Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference

Human Molecular Genetics

Volumn 12, Issue 20, 2003, Pages 2637-2644

  Abdelgany, Amr ^a   Wood, Matthew ^b   Beeson, David ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA BUNGAROTOXIN I 125; CHOLINERGIC RECEPTOR; RECEPTOR SUBUNIT; RNA;

ALLELE; ARTICLE; CONTROLLED STUDY; DOMINANT INHERITANCE; DOWN REGULATION; EATON LAMBERT SYNDROME; EXPERIMENTAL MODEL; GENE EXPRESSION; GENE SILENCING; GENETIC CODE; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; MAMMAL CELL; MISSENSE MUTATION; MUTANT; NEUROMUSCULAR DISEASE; NEUROMUSCULAR SYNAPSE; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; RNA SEQUENCE; RNA TRANSCRIPTION; SLOW CHANNEL CONGENITAL MYASTHENIC SYNDROME; WILD TYPE;

ALLELES; ANIMALS; BASE PAIR MISMATCH; BASE SEQUENCE; CELL LINE; DNA; DOWN-REGULATION; GENE SILENCING; HUMANS; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDES; PROMOTER REGIONS (GENETICS); RECEPTORS, CHOLINERGIC; RNA; RNA INTERFERENCE; RNA, SMALL INTERFERING; SYNAPSES; TRANSCRIPTION, GENETIC; TRANSFECTION;

MAMMALIA;

EID: 0141886425     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg280     Document Type: Article

References (28)

1. Sullenger, B.A. and Gilboa, E. (2002) Emerging clinical applications of RNA. Nature, 418, 252-258.
2. Hannon, G.J. (2002) RNA interference. Nature, 418, 244-251.
3. McManus, M.T. and Sharp, P.A. (2002) Gene silencing in mammals by small interfering RNAs. Nat. Rev. Genet., 3, 737-747.
4. Fire, A., Xu, S., Montgomery, M.K., Kostas, S.A., Driver, S.E. and Mello, C.C. (1998) Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature, 391, 806-811.
5. Elbashir, S.M., Harborth, J., Lendeckel, W., Yalcin, A., Weber, K. and Tuschl, T. (2001) Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature, 411, 494-498.
6. Brummelkamp, T.R., Bernards, R. and Agami, R. (2002) A system for stable expression of short interfering RNAs in mammalian cells. Science, 296, 550-553.
7. Paddison, P.J., Caudy, A.A. and Hannon, G.J. (2002) Stable suppression of gene expression by RNAi in mammalian cells. Proc. Natl Acad. Sci. USA, 99, 1443-1448.
8. Yu, J.Y., DeRuiter, S.L. and Turner, D.L. (2002) RNA interference by expression of short-interfering RNAs and hairpin RNAs in mammalian cells. Proc. Natl Acad. Sci. USA, 99, 6047-6052.
9. Lee, N.S., Dohjima, T., Bauer, G., Li, H., Li, M.J., Ehsani, A., Salvaterra, P. and Rossi, J. (2002) Expression of small interfering RNAs targeted against HIV-1 rev transcripts in human cells. Nat. Biotechnol., 20, 500-505.
10. Miyagishi, M. and Taira, K. (2002) U6 promoter-driven siRNAs with four uridine 3′ overhangs efficiently suppress targeted gene expression in mammalian cells. Nat. Biotechnol., 20, 497-500.
11. Elbashir, S.M., Martinez, J., Patkaniowska, A., Lendeckel, W. and Tuschl, T. (2001) Functional anatomy of siRNAs for mediating efficient RNAi in Drosophila melanogaster embryo lysate. EMBO J., 20, 6877-6888.
12. Engel, A.G., Ohno, K. and Sine, S.M. (2003) Neurological diseases: Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat. Rev. Neurosci., 4, 339-352.
13. Croxen, R., Hatton, C., Shelley, C., Brydson, M., Chauplannaz, G., Oosterhuis, H., Vincent, A., Newsom-Davis, J., Colquhoun, D. and Beeson, D. (2002) Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. Neurology, 59, 162-168.
14. Ohno, K., Wang, H.L., Shen, X.-M., Milone, M., Bernasconi, L. and Engel, A.G. (2000) Slow-channel mutations in the center of M1 transmembrane domain of the acetylcholine receptor alpha-subunit. Neurology, 54 (suppl.), A183.
15. Jacobson, L., Beeson, D., Tzartos, S. and Vincent, A. (1999) Monoclonal antibodies raised against human acetylcholine receptor bind to all five subunits of the fetal isoform. J. Neuroimmunol., 98, 112-120.
16. Holen, T., Amarzguioui, M., Wiiger, M.T, Babaie, E. and Prydz, H. (2002) Positional effects of short interfering RNAs targeting the human coagulation trigger Tissue Factor. Nucl. Acids Res., 30, 1757-1766.
17. Paul, C.P., Good, P.D., Winer, I. and Engelke, DR. (2002) Effective expression of small interfering RNA in human cells. Nat. Biotechnol., 20, 505-508.
18. Donze, O. and Picard, D. (2002) RNA interference in mammalian cells using siRNAs synthesized with T7 RNA polymerase. Nucl. Acids Res., 30, e46.
19. Paddison, P.J., Candy, A.A., Bernstein, E., Hannon, G.J. and Conklin, D.S. (2002) Short hairpin RNAs (shRNAs) induce sequence-specific silencing in mammalian cells. Genes Dev., 16, 948-958.
20. Hamada, M., Ohtsuka, T., Kawaida, R., Koizumi, M., Morita, K., Furukawa, H., Imanishi, T., Miyagishi, M. and Taira, K. (2002) Effects on RNA interference in gene expression (RNAi) in cultured mammalian cells of mismatches and the introduction of chemical modifications at the 3′-ends of siRNAs. Antisense Nucl. Acid Drug Dev., 12, 301-309.
21. Boutla, A., Delidakis, C., Livadaras, I., Tsagris, M. and Tabler, M. (2001) Short 5′-phosphorylated double-stranded RNAs induce RNA interference in Drosophila. Curr. Biol., 11, 1776-1780.
22. Gomez, C.M., Maselli, R.A., Groshong, J., Zayas, R., Wollmann, R.L., Cens, T. and Charnet, P. (2002) Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome. J. Neurosci., 22, 6447-6457.
23. Kaminski, H. and Ruff, R. (1999) Structure and kinetic properties of the acetylcholine receptor. In Engel, A. (ed.), Myasthenia Gravis and Myasthenic Disorders. Oxford University Press, New York, pp. 40-64.
24. Lotharius, J. and Brundin, P. (2002) Pathogenesis of Parkinson's disease: dopamine, vesicles and alpha-synuclein. Nat. Rev. Neurosci., 3, 932-942.
25. Gonzales-Alegre, P., Miller, M., Davidson, B. and Paulson, H.L. (2003) Towards therapy for DYT1 dystonia: allele-specific silencing of mutant TorsinA. Ann. Neurol., 53, 781-787.
26. Miller, V., Xia, H., Marrs, G., Gouvion, C., Lee, G., Davidson, B. and Paulson, H. (2003) Allele-specific silencing of dominant disease genes. Proc. Natl Acad. Sci. USA, 100, 7195-7200.
27. Millington-Ward, S., Allers, C., Tuohy, G., Conget, P, Allen, D., McMahon, H.P., Kenna, P.F., Humphries, P. and Farrar, G.J. (2002) Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta. Hum. Mol. Genet., 11, 2201-2206.
28. Selkoe, D.J. (2001) Alzheimer's disease: genes, proteins, and therapy. Physiol. Rev., 81, 741-766.