Cytoskeletal genes regulating brain size

Current Opinion in Cell Biology

Volumn 18, Issue 1, 2006, Pages 95-101

  Bond, Jacquelyn ^a   Woods, C Geoffrey ^b  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; CALMODULIN; CYCLIN DEPENDENT KINASE 5; CYTOSKELETON PROTEIN; GAMMA TUBULIN; GLUTAMINE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; ISOLEUCINE; MEGALIN; SMALL INTERFERING RNA;

BRAIN CORTEX; BRAIN SIZE; CELL COUNT; CELL CYCLE; CENTROSOME; COGNITION; DNA REPAIR; GENE IDENTIFICATION; HUMAN; MICROCEPHALY; MITOSIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; STEM CELL;

ADOLESCENT; ANIMALS; BRAIN; CHILD; DROSOPHILA PROTEINS; EVOLUTION, MOLECULAR; FEMALE; GENES, RECESSIVE; HOMEODOMAIN PROTEINS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MICE; MICROCEPHALY; MICROTUBULE-ASSOCIATED PROTEINS; MITOTIC SPINDLE APPARATUS; NERVE TISSUE PROTEINS; ORGAN SIZE;

MAMMALIA;

EID: 30844456213     PISSN: 09550674     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ceb.2005.11.004     Document Type: Review

References (60)

1. B.L. Finlay, and R.B. Darlington Linked regularities in the development of and evolution of mammalian brains Science 268 1995 1578 1584
2. S. Brand, and P. Rakic Genesis of the primate neostriatum: [3H]thymidine autoradiographic analysis of the time of neuron origin in the rhesus monkey Neuroscience 4 1979 767 778
3. A. Chenn, and S.K. McConnell Cleavage orientation and the asymmetric inheritance of Notch1 immunoreactivity in mammalian neurogenesis Cell 82 1995 631 641
4. T.F. Haydar, E. Ang Jr., and P. Rakic Mitotic spindle rotation and mode of cell division in the developing telencephalon Proc Natl Acad Sci USA 100 2003 2890 2895
5. S.C. Noctor, V. Martinez-Cerdeno, L. Ivic, and A.R. Kriegstein Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases Nat Neurosci 7 2004 136 144
6. J.L. Badano, T.M. Teslovich, and N. Katsanis The centrosome in human genetic disease Nat Rev Genet 6 2005 194 205
7. A.P. Jackson, H. Eastwood, S.M. Bell, J. Adu, C. Toomes, I.M. Carr, E. Roberts, D.J. Hampshire, Y.J. Crow, and A.J. Mighell Identification of microcephalin, a protein implicated in determining the size of the human brain Am J Hum Genet 71 2002 136 142
8. J. Bond, E. Roberts, G.H. Mochida, D.J. Hampshire, S. Scott, J.M. Askham, K. Springell, M. Mahadevan, Y.J. Crow, and A.F. Markham ASPM is a major determinant of cerebral cortical size Nat Genet 32 2002 316 320
9. J. Bond, E. Roberts, K. Springell, S.B. Lizarraga, S. Scott, J. Higgins, D.J. Hampshire, E.E. Morrison, G.F. Leal, and E.O. Silva A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size Nat Genet 37 2005 353 355 This paper describes the identification of the MCPH3 and MCPH6 genes and concludes that control of brain size (in MCPH) is a centrosomal mechanism.
10. G.H. Mochida, and C.A. Walsh Molecular genetics of human microcephaly Curr Opin Neurol 14 2001 151 156
11. J. Aicardi Malformations of the central nervous system J. Aicardi Diseases of the nervous system in childhood 3rd edition 1998 London McKeith Press 90 91
12. C.G. Woods Human microcephaly Curr Opin Neurobiol 14 2004 112 117
13. C.G. Woods, J. Bond, and W. Enard Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular and evolutionary findings Am J Hum Genet 76 2005 717 728 Comprehensive review of MCPH and the genes and mutations that underpin it, including evolutionary conclusions.
14. R.D. Saunders, M.C. Avides, T. Howard, C. Gonzalez, and D.M. Glover The Drosophila gene abnormal spindle encodes a novel microtubule-associated protein that associates with the polar regions of the mitotic spindle J Cell Biol 137 1997 881 890
15. N. Kouprina, A. Pavlicek, N.K. Collins, M. Nakano, V.N. Noskov, J. Ohzeki, G.H. Mochida, J.I. Risinger, P. Goldsmith, and M. Gunsior The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein Hum Mol Genet 14 2005 2155 2165
16. E. Korenbaum, and F. Rivero Calponin homology domains at a glance J Cell Sci 115 2002 3543 3545
17. J. Bond, S. Scott, D.J. Hampshire, K. Springell, P. Corry, M.J. Abramowicz, G.H. Mochida, R.C. Hennekam, E.R. Maher, and J.P. Fryns Protein-truncating mutations in ASPM cause variable reduction in brain size Am J Hum Genet 73 2003 1170 1177
18. E. Roberts, D.J. Hampshire, L. Pattison, K. Springell, H. Jafri, P. Corry, J. Mannon, Y. Rashid, Y. Crow, and J. Bond Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation J Med Genet 39 2002 718 721
19. B. Pichon, S. Vankerckhove, G. Bourrouillou, L. Duprez, and M.J. Abramowicz A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly Eur J Hum Genet 12 2004 419 421
20. A. Kumar, S. Blanton, M. Babu, M. Markandaya, and S. Girimaji Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations Clin Genet 66 2004 341 348
21. J. Shen, W. Eyaid, G.H. Mochida, F. Al-Moayyad, A. Bodell, C.G. Woods, and C.A. Walsh ASPM mutations identified in patients with primary microcephaly and seizures J Med Genet 42 2005 725 729
22. J. Zhang Evolution of the human ASPM gene, a major determinant of brain size Genetics 165 2003 2063 2070
23. P.D. Evans, J.R. Anderson, E.J. Vallender, S.L. Gilbert, C.M. Malcom, S. Dorus, and B.T. Lahn Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans Hum Mol Genet 13 2004 489 494
24. N. Kouprina, A. Pavlicek, G.H. Mochida, G. Solomon, W. Gersch, Y.H. Yoon, R. Collura, M. Ruvolo, J.C. Barrett, and C.G. Woods Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion PLoS Biol 2 2004 E126
25. N. Mekel-Bobrov, S.L. Gilbert, P.D. Evans, E.J. Vallender, J.R. Anderson, R.R. Hudson, S.A. Tishkoff, and B.T. Lahn Ongoing adaptive evolution of ASPM a brain size determinant of Homo sapiens Science 309 2005 1720 1722 Analysis of polymorphisms in the ASPM gene has indicated that positive evolutionary selection continues to operate in modern humans.
26. X. Zhong, L. Liu, A. Zhao, G.P. Pfeifer, and X. Xu The abnormal spindle-like, microcephaly-associated (ASPM) gene encodes a centrosomal protein Cell Cycle 4 2005 1227 1229
27. S. Morales-Mulia, and J.M. Scholey Spindle pole organization in Drosophila S2 cells by dynein, abnormal spindle protein (Asp), and KLP10A Mol Biol Cell 16 2005 3176 3186 This article describes the interdependent functions of Asp, KLP10A and dynein-dynactin in spindle pole focusing and centrosomal attachment. Significantly, the authors propose Asp binds to the minus ends of the spindle microtubules and crosslinks them to focused structures.
28. C. Gonzalez, R.D. Saunders, J. Casal, I. Molina, M. Carmena, P. Ripoll, and D.M. Glover Mutations at the asp locus of Drosophila lead to multiple free centrosomes in syncytial embryos, but restrict centrosome duplication in larval neuroblasts J Cell Sci 96 1990 605 616
29. M.C. Avides, and D.M. Glover Abnormal spindle protein, Asp, and the integrity of mitotic centrosomal microtubule organizing centres Science 283 1999 1733 1735
30. M. do Carmo Avides, A. Tavares, and D.M. Glover Polo kinase and Asp are needed to promote the mitotic organizing activity of centrosomes Nat Cell Biol 3 2001 421 424
31. M.G. Riparbelli, C. Massarelli, L.G. Robbins, and G. Callaini The abnormal spindle protein is required for germ cell mitosis and oocyte differentiation during Drosophila oogenesis Exp Cell Res 298 2004 96 106
32. J.G. Wakefield, S. Bonaccorsi, and M. Gatti The Drosophila protein asp is involved in microtubule organization during spindle formation and cytokinesis J Cell Biol 153 2001 637 648
33. M.G. Riparbelli, and G. Callaini The meiotic spindle of the Drosophila oocyte: the role of centrosomin and the central aster J Cell Sci 118 2005 2827 2836 This study determines that Asp is required for correct organisation of the central spindle microtubules; however, Cnn depletion does not affect midzone organisation but causes central aster defects later in meiosis.
34. A. Merdes, K. Ramyar, J.D. Vechio, and D.W. Cleveland A complex of NuMA and cytoplasmic dynein is essential for mitotic spindle assembly Cell 87 1996 447 458
35. L. Haren, and A. Merdes Direct binding of NuMA to tubulin is mediated by a novel sequence motif in the tail domain that bundles and stabilizes microtubules J Cell Sci 115 2002 1815 1824
36. M. Novatchkova, and F. Eisenhaber A CH domain-containing N-terminus in NuMA? Protein Sci 11 2002 2281 2284
37. Y.P. Ching, Z. Qi, and J.H. Wang Cloning of three novel neuronal Cdk5 activator binding proteins Gene 242 2000 285 294
38. Y.P. Ching, A.S. Pang, W.H. Lam, R.Z. Qi, and J.H. Wang Identification of a neuronal Cdk5 activator-binding protein as Cdk5 inhibitor J Biol Chem 277 2002 15237 15240
39. S. Kesavapany, B.S. Li, N. Amin, Y.L. Zheng, P. Grant, and H.C. Pant Neuronal cyclin-dependent kinase 5: role in nervous system function and its specific inhibition by the Cdk5 inhibitory peptide Biochim Biophys Acta 1697 2004 143 153
40. J.W. Raff Centrosomes: Central no more? Curr Biol 11 2001 R159 R161
41. K. Li, and T.C. Kaufman The homeotic target gene centrosomin encodes an essential centrosomal component Cell 85 1996 585 596
42. T.L. Megraw, K. Li, L.R. Kao, and T.C. Kaufman The centrosomin protein is required for centrosome assembly and function during cleavage in Drosophila Development 126 1999 2829 2839
43. I. Verde, G. Pahlke, M. Salanova, G. Zhang, S. Wang, D. Coletti, J. Onuffer, S.L. Jin, and M. Conti Myomegalin is a novel protein of the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase J Biol Chem 276 2001 11189 11198
44. L-Y. Hung, H-L. Chen, C-W. Chang, B-R. Li, and T.K. Tang Identification of a novel microtubule -destabilizing motif in CPAP that binds to tubulin heterodimers and inhibit microtubule assembly Mol Biol Cell 15 2004 2697 2706 A 112-aa region is identified that directly recognises the plus end of a microtubule, inhibits microtubule nucleation from the centrosome and can depolymerise taxol-stabilised microtubules.
45. L.Y. Hung, C.J. Tang, and T.K. Tang Protein 4.1R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the γ tubulin complex Mol Cell Biol 20 2000 7813 7825
46. S.W. Krauss, G. Lee, J.A. Chasis, N. Mohandas, and R. Heald Two protein 4.1 domains essential for mitotic spindle and aster microtubule dynamics and organization in vitro J Biol Chem 279 2004 27591 27598 This study demonstrates that immunodepletion of 4.1 disrupts microtubule arrays and mislocalises the spindle pole protein NuMA; however, addition of recombinant 4.1R isoform rescues the assembly. Two critical domains for microtubule polymerisation and organisation are identified.
47. S.C. Huang, R. Jagadeeswaran, E.S. Liu, and EJ. Benz Jr. Protein 4.1R, a microtubule-associated protein involved in microtubule aster assembly in mammalian mitotic extract J Biol Chem 279 2004 34595 34602 This paper describes the formation of a mitotic complex containing 4.1R, NuMA and tubulin that is required the formation of mitotic asters.
48. S.C. Huang, E.S. Lui, S.H. Chan, I.D. Munagala, H.T. Cho, R. Jagadeeswaran, and EJ. Benz Jr. Mitotic regulation of protein 4.1R involves phosphorylation by cdc2 kinase Mol Biol Cell 16 2005 117 127
49. B. Peng, K.D. Sutherland, E.Y. Sum, M. Olayioye, S. Wittlin, T.K. Tang, G.J. Lindeman, and J.E. Visvader CPAP is a novel stat5-interacting cofactor that augments stat5-mediated transcriptional activity Mol Endocrinol 16 2002 2019 2033
50. M. Koyanagi, M. Hijikata, K. Watashi, O. Masui, and K. Shimotohno Centrosomal P4.1-associated protein is a new member of transcriptional coactivators for nuclear factor-κB J Biol Chem 280 2005 12430 12437
51. T. Huyton, P.A. Bates, X. Zhang, M.J. Sternberg, and P.S. Freemont The BRCA1 C-terminal domain: structure and function Mutat Res 460 2000 319 332
52. X. Xu, J. Lee, and D.F. Stern Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1 J Biol Chem 279 2004 34091 34094
53. C. Ponting, and A.P. Jackson Evolution of primary microcephaly genes and the enlargement of primate brains Curr Opin Genet Dev 15 2005 241 248
54. M. Trimborn, S.M. Bell, C. Felix, Y. Rashid, H. Jafri, P.D. Griffiths, L.M. Neumann, A. Krebs, A. Reis, and K. Sperling Mutations in microcephalin cause aberrant regulation of chromosome condensation Am J Hum Genet 75 2004 261 266
55. S.Y. Lin, and S.J. Elledge Multiple tumor suppressor pathways negatively regulate telomerase Cell 113 2003 881 889
56. P.D. Evans, J.R. Anderson, E.J. Vallender, S.S. Choi, and B.T. Lahn Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size Hum Mol Genet 13 2004 1139 1145
57. P.D. Evans, S.L. Gilbert, N. Mekel-Bobrov, E.J. Vallender, J.R. Anderson, L.M. Vaez-Azizi, S.A. Tishkoff, R.R. Hudson, and B.T. Lahn Microcephalin a gene regulating brain size continues to evolve adaptively in humans Science 309 2005 1717 1720
58. Y. Feng, and C.A. Walsh Mitotic spindle regulation by Nde1 controls cerebral cortical size Neuron 44 2004 279 293 This article describes the ablation of Nde1, which results in the production of a small brain and neuronal migration defects. The cause of the small brain lies in reduced progenitor division and altered neuronal cell fates.
59. M. Trimborn, R. Richter, N. Sternberg, I. Gavvovidis, D. Schindler, A.P. Jackson, E.C. Prott, K. Sperling, G. Gillessen-Kaesbach, and H. Neitzel The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype Hum Mutat 26 2005 496
60. S.Y. Lin, R. Rai, K. Li, Z.X. Xu, and S.J. Elledge BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly Proc Natl Acad Sci U S A 102 2005 15105 15109