Erratum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice: (Nature Medicine (2014) 20 (992-1000) DOI:10.1038/nm.3628);Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

Nature Medicine

Volumn 20, Issue 9, 2014, Pages 992-1000

  Wein, Nicolas ^a   Vulin, Adeline ^a   Falzarano, Maria S ^b   Szigyarto, Christina Al Khalili ^c   Maiti, Baijayanta ^d   Findlay, Andrew ^a   Heller, Kristin N ^a   Uhlén, Mathias ^c   Bakthavachalu, Baskar ^a   Messina, Sonia ^e   Vita, Giuseppe ^e   Passarelli, Chiara ^f   Brioschi, Simona ^b   Bovolenta, Matteo ^b   Neri, Marcella ^b   Gualandi, Francesca ^b   Wilton, Steve D ^g   Rodino Klapac, Louise R ^a   Yang, Lin ^h   Dunn, Diane M ⁱ   Schoenberg, Daniel R ^a   Weiss, Robert B ⁱ   Howard, Michael T ⁱ   Ferlini, Alessandra ^b   Flanigan, Kevin M ^a   more..

^a OHIO STATE UNIVERSITY   (United States)

^b UNIVERSITY OF FERRARA   (Italy)

^c ROYAL INSTITUTE OF TECHNOLOGY   (Sweden)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF MESSINA   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g MURDOCH UNIVERSITY   (Australia)

^h UNIVERSITY OF KENTUCKY   (United States)

ⁱ UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DMD PROTEIN, HUMAN; DYSTROPHIN; ISOPROTEIN;

AMINO ACID SEQUENCE; ANIMAL; ARTICLE; CHEMISTRY; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENETICS; HUMAN; MOLECULAR GENETICS; MOUSE; PATHOLOGY; PHYSIOLOGY; PROTEIN SYNTHESIS; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMALS; DYSTROPHIN; EXONS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, DUCHENNE; PROTEIN BIOSYNTHESIS; PROTEIN ISOFORMS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84908315048     PISSN: 10788956     EISSN: 1546170X     Source Type: Journal    
DOI: 10.1038/nm0515-537c     Document Type: Erratum

References (72)

1. Monaco, A. P. Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene. Trends Biochem. Sci. 14, 412-415 (1989).
2. Flanigan, K. M. et al. DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. Neuromuscul. Disord. 19, 743-748 (2009).
3. Flanigan, K. M. et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum. Mutat. 30, 1657-1666 (2009).
4. Gurvich, O. L. et al. DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. Hum. Mutat. 30, 633-640 (2009).
5. Witting, N., Duno, M., Vissing, J. Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. Neuromuscul. Disord. 23, 25-28 (2013).
6. Gimona, M., Djinovic-Carugo, K., Kranewitter, W. J., Winder, S. J. Functional plasticity of CH domains. FEBS Lett. 513, 98-106 (2002).
7. Hertz, M. I., Landry, D. M., Willis, A. E., Luo, G., Thompson, S. R. Ribosomal protein S25 dependency reveals a common mechanism for diverse internal ribosome entry sites and ribosome shunting. Mol. Cell. Biol. 33, 1016-1026 (2013).
8. Spriggs, K. A., Bushell, M., Willis, A. E. Translational regulation of gene expression during conditions of cell stress. Mol. Cell 40, 228-237 (2010).
9. Jang, S. K. et al. A segment of the 5nontranslated region of encephalomyocarditis virus RNA directs internal entry of ribosomes during in vitro translation. J. Virol. 62, 2636-2643 (1988).
10. Miura, P., Thompson, J., Chakkalakal, J. V., Holcik, M., Jasmin, B. J. The utrophin A 5-untranslated region confers internal ribosome entry site-mediated translational control during regeneration of skeletal muscle fibers. J. Biol. Chem. 280, 32997-33005 (2005).
11. Miura, P., Andrews, M., Holcik, M., Jasmin, B. J. IRES-mediated translation of utrophin A is enhanced by glucocorticoid treatment in skeletal muscle cells. PLoS ONE 3, e2309 (2008).
12. Cornelis, S. et al. Identification and characterization of a novel cell cycle-regulated internal ribosome entry site. Mol. Cell 5, 597-605 (2000).
13. Komar, A. A. et al. Internal initiation drives the synthesis of Ure2 protein lacking the prion domain and affects [URE3] propagation in yeast cells. EMBO J. 22, 1199-1209 (2003).
14. Lauring, A. S., Overbaugh, J. Evidence that an IRES within the Notch2 coding region can direct expression of a nuclear form of the protein. Mol. Cell 6, 939-945 (2000).
15. Maier, D., Nagel, A. C., Preiss, A. Two isoforms of the Notch antagonist Hairless are produced by differential translation initiation. Proc. Natl. Acad. Sci. USA 99, 15480-15485 (2002).
16. Baird, S. D., Turcotte, M., Korneluk, R. G., Holcik, M. Searching for IRES. RNA 12, 1755-1785 (2006).
17. Heppner Goss, K., Trzepacz, C., Tuohy, T. M., Groden, J. Attenuated APC alleles produce functional protein from internal translation initiation. Proc. Natl. Acad. Sci. USA 99, 8161-8166 (2002).
18. White, S. J. et al. Duplications in the DMD gene. Hum. Mutat. 27, 938-945 (2006).
19. Shevchenko, A., Tomas, H., Havlis, J., Olsen, J. V., Mann, M. In-gel digestion for mass spectrometric characterization of proteins and proteomes. Nat. Protoc. 1, 2856-2860 (2006).
20. Ameur, A. et al. Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain. Nat. Struct. Mol. Biol. 18, 1435-1440 (2011).
21. Johannes, G., Carter, M. S., Eisen, M. B., Brown, P. O., Sarnow, P. Identification of eukaryotic mRNAs that are translated at reduced cap binding complex eIF4F concentrations using a cDNA microarray. Proc. Natl. Acad. Sci. USA 96, 13118-13123 (1999).
22. Murray, E. L., Schoenberg, D. R. Arich instability elements differentially activate 5-3and 3-5mRNA decay. Mol. Cell. Biol. 27, 2791-2799 (2007).
23. Stoneley, M. et al. Analysis of the c-myc IRES; a potential role for cell-type specific trans-acting factors and the nuclear compartment. Nucleic Acids Res. 28, 687-694 (2000).
24. Thompson, S. R. So you want to know if your message has an IRES Wiley interdisciplinary reviews. RNA 3, 697-705 (2012).
25. Kozak, M. A second look at cellular mRNA sequences said to function as internal ribosome entry sites. Nucleic Acids Res. 33, 6593-6602 (2005).
26. Wood, M. J., Gait, M. J., Yin, H. RNA-targeted splice-correction therapy for neuromuscular disease. Brain 133, 957-972 (2010).
27. Goyenvalle, A. et al. Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. Science 306, 1796-1799 (2004).
28. Vulin, A. et al. Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping. Mol. Ther. 20, 2120-2133 (2012).
29. Chaouch, S. et al. Immortalized skin fibroblasts expressing conditional MyoD as a renewable and reliable source of converted human muscle cells to assess therapeutic strategies for muscular dystrophies: validation of an exon-skipping approach to restore dystrophin in Duchenne muscular dystrophy cells. Hum. Gene Ther. 20, 784-790 (2009).
30. Aartsma-Rus, A. et al. Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites. Oligonucleotides 15, 284-297 (2005).
31. Matsumura, K., Ervasti, J. M., Ohlendieck, K., Kahl, S. D., Campbell, K. P. Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle. Nature 360, 588-591 (1992).
32. Kozak, M., Shatkin, A. J. Migration of 40 S ribosomal subunits on messenger RNA in the presence of edeine. J. Biol. Chem. 253, 6568-6577 (1978).
33. Calvo, S. E., Pagliarini, D. J., Mootha, V. K. Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. Proc. Natl. Acad. Sci. USA 106, 7507-7512 (2009).
34. Kozak, M. Context effects and inefficient initiation at non-AUG codons in eucaryotic cell-free translation systems. Mol. Cell. Biol. 9, 5073-5080 (1989).
35. Hellen, C. U., Sarnow, P. Internal ribosome entry sites in eukaryotic mRNA molecules. Genes Dev. 15, 1593-1612 (2001).
36. López-Lastra, M., Rivas, A., Barria, M. I. Protein synthesis in eukaryotes: the growing biological relevance of cap-independent translation initiation. Biol. Res. 38, 121-146 (2005).
37. Yaman, I. et al. The zipper model of translational control: a small upstream ORF is the switch that controls structural remodeling of an mRNA leader. Cell 113, 519-531 (2003).
38. Cencig, S. et al. Mapping and characterization of the minimal internal ribosome entry segment in the human c-myc mRNA 5untranslated region. Oncogene 23, 267-277 (2004).
39. Gerbasi, V. R., Link, A. J. The myotonic dystrophy type 2 protein ZNF9 is part of an ITAF complex that promotes cap-independent translation. Mol. Cell. Proteomics 6, 1049-1058 (2007).
40. Pickering, B. M., Mitchell, S. A., Spriggs, K. A., Stoneley, M., Willis, A. E. Bag-1 internal ribosome entry segment activity is promoted by structural changes mediated by poly(rC) binding protein 1 and recruitment of polypyrimidine tract binding protein 1. Mol. Cell. Biol. 24, 5595-5605 (2004).
41. Campbell, K. P. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 80, 675-679 (1995).
42. Bloch, R. J., Gonzalez-Serratos, H. Lateral force transmission across costameres in skeletal muscle. Exerc. Sport Sci. Rev. 31, 73-78 (2003).
43. Stradal, T., Kranewitter, W., Winder, S. J., Gimona, M. CH domains revisited. FEBS Lett. 431, 134-137 (1998).
44. Gimona, M., Winder, S. J. Single calponin homology domains are not actin-binding domains. Curr. Biol. 8, R674-R675 (1998).
45. Norwood, F. L., Sutherland-Smith, A. J., Keep, N. H., Kendrick-Jones, J. The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy. Structure 8, 481-491 (2000).
46. Sutherland-Smith, A. J. et al. An atomic model for actin binding by the CH domains and spectrin-repeat modules of utrophin and dystrophin. J. Mol. Biol. 329, 15-33 (2003).
47. Rybakova, I. N., Humston, J. L., Sonnemann, K. J., Ervasti, J. M. Dystrophin and utrophin bind actin through distinct modes of contact. J. Biol. Chem. 281, 9996-10001 (2006).
48. Lin, A. Y. et al. Impacts of dystrophin and utrophin domains on actin structural dynamics: implications for therapeutic design. J. Mol. Biol. 420, 87-98 (2012).
49. Henderson, D. M., Lin, A. Y., Thomas, D. D., Ervasti, J. M. The carboxy-terminal third of dystrophin enhances actin binding activity. J. Mol. Biol. 416, 414-424 (2012).
50. Corrado, K. et al. Transgenic mdx mice expressing dystrophin with a deletion in the actin-binding domain display a "mild Becker" phenotype. J. Cell Biol. 134, 873-884 (1996).
51. Le Rumeur, E., Winder, S. J., Hubert, J. F. Dystrophin: more than just the sum of its parts. Biochim. Biophys. Acta 1804, 1713-1722 (2010).
52. Bhosle, R. C., Michele, D. E., Campbell, K. P., Li, Z., Robson, R. M. Interactions of intermediate filament protein synemin with dystrophin and utrophin. Biochem. Biophys. Res. Commun. 346, 768-777 (2006).
53. Rezniczek, G. A. et al. Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with-dystroglycan. J. Cell Biol. 176, 965-977 (2007).
54. Prins, K. W. et al. Dystrophin is a microtubule-associated protein. J. Cell Biol. 186, 363-369 (2009).
55. Beggs, A. H. et al. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am. J. Hum. Genet. 49, 54-67 (1991).
56. Winnard, A. V. et al. Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy. Hum. Mol. Genet. 2, 737-744 (1993).
57. Winnard, A. V., Mendell, J. R., Prior, T. W., Florence, J., Burghes, A. H. Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am. J. Hum. Genet. 56, 158-166 (1995).
58. Heald, A., Anderson, L. V., Bushby, K. M., Shaw, P. J. Becker muscular dystrophy with onset after 60 years. Neurology 44, 2388-2390 (1994).
59. Johannes, G., Carter, M. S., Eisen, M. B., Brown, P. O., Sarnow, P. Identification of eukaryotic mRNAs that are translated at reduced cap binding complex eIF4F concentrations using a cDNA microarray. Proc. Natl. Acad. Sci. USA 96, 13118-13123 (1999).
60. Goyenvalle, A. et al. Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. Science 306, 1796-1799 (2004).
61. Wein, N. et al. Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Hum. Mutat. 31, 136-142 (2010).
62. Clark, K. R., Liu, X., McGrath, J. P., Johnson, P. R. Highly purified recombinant adeno-associated virus vectors are biologically active and free of detectable helper and wild-type viruses. Hum. Gene Ther. 10, 1031-1039 (1999).
63. Bovolenta, M. et al. A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics 9, 572 (2008).
64. Morris, G. E. et al. An epitope structure for the C-terminal domain of dystrophin and utrophin. Biochemistry 37, 11117-11127 (1998).
65. Spurney, C. F. et al. Preclinical drug trials in the mdx mouse: assessment of reliable and sensitive outcome measures. Muscle Nerve 39, 591-602 (2009).
66. Hakim, C. H., Grange, R. W., Duan, D. The passive mechanical properties of the extensor digitorum longus muscle are compromised in 2-to 20-mo-old mdx mice. J. Appl. Physiol. 110, 1656-1663 (2011).
67. Julesz, B. Spatial nonlinearities in the instantaneous perception of textures with identical power spectra. Phil. Trans. R. Soc. Lond. B 290, 83-94 (1980).
68. Porikli, F. Integral histogram: A fast way to extract histograms in cartesian spaces. Proc. IEEE Comput. Soc. Conf. Comput. Vis. Pattern Recognit. 1, 829-836 (2005).
69. Schmid, C. Constructing models for content-based image retrieval. Proc. IEEE Comput. Soc. Conf. Comput. Vis. Pattern Recognit. 2, II-39-II-45 (2001).
70. Di Zenzo, S. A note on the gradient of a multi-image. Comput. Vis. Graph. Image Process. 33, 116-125 (1986).
71. Gevers, T. Adaptive image segmentation by combining photometric invariant region and edge information. IEEE Trans. Pattern Anal. Mach. Intrll. 24, 848-852 (2002).
72. Sapiro, G., Ringach, D. L. Anisotropic diffusion of multivalued images with applications to color filtering. IEEE Trans. Image Process. 5, 1582-1586 (1996).