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RNA and Disease
Open accessAbstract
Cellular functions depend on numerous protein-coding and non-coding RNAs and the RNA-binding proteins associated with them, which form ribonucleoprotein complexes (RNPs). Mutations that disrupt either the RNA or protein components of RNPs or the factors required for their assembly can be deleterious. Alternative splicing provides cells with an exquisite capacity to fine-tune their transcriptome and proteome in response to cues. Splicing depends on a complex code, numerous RNA-binding proteins and an enormously intricate network of interactions among them, increasing the opportunity for exposure to mutations and mis-regulation that cause disease. The discovery of disease-causing mutations in RNAs is yielding a wealth of new therapeutic targets, and the growing understanding of RNA biology and chemistry is providing new RNA-based tools for developing therapeutics.
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Citations
Cites
Alternative isoform regulation in human tissue transcriptomes
Wang, E. T., Sandberg, R., Luo, S., Khrebtukova, I., Zhang, L., Mayr, C., Kingsmore, S. F., Schroth, G. P., & Burge, C. B. (2008) · Nature · doi:10.1038/nature07509 · Cited by 5,181
Pan, Q., Shai, O., Lee, L. J., Frey, B. J., & Blencowe, B. J. (2008) · Nature Genetics · doi:10.1038/ng.259 · Cited by 3,951
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J. C., Williams, K. L., Buratti, E., et al. (2008) · Science · doi:10.1126/science.1154584 · Cited by 2,630
Listening to silence and understanding nonsense: exonic mutations that affect splicing
Cartegni, L., Chew, S. L., & Krainer, A. R. (2002) · Nature Reviews Genetics · doi:10.1038/nrg775 · Cited by 2,209
Control of translation and mRNA degradation by miRNAs and siRNAs: Table 1.
Valencia-Sanchez, M. A., Liu, J., Hannon, G. J., & Parker, R. (2006) · Genes & Development · doi:10.1101/gad.1399806 · Cited by 2,060
HITS-CLIP yields genome-wide insights into brain alternative RNA processing
Licatalosi, D. D., Mele, A., Fak, J. J., Ule, J., Kayikci, M., Chi, S. W., Clark, T. A., Schweitzer, A. C., Blume, J. E., Wang, X., et al. (2008) · Nature · doi:10.1038/nature07488 · Cited by 1,352 · cited 1×
“Both Nova and Fox proteins are likely to have other RNA processing roles, such as regulating alternative polyadenylation site selection (Licatalosi et al., 2008).”
Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics
Maquat, L. E. (2004) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1310 · Cited by 1,214
Lim, J., Hao, T., Shaw, C., Patel, A. J., Szabó, G., Rual, J.-F., Fisk, C. J., Li, N., Smolyar, A., Hill, D. E., et al. (2006) · Cell · doi:10.1016/j.cell.2006.03.032 · Cited by 789
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
Lin, X., Miller, J. W., Mankodi, A., Kanadia, R. N., Yuan, Y., Moxley, R. T., Swanson, M. S., & Thornton, C. A. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl132 · Cited by 510 · cited 4×
“In one of two pathogenic effects of the RNA, MBNL1 colocalizes with the RNA foci and is depleted from the nucleoplasm more than 2-fold, resulting in aberrant regulation of MBNL1-sensitive splicing events (Figure 3B) (Lin et al., 2006).”
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Jaganathan, K., Kyriazopoulou Panagiotopoulou, S., McRae, J. F., Darbandi, S. F., Knowles, D., Li, Y. I., Kosmicki, J. A., Arbelaez, J., Cui, W., Schwartz, G. B., et al. (2019) · Cell · doi:10.1016/j.cell.2018.12.015 · Cited by 2,853
Shen, S., Park, J. W., Lu, Z.-X., Lin, L., Henry, M. D., Wu, Y. N., Zhou, Q., & Xing, Y. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1419161111 · Cited by 2,713
Insights into RNA Biology from an Atlas of Mammalian mRNA-Binding Proteins
Castello, A., Fischer, B., Eichelbaum, K., Horos, R., Beckmann, B. M., Strein, C., Davey, N. E., Humphreys, D. T., Preiss, T., Steinmetz, L. M., et al. (2012) · Cell · doi:10.1016/j.cell.2012.04.031 · Cited by 2,132
A census of human RNA-binding proteins
Gerstberger, S., Hafner, M., & Tuschl, T. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3813 · Cited by 2,032
Analysis and design of RNA sequencing experiments for identifying isoform regulation
Katz, Y., Wang, E. T., Airoldi, E. M., & Burge, C. B. (2010) · Nature Methods · doi:10.1038/nmeth.1528 · Cited by 1,353
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
Polymenidou, M., Lagier-Tourenne, C., Hutt, K. R., Huelga, S. C., Moran, J., Liang, T. Y., Ling, S.-C., Sun, E., Wancewicz, E., Mazur, C., et al. (2011) · Nature Neuroscience · doi:10.1038/nn.2779 · Cited by 1,335
Mechanisms and Regulation of Alternative Pre-mRNA Splicing
Lee, Y., & Rio, D. C. (2015) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060614-034316 · Cited by 1,291
Context-dependent control of alternative splicing by RNA-binding proteins
Fu, X.-D., & Ares, M. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3778 · Cited by 1,044
Function of alternative splicing
Kelemen, O., Convertini, P., Zhang, Z., Wen, Y., Shen, M., Falaleeva, M., & Stamm, S. (2013) · Gene · doi:10.1016/j.gene.2012.07.083 · Cited by 743
Mechanisms and Consequences of Alternative Polyadenylation
Di Giammartino, D. C., Nishida, K., & Manley, J. L. (2011) · Molecular Cell · doi:10.1016/j.molcel.2011.08.017 · Cited by 737
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
Guo, W., Schafer, S., Greaser, M. L., Radke, M. H., Liss, M., Govindarajan, T., Maatz, H., Schulz, H., Li, S., Parrish, A. M., et al. (2012) · Nature Medicine · doi:10.1038/nm.2693 · Cited by 589
A new view of transcriptome complexity and regulation through the lens of local splicing variations
Vaquero-Garcia, J., Barrera, A., Gazzara, M. R., González-Vallinas, J., Lahens, N. F., Hogenesch, J. B., Lynch, K. W., & Barash, Y. (2016) · eLife · doi:10.7554/elife.11752 · Cited by 488
Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins
Wang, E. T., Cody, N. A. L., Jog, S., Biancolella, M., Wang, T. T., Treacy, D. J., Luo, S., Schroth, G. P., Housman, D. E., Reddy, S., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.041 · Cited by 490
Eizirik, D. L., Sammeth, M., Bouckenooghe, T., Bottu, G., Sisino, G., Igoillo-Esteve, M., Ortis, F., Santin, I., Colli, M. L., Barthson, J., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002552 · Cited by 465
HITS-CLIP: panoramic views of protein-RNA regulation in living cells
Darnell, R. B. (2010) · WIREs RNA · doi:10.1002/wrna.31 · Cited by 382
Antisense Oligonucleotide Therapies for Neurodegenerative Diseases
Bennett, C. F., Krainer, A. R., & Cleveland, D. W. (2019) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-070918-050501 · Cited by 353
RNA targets of wild-type and mutant FET family proteins
Hoell, J. I., Larsson, E., Runge, S., Nusbaum, J. D., Duggimpudi, S., Farazi, T. A., Hafner, M., Borkhardt, A., Sander, C., & Tuschl, T. (2011) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2163 · Cited by 350
Targeting an RNA-Binding Protein Network in Acute Myeloid Leukemia
Wang, E., Lu, S. X., Pastore, A., Chen, X., Imig, J., Chun-Wei Lee, S., Hockemeyer, K., Ghebrechristos, Y. E., Yoshimi, A., Inoue, D., et al. (2019) · Cancer Cell · doi:10.1016/j.ccell.2019.01.010 · Cited by 338
Amit, M., Donyo, M., Hollander, D., Goren, A., Kim, E., Gelfman, S., Lev-Maor, G., Burstein, D., Schwartz, S., Postolsky, B., et al. (2012) · Cell Reports · doi:10.1016/j.celrep.2012.03.013 · Cited by 338
Smedley, D., Schubach, M., Jacobsen, J. O. B., Köhler, S., Zemojtel, T., Spielmann, M., Jäger, M., Hochheiser, H., Washington, N. L., McMurry, J. A., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.07.005 · Cited by 283
Sato, N., Amino, T., Kobayashi, K., Asakawa, S., Ishiguro, T., Tsunemi, T., Takahashi, M., Matsuura, T., Flanigan, K. M., Iwasaki, S., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.019 · Cited by 302
Rodriguez-Meira, A., Buck, G., Clark, S.-A., Povinelli, B. J., Alcolea, V., Louka, E., McGowan, S., Hamblin, A., Sousos, N., Barkas, N., et al. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.01.009 · Cited by 305
Integrative Modeling Defines the Nova Splicing-Regulatory Network and Its Combinatorial Controls
Zhang, C., Frias, M. A., Mele, A., Ruggiu, M., Eom, T., Marney, C. B., Wang, H., Licatalosi, D. D., Fak, J. J., & Darnell, R. B. (2010) · Science · doi:10.1126/science.1191150 · Cited by 294
The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function
Gehman, L. T., Meera, P., Stoilov, P., Shiue, L., O'Brien, J. E., Meisler, M. H., Ares, M., Otis, T. S., & Black, D. L. (2012) · Genes & Development · doi:10.1101/gad.182477.111 · Cited by 213
Hsieh, Y.-C., Guo, C., Yalamanchili, H. K., Abreha, M., Al-Ouran, R., Li, Y., Dammer, E. B., Lah, J. J., Levey, A. I., Bennett, D. A., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.08.104 · Cited by 196
Licatalosi, D. D., Yano, M., Fak, J. J., Mele, A., Grabinski, S. E., Zhang, C., & Darnell, R. B. (2012) · Genes & Development · doi:10.1101/gad.191338.112 · Cited by 193
Nova2 Regulates Neuronal Migration through an RNA Switch in Disabled-1 Signaling
Yano, M., Hayakawa-Yano, Y., Mele, A., & Darnell, R. B. (2010) · Neuron · doi:10.1016/j.neuron.2010.05.007 · Cited by 176
RNA Protein Interaction in Neurons
Darnell, R. B. (2013) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-062912-114322 · Cited by 181
Alternative splicing: decoding an expansive regulatory layer
Irimia, M., & Blencowe, B. J. (2012) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2012.03.005 · Cited by 177
Live-Cell Visualization of Pre-mRNA Splicing with Single-Molecule Sensitivity
Martin, R. M., Rino, J., Carvalho, C., Kirchhausen, T., & Carmo-Fonseca, M. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.08.013 · Cited by 173
Antisense oligonucleotides: treating neurodegeneration at the level of RNA
DeVos, S. L., & Miller, T. M. (2013) · Neurotherapeutics · doi:10.1007/s13311-013-0194-5 · Cited by 164
Splicing factor mutations and cancer
Yoshida, K., & Ogawa, S. (2014) · WIREs RNA · doi:10.1002/wrna.1222 · Cited by 155
In silico tools for splicing defect prediction: a survey from the viewpoint of end users
Jian, X., Boerwinkle, E., & Liu, X. (2014) · Genetics in Medicine · doi:10.1038/gim.2013.176 · Cited by 146
Wei, W.-J., Mu, S.-R., Heiner, M., Fu, X., Cao, L.-J., Gong, X.-F., Bindereif, A., & Hui, J. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks579 · Cited by 124
OLego: fast and sensitive mapping of spliced mRNA-Seq reads using small seeds
Wu, J., Anczuków, O., Krainer, A. R., Zhang, M. Q., & Zhang, C. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt216 · Cited by 123
Building Robust Transcriptomes with Master Splicing Factors
Jangi, M., & Sharp, P. A. (2014) · Cell · doi:10.1016/j.cell.2014.09.054 · Cited by 141
MicroRNAs coordinate an alternative splicing network during mouse postnatal heart development
Kalsotra, A., Wang, K., Li, P.-F., & Cooper, T. A. (2010) · Genes & Development · doi:10.1101/gad.1894310 · Cited by 129
Self-citationBronicki, L. M., & Jasmin, B. J. (2013) · RNA · doi:10.1261/rna.039164.113 · Cited by 126
NOVA-dependent regulation of cryptic NMD exons controls synaptic protein levels after seizure
Eom, T., Zhang, C., Wang, H., Lay, K., Fak, J., Noebels, J. L., & Darnell, R. B. (2013) · eLife · doi:10.7554/elife.00178 · Cited by 118
RNA-binding proteins in neurodegeneration: Seq and you shall receive
Nussbacher, J. K., Batra, R., Lagier-Tourenne, C., & Yeo, G. W. (2015) · Trends in Neurosciences · doi:10.1016/j.tins.2015.02.003 · Cited by 115
Mutation of a U2 snRNA Gene Causes Global Disruption of Alternative Splicing and Neurodegeneration
Jia, Y., Mu, J. C., & Ackerman, S. L. (2012) · Cell · doi:10.1016/j.cell.2011.11.057 · Cited by 114
Mittal, N., Roy, N., Babu, M. M., & Janga, S. C. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906940106 · Cited by 103
SFmap: a web server for motif analysis and prediction of splicing factor binding sites
Paz, I., Akerman, M., Dror, I., Kosti, I., & Mandel-Gutfreund, Y. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq444 · Cited by 102
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Poulos, M. G., Batra, R., Charizanis, K., & Swanson, M. S. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a000778 · Cited by 98
Calarco, J. A., Zhen, M., & Blencowe, B. J. (2011) · RNA · doi:10.1261/rna.2603911 · Cited by 72
Higa, M., Oka, M., Fujihara, Y., Masuda, K., Yoneda, Y., & Kishimoto, T. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1719921115 · Cited by 61
Nithin, C., Ghosh, P., & Bujnicki, J. M. (2018) · Genes · doi:10.3390/genes9090432 · Cited by 48
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Rahman, M. A., Masuda, A., Ohe, K., Ito, M., Hutchinson, D. O., Mayeda, A., Engel, A. G., & Ohno, K. (2013) · Scientific Reports · doi:10.1038/srep02931 · Cited by 44
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Lee, J., Villarreal, O. D., Chen, X., Zandee, S., Young, Y. K., Torok, C., Lamarche-Vane, N., Prat, A., Rivest, S., Gosselin, D., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.108560 · Cited by 38
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Huang, J., Yao, L., Xu, R., Wu, H., Wang, M., White, B. S., Shalloway, D., & Zheng, X. (2011) · The EMBO Journal · doi:10.1038/emboj.2011.212 · Cited by 27
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Ward, L. D., & Kellis, M. (2012) · Nature Biotechnology · doi:10.1038/nbt.2422 · Cited by 6
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Lindsey, G. L., Hockley, T. K., Gomez, A. V., Marshall, A. C., Brothers, W. R., Finney, C. T., Gross, J., Fox, A. H., Yeo, G. W., Melillo, B., et al. (2026) · Cell Chemical Biology · doi:10.1016/j.chembiol.2025.12.010 · Cited by 6
Metadata
- Authors
- Cooper, T. A., Wan, L., & Dreyfuss, G.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2009-02
- Volume
- 136
- Issue
- 4
- Pages
- 777-793
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2113525941
- Cited by
- 1,159
- References
- 18
- FWCI
- 36.37
- Type
- journal article
- Language
- en
- Open access
- bronze
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