicate Intron Gigantism as a Common Feature

Comparative Analysis of Vertebrate Dystrophin Loci Indicate Intron Gigantism as a Common Feature

A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency

Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing

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