Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality

Gene

Volumn 311, Issue 1-2, 2003, Pages 25-33

  Gualandi, Francesca ^a   Rimessi, Paola ^a   Cardazzo, Barbara ^b   Toffolatti, Luisa ^b   Dunckley, Matthew G ^c   Calzolari, Elisa ^a   Patarnello, Tomaso ^b   Muntoni, Francesco ^c   Ferlini, Alessandra ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

Breakpoint definition; Dilated cardiomyopathy; Dystrophin; Mobile elements; Splicing regulation

Indexed keywords

CYSTEINE; DYSTROPHIN; GLYCINE;

ARTICLE; BIOASSAY; CARDIOMYOPATHY; COMPARATIVE STUDY; EXON; GENE CONTROL; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENE TARGETING; GENOMICS; IN VITRO STUDY; INTRON; MOLECULAR MIMICRY; MULTIGENE FAMILY; NUCLEOTIDE SEQUENCE; PATIENT; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; TISSUE; X CHROMOSOME LINKAGE;

EID: 0038309083     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(03)00527-4     Document Type: Article

References (26)

1. Berget S.M. Exon recognition in vertebrate splicing. J. Biol. Chem. 270:1995;2411-2414.
2. Bies R.D., Maeda M., Roberts S.L., Holder E., Bohlmeyer T., Young J.B., Campbell K.P. A 5′ dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy. J. Mol. Cell. Cardiol. 29:1997;3175-3178.
3. Carlo T., Sterner D., Berget S.M. An intron splicing enhancer containing a G-rich repeat facilitates inclusion of a vertebrate micro-exon. RNA. 2:1996;342-353.
4. Deininger P.L., Batzer M.A. Mammalian retroelements. Genome Res. 12(10):2002;1455-1465.
5. Dominski Z., Kole R. Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides. Proc. Natl. Acad. Sci. USA. 90:1993;8673-8677.
6. Eperon I.C., Makarova O.V., Mayeda A., Munroe S.H., Caceres J.F., Hayward D.G., Krainer A.R. Selection of alternative 5′ splice sites: role of U1 snRNP and models for the antagonistic effects of SF2/ASF and hnRNP A1. Mol. Cell. Biol. 20:2000;8303-8318.
7. Fairbrother W.G., Yeh R.F., Sharp P.A., Burge C.B. Predictive identification of exonic splicing enhancers in human genes. Science. 297:2002;1007-1013.
8. Ferlini A., Galie N., Merlini L., Sewry C., Branzi A., Muntoni F. A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am. J. Hum. Genet. 63:1998;436-446.
9. Ferlini A., Sewry C., Melis M.A., Mateddu A., Muntoni F. X-linked dilated cardiomyopathy and the dystrophin gene. A review. Neuromuscul. Disord. 9:1999;339-346.
10. Galvagni F., Saad F.A., Danieli G.A., Miorin M., Vitello L., Mostacciolo M.L., Angelini C. A study on duplications of the dystrophin gene: evidence of a geographical difference in the distribution of breakpoints by intron. Hum. Genet. 94:1994;83-87.
11. Hastings M.L., Wilson C.M., Munroe S.H. A purine-rich intronic element enhances alternative splicing of thyroid hormone receptor mRNA. RNA. 7:2001;859-874.
12. Hurst G.D., Werren J.H. The role of selfish genetic elements in eukaryotic evolution. Nat. Rev. Genet. 2:2001;597-606.
13. Kazazian H.H. Jr, Moran J.V. The impact of L1 retrotransposons on the human genome. Nat. Genet. 19:1998;19-24.
14. Lorson C.L., Elliot J.A. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum. Mol. Genet. 9:2000;259-265.
15. McCullough A.J., Berget S.M. An intronic splicing enhancer binds U1snRNPs to enhance splicing and select 5′ splice site. Mol. Cell. Biol. 20:2000;9225-9235.
16. McNaughton J.C., Hughes G., Jones W.A., Stockwell P.A., Klamut H.J., Petersen G.B. The evolution of an intron: analysis of a long, deletion-prone intron in the human dystrophin gene. Genomics. 40:1997;294-304.
17. Moran J.V., DeBerardinis R.J., Kazazian H.H. Jr. Exon shuffling by L1 retrotransposition. Science. 283:1999;1530-1534.
18. Muntoni F., Cau M., Ganau A., Congiu R., Arvedi G., Mateddu A., Marrosu M.G., Cianchetti C., Reali G., Cao A., et al. Brief report: deletion in the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N. Engl. J. Med. 329:1993;921-925.
19. Muntoni F., Melis M.A., Ganau A., Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am. J. Hum. Genet. 56:1995;151-157.
20. Sierakowska H., Sambade M.J., Agrawal S., Kole R. Repair of thalassemic human beta-globin mRNA in mammalian cells by antisense oligonucleotides. Proc. Natl. Acad. Sci. USA. 93:1996;12840-12844.
21. Smith C.W., Valcarcel J. Alternative pre-mRNA splicing: the logic of combinatorial control. Trends Biochem. Sci. 25:2000;381-388.
22. Stouthamer R., van Tilborg M., de Jong J.H., Nunney L., Luck R.F. Selfish element maintains sex in natural populations of a parasitoid wasp. Proc. R. Soc. Lond. B Biol. Sci. 268:2001;617-622.
23. Sun H., Chasin L.A. Multiple splicing defects in an intronic false exon. Mol. Cell. Biol. 20:2000;6414-6425.
24. Tamura K., Nei M. Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees. Mol. Biol. Evol. 10:1993;512-526.
25. Toffolatti L., Cardazzo B., Nobile C., Danieli G.A., Gualandi F., Muntoni F., Abbs S., Zanetti P., Angelini C., Ferlini A., Fanin M., Patarnello T. Investigating the mechanism of chromosomal deletion: characterisation of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics. 80:2002;523-530.
26. Thompson J.D., Gibson T.J., Plewniak F., Jeanmougin F., Higgins D.G. The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acid Res. 25:1997;4876-4882.