DMD pseudoexon mutations: Splicing efficiency, phenotype, and potential therapy

Annals of Neurology

Volumn 63, Issue 1, 2008, Pages 81-89

  Gurvich, Olga L ^a   Tuohy, Therese M ^a   Howard, Michael T ^a   Finkel, Richard S ^b   Medne, Livija ^b   Anderson, Christine B ^a   Weiss, Robert B ^a   Wilton, Steve D ^c   Flanigan, Kevin M ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; DYSTROPHIN; MESSENGER RNA;

ARTICLE; BECKER MUSCULAR DYSTROPHY; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLICEOSOME; WESTERN BLOTTING;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; CELLS, CULTURED; CHILD; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; GENE THERAPY; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MUSCLE FIBERS; MUSCULAR DYSTROPHY, DUCHENNE; MUTAGENESIS, INSERTIONAL; MUTATION; OLIGONUCLEOTIDES, ANTISENSE; PHENOTYPE; RNA PRECURSORS; RNA SPLICE SITES; RNA SPLICING;

EID: 39049095823     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.21290     Document Type: Article

References (35)

1. Monaco AP, Bertelson CJ, Liechti Gallati S, et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-95.
2. Wilton SD, Fletcher S. RNA splicing manipulation: strategies to modify gene expression for a variety of therapeutic ourcomes. Curr Gene Ther 2005;5:467-483.
3. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Gener 1990;86:45-48.
4. Bennett RR, Dunnen J, O'Brien KF, et al. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet 2001;2:17.
5. Flanigan KM, von Niederhausern A, Dunn DM, et al. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet 2003;72:931-939.
6. Schwartz M, Duno M. Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. Genet Test 2004;8:361-367.
7. Sellner LN, Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004;23:413-419.
8. Dent KM, Dunn DM, von Niederhausern AC, et al. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A 2005;134:295-298.
9. Yan J, Feng J, Buzin CH, et al. Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD). Hum Mutat 2004;23:203-204.
10. Ikezawa M, Nishino I, Goto Y, et al. Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. Online. Hum Mutat 1999;13:170.
11. Beroud C, Carrie A, Beldjord C, et al. Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. Neuromuscul Disord 2004;14:10-18.
12. Tuffery-Giraud S, Saquer C, Chambert S, Claustres M. Pseudo-exon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. Hum Mutat 2003;21:608-614.
13. Roberts RG, Barby TF, Manners E, et al. Direct detection of dystrophin gene rearrangement by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet 1991;49:298-310.
14. Gordon D, Desmarais C, Green P. Automated finishing with autofinish. Genome Res 2001;11:614-625.
15. Gordon D, Abajian C, Green P. Consed: a graphical tool for sequence finishing. Genome Res 1998;8:195-202.
16. Brunak S, Engelbrecht J, Knudsen S. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 1991;220:49-65.
17. Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol 1997;4:311-323.
18. Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 2004;11:377-394.
19. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987;15:7155-7174.
20. Senapathy P, Shapiro MB, Harris NL. Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Methods Enzymol 1990;183:252-278.
21. Cartegni L, Wang J, Zhu Z, et al. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003;31:3568-3571.
22. Tuffery S, Bareil C, Demaille J, Claustres M. Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients. Eur J Hum Genet 1996;4:143-152.
23. Fujii I, Matsukura M, Ikezawa M, et al. Adenoviral mediated MyoD gene transfer into fibroblasts: myogenic disease diagnosis. Brain Dev 2006;28:420-425.
24. Tuffery-Giraud S, Saquer C, Thorel D, et al. Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. Eur J Hum Genet 2005;13:1254-1260.
25. Howard MT, Shirts BH, Petros LM, et al. Sequence specificity of aminoglycoside-induced stop codon readthrough: potential implications for treatment of Duchenne muscular dystrophy. Ann Neurol 2000;48:164-169.
26. Howard MT, Anderson CB, Fass U, et al. Readthrough of dystrophin stop codon mutations induced by aminoglycosides. Ann Neurol 2004;55:422-426.
27. Fearon K, McClendon V, Bonetti B, Bedwell DM. Premature translation termination mutations are efficiently suppressed in a highly conserved region of yeast Ste6p, a member of the ATP-binding cassette (ABC) transporter family. J Biol Chem 1994;269:17802-17808.
28. Ginjaar IB, Kneppers AL, v d Meulen JD, et al. Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. Eur J Hum Genet 2000;8:793-796.
29. Horowitz DS, Krainer AR. Mechanisms for selecting 5′ splice sites in mammalian pre-mRNA splicing. Trends Genet 1994;10:100-106.
30. Zhang MQ. Statistical features of human exons and their flanking regions. Hum Mol Genet 1998;7:919-932.
31. Hwang DY, Cohen JB. Base pairing at the 5′ splice site with U1 small nuclear RNA promotes splicing of the upstream intron but may be dispensable for slicing of the downstream intron. Mol Cell Biol 1996;16:3012-3022.
32. Zheng ZM. Regulation of alternative RNA splicing by exon definition and exon sequences in viral and mammalian gene expression. J Biomed Sci 2004;11:278-294.
33. Sherratt TG, Vulliamy T, Dubowitz V, et al. Exon skipping and translation in patients with frameshift deletions in the dystrophin gene. Am J Hum Gener 1993;53:1007-1015.
34. Lu QL, Morris GE, Wilton SD, et al. Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion. J Cell Biol 2000;148:985-996.
35. Aartsma-Rus A, Bremmer-Bour M, Janson AA, et al. Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord 2002;12(suppl 1):S71-S77.