The Molecular Basis of Muscular Dystrophy in the mdx Mouse: a Point Mutation
Abstract
The mdx mouse is an X-linked myopathic mutant, an animal model for human Duchenne muscular dystrophy. In both mouse and man the mutations lie within the dystrophin gene, but the phenotypic differences of the disease in the two species confer much interest on the molecular basis of the mdx mutation. The complementary DNA for mouse dystrophin has been cloned, and the sequence has been used in the polymerase chain reaction to amplify normal and mdx dystrophin transcripts in the area of the mdx mutation. Sequence analysis of the amplification products showed that the mdx mouse has a single base substitution within an exon, which causes premature termination of the polypeptide chain.
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The mdx mouse model of DMD shows impairment of memory consolidation in certain behavior tasks.
“The animal model of DMD, the mdx mouse, showed impairment of memory consolidation in certain behavior tasks (Sicinski et al., 1989;Muntoni et al., 1991;Vaillend et al., 1995;Vaillend et al., 2004)”
From The Brain-Enriched MicroRNA miR-9-3p Regulates Synaptic Plasticity and Memory (2016) · cites this paper as Sicinski et al., 1989
Cites
Dystrophin: the protein product of the Duchenne muscular dystrophy locus
Hoffman, E. P., Brown, R. H., & Kunkel, L. M. (1987) · Cell · doi:10.1016/0092-8674(87)90579-4 · Cited by 4,693 · see citing works
X chromosome-linked muscular dystrophy (mdx) in the mouse
Bulfield, G., Siller, W. G., Wight, P. A., & Moore, K. J. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.4.1189 · Cited by 1,765 · see citing works
Localization of the mdx mutation within the mouse dystrophin gene
Ryder‐Cook, A. S., Sicinski, P., Thomas, K., Davies, K. E., Worton, R. G., Barnard, E. A., Darlison, M. G., & Barnard, P. J. (1988) · The EMBO Journal · doi:10.1002/j.1460-2075.1988.tb03165.x · Cited by 139 · see citing works
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Dystrophin protects the sarcolemma from stresses developed during muscle contraction
Petrof, B. J., Shrager, J. B., Stedman, H. H., Kelly, A. M., & Sweeney, H. L. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.8.3710 · Cited by 1,526 · see citing works
Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
Schuelke, M., Wagner, K. R., Stolz, L. E., Hübner, C., Riebel, T., Kömen, W., Braun, T., Tobin, J. F., & Lee, S.-J. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa040933 · Cited by 1,399 · see citing works
Molecular and cellular biology of cholinesterases
Massoulié, J., Pezzementi, L., Bon, S., Krejci, E., & Vallette, F.-M. (1993) · Progress in Neurobiology · doi:10.1016/0301-0082(93)90040-y · Cited by 1,214 · see citing works
In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy
Nelson, C. E., Hakim, C. H., Ousterout, D. G., Thakore, P. I., Moreb, E. A., Rivera, R. M. C., Madhavan, S., Pan, X., Ran, F. A., Yan, W. X., et al. (2016) · Science · doi:10.1126/science.aad5143 · Cited by 1,144 · see citing works
The ACE2/angiotensin-(1-7)/MAS Axis of the renin-angiotensin system: focus on angiotensin-(1-7)
Santos, R. A. S., Sampaio, W. O., Alzamora, A. C., Motta-Santos, D., Alenina, N., Bader, M., & Campagnole-Santos, M. J. (2018) · Physiological Reviews · doi:10.1152/physrev.00023.2016 · Cited by 1,144 · see citing works
In vivo gene editing in dystrophic mouse muscle and muscle stem cells
Tabebordbar, M., Zhu, K., Cheng, J. K. W., Chew, W. L., Widrick, J. J., Yan, W. X., Maesner, C., Wu, E. Y., Xiao, R., Ran, F. A., et al. (2016) · Science · doi:10.1126/science.aad5177 · Cited by 1,046 · see citing works
REGULATION OF MUSCLE MASS BY MYOSTATIN
Lee, S.-J. (2004) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.20.012103.135836 · Cited by 819 · see citing works
Utrophin–dystrophin-deficient mice as a model for Duchenne muscular dystrophy
Deconinck, A. E., Rafael, J. A., Skinner, J. A., Brown, S. C., Potter, A. C., Metzinger, L., Watt, D. J., Dickson, J. G., Tinsley, J. M., & Davies, K. E. (1997) · Cell · doi:10.1016/s0092-8674(00)80532-2 · Cited by 752 · see citing works
Prevention of muscular dystrophy in mice by CRISPR/Cas9–mediated editing of germline DNA
Long, C., McAnally, J. R., Shelton, J. M., Mireault, A. A., Bassel-Duby, R., & Olson, E. N. (2014) · Science · doi:10.1126/science.1254445 · Cited by 720 · see citing works
MyoD is required for myogenic stem cell function in adult skeletal muscle
Megeney, L. A., Kablar, B., Garrett, K., Anderson, J. E., & Rudnicki, M. A. (1996) · Genes & Development · doi:10.1101/gad.10.10.1173 · Cited by 724 · see citing works
Highly Efficient, Functional Engraftment of Skeletal Muscle Stem Cells in Dystrophic Muscles
Cerletti, M., Jurga, S., Witczak, C. A., Hirshman, M. F., Shadrach, J. L., Goodyear, L. J., & Wagers, A. J. (2008) · Cell · doi:10.1016/j.cell.2008.05.049 · Cited by 472 · see citing works
In vivo target gene activation via CRISPR/Cas9-mediated trans-epigenetic modulation
Liao, H.-K., Hatanaka, F., Araoka, T., Reddy, P., Wu, M.-Z., Sui, Y., Yamauchi, T., Sakurai, M., O’Keefe, D. D., Núñez-Delicado, E., et al. (2017) · Cell · doi:10.1016/j.cell.2017.10.025 · Cited by 451 · see citing works
Bengtsson, N. E., Hall, J. K., Odom, G. L., Phelps, M. P., Andrus, C. R., Hawkins, R. D., Hauschka, S. D., Chamberlain, J. R., & Chamberlain, J. S. (2017) · Nature Communications · doi:10.1038/ncomms14454 · Cited by 387 · see citing works
Fiber regeneration is not persistent in dystrophic (MDX) mouse skeletal muscle
DiMario, J. X., Uzman, A., & Strohman, R. C. (1991) · Developmental Biology · doi:10.1016/0012-1606(91)90340-9 · Cited by 206 · see citing works
Galbiati, F., Volonté, D., Chu, J. B., Li, M., Fine, S. W., Fu, M., Bermudez, J., Pedemonte, M., Weidenheim, K. M., Pestell, R. G., et al. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.160249097 · Cited by 155 · see citing works
Bonuccelli, G., Sotgia, F., Schubert, W., Park, D. S., Frank, P. G., Woodman, S. E., Insabato, L., Cammer, M., Minetti, C., & Lisanti, M. P. (2003) · The American Journal of Pathology · doi:10.1016/s0002-9440(10)63523-7 · Cited by 135 · see citing works
The Brain-Enriched MicroRNA miR-9-3p Regulates Synaptic Plasticity and Memory
Sim, S.-E., Lim, C.-S., Kim, J.-I., Seo, D., Chun, H., Yu, N.-K., Lee, J., Kang, S. J., Ko, H.-G., Choi, J.-H., et al. (2016) · The Journal of Neuroscience · doi:10.1523/jneurosci.0630-16.2016 · Cited by 116 · see citing works
Barnabei, M. S., Palpant, N. J., & Metzger, J. M. (2010) · Physiological Genomics · doi:10.1152/physiolgenomics.00071.2010 · Cited by 88 · see citing works
Inhibition of antigen presentation during AAV gene therapy using virus peptides
Shao, W., Chen, X., Samulski, R. J., Hirsch, M. L., & Li, C. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddx427 · Cited by 17 · see citing works
- Authors
- Sicinski, P., Geng, Y., Ryder-Cook, A. S., Barnard, E. A., Darlison, M. G., & Barnard, P. J.
- Affiliations
- Medical Research Council Molecular Neurobiology Unit, MRC Centre, Cambridge CB2 2QH, United Kingdom.
- Venue
- Science
- Published
- 1989-06-30
- Volume
- 244
- Issue
- 4912
- Pages
- 1578-1580
- ISSN
- 0036-8075
- 1095-9203
- Cited by
- 1,086
- References
- 3
- Language
- en
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