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Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
Open accessAbstract
SUMMARY Exome sequencing is an effective strategy for identifying human disease genes. However, this methodology is difficult in late-onset diseases where limited availability of DNA from informative family members prohibits comprehensive segregation analysis. To overcome this limitation, we performed an exome-wide rare variant burden analysis of 363 index cases with familial ALS (FALS). The results revealed an excess of patient variants within TUBA4A, the gene encoding the Tubulin, Alpha 4A protein. Analysis of a further 272 FALS cases and 5,510 internal controls confirmed the overrepresentation as statistically significant and replicable. Functional analyses revealed that TUBA4A mutants destabilize the microtubule network, diminishing its repolymerization capability. These results further emphasize the role of cytoskeletal defects in ALS and demonstrate the power of gene-based rare variant analyses in situations where causal genes cannot be identified through traditional segregation analysis.
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In vivo destabilization of dynamic microtubules by HDAC6‐mediated deacetylation
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Self-citationEffects of tubulin acetylation and tubulin acetyltransferase binding on microtubule structure
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Cited by
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science · doi:10.1126/science.aaa3650 · Cited by 966
Self-citationStress granules and neurodegeneration
Wolozin, B., & Ivanov, P. (2019) · Nature Reviews Neuroscience · doi:10.1038/s41583-019-0222-5 · Cited by 810
ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair
Klim, J. R., Williams, L. A., Limone, F., Guerra San Juan, I., Davis-Dusenbery, B. N., Mordes, D. A., Burberry, A., Steinbaugh, M. J., Gamage, K. K., Kirchner, R., et al. (2019) · Nature Neuroscience · doi:10.1038/s41593-018-0300-4 · Cited by 653
TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets
Scotter, E. L., Chen, H.-J., & Shaw, C. E. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0338-x · Cited by 382
Self-citationGene discovery in amyotrophic lateral sclerosis: implications for clinical management
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Metadata
- Authors
- Smith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S., Kenna, K. P., Scotter, E. L., Kost, J., Keagle, P., Miller, J. W., Calini, D., Vance, C., Danielson, E. W., Troakes, C., Tiloca, C., Al-Sarraj, S., Lewis, E. A., King, A., Colombrita, C., Pensato, V., Castellotti, B., de Belleroche, J., Baas, F., ten Asbroek, A. L., Sapp, P. C., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Muñoz-Blanco, J. L., Simpson, M., van Rheenen, W., Diekstra, F. P., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Morrison, K. E., Williams, K. L., Nicholson, G. A., Blair, I. P., Dion, P. A., Leblond, C. S., Rouleau, G. A., Hardiman, O., Veldink, J. H., van den Berg, L. H., Al-Chalabi, A., Pall, H., Shaw, P. J., Turner, M. R., Talbot, K., Taroni, F., García-Redondo, A., Wu, Z., Glass, J. D., Gellera, C., Ratti, A., Brown, R. H., Silani, V., Shaw, C. E., Landers, J. E., D’Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., & Bertolin, C.
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2014-10
- Volume
- 84
- Issue
- 2
- Pages
- 324-331
- ISSN
- 0896-6273 (ISSN-L)
- OpenAlex
- W1973912326
- Cited by
- 367
- References
- 6
- FWCI
- 21.92
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Smith, B. N., Ticozzi, N., Fallini, C., Gkazi, A. S., Topp, S., Kenna, K. P., Scotter, E. L., Kost, J., Keagle, P., Miller, J. W., Calini, D., Vance, C., Danielson, E. W., Troakes, C., Tiloca, C., Al-Sarraj, S., Lewis, E. A., King, A., Colombrita, C., . . . Bertolin, C. (2014). Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS. Neuron. https://doi.org/10.1016/j.neuron.2014.09.027
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