Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
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 ex...
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| Published in | Neuron (Cambridge, Mass.) Vol. 84; no. 2; pp. 324 - 331 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
22.10.2014
Elsevier Limited |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0896-6273 1097-4199 1097-4199 |
| DOI | 10.1016/j.neuron.2014.09.027 |
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| Abstract | 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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•Mutations in tubulin, alpha 4A (TUBA4A) are associated with familial ALS•TUBA4A mutants act as dominant negatives to alter microtubule dynamics and stability•Results provide further evidence supporting a role of cytoskeletal defects in ALS•Rare variant analysis of index familial cases can identify human disease genes
Smith et al. show that alterations in the Tubulin, Alpha 4A gene, which encodes a cytoskeletal protein, contribute to the pathogenesis of familial ALS. This Report provides further evidence supporting a major role of cytoskeletal defects in ALS. |
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| AbstractList | 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. Video Abstract 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. 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. [Display omitted] •Mutations in tubulin, alpha 4A (TUBA4A) are associated with familial ALS•TUBA4A mutants act as dominant negatives to alter microtubule dynamics and stability•Results provide further evidence supporting a role of cytoskeletal defects in ALS•Rare variant analysis of index familial cases can identify human disease genes Smith et al. show that alterations in the Tubulin, Alpha 4A gene, which encodes a cytoskeletal protein, contribute to the pathogenesis of familial ALS. This Report provides further evidence supporting a major role of cytoskeletal defects in ALS. 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.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. 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. 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 withinTUBA4A, 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. Video Abstract |
| Author | Shaw, Pamela J. Veldink, Jan H. Fallini, Claudia Querin, Giorgia Wu, Zheyang Sorarù, Gianni Ratti, Antonia Smith, Bradley N. Calini, Daniela Blair, Ian P. Sapp, Peter C. Corrado, Lucia Turner, Martin R. Baas, Frank Corti, Stefania Al-Sarraj, Safa Lauria, Giuseppe Del Bo, Roberto Talbot, Kevin Morrison, Karen E. Vance, Caroline Gagliardi, Stella Bertolin, Cinzia Diekstra, Frank P. Keagle, Pamela Muñoz-Blanco, José Luis Tiloca, Cinzia King, Andrew Pall, Hardev Landers, John E. Gkazi, Athina Soragia McLaughlin, Russell L. Mazzini, Letizia Ticozzi, Nicola Ceroni, Mauro Leblond, Claire S. van Rheenen, Wouter Williams, Kelly L. Danielson, Eric W. García-Redondo, Alberto Scotter, Emma L. Comi, Giacomo P. Castellotti, Barbara ten Asbroek, Anneloor LMA Nicholson, Garth A. Al-Chalabi, Ammar Taroni, Franco Gellera, Cinzia Lewis, Elizabeth A. McKenna-Yasek, Diane Simpson, Michael Polak, Meraida Dion, Patrick A. Asress, Seneshaw Rouleau, Guy A. Troakes, Claire Cereda, Cristina Topp, Simon Brown, Robert H. Colombrita, Claudia Shaw, Christopher E. Pensato, Viv |
| AuthorAffiliation | 3 Department of Pathophysiology and Transplantation, ‘Dino Ferrari’ Center - Università degli Studi di Milano, 20122 Milan, Italy 6 Department of Bioinformatics and Computational Biology, Worcester Polytechnic Institute, Worcester, MA 01609, USA 7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, 20133 Milan, Italy 16 Department of Medical Biotechnology and Translational Medicine - Università degli Studi di Milano, 20133 Milan, Italy 12 Unidad de ELA, Instituto de Investigación Hospital Gregorio Marañón de Madrid, SERMAS, 28007 Madrid, Spain 9 Department of Genome analysis and Neurogenetics, Academic Medical Centre, Amsterdam, The Netherlands 21 School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK 18 Experimental Neurobiology Laboratory, IRCCS ‘C. Mondino’ National Neurological Institute, 27100 Pavia, Italy 25 Montreal Neurological Institute, Depar |
| AuthorAffiliation_xml | – name: 9 Department of Genome analysis and Neurogenetics, Academic Medical Centre, Amsterdam, The Netherlands – name: 17 Neurology Unit, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy – name: 3 Department of Pathophysiology and Transplantation, ‘Dino Ferrari’ Center - Università degli Studi di Milano, 20122 Milan, Italy – name: 13 Department of Genetics and Molecular Medicine, King’s College London, Tower Wing, Guy’s Hospital, London, SE1 7EH, UK – name: 15 3rd Neurology Unit, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, 20133 Milan, Italy – name: 20 Department of Neurosciences, University of Padova, 35122 Padova, Italy – name: 8 Neurogenetics Group, Division of Brain Sciences, Imperial College London, Hammersmith Hospital Campus, Burlington Danes Building, Du Cane Road, London, W12 0NN, UK – name: 11 Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), 28041 Madrid, Spain – name: 14 Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3508 GA Utrecht, the Netherlands – name: 4 Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA – name: 26 Department of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, WC2R 2LS, UK – name: 12 Unidad de ELA, Instituto de Investigación Hospital Gregorio Marañón de Madrid, SERMAS, 28007 Madrid, Spain – name: 7 Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, 20133 Milan, Italy – name: 6 Department of Bioinformatics and Computational Biology, Worcester Polytechnic Institute, Worcester, MA 01609, USA – name: 25 Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, 3801 Montreal, QC H3A 2B4, Canada – name: 24 Northcott Neuroscience Laboratory, University of Sydney, ANZAC Research Institute, Sydney, NSW 2139, Australia – name: 21 School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK – name: 16 Department of Medical Biotechnology and Translational Medicine - Università degli Studi di Milano, 20133 Milan, Italy – name: 18 Experimental Neurobiology Laboratory, IRCCS ‘C. Mondino’ National Neurological Institute, 27100 Pavia, Italy – name: 27 Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, S10 2HQ, UK – name: 23 Australian School of Advanced Medicine, Macquarie University, Sydney, NSW 2109, Australia – name: 28 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK – name: 2 Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy – name: 10 Department of Neurology, Emory University, Atlanta, GA 30322, USA – name: 5 Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin 2, Republic of Ireland – name: 1 Centre for Neurodegeneration Research, King’s College London, Department of Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK – name: 19 Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), “A. Avogadro” University, 28100 Novara, Italy – name: 22 Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, B15 2WB, UK |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/25374358$$D View this record in MEDLINE/PubMed |
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| SubjectTerms | Amyotrophic Lateral Sclerosis - genetics Brain - metabolism Brain - pathology Disease Exome - genetics Genes Genetic Predisposition to Disease Humans Mutation Mutation - genetics Neurons - metabolism Pathogenesis Sequence Analysis, DNA Tubulin - genetics Tubulin - metabolism |
| Title | Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS |
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