Kinetochore KMN network gene CASC5 mutated in primary microcephaly
Open accessAbstract
Several genes expressed at the centrosome or spindle pole have been reported to underlie autosomal recessive primary microcephaly (MCPH), a neurodevelopmental disorder consisting of an important brain size reduction present since birth, associated with mild-to-moderate mental handicap and no other neurological feature nor associated malformation. Here, we report a mutation of CASC5 (aka Blinkin, or KNL1, or hSPC105) in MCPH patients from three consanguineous families, in one of which we initially reported the MCPH4 locus. The combined logarithm of odds score of the three families was >6. All patients shared a very rare homozygous mutation of CASC5. The mutation induced skipping of exon 18 with subsequent frameshift and truncation of the predicted protein. CASC5 is part of the KMN network of the kinetochore and is required for proper microtubule attachment to the chromosome centromere and for spindle-assembly checkpoint (SAC) activation during mitosis. Like MCPH gene ASPM, CASC5 is upregulated in the ventricular zone (VZ) of the human fetal brain. CASC5 binds BUB1, BUBR1, ZWINT-1 and interestingly it binds to MIS12 through a protein domain which is truncated by the mutation. CASC5 localized at the equatorial plate like ZWINT-1 and BUBR1, while ASPM, CEP152 and PCTN localized at the spindle poles in our patients and in controls. Comparison of primate and rodent lineages indicates accelerated evolution of CASC5 in the human lineage. Our data provide strong evidence for CASC5 as a novel MCPH gene, and underscore the role of kinetochore integrity in proper volumetric development of the human brain.
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More changes related to microcephaly are found on both lineages, for example in ATRX or CASC5.
“Nevertheless, more changes related to microcephaly are found on both lineages, for example in ATRX73 or CASC574 (Supplementary Information 3).”
From A catalog of single nucleotide changes distinguishing modern humans from archaic hominins (2019) · cites this paper as [74]
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Spatio-temporal transcriptome of the human brain
Kang, H. J., Kawasawa, Y. I., Cheng, F., Zhu, Y., Xu, X., Li, M., Sousa, A. M. M., Pletikos, M., Meyer, K. A., Sedmak, G., et al. (2011) · Nature · doi:10.1038/nature10523 · Cited by 2,084 · see citing works
Ultraconserved Elements in the Human Genome
Bejerano, G., Pheasant, M., Makunin, I., Stephen, S., Kent, W. J., Mattick, J. S., & Haussler, D. (2004) · Science · doi:10.1126/science.1098119 · Cited by 1,732 · see citing works
A developmental and genetic classification for malformations of cortical development: update 2012
Barkovich, A. J., Guerrini, R., Kuzniecky, R., Jackson, G. D., & Dobyns, W. B. (2012) · Brain · doi:10.1093/brain/aws019 · Cited by 1,110 · see citing works
An intrinsic mechanism of corticogenesis from embryonic stem cells
Gaspard, N., Bouschet, T., Hourez, R., Dimidschstein, J., Naeije, G., van den Ameele, J., Espuny-Camacho, I., Herpoel, A., Passante, L., Schiffmann, S. N., et al. (2008) · Nature · doi:10.1038/nature07287 · Cited by 641 · see citing works
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
Hanks, S., Coleman, K., Reid, S., Plaja, A., Firth, H., Fitzpatrick, D., Kidd, A., Méhes, K., Nash, R., Robin, N. H., et al. (2004) · Nature Genetics · doi:10.1038/ng1449 · Cited by 627 · see citing works
ASPM is a major determinant of cerebral cortical size
Bond, J., Roberts, E., Mochida, G. H., Hampshire, D. J., Scott, S., Askham, J. M., Springell, K., Mahadevan, M., Crow, Y. J., Markham, A. F., et al. (2002) · Nature Genetics · doi:10.1038/ng995 · Cited by 581 · see citing works
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
Bond, J., Roberts, E., Springell, K., Lizarraga, S., Scott, S., Higgins, J. W., Hampshire, D. J., Morrison, E. E., Leal, G. F., Silva, E. O., et al. (2005) · Nature Genetics · doi:10.1038/ng1539 · Cited by 564 · see citing works
Identification of microcephalin, a protein implicated in determining the size of the human brain
Jackson, A. P., Eastwood, H., Bell, S. M., Adu, J., Toomes, C., Carr, I. M., Roberts, E., Hampshire, D. J., Crow, Y. J., Mighell, A. J., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/341283 · Cited by 482 · see citing works
Welburn, J. P. I., Vleugel, M., Liu, D., Yates, J. R., Lampson, M. A., Fukagawa, T., & Cheeseman, I. M. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.02.034 · Cited by 481 · see citing works
Woods, C. G., Bond, J., & Enard, W. (2005) · The American Journal of Human Genetics · doi:10.1086/429930 · Cited by 429 · see citing works
Accelerated Evolution of Nervous System Genes in the Origin of Homo sapiens
Dorus, S., Vallender, E. J., Evans, P. D., Anderson, J. R., Gilbert, S. L., Mahowald, M. A., Wyckoff, G. J., Malcom, C. M., & Lahn, B. T. (2004) · Cell · doi:10.1016/j.cell.2004.11.040 · Cited by 428 · see citing works
Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells
Fish, J. L., Kosodo, Y., Enard, W., Pääbo, S., & Huttner, W. B. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0604066103 · Cited by 421 · see citing works
Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism
Rauch, A. M., Thiel, C. T., Schindler, D., Wick, U., Crow, Y. J., Ekici, A. B., van Essen, A. J., Goecke, T. O., Al‐Gazali, L., Chrzańowska, K., et al. (2008) · Science · doi:10.1126/science.1151174 · Cited by 396 · see citing works
Liu, D., Vleugel, M., Backer, C. B., Hori, T., Fukagawa, T., Cheeseman, I. M., & Lampson, M. A. (2010) · The Journal of Cell Biology · doi:10.1083/jcb.201001006 · Cited by 369 · see citing works
HomozygosityMapper--an interactive approach to homozygosity mapping
Seelow, D., Schuelke, M., Hildebrandt, F., & Nürnberg, P. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp369 · Cited by 365 · see citing works
Fietz, S. A., Lachmann, R., Brandl, H., Kircher, M., Samusik, N., Schröder, R., Lakshmanaperumal, N., Henry, I., Vogt, J., Riehn, A., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1209647109 · Cited by 337 · see citing works
The human mitotic checkpoint protein BubR1 regulates chromosome–spindle attachments
Lampson, M. A., & Kapoor, T. M. (2004) · Nature Cell Biology · doi:10.1038/ncb1208 · Cited by 313 · see citing works
Kiyomitsu, T., Obuse, C., & Yanagida, M. (2007) · Developmental Cell · doi:10.1016/j.devcel.2007.09.005 · Cited by 301 · see citing works
WDR62 is associated with the spindle pole and is mutated in human microcephaly
Nicholas, A. K., Khurshid, M., Désir, J., Carvalho, O. P., Cox, J. J., Thornton, G., Kausar, R., Ansar, M., Ahmad, W., Verloès, A., et al. (2010) · Nature Genetics · doi:10.1038/ng.682 · Cited by 297 · see citing works
Self-citationShepperd, L. A., Meadows, J. C., Sochaj, A. M., Lancaster, T. C., Zou, J., Buttrick, G. J., Rappsilber, J., Hardwick, K., & Millar, J. B. A. (2012) · Current Biology · doi:10.1016/j.cub.2012.03.051 · Cited by 278 · see citing works
Gruber, R., Zhou, Z., Sukchev, M., Jörß, T., Frappart, P., & Wang, Z. (2011) · Nature Cell Biology · doi:10.1038/ncb2342 · Cited by 236 · see citing works
Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly
Kumar, A., Girimaji, S. C., Duvvari, M. R., & Blanton, S. H. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.01.017 · Cited by 231 · see citing works
The MIS12 complex is a protein interaction hub for outer kinetochore assembly
Petrović, A., Pasqualato, S., Dube, P., Krenn, V., Santaguida, S., Cittaro, D., Monzani, S., Massimiliano, L., Keller, J., Tarricone, A., et al. (2010) · The Journal of Cell Biology · doi:10.1083/jcb.201002070 · Cited by 227 · see citing works
Enhancer and promoter interactions—long distance calls
Krivega, I., & Dean, A. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2011.11.001 · Cited by 225 · see citing works
A primary microcephaly protein complex forms a ring around parental centrioles
Sir, J.-H., Barr, A. R., Nicholas, A. K., Carvalho, O. P., Khurshid, M., Sossick, A., Reichelt, S., D’Santos, C. S., Woods, C. G., & Gergely, F. V. (2011) · Nature Genetics · doi:10.1038/ng.971 · Cited by 218 · see citing works
The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation
Kline-Smith, S. L., Cheeseman, I. M., Hori, T., Fukagawa, T., & Desai, A. B. (2006) · The Journal of Cell Biology · doi:10.1083/jcb.200509158 · Cited by 213 · see citing works
Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
Guernsey, D. L., Jiang, H., Hussin, J., Arnold, M., Bouyakdan, K., Perry, S., Babineau-Sturk, T., Beis, J., Dumas, N., Evans, S. C., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.06.003 · Cited by 200 · see citing works
Gaildrat, P., Killian, A., Martins, A., Tournier, I., Frébourg, T., & Tosi, M. (2010) · Methods in Molecular Biology · doi:10.1007/978-1-60761-759-4_15 · Cited by 198 · see citing works
Self-citationKNL1 and the CENP-H/I/K Complex Coordinately Direct Kinetochore Assembly in Vertebrates
Cheeseman, I. M., Hori, T., Fukagawa, T., & Desai, A. B. (2007) · Molecular Biology of the Cell · doi:10.1091/mbc.e07-10-1051 · Cited by 193 · see citing works
BRIT1/MCPH1 links chromatin remodelling to DNA damage response
Peng, G., Yim, E.-K., Dai, H., Jackson, A. P., van der Burgt, I., Pan, M., Hu, R., Li, K., & Lin, S. (2009) · Nature Cell Biology · doi:10.1038/ncb1895 · Cited by 186 · see citing works
A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
Hussain, M. S., Baig, S. M., Neumann, S., Nürnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H. C., Technau, M., Altmüller, J., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.03.016 · Cited by 180 · see citing works
Neitzel, H., Neumann, L. M., Schindler, D., Wirges, A., Tönnies, H., Trimborn, M., Krebsová, A., Richter, R., & Sperling, K. (2002) · The American Journal of Human Genetics · doi:10.1086/339518 · Cited by 159 · see citing works
Krenn, V., Wehenkel, A. M., Li, X., Santaguida, S., & Musacchio, A. (2012) · The Journal of Cell Biology · doi:10.1083/jcb.201110013 · Cited by 124 · see citing works
Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15
Jamieson, C. R., Govaerts, C., & Abramowicz, M. J. (1999) · The American Journal of Human Genetics · doi:10.1086/302640 · Cited by 112 · see citing works
Self-citationThe Abnormal Spindle-like, Microcephaly-associated (ASPM) Gene Encodes a Centrosomal Protein
Zhong, X., Liu, L., Zhao, A., Pfeifer, G. P., & Xu, X. (2005) · Cell Cycle · doi:10.4161/cc.4.9.2029 · Cited by 104 · see citing works
Kiyomitsu, T., Murakami, H., & Yanagida, M. (2011) · Molecular and Cellular Biology · doi:10.1128/mcb.00815-10 · Cited by 102 · see citing works
Bolaños-García, V. M., Lischetti, T., Matak‐Vinković, D., Cota, E., Simpson, P. J., Chirgadze, D. Y., Spring, D. R., Robinson, C. V., Nilsson, J., & Blundell, T. L. (2011) · Structure · doi:10.1016/j.str.2011.09.017 · Cited by 73 · see citing works
Microcephaly: Genetic counselling and antenatal diagnosis after the birth of an affected child
Tolmie, J., McNay, M. B., Stephenson, J. B. P., Doyle, D., Connor, J. M., Opitz, J. M., & Reynolds, J. F. (1987) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320270311 · Cited by 58 · see citing works
Kloss, B. A. V., Zinkevich, N. S., Mustonen, A., Schilter, K. F., Bosenko, D. V., Reis, L. M., Broeckel, U., Link, B. A., & Semina, E. V. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-6060 · Cited by 51 · see citing works
Microcephalin Encodes a Centrosomal Protein
Zhong, X., Pfeifer, G. P., & Xu, X. (2006) · Cell Cycle · doi:10.4161/cc.5.4.2481 · Cited by 51 · see citing works
Positive and Negative Selection in Murine Ultraconserved Noncoding Elements
Halligan, D. L., Oliver, F., Guthrie, J., STEMSHORN, K. C., Harr, B., & Keightley, P. D. (2011) · Molecular Biology and Evolution · doi:10.1093/molbev/msr093 · Cited by 34 · see citing works
Kim, D. S., & Hahn, Y. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr426 · Cited by 18 · see citing works
Marchal, J. A., Ghani, M., Schindler, D., Gavvovidis, I., Winkler, T., Esquitino, V., Sternberg, N., Busche, A., Krawitz, P. M., Hecht, J., et al. (2011) · Cell Cycle · doi:10.4161/cc.10.17.16871 · Cited by 13 · see citing works
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The Genetics of Primary Microcephaly
Jayaraman, D., Bae, B.-I., & Walsh, C. A. (2018) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083117-021441 · Cited by 277 · see citing works
Molecular genetics of human primary microcephaly: an overview
Faheem, M., Naseer, M. I., Rasool, M., Chaudhary, A., Kumosani, T., Ilyas, A. M., Pushparaj, P. N., Ahmed, F., Algahtani, H. A., Al-Qahtani, M. H., et al. (2015) · BMC Medical Genomics · doi:10.1186/1755-8794-8-s1-s4 · Cited by 234 · see citing works
The Diverse Genetic Landscape of Neurodevelopmental Disorders
Hu, W. F., Chahrour, M. H., & Walsh, C. A. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090413-025600 · Cited by 169 · see citing works
Small organelle, big responsibility: the role of centrosomes in development and disease
Chavali, P. L., Pütz, M., & Gergely, F. V. (2014) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2013.0468 · Cited by 150 · see citing works
Alcantara, D., & O’Driscoll, M. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31397 · Cited by 136 · see citing works
Igoillo‐Esteve, M., Genin, A., Lambert, N., Désir, J., Pirson, I., Abdulkarim, B., Simonis, N., Drielsma, A., Marselli, L., Marchetti, P., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003888 · Cited by 128 · see citing works
Self-citationHussain, M. S., Baig, S. M., Neumann, S., Peche, V. S., Szczepanski, S., Nürnberg, G., Tariq, M., Jameel, M., Khan, T. N., Fatima, A., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt374 · Cited by 126 · see citing works
Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly
Barbelanne, M., & Tsang, W. Y. (2014) · BioMed Research International · doi:10.1155/2014/547986 · Cited by 109 · see citing works
A catalog of single nucleotide changes distinguishing modern humans from archaic hominins
Kuhlwilm, M., & Boeckx, C. (2019) · Scientific Reports · doi:10.1038/s41598-019-44877-x · Cited by 108 · see citing works
Mirzaa, G., Vitre, B., Carpenter, G., Abramowicz, I., Gleeson, J. G., Paciorkowski, A. R., Cleveland, D. W., Dobyns, W. B., & O’Driscoll, M. (2014) · Human Genetics · doi:10.1007/s00439-014-1443-3 · Cited by 95 · see citing works
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
Kadir, R., Harel, T., Markus, B., Perez, Y., Bakhrat, A., Cohen, I., Volodarsky, M., Feintsein-Linial, M., Chervinski, E., Zlotogora, J., et al. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1005919 · Cited by 95 · see citing works
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)
Naveed, M., Kazmi, S. K., Amin, M., Asif, Z., Islam, U., Shahid, K., & Tehreem, S. (2018) · Genetics Research · doi:10.1017/s0016672318000046 · Cited by 90 · see citing works
Time is of the essence: the molecular mechanisms of primary microcephalyPreprint
Phan, T. P., & Holland, A. J. (2021) · Genes & Development · doi:10.1101/gad.348866.121 · Cited by 82 · see citing works
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Moawia, A., Shaheen, R., Rasool, S., Waseem, S. S., Ewida, N., Budde, B. S., Kawalia, A., Motameny, S., Khan, K., Fatima, A., et al. (2017) · Annals of Neurology · doi:10.1002/ana.25044 · Cited by 85 · see citing works
Natural Selection in the Great Apes
Cagan, A., Theunert, C., Laayouni, H., Santpere, G., Pybus, M., Casals, F., Prüfer, K., Navarro, A., Marquès‐Bonet, T., Bertranpetit, J., et al. (2016) · Molecular Biology and Evolution · doi:10.1093/molbev/msw215 · Cited by 84 · see citing works
Morris-Rosendahl, D. J., & Kaindl, A. M. (2015) · Molecular and Cellular Probes · doi:10.1016/j.mcp.2015.05.015 · Cited by 69 · see citing works
Dissecting the Genetic and Etiological Causes of Primary Microcephaly
Jean, F., Stuart, A., & Tarailo‐Graovac, M. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.570830 · Cited by 71 · see citing works
Khan, M. A., Rupp, V., Orpinell, M., Hussain, M. S., Altmüller, J., Steinmetz, M. O., Enzinger, C., Thiele, H., Höhne, W. E., Nürnberg, G., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu318 · Cited by 69 · see citing works
Homberg, J. R., Kyzar, E. J., Scattoni, M. L., Norton, W., Pittman, J. T., Gaikwad, S., Nguyen, M., Poudel, M. K., Ullmann, J. F. P., Diamond, D. M., et al. (2016) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2016.04.015 · Cited by 62 · see citing works
Mora‐Bermúdez, F., Kanis, P., Macak, D., Peters, J., Naumann, R., Sarov, M., Winkler, S., Oegema, C. E., Haffner, C., Xing, L., et al. (2022) · Science Advances · doi:10.1126/sciadv.abn7702 · Cited by 56 · see citing works
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Basit, S., Al-Harbi, K. M., Alhijji, S. A. M., Albalawi, A. M., Alharby, E., El-Dardear, A., & Samman, M. I. (2016) · Human Genetics · doi:10.1007/s00439-016-1724-0 · Cited by 56 · see citing works
Autosomal Recessive Primary Microcephaly: Not Just a Small Brain
Zaqout, S., & Kaindl, A. M. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.784700 · Cited by 54 · see citing works
Consequences of Centrosome Dysfunction During Brain Development
Nano, M., & Basto, R. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-57127-0_2 · Cited by 52 · see citing works
MCPH1: a window into brain development and evolution
Pulvers, J. N. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00092 · Cited by 49 · see citing works
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Ghongane, P., Kapanidou, M., Asghar, A., Elowe, S., & Bolaños-García, V. M. (2014) · Journal of Cell Science · doi:10.1242/jcs.149922 · Cited by 49 · see citing works
Sgourdou, P., Mishra-Gorur, K., Saotome, I., Henagariu, O., Tüysüz, B., Campos, C. R., Ishigame, K., Γιαννίκου, Κ., Quon, J. L., Šestan, N., et al. (2017) · Scientific Reports · doi:10.1038/srep43708 · Cited by 48 · see citing works
Shi, L., Qalieh, A., Lam, M. M. S., Keil, J. M., & Kwan, K. Y. (2019) · Nature Communications · doi:10.1038/s41467-019-10411-w · Cited by 49 · see citing works
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Omer Javed, A., Li, Y., Muffat, J., Su, K.-C., Cohen, M. A., Lungjangwa, T., Aubourg, P., Cheeseman, I. M., & Jaenisch, R. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.09.032 · Cited by 46 · see citing works
Alsiary, R., Brüning‐Richardson, A., Bond, J., Morrison, E. E., Wilkinson, N. S., & Bell, S. M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0097059 · Cited by 44 · see citing works
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Cheerambathur, D. K., Prevo, B., Chow, T.-L., Hattersley, N., Wang, S., Zhao, Z., Kim, T., Gerson‐Gurwitz, A., Oegema, K., Green, R. A., et al. (2019) · Developmental Cell · doi:10.1016/j.devcel.2019.02.002 · Cited by 43 · see citing works
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Siskos, N., Stylianopoulou, E., Skavdis, G., & Grigoriou, M. E. (2021) · Brain Sciences · doi:10.3390/brainsci11050581 · Cited by 43 · see citing works
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Poulton, J. S., Cuningham, J. C., & Peifer, M. A. (2017) · The Journal of Cell Biology · doi:10.1083/jcb.201607022 · Cited by 39 · see citing works
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Verloès, A., Drunat, S., Gressèns, P., & Passemard, S. (2013) · Cited by 38 · see citing works
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Duerinckx, S., & Abramowicz, M. (2017) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2017.09.015 · Cited by 38 · see citing works
Self-citationSzczepanski, S., Hussain, M. S., Sur‐Erdem, İ., Altmüller, J., Thiele, H., Abdullah, U., Waseem, S. S., Moawia, A., Nürnberg, G., Noegel, A. A., et al. (2015) · Human Genetics · doi:10.1007/s00439-015-1619-5 · Cited by 37 · see citing works
Narayanan, M., Ramsey, K. M., Grebe, T. A., Schrauwen, I., Szelinger, S., Huentelman, M. J., Craig, D. W., & Narayanan, V. (2015) · F1000Research · doi:10.12688/f1000research.7106.1 · Cited by 34 · see citing works
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Ahmad, I., Baig, S. M., Abdulkareem, A., Hussain, M. S., Sur‐Erdem, İ., Toliat, M. R., Nürnberg, G., Dalibor, N., Moawia, A., Waseem, S. S., et al. (2016) · Clinical Genetics · doi:10.1111/cge.12955 · Cited by 33 · see citing works
The evolution of cortical development: the synapsid-diapsid divergence
Goffinet, A. M. (2017) · Development · doi:10.1242/dev.153908 · Cited by 31 · see citing works
Effect of KNL1 on the proliferation and apoptosis of colorectal cancer cells
Bai, T., Zhao, Y., Liu, Y., Cai, B., Dong, N., & Li, B. (2019) · Technology in Cancer Research & Treatment · doi:10.1177/1533033819858668 · Cited by 30 · see citing works
Distinct effects of interleukin-6 and interferon-γ on differentiating human cortical neurons
Kathuria, A., Lopez-Lengowski, K., Roffman, J. L., & Karmacharya, R. (2022) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2022.04.007 · Cited by 30 · see citing works
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Kristofova, M., Ori, A., & Wang, Z. (2022) · Cells · doi:10.3390/cells11020275 · Cited by 30 · see citing works
The Mitotic Apparatus and Kinetochores in Microcephaly and Neurodevelopmental Diseases
Degrassi, F., Damizia, M., & Lavia, P. (2019) · Cells · doi:10.3390/cells9010049 · Cited by 29 · see citing works
Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size
Farcy, S., Hachour, H., Bahi‐Buisson, N., & Passemard, S. (2023) · Cells · doi:10.3390/cells12131807 · Cited by 26 · see citing works
Autosomal recessive primary microcephalies (MCPH)
Kaindl, A. M. (2014) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2014.03.010 · Cited by 26 · see citing works
Simmons, A., Park, R., Sterling, N. A., Jang, M., van Deursen, J. M. A., Yen, T. J., Cho, S., & Kim, S. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz022 · Cited by 25 · see citing works
Duerinckx, S., Jacquemin, V., Drunat, S., Vial, Y., Passemard, S., Perazzolo, C., Massart, A., Soblet, J., Racapé, J., Desmyter, L., et al. (2019) · Human Mutation · doi:10.1002/humu.23948 · Cited by 25 · see citing works
Self-citationInhibiting microcephaly genes as alternative to microtubule targeting agents to treat brain tumors
Iegiani, G., Cunto, F. D., & Pallavicini, G. (2021) · Cell Death and Disease · doi:10.1038/s41419-021-04259-6 · Cited by 24 · see citing works
Wang, R., Khan, A. U., Han, S., & Zhang, X. (2016) · Journal of Human Genetics · doi:10.1038/jhg.2016.128 · Cited by 25 · see citing works
DNA damage and repair: underlying mechanisms leading to microcephaly
Ribeiro, J. H., Altinisik, N., Rajan, N., Verslegers, M., Baatout, S., Gopalakrishnan, J., & Quintens, R. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1268565 · Cited by 23 · see citing works
Recent Advances in the Genetic Etiology of Brain Malformations
Dyment, D. A., Sawyer, S. L., Warman‐Chardon, J., & Boycott, K. M. (2013) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-013-0364-1 · Cited by 23 · see citing works
Refining the phenotype associated with CASC5 mutation
Saadi, A., Verny, F., Siquier-Pernet, K., Bôle‐Feysot, C., Nitschké, P., Münnich, A., Abada-Dendib, M., Chaouch, M., Abramowicz, M., & Colleaux, L. (2015) · Neurogenetics · doi:10.1007/s10048-015-0468-7 · Cited by 23 · see citing works
Self-citationAlrayes, N. M., Mohamoud, H. S. A., Ahmed, S., Almramhi, M. M., Shuaib, T., Wang, J., Al-Aama, J. Y., Everett, K. V., Nasir, J., & Jelani, M. (2016) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2016.02.063 · Cited by 23 · see citing works
Mastrodonato, V., Beznoussenko, G. V., Mironov, A., Ferrari, L., Deflorian, G., & Vaccari, T. (2019) · Scientific Reports · doi:10.1038/s41598-018-37780-4 · Cited by 23 · see citing works
A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family
Naseer, M. I., Rasool, M., Sogaty, S., Chaudhary, R. A., Mansour, H., Chaudhary, A., Abuzenadah, A. M., & Al-Qahtani, M. H. (2017) · Annals of Saudi Medicine · doi:10.5144/0256-4947.2017.148 · Cited by 22 · see citing works
Human-Specific Hypomethylation of CENPJ, a Key Brain Size Regulator
Shi, L., Lin, Q., & Su, B. (2013) · Molecular Biology and Evolution · doi:10.1093/molbev/mst231 · Cited by 21 · see citing works
Shi, L., Hu, E., Wang, Z., Liu, J., Li, J., Li, M., Chen, H., Yu, C., Jiang, T., & Su, B. (2017) · Human Genetics · doi:10.1007/s00439-016-1748-5 · Cited by 20 · see citing works
Duerinckx, S., Désir, J., Perazzolo, C., Badoer, C., Jacquemin, V., Soblet, J., Maystadt, I., Tunca, Y., Blaumeiser, B., Ceulemans, B., et al. (2021) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1768 · Cited by 17 · see citing works
Self-citationAsif, M., Abdullah, U., Nürnberg, P., Tinschert, S., & Hussain, M. S. (2023) · Cells · doi:10.3390/cells12040642 · Cited by 22 · see citing works
Zhou, X., Zhi, Y., Yu, J., & Xu, D. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21051691 · Cited by 20 · see citing works
Chung, J. H., Cai, J., Suskin, B. G., Zhang, Z., Coleman, K. B., & Morrow, B. E. (2015) · Human Mutation · doi:10.1002/humu.22814 · Cited by 19 · see citing works
Molecular evolution of WDR62, a gene that regulates neocorticogenesis
Pervaiz, N., & Abbasi, A. A. (2016) · Meta Gene · doi:10.1016/j.mgene.2016.02.005 · Cited by 17 · see citing works
An essential step of kinetochore formation controlled by the SNARE protein Snap29
Morelli, E., Mastrodonato, V., Beznoussenko, G. V., Mironov, A., Tognon, E., & Vaccari, T. (2016) · The EMBO Journal · doi:10.15252/embj.201693991 · Cited by 18 · see citing works
Urata, Y. N., Takeshita, F., Tanaka, H., Ochiya, T., & Takimoto, M. (2015) · Scientific Reports · doi:10.1038/srep13676 · Cited by 20 · see citing works
Darvish, H., Azcona, L. J., Tafakhori, A., Mesias, R., Ahmadifard, A., Sánchez, E., Habibi, A., Alehabib, E., Johari, A. H., Emamalizadeh, B., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-57929-4 · Cited by 17 · see citing works
Kinetochore Malfunction in Human Pathologies
de Wolf, B., & Kops, G. J. P. L. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-57127-0_4 · Cited by 18 · see citing works
Tan, C., del Gaudio, D., Dempsey, M. A., Arndt, K., Botes, S., Reeder, A., & Das, S. (2013) · Clinical Genetics · doi:10.1111/cge.12172 · Cited by 16 · see citing works
A novel single base pair duplication in WDR62 causes primary microcephaly
Rupp, V., Rauf, S., Naveed, I., Windpassinger, C., & Mir, A. (2014) · BMC Medical Genetics · doi:10.1186/s12881-014-0107-4 · Cited by 13 · see citing works
Uehara, D. T., Mitsubuchi, H., & Inazawa, J. (2021) · Human Genetics · doi:10.1007/s00439-021-02273-4 · Cited by 14 · see citing works
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure
Hung, C., Volkmar, B., Baker, J. D., Bauer, J. W., Gussoni, E., Hainzl, S., Klausegger, A., Lorenzo, J., Mihalek, I., Rittinger, O., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0189324 · Cited by 12 · see citing works
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation
Pfau, R. B., Thrush, D. L., Hamelberg, E., Bartholomew, D., Botes, S., Pastore, M., Tan, C. A., del Gaudio, D., Gastier, J. M., & Astbury, C. (2013) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.09.007 · Cited by 12 · see citing works
Molecular evolutionary analysis of human primary microcephaly genes
Pervaiz, N., Kang, H., Bào, Y., & Abbasi, A. A. (2021) · BMC Ecology and Evolution · doi:10.1186/s12862-021-01801-0 · Cited by 11 · see citing works
First clinical report of an infant with microcephaly and CASC5 mutations
Zárate, Y. A., Kaylor, J. A., Bosanko, K. A., Lau, S., Vargas, J., & Gao, H. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37726 · Cited by 10 · see citing works
Integrated mRNAseq and microRNAseq data analysis for grade III gliomas
Dai, J., Bing, Z., Zhang, Y., Li, Q., Niu, L., Liang, W., Yuan, G., Duan, L., Yin, H., & Pan, Y. (2017) · Molecular Medicine Reports · doi:10.3892/mmr.2017.7545 · Cited by 10 · see citing works
Molecular characterization and clinical impact of t(11;15)(q23;q14-15) MLL-CASC5 rearrangement
Yang, J. J., Park, T. S., Lee, S., Seo, J.-Y., Oh, S. H., Cho, E. H., Strehl, S., Mühlegger, N., Dworzak, M. N., Zuna, J., et al. (2014) · Haematologica · doi:10.3324/haematol.2013.095638 · Cited by 9 · see citing works
Audett, M. R., Johnson, E. L., McGory, J. M., Barcelos, D. M., Szalai, E. O., Przewloka, M. R., & Maresca, T. J. (2021) · Molecular Biology of the Cell · doi:10.1091/mbc.e21-06-0307-t · Cited by 8 · see citing works
Primary microcephaly with an unstable genome
Xu, S., Wu, X., Peng, B., Cao, S., & Xu, X. (2020) · Genome Instability & Disease · doi:10.1007/s42764-020-00020-z · Cited by 7 · see citing works
Singh, M., & Kumar, S. (2023) · Biosystems · doi:10.1016/j.biosystems.2023.105021 · Cited by 6 · see citing works
Impact of KMN network genes on progression and prognosis of non-small cell lung cancer
Gao, H., Pan, Q.-Y., Wang, Y.-J., & Chen, Q.-F. (2021) · Anti-Cancer Drugs · doi:10.1097/cad.0000000000001220 · Cited by 6 · see citing works
Ruscu, M. A., Căpitănescu, B., Rupek, P., Dandekar, T., Radu, E., Hermann, D. M., & Popa‐Wagner, A. (2024) · Brain Pathology · doi:10.1111/bpa.13232 · Cited by 4 · see citing works
Poduri, A., & Volpe, J. J. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-42876-7.00005-3 · Cited by 5 · see citing works
D40/KNL1/CASC5 and autosomal recessive primary microcephaly
Takimoto, M. (2017) · Congenital Anomalies · doi:10.1111/cga.12252 · Cited by 5 · see citing works
Primary cilia as architects of the neocortex: Roles in brain development, function, and microcephaly
Thomsen, O. K., Fialová, J. L., Doğanlı, C., Herrera-Cid, C., Møllgård, K., Benmerah, A., Larsen, L. A., & Christensen, S. (2025) · Developmental Cell · doi:10.1016/j.devcel.2025.11.002 · Cited by 6 · see citing works
Consequences of Numerical Centrosome Defects in Development and Disease
Gambarotto, D., & Basto, R. (2016) · Springer eBooks · doi:10.1007/978-3-7091-1903-7_5 · Cited by 4 · see citing works
Ryabets‐Lienhard, A., Ayuthaya, S. I. N., Graham, J. M., & Pitukcheewanont, P. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38851 · Cited by 3 · see citing works
McGory, J. M., Verma, V., Barcelos, D. M., & Maresca, T. J. (2023) · The Journal of Cell Biology · doi:10.1083/jcb.202211122 · Cited by 3 · see citing works
Akbariazar, E., Ebrahimpour, M. R., Akbari, S., Arzhanghi, S., Abedini, S. S., Najmabadi, H., & Kahrizi, K. (2013) · Iranian journal of child neurology. · doi:10.22037/ijcn.v7i2.3840 · Cited by 3 · see citing works
Centromeres in Health, Disease and Evolution
Beh, T. T., & Kalitsis, P. (2015) · Springer eBooks · doi:10.1007/978-1-4939-3070-8_9 · Cited by 3 · see citing works
Emerging Roles for Transcription Factors During Mitosis
Flashner, S. P., & Azizkhan‐Clifford, J. (2025) · Cells · doi:10.3390/cells14040263 · Cited by 2 · see citing works
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
van Oirsouw, A. S. E., Nedbalová, P., Hančárová, M., Prchal, J., Prchalová, D., Vlčková, M., Bendová, Š., Monaghan, K. G., Dyer, L. M., Chen, Y., et al. (2025) · Genetics in Medicine · doi:10.1016/j.gim.2025.101555 · Cited by 2 · see citing works
Fellows, B. J., Tolezano, G. C., Pires, S. F., Ruegg, M. S. G., Knapp, K. M., Krepischi, A. C. V., & Bicknell, L. S. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63468 · Cited by 2 · see citing works
Collin, R., Doyon, K., Mullins‐Dansereau, V., Karam, M., Chabot‐Roy, G., Hillhouse, E. E., Orthwein, A., & Lesage, S. (2018) · Immunogenetics · doi:10.1007/s00251-018-1060-8 · Cited by 2 · see citing works
CASC5 Gene Expression Changes Correlate with Targeted Mutations in Leukemia
Bogdanov, K. V., Merzlikina, O., Mirolyubova, Y. V., Girshova, L., Галактионовна, Л. Е., & Zaritskey, A. Y. (2021) · Molecular Biology · doi:10.1134/s0026893321010027 · Cited by 2 · see citing works
Gong, S., Ge, Y., Wei, Y., & Gao, Y. (2023) · Ecology and Evolution · doi:10.1002/ece3.10361 · Cited by 2 · see citing works
RBMX enables productive RNA processing of ultra-long exons important for genome stabilityPreprint
Luzzi, S., Hysenaj, G., Siachisumo, C., Cheung, K., Gazzara, M. R., James, K., Dalgliesh, C., Chadegani, M. K., Ehrmann, I. E., Smith, G. R., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.10.09.333039 · Cited by 2 · see citing works
Passemard, S., Laquerrière, A., Journiac, N., & Gressèns, P. (2018) · Wiley eBooks · doi:10.1002/9781119013112.ch4 · Cited by 2 · see citing works
The Expansion of the Cortical Sheet in Primates
Mayer, S., & Kriegstein, A. R. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-820584-6.00021-0 · Cited by 1 · see citing works
Molekulare Grundlagen der autosomal-rezessiven primären Mikrozephalie
Yigit, G., Rosin, N., & Wollnik, B. (2015) · Medizinische Genetik · doi:10.1007/s11825-015-0068-9 · Cited by 1 · see citing works
The Expansion of the Cortical Sheet in Primates
Mayer, S., & Kriegstein, A. R. (2016) · Evolution of Nervous Systems · doi:10.1016/b978-0-12-804042-3.00077-4 · Cited by 1 · see citing works
Изменение экспрессии гена CASC5 коррелирует с таргетными мутациями при лейкозе
Bogdanov, K. V., Merzlikina, O., Миролюбова, Ю. В., Girshova, L., Галактионовна, Л. Е., & Зарицкий, А. Ю. (2020) · Molecular Biology · doi:10.31857/s002689842101002x · Cited by 1 · see citing works
- Authors
- Genin, A., Desir, J., Lambert, N., Biervliet, M., Van Der Aa, N., Pierquin, G., Killian, A., Tosi, M., Urbina, M., Lefort, A., Libert, F., Pirson, I., & Abramowicz, M.
- Affiliations
- Université Libre de Bruxelles (BE)
- Antwerp University Hospital (BE)
- University of Liège (BE)
- Inserm (FR)
- Corresponding author
- Pirson, I.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2012-09-13
- Volume
- 21
- Issue
- 24
- Pages
- 5306-5317
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2157294078
- Cited by
- 116
- References
- 43
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 2 · 2023: 7 · 2022: 4 · 2021: 10 · 2020: 9 · 2019: 12 · 2018: 8 · 2017: 14 · 2016: 15 · 2015: 10 · 2014: 12 · 2013: 8
- FWCI
- 4.53
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- Dépôt institutionnel de l'Université libre de Bruxelles (Université Libre de Bruxelles) (submittedVersion, other-oa)
- Open Repository and Bibliography (University of Liège) (submittedVersion)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- Funders
- Fonds Erasme
- Fonds De La Recherche Scientifique - FNRS
- Fonds pour la Formation à la Recherche dans l’Industrie et dans l’Agriculture
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Microtubule and mitosis dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- primary microcephaly, kinetochore, KMN network, spindle assembly checkpoint, centrosome, ASPM, exon skipping, consanguineous family, brain development, ventricular zone, BUB1, BubR1, protein evolution, neurodevelopmental disorders
- MeSH terms
- Cell Line, Cells, Cultured, Humans, Microcephaly, Microtubule-Associated Proteins, Mitosis, Mutation, Nerve Tissue Proteins, Nuclear Proteins, Protein Binding, Immunoblotting, Polymerase Chain Reaction, Protein Serine-Threonine Kinases, Kinetochores, Cell Cycle Proteins, Intracellular Signaling Peptides and Proteins
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