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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Open accessAbstract
The genetic causes of malformations of cortical development (MCD) remain largely unknown. Here we report the discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD. We found a frequent recurrence of mutations in DYNC1H1, implying that this gene is a major locus for unexplained MCD. We further show that the mutations in KIF5C, KIF2A and DYNC1H1 affect ATP hydrolysis, productive protein folding and microtubule binding, respectively. In addition, we show that suppression of mouse Tubg1 expression in vivo interferes with proper neuronal migration, whereas expression of altered γ-tubulin proteins in Saccharomyces cerevisiae disrupts normal microtubule behavior. Our data reinforce the importance of centrosomal and microtubule-related proteins in cortical development and strongly suggest that microtubule-dependent mitotic and postmitotic processes are major contributors to the pathogenesis of MCD.
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Cites
The Sequence Alignment/Map format and SAMtools
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp352 · Cited by 62,041
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R., Garimella, K. V., Maguire, J. R., Hartl, C., Philippakis, A. A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,456
[6] Use of T7 RNA polymerase to direct expression of cloned genes
William Studier, F., Rosenberg, A. H., Dunn, J. J., & Dubendorff, J. W. (1990) · Methods in Enzymology · doi:10.1016/0076-6879(90)85008-c · Cited by 6,562
Kumar, P., Henikoff, S., & Ng, P. C. (2009) · Nature Protocols · doi:10.1038/nprot.2009.86 · Cited by 6,521
Human non-synonymous SNPs: server and survey
Ramensky, V. (2002) · Nucleic Acids Research · doi:10.1093/nar/gkf493 · Cited by 2,280
Microtubule Assembly in the Absence of Added Nucleotides
Shelanski, M. L., Gaskin, F., & Cantor, C. R. (1973) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.70.3.765 · Cited by 2,053
Kinesin superfamily motor proteins and intracellular transport
Hirokawa, N., Noda, Y., Tanaka, Y., & Niwa, S. (2009) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2774 · Cited by 1,859
Microtubule nucleation by γ-tubulin complexes
Kollman, J. M., Merdes, A., Mourey, L., & Agard, D. A. (2011) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3209 · Cited by 1,583
Diagnostic exome sequencing in persons with severe intellectual disability
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546
A developmental and genetic classification for malformations of cortical development: update 2012
Barkovich, A. J., Guerrini, R., Kuzniecky, R. I., Jackson, G. D., & Dobyns, W. B. (2012) · Brain · doi:10.1093/brain/aws019 · Cited by 1,104
Self-citationA de novo paradigm for mental retardation.
Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., et al. (2010) · Nature Genetics · doi:10.1038/ng.712 · Cited by 852
De novo mutations in human genetic disease
Veltman, J. A., & Brunner, H. G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3241 · Cited by 843
Flicek, P., Amode, M. R., Barrell, D., Beal, K., Brent, S., Carvalho-Silva, D., Clapham, P., Coates, G., Fairley, S., Fitzgerald, S., et al. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr991 · Cited by 823
Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport
Hafezparast, M., Klocke, R., Ruhrberg, C., Marquardt, A., Ahmad-Annuar, A., Bowen, S., Lalli, G., Witherden, A. S., Hummerich, H., Nicholson, S., et al. (2003) · Science · doi:10.1126/science.1083129 · Cited by 684
Numbers, time and neocortical neuronogenesis: a general developmental and evolutionary model
Caviness, V. S., Takahashi, T., & Nowakowski, R. S. (1995) · Trends in Neurosciences · doi:10.1016/0166-2236(95)93933-o · Cited by 567
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilgüvar, K., Öztürk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatlı, B., Yalnızoğlu, D., Tüysüz, B., Çağlayan, A. O., Gökben, S., et al. (2010) · Nature · doi:10.1038/nature09327 · Cited by 503
A cytoplasmic chaperonin that catalyzes β-actin folding
Gao, Y., Thomas, J. O., Chow, R. L., Lee, G.-H., & Cowan, N. J. (1992) · Cell · doi:10.1016/0092-8674(92)90622-j · Cited by 490
Self-citationMutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans
Keays, D. A., Tian, G., Poirier, K., Huang, G.-J., Siebold, C., Cleak, J., Oliver, P. L., Fray, M., Harvey, R. J., Molnár, Z., et al. (2007) · Cell · doi:10.1016/j.cell.2006.12.017 · Cited by 454
Self-citationMutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria
Jaglin, X. H., Poirier, K., Saillour, Y., Buhler, E., Tian, G., Bahi-Buisson, N., Fallet-Bianco, C., Phan-Dinh-Tuy, F., Kong, X. P., Bomont, P., et al. (2009) · Nature Genetics · doi:10.1038/ng.380 · Cited by 380
Self-citationGolgi Vesiculation and Lysosome Dispersion in Cells Lacking Cytoplasmic Dynein
Harada, A., Takei, Y., Kanai, Y., Tanaka, Y., Nonaka, S., & Hirokawa, N. (1998) · The Journal of Cell Biology · doi:10.1083/jcb.141.1.51 · Cited by 370
Shu, T., Ayala, R., Nguyen, M.-D., Xie, Z., Gleeson, J. G., & Tsai, L.-H. (2004) · Neuron · doi:10.1016/j.neuron.2004.09.030 · Cited by 361
KIF5C, a Novel Neuronal Kinesin Enriched in Motor Neurons
Kanai, Y., Okada, Y., Tanaka, Y., Harada, A., Terada, S., & Hirokawa, N. (2000) · The Journal of Neuroscience · doi:10.1523/jneurosci.20-17-06374.2000 · Cited by 334
Li, Y., Vinckenbosch, N., Tian, G., Huerta-Sanchez, E., Jiang, T., Jiang, H., Albrechtsen, A., Andersen, G., Cao, H., Korneliussen, T., et al. (2010) · Nature Genetics · doi:10.1038/ng.680 · Cited by 308
Self-citationCortical development: View from neurological mutants two decades later
Rakic, P., & Caviness, V. S. (1995) · Neuron · doi:10.1016/0896-6273(95)90258-9 · Cited by 287
Weedon, M. N., Hastings, R., Caswell, R., Xie, W., Paszkiewicz, K., Antoniadi, T., Williams, M., King, C., Greenhalgh, L., Newbury-Ecob, R., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.07.002 · Cited by 283
Kinesin Superfamily Protein 2A (KIF2A) Functions in Suppression of Collateral Branch Extension
Homma, N., Takei, Y., Tanaka, Y., Nakata, T., Terada, S., Kikkawa, M., Noda, Y., & Hirokawa, N. (2003) · Cell · doi:10.1016/s0092-8674(03)00522-1 · Cited by 281
Poirier, K., Saillour, Y., Bahi-Buisson, N., Jaglin, X. H., Fallet-Bianco, C., Nabbout, R., Castelnau-Ptakhine, L., Roubertie, A., Attie-Bitach, T., Desguerre, I., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq377 · Cited by 271
Self-citationStructure and Functional Role of Dynein's Microtubule-Binding Domain
Carter, A. P., Garbarino, J. E., Wilson-Kubalek, E. M., Shipley, W. E., Cho, C., Milligan, R. A., Vale, R. D., & Gibbons, I. R. (2008) · Science · doi:10.1126/science.1164424 · Cited by 248
Poirier, K., Keays, D. A., Francis, F., Saillour, Y., Bahi, N., Manouvrier, S., Fallet-Bianco, C., Pasquier, L., Toutain, A., Tuy, F. P. D., et al. (2007) · Human Mutation · doi:10.1002/humu.20572 · Cited by 246
Self-citationDifferential trafficking of Kif5c on tyrosinated and detyrosinated microtubules in live cells
Dunn, S., Morrison, E. E., Liverpool, T. B., Molina-París, C., Cross, R. A., Alonso, M. C., & Peckham, M. (2008) · Journal of Cell Science · doi:10.1242/jcs.026492 · Cited by 242
Guerrini, R., Dobyns, W. B., & Barkovich, A. J. (2008) · Trends in Neurosciences · doi:10.1016/j.tins.2007.12.004 · Cited by 241
Self-citationNakata, T., & Hirokawa, N. (1995) · The Journal of cell biology · doi:10.1083/jcb.131.4.1039 · Cited by 235
Tischfield, M. A., Cederquist, G. Y., Gupta, M. L., & Engle, E. C. (2011) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2011.01.003 · Cited by 222
The centrosome in neuronal development
Higginbotham, H. R., & Gleeson, J. G. (2007) · Trends in Neurosciences · doi:10.1016/j.tins.2007.04.001 · Cited by 217
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
Harms, M. B., Ori-McKenney, K. M., Scoto, M., Tuck, E. P., Bell, S., Ma, D., Masi, S., Allred, P., Al-Lozi, M., Reilly, M. M., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e3182556c05 · Cited by 217
Somatic gene mutation and human disease other than cancer: An update
Erickson, R. P. (2010) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2010.04.002 · Cited by 212
Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2013) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000428160.59063.a6 · Cited by 204
Ostergaard, P., Simpson, M. A., Mendola, A., Vasudevan, P., Connell, F. C., van Impel, A., Moore, A. T., Loeys, B. L., Ghalamkarpour, A., Onoufriadis, A., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.018 · Cited by 203
Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
Breuss, M., Heng, J. I.-T., Poirier, K., Tian, G., Jaglin, X. H., Qu, Z., Braun, A., Gstrein, T., Ngo, L., Haas, M., et al. (2012) · Cell Reports · doi:10.1016/j.celrep.2012.11.017 · Cited by 195
Self-citationTubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects
Jaglin, X. H., & Chelly, J. (2009) · Trends in Genetics · doi:10.1016/j.tig.2009.10.003 · Cited by 190
Self-citationMutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
Willemsen, M. H., Vissers, L. E. L., Willemsen, M. A. A. P., van Bon, B. W. M., Kroes, T., de Ligt, J., de Vries, B. B., Schoots, J., Lugtenberg, D., Hamel, B. C. J., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100542 · Cited by 183
An atomic-level mechanism for activation of the kinesin molecular motors
Sindelar, C., & Downing, K. (2010) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.0911208107 · Cited by 181
Gibbons, I. R., Garbarino, J. E., Tan, C. E., Reck-Peterson, S. L., Vale, R. D., & Carter, A. P. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m501636200 · Cited by 171
Human disorders of cortical development: from past to present
Francis, F., Meyer, G., Fallet‐Bianco, C., Moreno, S., Kappeler, C., Socorro, A. C., Tuy, F. P. D., Beldjord, C., & Chelly, J. (2006) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2006.04649.x · Cited by 167
Self-citationChaperonin-mediated folding of vertebrate actin-related protein and gamma-tubulin
Melki, R., Vainberg, I., Chow, R., & Cowan, N. (1993) · The Journal of cell biology · doi:10.1083/jcb.122.6.1301 · Cited by 167
Self-citationManzini, M. C., & Walsh, C. A. (2011) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2011.01.006 · Cited by 151
Specificity in chaperonin-mediated protein folding
Tian, G., Vainberg, I. E., Tap, W. D., Lewis, S. A., & Cowan, N. J. (1995) · Nature · doi:10.1038/375250a0 · Cited by 131
Self-citationLissencephaly: Mechanistic insights from animal models and potential therapeutic strategies
Wynshaw-Boris, A. J., Pramparo, T., Youn, Y. H., & Hirotsune, S. (2010) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2010.07.008 · Cited by 87
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance
Tsurusaki, Y., Saitoh, S., Tomizawa, K., Sudo, A., Asahina, N., Shiraishi, H., Ito, J.-I., Tanaka, H., Doi, H., Saitsu, H., et al. (2012) · Neurogenetics · doi:10.1007/s10048-012-0337-6 · Cited by 84
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
Poirier, K., Saillour, Y., Fourniol, F. J., Francis, F., Souville, I., Valence, S., Desguerre, I., Lepage, J. M., Boddaert, N., Jacquemont, M. L., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.195 · Cited by 67
Self-citationBernal, C., Palacin, C., Boronat, A., & Imperial, S. (2004) · Analytical Biochemistry · doi:10.1016/j.ab.2004.10.011 · Cited by 42
Neuronal migration defects in the Loa dynein mutant mouse
Ori-McKenney, K. M., & Vallee, R. B. (2011) · Neural Development · doi:10.1186/1749-8104-6-26 · Cited by 40
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
Kousar, R., Hassan, M. J., Khan, B., Basit, S., Mahmood, S., Mir, A., Ahmad, W., & Ansar, M. (2011) · BMC Neurology · doi:10.1186/1471-2377-11-119 · Cited by 36
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Axonal transport: cargo-specific mechanisms of motility and regulation
Maday, S., Twelvetrees, A. E., Moughamian, A. J., & Holzbaur, E. L. F. (2014) · Neuron · doi:10.1016/j.neuron.2014.10.019 · Cited by 683
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Guerrini, R., & Dobyns, W. B. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70040-7 · Cited by 513
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Metadata
- Authors
- Poirier, K., Lebrun, N., Broix, L., Tian, G., Saillour, Y., Boscheron, C., Parrini, E., Valence, S., Pierre, B. S., Oger, M., Lacombe, D., Geneviève, D., Fontana, E., Darra, F., Cances, C., Barth, M., Bonneau, D., Bernadina, B. D., N'Guyen, S., Gitiaux, C., Parent, P., des Portes, V., Pedespan, J. M., Legrez, V., Castelnau-Ptakine, L., Nitschke, P., Hieu, T., Masson, C., Zelenika, D., Andrieux, A., Francis, F., Guerrini, R., Cowan, N. J., Bahi-Buisson, N., & Chelly, J.
- Venue
- Nature Genetics
- Published
- 2013-04-21
- Volume
- 45
- Issue
- 6
- Pages
- 639-647
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2159720471
- Cited by
- 494
- References
- 54
- FWCI
- 20.95
- Type
- journal article
- Language
- en
- Open access
- green
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