Alternative dystrophin gene transcripts in golden retriever muscular dystrophy

Muscle and Nerve

Volumn 21, Issue 8, 1998, Pages 991-998

  Schatzberg, Scott J ^a   Anderson, Louise V B ^b   Wilton, Stephen D ^c   Kornegay, Joe N ^d   Mann, Christopher J ^c   Solomon, Gregory G ^a   Sharp, Nicholas J H ^a  

^a NORTH CAROLINA STATE UNIVERSITY   (United States)

^b NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^c Australian Neuromuscular Res Inst   (Australia)

^d UNIVERSITY OF MISSOURI   (United States)

Author keywords

Alternative splicing; Duchenne muscular dystrophy; Dystrophin; Exon skipping; Golden retriever muscular dystrophy

Indexed keywords

DYSTROPHIN;

ANIMAL MODEL; ARTICLE; DNA SEQUENCE; DOG; DUCHENNE MUSCULAR DYSTROPHY; GENE MUTATION; GENETIC TRANSCRIPTION; IMMUNOBLOTTING; NONHUMAN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALTERNATIVE SPLICING; ANIMALS; ANTIBODIES, MONOCLONAL; BASE SEQUENCE; BLOTTING, WESTERN; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; DOGS; DYSTROPHIN; EXONS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, ANIMAL; PHENOTYPE; POLYMERASE CHAIN REACTION; TRANSCRIPTION, GENETIC;

EID: 0031806209     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199808)21:8<991::AID-MUS2>3.0.CO;2-0     Document Type: Article

References (35)

1. Angelini C, Pegoraro E, Turella E, Intino M, Pini A, Costa C: Deflazacort in Duchenne dystrophy: study of long-term effect. Muscle Nerve 1994;17:386-391.
2. Campbell K, Crosbie R: Muscular dystrophy. Utrophin to the rescue. Nature 1996;384:308-309.
3. Chelly J, Gilgenkrantz H, Lambert M, Hamard G, Chafey P, Recan D, Katz P, de la Chapelle A, Koenig M, Ginjaar I, Fardeau M, Tome F, Kahn A, Kaplan J-C: Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell 1990;63:1239-1248.
4. Corrado K, Mills P, Chamberlain J: Deletion analysis of the dystrophin-actin binding domain. FEBS Lett 1994;344: 255-260.
5. Corrado K, Rafael J, Mills P, Cole N, Faulkner J, Wang K: Transgenic mdx mice expressing dystrophin with a deletion in the actin-binding domain display a "mild Becker" phenotype. J Cell Biol 1996;134:873-884.
6. Ervasti J, Kahl S, Campbell K: Purification of dystrophin from skeletal muscle. J Biol Chem 1991;266:9161-9165.
7. Fanin M, Danieli G, Cadalina M, Miorin M, Vitiello L, Angelini C: Dystrophin-positive fibers in Duchenne dystrophy: origin and correlation to clinical course. Muscle Nerve 1995;18: 1115-1120.
8. Hoffman E, Knudson C, Campbell K, Kunkel L: Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature 1987;330:754-758.
9. Hoffman E, Morgan J, Watkins S, Partridge T: Somatic reversion/suppression of the mouse mdx phenotype in vivo. J Neurol Sci 1990;99:9-25.
10. Kissel J, Lynn D, Rammohan K, Klein J, Griggs R, Moxley R, Cwik V, Brooke M, Mendell J: Mononuclear cell analysis of muscle biopsies in prednisone- and azathioprine treated Duchenne muscular dystrophy. Neurology 1993;43:532-536.
11. Koenig M, Beggs A, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Muller C, Lindlof M, Kaariainen H, de la Chapelle A, Kiuru A, Savontaus M-L, Gilgenkrantz H, Recan D, Chelly J, Kaplan J-C, Covone A, Archidiancono N, Romeo G, Leichti-Gallati S, Schneider V, Braga S, Moser H, Darras B, Wrogermann K, Blonden L, van Paassen H, van Ommen G, Kunkel L: The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 1989;45:498-506.
12. Kornegay J, Sharp N, Bogan D, Van Camp S, Metcalf J, Schuler R: Contraction tension and kinetics of the peroneus longus muscle in golden retriever muscular dystrophy. J Neurol Sci 1994;123:100-107.
13. Kornegay J, Sharp N, Schueler R, Betts C: Tarsal joint contracture in dogs with golden retriever muscular dystrophy. Lab Anim Sci 1994;44:331-333.
14. Lenk U, Oexle K, Voit T, Ancker U, Hellner K, Speer A, Hubner C: A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. Hum Mol Genet 1996;5:973-975.
15. Malhotra S, Hart K, Klamut H, Thomas N, Bodrug S, Burghes A, Bobrow M, Harper P, Thompson M, Ray P, Worton R: Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science 1988;242:755-759.
16. McKay N, Hunter D, Haites N, Power D: Regulation of alternative splicing of the fibronectin IIICS domain by cytokines. Biochem Biophys Res Commun 1994;199:1005-1011.
17. Medori R, Brooke M, Waterston R: Two dissimilar brothers with Becker's dystrophy have an identical genetic defect. Neurology 1989;39:1493-1496.
18. Monaco A, Bertelson C, Liechti-Gallati S, Moser H, Kunkel L: An explanation for the phenotype differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-95.
19. Nicholson L: The "rescue" of dystrophin synthesis in boys with Duchenne muscular dystrophy. Neuromuscul Disord 1993; 3:525-531.
20. Nicholson L, Davison K, Falkous G, Harwood C, O'Donnel E, Slater C, Harris J: Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody. J Neurol Sci 1989; 94:125-136.
21. Nicholson L, Davison K, Johnson M, Slater M, Young C, Battacharya S, Gardner-Medwin D, Harris J: Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophy. J Neurol Sci 1989;94:137-146.
22. Nicholson L, Johnson M, Bushby K, Gardner-Medwin D: Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy. Arch Dis Child 1993;68:632-636.
23. Nicholson L, Johnson M, Gardner-Medwin D, Bhattacharya S, Harris J: Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol (Berl) 1990;80:239-250.
24. Norgren S, Li L, Luthman H: Regulation of human insulin receptor RNA splicing in HepG2 cells: effects of glucocorticoid and low glucose concentration. Biochem Biophys Res Commun 1994;199:277-284.
25. Pramono Z, Takeshima Y, Alimsardjono H, Ishii A, Takeda S, Matsuo M: Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence. Biochem Biophys Res Commun 1996;226:445-449.
26. Sharp N: The Molecular Basis of Golden Retriever Muscular Dystrophy, the Canine Homologue of Duchenne Muscular Dystrophy. PhD Thesis. Department of Cell Biology, Duke University, Durham, NC, 1991.
27. Sharp N, Kornegay J, Van Camp S, Herbstreith M, Secore S, Kettle S, Hung W, Constantinou C, Dykstra M, Roses A, Bartlett R: An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics 1992;13:115-121.
28. Sherratt T, Vulliamy T, Dubowitz V, Sewry C, Strong P: Exon skipping and translation in patients with frameshift deletions in the dystrophin gene. Am J Hum Genet 1993;53:1007-1015.
29. Sierakowska H, Sambade M, Agrawal S, Kole R: Repair of thalassemic human beta-globin mRNA in mammalian cells by antisense oligonucleotides. Proc. Natl Acad Sci USA 1996;93: 12840-12844.
30. Toscano A, Vitiello L, Comi G, Galvagni F, Miorin M, Prelle A, Fortunato F, Bardoni A, Mora M, Fiumara A, Falsaperla R, Tomelleri G, Tonin P, Danieli G, Vita G: Duplication of dystrophin gene and dissimilar clinical phenotype in the same family. Neuromuscul Disord 1995;5:475-481.
31. Valentine B, Cooper B, de Lahunta A, O'Quinn R, Blue J: Canine X-linked muscular dystrophy. An animal model of Duchenne muscular dystrophy: clinical studies. J Neurol Sci 1988;88:69-81.
32. Wilton S, Dye D, Laing N: Dystrophin gene transcripts skipping the mdx mutation. Muscle Nerve 1997;20:728-734.
33. Winnard A, Mendell J, Prior T, Florence J, Burghes A: Frameshift deletions of exons 3-7 and revertan fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am J Hum Genet 1995;56:158-166.
34. Yao K, Godwin A, Johnson C, O'Dwyer P: Alternative splicing and differential expression of DT-diaphorase transcripts in human colon tumors and in peripheral mononuclear cells in response to mitomycin C treatment. Cancer Res 1996;56: 1731-1736.
35. Zubrzycka-Gaarn K, Bulman D, Karpati G, Burghes A, Belfall B, Klamut H, Talbot J, Hodges R, Ray P, Worton R: The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 1988;333: 466-469.