Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin …

JC McNaughton, DJ Cockburn, G Hughes, WA Jones… - Gene, 1998 - Elsevier
Although large deletions comprise 65% of the mutations that underlie most cases of
Duchenne and Becker muscular dystrophies, the DNA sequence characteristics of the …

Analysis of 22 deletion breakpoints in dystrophin intron 49

C Nobile, L Toffolatti, F Rizzi, B Simionati, V Nigro… - Human genetics, 2002 - Springer
Over 60% of Duchenne and Becker muscular dystrophies are caused by deletions spanning
tens or hundreds of kilobases in the dystrophin gene. The molecular mechanisms …

Genomic organization of the human dystrophin gene across the major deletion hot spot and the 3′ region

C Nobile, F Galvagni, J Marchi, R Roberts, L Vitiello - Genomics, 1995 - Elsevier
The genomic organization of most of the human dystrophin gene has not been defined at
single-exon level, owing to its enormous size (2300 kb). By taking advantage of a YAC …

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene

L Toffolatti, B Cardazzo, C Nobile, GA Danieli… - Genomics, 2002 - Elsevier
The region of the dystrophin gene containing introns 45–50 is characterized by a high rate of
recombination events that give rise to large deletions causing dystrophinopathy. The …

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec

LR Simard, F Gingras, N Delvoye, M Vanasse… - Human genetics, 1992 - Springer
We have analyzed patient DNA samples in 77 unrelated Duchenne (DMD) and Becker
(BMD) muscular dystrophy families, 73 of which were of French Canadian origin. We show …

A refined restriction map of YAC clones spanning the entire human dystrophin gene

C Nobile, J Marchi - Mammalian Genome, 1994 - Springer
The enormous size of the human dystrophin gene (2300 kb) has so far hindered the analysis
of its organization and the characterization at the genomic level of the deletion and …

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot

M Sironi, U Pozzoli, R Cagliani, R Giorda, GP Comi… - Human genetics, 2003 - Springer
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 …

Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability

R Suminaga, Y Takeshima, K Yasuda, N Shiga… - Journal of human …, 2000 - nature.com
Although large deletions in the dystrophin gene have been identified in more than two-thirds
of Duchenne and Becker muscular dystrophy patients, the molecular mechanisms that lead …

Spectrum of small mutations in the dystrophin coding region.

TW Prior, C Bartolo, DK Pearl, AC Papp… - American journal of …, 1995 - ncbi.nlm.nih.gov
Duchenne and Becker muscular dystrophies (DMD and BMD) are caused by defects in the
dystrophin gene. About two-thirds of the affected patients have large deletions or …

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

G Esposito, MR Tremolaterra, E Marsocci… - Journal of human …, 2017 - nature.com
Exon deletions in the human DMD gene, which encodes the dystrophin protein, are the
molecular defect in 50–70% of cases of Duchenne/Becker muscular dystrophies. Deletions …