Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene

Journal of Human Genetics

Volumn 54, Issue 2, 2009, Pages 127-130

  Miyazaki, Daigo ^a   Yoshida, Kunihiro ^a   Fukushima, Kazuhiro ^a   Nakamura, Akinori ^a,b   Suzuki, Kayo ^c   Sato, Toshiyuki ^d   Takeda, Shin'ichi ^b   Ikeda, Shu Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c SHINSHU UNIVERSITY   (Japan)

^d MIZUHO INFORMATION AND RESEARCH INSTITUTE   (Japan)

Author keywords

Breakpoint; Deletion; Duchenne muscular dystrophy (DMD); Dystrophin; Genomic sequence; X linked dilated cardiomyopathy (XLDCM)

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE DELETION; GENE SEQUENCE; HUMAN; MALE; SEQUENCE ANALYSIS; X CHROMOSOME LINKED DISORDER; CHROMOSOME BREAKAGE; DNA SEQUENCE; GENETICS; INTRON; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE;

DMD PROTEIN, HUMAN; DYSTROPHIN;

ADULT; BASE SEQUENCE; CHROMOSOME BREAKPOINTS; DYSTROPHIN; EXONS; HUMANS; INTRONS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, DUCHENNE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 60749109887     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2008.8     Document Type: Article

References (23)

1. Muntoni, F., Torelli, S. & Ferlini, A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2, 731-740 (2003).
2. Forrest, S. M., Cross, G. S., Speer, A., Gardner-Medwin, D., Burn, J. & Davies, K. E. Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature 329, 638-640 (1987).
3. Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C. & Kunkel, L. M. Cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50, 509-517 (1987).
4. Koenig, M., Beggs, A. H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T. et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am. J. Hum. Genet. 45, 498-506 (1989).
5. den Dunnen, J. T., Grootscholten, P. M., Bakker, E., Blonden, L. A., Ginjaar, H. B., Wapenaar, M. C. et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am. J. Hum. Genet. 45, 835-847 (1989).
6. Blonden, L. A., Grootscholten, P. M., den Dunnen, J. T., Bakker, E., Abbs, S., Bobrow, M. et al. 242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread. Genomics 10, 631-639 (1991).
7. Oudet, C., Hanauer, A., Clemens, P., Caskey, T. & Mandel, J. L. Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum. Mol. Genet. 1, 599-603 (1992).
8. Béroud, C., Tuffery-Giraud, S., Matsuo, M., Hamroun, D., Humbertclaude, V., Monnier, N. et al. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. Hum. Mutat. 28, 196-202 (2007).
9. Nakamura, A., Yoshida, K., Fukushima, K., Ueda, H., Urasawa, N., Koyama, J. et al. Follow-up of three patients with a large deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene. J. Clin. Neurosci. 15, 757-763 (2008).
10. Tasaki, N., Yoshida, K., Haruta, S., Kouno, H., Ichinose, H., Fujimoto, Y. et al. X-linked dilated cardiomyopathy with a large hot-spot deletion in the dystrophin gene. Intern. Med. 40, 1215-1221 (2001).
11. Yazaki, M., Yoshida, K., Nakamura, A., Koyama, J., Nanba, T., Ohori, N. et al. Clinical characteristics of aged Becker muscular dystrophy patients with onset after 30 years. Eur. Neurol. 42, 145-149 (1999).
12. Love, D. R., England, S. B., Speer, A., Marsden, R. F., Bloomfield, J. F., Roche, A. L. et al. Sequences of junction fragments in the deletion-prone region of the dystrophin gene. Genomics 10, 57-67 (1991).
13. Sironi, M., Pozzoli, U., Cagliani, R., Giorda, R., Comi, G. P., Bardoni, A. et al. Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot. Hum. Genet. 112, 272-288 (2003).
14. Toffolatti, L., Cardazzo, B., Nobile, C., Danieli, G. A., Gualandi, F., Muntoni, F. et al. Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics 80, 523-530 (2002).
15. Byers, T. J., Lidov, H. G. W. & Kunkel, L. M. An alternative dystrophin transcript specific to peripheral nerve. Nat. Genet. 4, 77-81 (1993).
16. Lidov, H. G. W., Selig, S. & Kunkel, L. M. Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum. Mol. Genet. 4, 329-335 (1995).
17. McNaughton, J. C., Cockburn, D. J., Hughes, G., Jones, W. A., Laing, N. G., Ray, P. N. et al. 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 gene. Gene 222, 41-51 (1998).
18. Suminaga, R., Takeshima, Y., Yasuda, K., Shiga, N., Nakamura, H. & Matsuo, M. Nonhomologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability. J. Hum. Genet. 45, 331-336 (2000).
19. Nobile, C., Toffolatti, L., Rizzi, F., Simionati, B., Nigro, V., Cardazzo, B. et al. Analysis of 22 deletion breakpoints in dystrophin intron 49. Hum. Genet. 110, 418-421 (2002).
20. Krawczak, M. & Cooper, D. N. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet. 86, 425-441 (1991).
21. Froelich-Ammon, S. J., Gales, K. C. & Osheroff, N. Site-specific cleavage of a DNA hairpin by topoisomerase II. J. Biol. Chem. 269, 7719-7725 (1994).
22. Robinson, D. O., Bunyan, D. J., Gabb, H. A., Temple, I. K. & Yau, S. C. A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis. Hum. Genet. 99, 658-662 (1997).
23. Spitzner, J. R., Chung, I. K. & Muller, M. T. Eukaryotic topoisomerase II preferentially cleaves alternating purine-pyrimidine repeats. Nucleic Acids Res. 18, 1-11 (1990).