RNAi therapy for dominant muscular dystrophies and other myopathies

Muscle Gene Therapy

Volumn , Issue , 2010, Pages 99-115

  Wallace, Lindsay M ^a   Garwick, Sara E ^a   Harper, Scott Q ^a  

^a OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 80054716611     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4419-1207-7_7     Document Type: Chapter

References (97)

1. Bartel, D. P. (2004). MicroRNAs: genomics, biogenesis, mechanism, and function. Cell 116, 281-297.
2. Berul, C. I., Maguire, C. T., Aronovitz, M. J., Greenwood, J., Miller, C., Gehrmann, J., Housman, D., Mendelsohn, M. E., and Reddy, S. (1999). DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J Clin Invest 103, R1-7.
3. Borchert, G. M., Lanier, W., and Davidson, B. L. (2006). RNA polymerase III transcribes human microRNAs. Nat Struct Mol Biol 13, 1097-1101.
4. Boudreau, R. L., Martins, I., and Davidson, B. L. (2009). Artificial microRNAs as siRNA shuttles: improved safety as compared to shRNAs in vitro and in vivo. Mol Ther 17, 169-175.
5. Cai, X., Hagedorn, C. H., and Cullen, B. R. (2004). Human microRNAs are processed from capped, polyadenylated transcripts that can also function as mRNAs. RNA 10, 1957-1966.
6. Carbone, I., Bruno, C., Sotgia, F., Bado, M., Broda, P., Masetti, E., Panella, A., Zara, F., Bricarelli, F. D., Cordone, G., et al. (2000). Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology 54, 1373-1376.
7. Celegato, B., Capitanio, D., Pescatori, M., Romualdi, C., Pacchioni, B., Cagnin, S., Vigano, A., Colantoni, L., Begum, S., Ricci, E., et al. (2006). Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes. Proteomics 6, 5303-5321.
8. Cho, D. H., and Tapscott, S. J. (2007). Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta 1772, 195-204.
9. Corbett, M. A., Akkari, P. A., Domazetovska, A., Cooper, S. T., North, K. N., Laing, N. G., Gunning, P. W., and Hardeman, E. C. (2005). An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Ann Neurol 57, 42-49.
10. De Haan, A., Van Der Vliet, M. R., Gommans, I. M., Hardeman, E. C., and Van Engelen, B. G. (2002). Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths. Neuromuscul Disord 12, 952-957.
11. Dixit, M., Ansseau, E., Tassin, A., Winokur, S., Shi, R., Qian, H., Sauvage, S., Matteotti, C., Van Acker, A. M., Leo, O., et al. (2007). DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A 104, 18157-18162.
12. Du, G., Yonekubo, J., Zeng, Y. Osisami, M., and Frohman, M. A. (2006). Design of expression vectors for RNA interference based on miRNAs and RNA splicing. FEBS J 273, 5421-5427.
13. Durling, H. J., Reilich, P., Muller-Hocker, J., Mendel, B., Pongratz, D., Wallgren-Pettersson, C., Gunning, P., Lochmuller, H., and Laing, N. G. (2002). De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. Neuromuscul Disord 12, 947-951.
14. Eisenberg, I., Eran, A., Nishino, I., Moggio, M., Lamperti, C., Amato, A. A., Lidov, H. G., Kang, P. B., North, K. N., Mitrani-Rosenbaum, S., et al. (2007). Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A 104, 17016-17021.
15. Elbashir, S. M., Harborth, J., Lendeckel, W., Yalcin, A., Weber, K., and Tuschl, T. (2001a). Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature 411, 494-498.
16. Elbashir, S. M., Lendeckel, W., and Tuschl, T. (2001b). RNA interference is mediated by 21- and 22-nucleotide RNAs. Genes Dev 15, 188-200.
17. Fechner, H., Sipo, I., Westermann, D., Pinkert, S., Wang, X., Suckau, L., Kurreck, J., Zeichhardt, H., Muller, O., Vetter, R., et al. (2008). Cardiac-targeted RNA interference mediated by an AAV9 vector improves cardiac function in coxsackievirus B3 cardiomyopathy. J Mol Med 86, 987-997.
18. 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.
19. Flanigan, K. M., Coffeen, C. M., Sexton, L., Stauffer, D., Brunner, S., and Leppert, M. F. (2001). Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord 11, 525-529.
20. Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., et al. (2005). A mutation in myotilin causes spheroid body myopathy. Neurology 65, 1936-1940.
21. Gabellini, D., Green, M. R., and Tupler, R. (2002). Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110, 339-348.
22. Gabellini, D., Tupler, R., and Green, M. R. (2003). Transcriptional derepression as a cause of genetic diseases. Curr Opin Genet Dev 13, 239-245.
23. Gabellini, D., D'Antona, G., Moggio, M., Prelle, A., Zecca, C., Adami, R., Angeletti, B., Ciscato, P., Pellegrino, M. A., Bottinelli, R., et al. (2006). Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 439, 973-977.
24. Galbiati, F., Engelman, J. A., Volonte, D., Zhang, X. L., Minetti, C., Li, M., Hou, H., Jr., Kneitz, B., Edelmann, W., and Lisanti, M. P. (2001). Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities. J Biol Chem 276, 21425-21433.
25. Garvey, S. M., Miller, S. E., Claflin, D. R., Faulkner, J. A., and Hauser, M. A. (2006). Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. Hum Mol Genet 15, 2348-2362.
26. Gregory, R. I., Yan, K. P., Amuthan, G., Chendrimada, T., Doratotaj, B., Cooch, N., and Shiekhattar, R. (2004). The Microprocessor complex mediates the genesis of microRNAs. Nature 432, 235-240.
27. Grimm, D., Streetz, K. L., Jopling, C. L., Storm, T. A., Pandey, K., Davis, C. R., Marion, P., Salazar, F., and Kay, M. A. (2006). Fatality in mice due to oversaturation of cellular microRNA/short hairpin RNA pathways. Nature 441, 537-541.
28. Han, J., Lee, Y. Yeom, K. H., Kim, Y. K., Jin, H., and Kim, V. N. (2004). The Drosha-DGCR8 complex in primary microRNA processing. Genes Dev 18, 3016-3027.
29. Han, J., Lee, Y. Yeom, K. H., Nam, J. W., Heo, I., Rhee, J. K., Sohn, S. Y., Cho, Y. Zhang, B. T., and Kim, V. N. (2006). Molecular basis for the recognition of primary microRNAs by the Drosha-DGCR8 complex. Cell 125, 887-901.
30. Harper, P. S. (1989). Myotonic dystrophy (2nd ed.) (London, W. B. Saunders).
31. Harper, S. Q., Staber, P. D., He, X., Eliason, S. L., Martins, I. H., Mao, Q., Yang, L., Kotin, R. M., Paulson, H. L., and Davidson, B. L. (2005). RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model. Proc Natl Acad Sci U S A 102, 5820-5825.
32. Harper, S. Q., Staber, P. D., Beck, C. R., Fineberg, S. K., Stein, C., Ochoa, D., and Davidson, B. L. (2006). Optimization of feline immunodeficiency virus vectors for RNA interference. J Virol 80, 9371-9380.
33. Hauser, M. A., Horrigan, S. K., Salmikangas, P., Torian, U. M., Viles, K. D., Dancel, R., Tim, R. W., Taivainen, A., Bartoloni, L., Gilchrist, J. M., et al. (2000). Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 9, 2141-2147.
34. Hauser, M. A., Conde, C. B., Kowaljow, V., Zeppa, G., Taratuto, A. L., Torian, U. M., Vance, J., Pericak-Vance, M. A., Speer, M. C., and Rosa, A. L. (2002). Myotilin mutation found in second pedigree with LGMD1A. Am J Hum Genet 71, 1428-1432.
35. Ilkovski, B., Mokbel, N., Lewis, R. A., Walker, K., Nowak, K. J., Domazetovska, A., Laing, N. G., Fowler, V. M., North, K. N., and Cooper, S. T. (2008). Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy. J Neuropathol Exp Neurol 67, 867-877.
36. INSERM and French Ministry of Health. (2008). Prevalence of Rare Diseases: Bibliographic Data. In Orphanet Report http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence-of-rare-diseases-by-alphabetical-list.pdf
37. Kee, A. J., and Hardeman, E. C. (2008). Tropomyosins in skeletal muscle diseases. Adv Exp Med Biol 644, 143-157.
38. Kurosawa, T., Igarashi, S., Nishizawa, M., and Onodera, O. (2005). Selective silencing of a mutant transthyretin allele by small interfering RNAs. Biochem Biophys Res Commun 337, 1012-1018.
39. Lagos-Quintana, M., Rauhut, R., Lendeckel, W., and Tuschl, T. (2001). Identification of novel genes coding for small expressed RNAs. Science 294, 853-858.
40. Lagos-Quintana, M., Rauhut, R., Yalcin, A., Meyer, J., Lendeckel, W., and Tuschl, T. (2002). Identification of tissue-specific microRNAs from mouse. Curr Biol 12, 735-739.
41. Lagos-Quintana, M., Rauhut, R., Meyer, J., Borkhardt, A., and Tuschl, T. (2003). New microRNAs from mouse and human. RNA 9, 175-179.
42. Lai, E. C. (2002). Micro RNAs are complementary to 3' UTR sequence motifs that mediate negative post-transcriptional regulation. Nat Genet 30, 363-364.
43. Laing, N. G., Wilton, S. D., Akkari, P. A., Dorosz, S., Boundy, K., Kneebone, C., Blumbergs, P., White, S., Watkins, H., Love, D. R., et al. (1995). A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 10, 249.
44. Landthaler, M., Yalcin, A., and Tuschl, T. (2004). The human DiGeorge syndrome critical region gene 8 and Its D.melanogaster homolog are required for miRNA biogenesis. Curr Biol 14, 2162-2167.
45. Langlois, M. A., Boniface, C., Wang, G., Alluin, J., Salvaterra, P. M., Puymirat, J., Rossi, J. J., and Lee, N. S. (2005). Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells. J Biol Chem 280, 16949-16954.
46. Laoudj-Chenivesse, D., Carnac, G., Bisbal, C., Hugon, G., Bouillot, S., Desnuelle, C., Vassetzky, Y., and Fernandez, A. (2005). Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. J Mol Med 83, 216-224.
47. Lee, Y. Jeon, K., Lee, J. T., Kim, S., and Kim, V. N. (2002). MicroRNA maturation: stepwise processing and subcellular localization. EMBO J 21, 4663-4670.
48. Lee, H. C., Patel, M. K., Mistry, D. J., Wang, Q., Reddy, S., Moorman, J. R., and Mounsey, J. P. (2003a). Abnormal Na channel gating in murine cardiac myocytes deficient in myotonic dystrophy protein kinase. Physiol Genomics 12, 147-157.
49. Lee, Y. Ahn, C., Han, J., Choi, H., Kim, J., Yim, J., Lee, J., Provost, P., Radmark, O., Kim, S., et al. (2003b). The nuclear RNase III Drosha initiates microRNA processing. Nature 425, 415-419.
50. Lee, Y. Kim, M., Han, J., Yeom, K. H., Lee, S., Baek, S. H., and Kim, V. N. (2004). MicroRNA genes are transcribed by RNA polymerase II. EMBO J 23, 4051-4060.
51. Lehtokari, V. L., Pelin, K., Donner, K., Voit, T., Rudnik-Schoneborn, S., Stoetter, M., Talim, B., Topaloglu, H., Laing, N. G., and Wallgren-Pettersson, C. (2008). Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Eur J Hum Genet 16, 1055-1061.
52. Lemmers, R. J., Wohlgemuth, M., Van Der Gaag, K. J., Van Der Vliet, P. J., Van Teijlingen, C. M., De Knijff, P., Padberg, G. W., Frants, R. R., and Van Der Maarel, S. M. (2007). Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 81, 884-894.
53. Lewis, B. P., Burge, C. B., and Bartel, D. P. (2005). Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets. Cell 120, 15-20.
54. Li, M. J., Bauer, G., Michienzi, A., Yee, J. K., Lee, N. S., Kim, J., Li, S., Castanotto, D., Zaia, J., and Rossi, J. J. (2003). Inhibition of HIV-1 infection by lentiviral vectors expressing Pol III-promoted anti-HIV RNAs. Mol Ther 8, 196-206.
55. Matranga, C., Tomari, Y. Shin, C., Bartel, D. P., and Zamore, P. D. (2005). Passenger-strand cleavage facilitates assembly of siRNA into Ago2-containing RNAi enzyme complexes. Cell 123, 607-620.
56. McBride, J. L., Boudreau, R. L., Harper, S. Q., Staber, P. D., Monteys, A. M., Martins, I., Gilmore, B. L., Burstein, H., Peluso, R. W., Polisky, B., et al. (2008). Artificial miRNAs mitigate shRNA-mediated toxicity in the brain: implications for the therapeutic development of RNAi. Proc Natl Acad Sci U S A 105, 5868-5873.
57. Miller, V. M., Xia, H., Marrs, G. L., Gouvion, C. M., Lee, G., Davidson, B. L., and Paulson, H. L. (2003). Allele-specific silencing of dominant disease genes. Proc Natl Acad Sci U S A 100, 7195-7200.
58. Miller, V. M., Paulson, H. L., and Gonzalez-Alegre, P. (2005). RNA interference in neuroscience: progress and challenges. Cell Mol Neurobiol 25, 1195-1207.
59. Minetti, C., Sotgia, F., Bruno, C., Scartezzini, P., Broda, P., Bado, M., Masetti, E., Mazzocco, M., Egeo, A., Donati, M. A., et al. (1998). Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 18, 365-368.
60. Molnar, A., Schwach, F., Studholme, D. J., Thuenemann, E. C., and Baulcombe, D. C. (2007). miRNAs control gene expression in the single-cell alga Chlamydomonas reinhardtii. Nature 447, 1126-1129.
61. Molnar, A., Bassett, A., Thuenemann, E., Schwach, F., Karkare, S., Ossowski, S., Weigel, D., and Baulcombe, D. (2009). Highly specific gene silencing by artificial microRNAs in the unicellular alga Chlamydomonas reinhardtii. Plant J 58, 165-174
62. Mook, O. R., Baas, F., De Wissel, M. B., and Fluiter, K. (2009). Allele-specific cancer cell killing in vitro and in vivo targeting a single-nucleotide polymorphism in POLR2A. Cancer Gene Ther 16, 532-538.
63. Mounsey, J. P., Mistry, D. J., Ai, C. W., Reddy, S., and Moorman, J. R. (2000). Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase. Hum Mol Genet 9, 2313-2320.
64. Moza, M., Mologni, L., Trokovic, R., Faulkner, G., Partanen, J., and Carpen, O. (2007). Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. Mol Cell Biol 27, 244-252.
65. National Institutes of Health Office of Rare Diseases Research. (2009). In Rare Diseases and Related Terms http://rarediseasesinfonihgov/RareDiseaseListaspx?PageID=1
66. Ohrt, T., Mutze, J., Staroske, W., Weinmann, L., Hock, J., Crell, K., Meister, G., and Schwille, P. (2008). Fluorescence correlation spectroscopy and fluorescence cross-correlation spectroscopy reveal the cytoplasmic origination of loaded nuclear RISC in vivo in human cells. Nucleic Acids Res 36, 6439-6449.
67. Osborne, R. J., Welle, S., Venance, S. L., Thornton, C. A., and Tawil, R. (2007). Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 68, 569-577.
68. Paddison, P. J., Caudy, 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.
69. Penisson-Besnier, I., Monnier, N., Toutain, A., Dubas, F., and Laing, N. (2007). A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. Neuromuscul Disord 17, 330-337.
70. Provost, P., Dishart, D., Doucet, J., Frendewey, D., Samuelsson, B., and Radmark, O. (2002). Ribonuclease activity and RNA binding of recombinant human Dicer. EMBO J 21, 5864-5874.
71. Quinzii, C. M., Vu, T. H., Min, K. C., Tanji, K., Barral, S., Grewal, R. P., Kattah, A., Camano, P. Otaegui, D., Kunimatsu, T., et al. (2008). X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet 82, 208-213.
72. Reddy, S., Smith, D. B., Rich, M. M., Leferovich, J. M., Reilly, P., Davis, B. M., Tran, K., Rayburn, H., Bronson, R., Cros, D., et al. (1996). Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet 13, 325-335.
73. Reed, P. W., Corse, A. M., Porter, N. C., Flanigan, K. M., and Bloch, R. J. (2007). Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. Exp Neurol 205, 583-586.
74. Rethinasamy, P., Muthuchamy, M., Hewett, T., Boivin, G., Wolska, B. M., Evans, C., Solaro, R. J., and Wieczorek, D. F. (1998). Molecular and physiological effects of alpha-tropomyosin ablation in the mouse. Circ Res 82, 116-123.
75. Ro, S., Park, C., Young, D., Sanders, K. M., and Yan, W. (2007). Tissue-dependent paired expression of miRNAs. Nucleic Acids Res 35, 5944-5953.
76. Robb, G. B., Brown, K. M., Khurana, J., and Rana, T. M. (2005). Specific and potent RNAi in the nucleus of human cells. Nat Struct Mol Biol 12, 133-137.
77. Rodriguez-Lebron, E., and Paulson, H. L. (2006). Allele-specific RNA interference for neurological disease. Gene Ther 13, 576-581.
78. Rose, S. D., Kim, D. H., Amarzguioui, M., Heidel, J. D., Collingwood, M. A., Davis, M. E., Rossi, J. J., and Behlke, M. A. (2005). Functional polarity is introduced by Dicer processing of short substrate RNAs. Nucleic Acids Res 33, 4140-4156.
79. Saydam, O., Glauser, D. L., Heid, I., Turkeri, G., Hilbe, M., Jacobs, A. H., Ackermann, M., and Fraefel, C. (2005). Herpes simplex virus 1 amplicon vector-mediated siRNA targeting epidermal growth factor receptor inhibits growth of human glioma cells in vivo. Mol Ther 12, 803-812.
80. Schroder, R., Reimann, J., Salmikangas, P., Clemen, C. S., Hayashi, Y. K., Nonaka, I., Arahata, K., and Carpen, O. (2003). Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. Neuromuscul Disord 13, 451-455.
81. Schwarz, D. S., Ding, H., Kennington, L., Moore, J. T., Schelter, J., Burchard, J., Linsley, P. S., Aronin, N., Xu, Z., and Zamore, P. D. (2006). Designing siRNA that distinguish between genes that differ by a single nucleotide. PLoS Genet 2, e140.
82. Selcen, D., and Engel, A. G. (2004). Mutations in myotilin cause myofibrillar myopathy. Neurology 62, 1363-1371.
83. Tan, P. Briner, J., Boltshauser, E., Davis, M. R., Wilton, S. D., North, K., Wallgren-Pettersson, C., and Laing, N. G. (1999). Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. Neuromuscul Disord 9, 573-579.
84. Tang, G. (2005). siRNA and miRNA: an insight into RISCs. Trends Biochem Sci 30, 106-114.
85. Tawil, R., and Van Der Maarel, S. M. (2006). Facioscapulohumeral muscular dystrophy. Muscle Nerve 34, 1-15.
86. Traverso, M., Gazzerro, E., Assereto, S., Sotgia, F., Biancheri, R., Stringara, S., Giberti, L., Pedemonte, M., Wang, X., Scapolan, S., et al. (2008). Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro. Lab Invest 88, 275-283.
87. Van Deutekom, J. C., Wijmenga, C., Van Tienhoven, E. A., Gruter, A. M., Hewitt, J. E., Padberg, G. W., Van Ommen, G. J., Hofker, M. H., and Frants, R. R. (1993). FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 2, 2037-2042.
88. Van Deutekom, J. C., Lemmers, R. J., Grewal, P. K., Van Geel, M., Romberg, S., Dauwerse, H. G., Wright, T. J., Padberg, G. W., Hofker, M. H., Hewitt, J. E., et al. (1996). Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 5, 581-590.
89. Weinmann, L., Hock, J., Ivacevic, T., Ohrt, T., Mutze, J., Schwille, P., Kremmer, E., Benes, V. Urlaub, H., and Meister, G. (2009). Importin 8 is a gene silencing factor that targets argonaute proteins to distinct mRNAs. Cell 136, 496-507.
90. Wijmenga, C., Frants, R. R., Brouwer, O. F., Moerer, P., Weber, J. L., and Padberg, G. W. (1990). Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 336, 651-653.
91. Wijmenga, C., Hewitt, J. E., Sandkuijl, L. A., Clark, L. N., Wright, T. J., Dauwerse, H. G., Gruter, A. M., Hofker, M. H., Moerer, P., Williamson, R., et al. (1992). Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2, 26-30.
92. Winokur, S. T., Chen, Y. W., Masny, P. S., Martin, J. H., Ehmsen, J. T., Tapscott, S. J., Van Der Maarel, S. M., Hayashi, Y. and Flanigan, K. M. (2003). Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet 12, 2895-2907.
93. Xia, H., Mao, Q., Eliason, S. L., Harper, S. Q., Martins, I. H., Orr, H. T., Paulson, H. L., Yang, L., Kotin, R. M., and Davidson, B. L. (2004). RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med 10, 816-820.
94. Zeng, Y. and Cullen, B. R. (2004). Structural requirements for pre-microRNA binding and nuclear export by Exportin 5. Nucleic Acids Res 32, 4776-4785.
95. Zeng, Y., Cai, X., and Cullen, B. R. (2005). Use of RNA polymerase II to transcribe artificial microRNAs. Methods Enzymol 392, 371-380.
96. Zhang, H., Kolb, F. A., Brondani, V., Billy, E., and Filipowicz, W. (2002). Human Dicer preferentially cleaves dsRNAs at their termini without a requirement for ATP. EMBO J 21, 5875-5885.
97. Zhang, H., Kolb, F. A., Jaskiewicz, L., Westhof, E., and Filipowicz, W. (2004). Single processing center models for human Dicer and bacterial RNase III. Cell 118, 57-68.