Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients

Neurogenetics

Volumn 5, Issue 2, 2004, Pages 83-93

  Couillard Despres, Sebastien ^a   Uyanik, Goekhan ^a   Ploetz, Sonja ^a   Karl, Claudia ^a   Koch, Hartmut ^b   Winkler, Juergen ^a   Aigner, Ludwig ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b St Marienhospital Vechta   (Germany)

Author keywords

Cell division; Double cortex syndrome; Neurogenesis; Neuronal migration; Neuronal precursor cells

Indexed keywords

DOUBLECORTIN;

AGYRIA; ANIMAL CELL; ARTICLE; CELL STRAIN COS7; CONTROLLED STUDY; GENE MUTATION; HETEROTOPIA; HUMAN; MICROTUBULE; MITOSIS; NERVE CELL; NERVOUS SYSTEM DEVELOPMENT; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STEM CELL;

ANIMALS; CELL MOVEMENT; CEREBRAL CORTEX; COS CELLS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MICROTUBULES; MITOSIS; NEURONS; NEUROPEPTIDES; PEDIGREE; PHENOTYPE;

ANIMALIA;

EID: 3042678169     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-004-0176-1     Document Type: Article

References (35)

1. Couillard-Despres S, Winkler J, Uyanik G, Aigner L (2001) Molecular mechanisms of neuronal migration disorders, quo vadis? Curr Mol Med 1:677-688
2. Kuzniecky RI (1996) Magnetic resonance imaging in cerebral developmental malformations and epilepsy. In: Cascino GD, and Jr CRJ (eds) Neuroimaging in epilepsy: principles and practice. Butterworth-Heinemann, Boston, pp 51-63
3. Barkovich AJ, Guerrini R, Battaglia G, Kalifa G, N'Guyen T, Parmeggiani A, Santucci M, Giovanardi-Rossi P, Granata T, D'Incerti L (1994) Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol 36:609-617
4. Kato M, Kanai M, Soma O, Takusa Y, Kimura T, Numakura C, Matsuki T, Nakamura S, Hayasaka K (2001) Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis. Ann Neurol 50:547-551
5. Aigner L, Uyanik G, Couillard-Despres S, Ploetz S, Wolff G, Morris-Rosendahl D, Martin P, Eckel U, Spranger S, Otte J, et al (2003) Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. Neurology 60:329-332
6. Poolos NP, Das S, Clark GD, Lardizabal D, Noebels JL, Wyllie E, Dobyns WB (2002) Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX. Neurology 58:1559-1562
7. Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA (2000) Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet 67:574-581
8. Francis F, Koulakoff A, Boucher D, Chafey P, Schaar B, Vinet MC, Friocourt G, McDonnell N, Reiner O, Kahn A, et al (1999) Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons. Neuron 23:247-256
9. Gleeson JG, Lin PT, Flanagan LA, Walsh CA (1999) Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron 23:257-271
10. Horesh D, Sapir T, Francis F, Wolf SG, Caspi M, Elbaum M, Chelly J, Reiner O (1999) Doublecortin, a stabilizer of microtubules. Hum Mol Genet 8:1599-1610
11. Yoshiura K, Noda Y, Kinoshita A, Niikawa N (2000) Colocalization of doublecortin with the microtubules: an ex vivo colocalization study of mutant doublecortin. J Neurobiol 43:132-139
12. Taylor KR, Holzer AK, Bazan JF, Walsh CA, Gleeson JG (2000) Patient mutations in doublecortin define a repeated tubulin-binding domain. J Biol Chem 275:34442-34450
13. Aigner L, Fluegel D, Dietrich J, Ploetz S, Winkler J (2000) Isolated lissencephaly sequence and double-cortex syndrome in a German family with a novel doublecortin mutation. Neuropediatrics 31:195-198
14. Gandy DK, Bunzow JR, Dorit RL (1999) PCR cloning of neural gene products. In: Crawley JN, Gerfen CR, Rogawski MA, Sibley DR, Skolnick P Wray S (eds) Current protocols in neuroscience. Wiley
15. Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Newborn SK, Dudlicek LL, May LF, Mills PL, Das S, et al (2000) The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet 9:3019-3028
16. Lewis SA, Ivanov IE, Lee GH, Cowan NJ (1989) Organization of microtubules in dendrites and axons is determined by a short hydrophobic zipper in microtubule-associated proteins MAP2 and tau. Nature 342:498-505
17. Kanai Y, Takemura R, Oshima T, Mori H, Ihara Y, Yanagisawa M, Masaki T, Hirokawa N (1989) Expression of multiple tau isoforms and microtubule bundle formation in fibroblasts transfected with a single tau cDNA. J Cell Biol 109:1173-1184
18. Kanai Y, Chen J, Hirokawa N (1992) Microtubule bundling by tau proteins in vivo: analysis of functional domains. EMBO J 11:3953-3961
19. Burgin KE, Ludin B, Ferralli J, Matus A (1994) Bundling of microtubules in transfected cells does not involve an autonomous dimerization site on the MAP2 molecule. Mol Biol Cell 5:511-517
20. Weisshaar B, Doll T, Matus A (1992) Reorganisation of the microtubular cytoskeleton by embryonic microtubule-associated protein 2 (MAP2c). Development 116:1151-1161
21. Portes V des, Francis F, Pinard JM, Desguerre I, Moutard ML, Snoeck I, Meiners LC, Capron F, Cusmai R, Ricci S, et al (1998) doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet 7:1063-1070
22. Demelas L, Serra G, Conti M, Achene A, Mastropaolo C, Matsumoto N, Dudlicek LL, Mills PL, Dobyns WB, Ledbetter DH, et al (2001) Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. Neurology 57:327-330
23. D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, et al (2002) Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain 125:2507-2522
24. Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, et al (2001) Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet 9:5-12
25. Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, et al (2000) Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol 47:265-269
26. Sapir T, Horesh D, Caspi M, Atlas R, Burgess HA, Wolf SG, Francis F, Chelly J, Elbaum M, Pietrokovski S, et al (2000) Doublecortin mutations cluster in evolutionarily conserved functional domains. Hum Mol Genet 9:703-712
27. Marsden KM, Doll T, Ferralli J, Botteri F, Matus A (1996) Transgenic expression of embryonic MAP2 in adult mouse brain: implications for neuronal polarization. J Neurosci 16:3265-3273
28. Sapir T, Elbaum M, Reiner O (1997) Reduction of microtubule catastrophe events by LIS1, platelet- activating factor acetylhydrolase subunit. EMBO J 16:6977-6884
29. Faulkner NE, Dujardin DL, Tai CY, Vaughan KT, O'Connell CB, Wang Y, Vallee RB (2000) A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function. Nat Cell Biol 2:784-791
30. Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, et al (1998) LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 7:2029-2037
31. Hirotsune S, Fleck MW, Gambello MJ, Bix GJ, Chen A, Clark GD, Ledbetter DH, McBain CJ, Wynshaw-Boris A (1998) Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. Nat Genet 19:333-339
32. Corbo JC, Deuel TA, Long JM, LaPorte P, Tsai E, Wynshaw-Boris A, Walsh CA (2002) Doublecortin is required in mice for lamination of the hippocampus but not the neocortex. J Neurosci 22:7548-7557
33. Caspi M, Atlas R, Kantor A, Sapir T, Reiner O (2000) Interaction between LIS1 and doublecortin, two lissencephaly gene products. Hum Mol Genet 9:2205-2213
34. Gonczy P, Bellanger JM, Kirkham M, Pozniakowski A, Baumer K, Phillips JB, Hyman AA (2001) zyg-8, a gene required for spindle positioning in C. elegans, encodes a doublecortin-related kinase that promotes microtubule assembly. Dev Cell 1:363-375
35. Brown J, Couillard-Despres S, Cooper-Kuhn CM, Winkler J, Aigner L, Kuhn HG (2003) Transient expression of doublecortin during adult neurogenesis. J Comp Neurol (in press)