Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex

American Journal of Human Genetics

Volumn 65, Issue 1, 1999, Pages 19-24

  Fox, Jeremy W ^a   Walsh, Christopher A ^a  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; FILAMIN;

ACTIN FILAMENT; AGYRIA; BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN NERVE CELL; BRAIN VENTRICLE; CELL MIGRATION; CHROMOSOME XQ; CYTOSKELETON; GENE MUTATION; GENETIC LINKAGE; HETEROTOPIA; HUMAN; NONHUMAN; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; REVIEW; SIGNAL TRANSDUCTION;

EID: 0033365297     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302474     Document Type: Article

References (40)

1. Anton ES, Kreidberg JA, Rakic P (1999) Distinct functions of α3 and α(v) integrin receptors in neuronal migration and laminar organization of the cerebral cortex. Neuron 22: 277-289
2. Bellanger JM, Zugasti O, Lazaro JB, Diriong S, Lamb N, Sardet C, Debant A (1998) Role of the multifunctional Trio protein in the control of the Rac1 and RhoA gtpase signaling pathways. C R Seances Soc Biol Fil 192:367-374
3. Bix GJ, Clark GD (1998) Platelet-activating factor receptor stimulation disrupts neuronal migration in vitro. J Neurosci 18:307-318
4. Bugge TH, Xiao Q, Kombrinck KW, Flick MJ, Holmback K, Danton MJ, Colbert MC, et al (1996) Fatal embryonic bleeding events in mice lacking tissue factor, the cell-associated initiator of blood coagulation. Proc Natl Acad Sci USA 93:6258-6263
5. Chae T, Kwon YT, Bronson R, Dikkes P, Li E, Tsai LH (1997) Mice lacking p35, a neuronal specific activator of Cdk5, display cortical lamination defects, seizures, and adult lethality. Neuron 18:29-42
6. Cox D, Wessels D, Soll DR, Hartwig J, Condeelis J (1996) Re-expression of ABP-120 rescues cytoskeletal, motility, and phagocytosis defects of ABP-120-Dictyostelium mutants. Mol Biol Cell 7:803-823
7. Cunningham CC, Gorlin JB, Kwiatkowski DJ, Hartwig JH, Janmey PA, Byers HR, Stossel TP (1992) Actin-binding protein requirement for cortical stability and efficient locomotion. Science 255:325-327
8. D'Arcangelo G, Miao GG, Chen SC, Soares HD, Morgan JI, Curran T (1995) A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature 374: 719-723
9. des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrie A, Gelot A, et al (1998) A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 92: 51-61
10. Eksioglu YZ, Scheffer IE, Cardenas P, Knoll J, DiMario F, Ramsby G, Berg M, et al (1996) Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 16:77-87
11. Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, et al (1998) Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21:1315-1325
12. Gilmore EC, Oshima T, Goffinet AM, Kulkarni AB, Herrup K (1998) Cyclin-dependent kinase 5-deficient mice demonstrate novel developmental arrest in cerebral cortex. J Neurosci 18:6370-6377
13. Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, et al (1998) Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 92:63-72
14. Gleeson JG, Lin PT, Flanagan LA, Walsh CA. Doublecortin is a microtubule associated protein and is expressed widely by migrating neurons. Neuron (in press)
15. Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, et al (1999) Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol 45:146-153
16. Glogauer M, Arora P, Chou D, Janmey PA, Downey GP, McCulloch CA (1998) The role of actin-binding protein 280 in integrin-dependent mechanoprotection. J Biol Chem 273: 1689-1698
17. Gonzalez JL, Russo CJ, Goldowitz D, Sweet HO, Davisson MT, Walsh CA (1997) Birthdate and cell marker analysis of scrambler: a novel mutation affecting cortical development with a reeler-like phenotype. J Neurosci 17:9204-9211
18. Gorlin JB, Yamin R, Egan S, Stewart M, Stossel TP, Kwiatkowski DJ, Hartwig JH (1990) Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring. J Cell Biol 111:1089-1105
19. Hartwig JH, Stossel TP (1975) Isolation and properties of actin, myosin, and a new actin-binding protein in rabbit alveolar macrophages. J Biol Chem 250:5696-5705
20. Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K (1994) Miller-Dieker lissencephaly gene encodes a subunit of brain platelet- activating factor acetylhydrolase. Nature 370: 216-218
21. Howell BW, Gertler FB, Cooper JA (1997) Mouse disabled (mDab1): a Src binding protein implicated in neuronal development. EMBO J 16:121-132
22. Howell BW, Herrick TM, Cooper JA (1999) Reelin-induced tryosine phosphorylation of disabled-1 during neuronal positioning. Genes Dev 13:643-648
23. Letourneau PC, Shattuck TA (1989) Distribution and possible interactions of actin-associated proteins and cell adhesion molecules of nerve growth cones. Development 105: 505-519
24. Loo DT, Kanner SB, Aruffo A (1998) Filamin binds to the cytoplasmic domain of the β1-integrin: identification of amino acids responsible for this interaction. J Biol Chem 273:23304-23312
25. Meyer SC, Zuerbig S, Cunningham CC, Hartwig JH, Bissell T, Gardner K, Fox JE (1997) Identification of the region in actin-binding protein that binds to the cytoplasmic domain of glycoprotein IBα. J Biol Chem 272:2914-2919
26. Miyata T, Nakajima K, Aruga J, Takahashi S, Ikenaka K, Mikoshiba K, Ogawa M (1996) Distribution of a reeler gene-related antigen in the developing cerebellum: an immunohistochemical study with an allogeneic antibody CR-50 on normal and reeler mice. J Comp Neurol 372:215-228
27. Morris NR, Efimov VP, Xiang X (1998) Nuclear migration, nucleokinesis and lissencephaly. Trends Cell Biol 8:467-470
28. Nikolic M, Chou MM, Lu W, Mayer BJ, Tsai LH (1998) The p35/Cdk5 kinase is a neuron-specific Rac effector that inhibits Pak1 activity. Nature 395:194-198
29. Nurden AT, Dupuis D, Kunicki TJ, Caen JP (1981) Analysis of the glycoprotein and protein composition of Bernard-Soulier platelets by single and two-dimensional sodium dodecyl sulfate-polyacrylamide gel electrophoresis. J Clin Invest 67:1431-1440
30. Ott I, Fischer EG, Miyagi Y, Mueller BM, Ruf W (1998) A role for tissue factor in cell adhesion and migration mediated by interaction with actin-binding protein 280. J Cell Biol 140:1241-1253
31. Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, et al (1993) Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats. Nature 364:717-721
32. Rice DS, Sheldon M, D'Arcangelo G, Nakajima K, Goldowitz D, Curran T (1998) Disabled-1 acts downstream of Reelin in a signaling pathway that controls laminar organization in the mammalian brain. Development 125:3719-3729
33. Rivas RJ, Hatten ME (1995) Motility and cytoskeletal organization of migrating cerebellar granule neurons. J Neurosci 15:981-989
34. Sapir T, Elbaum M, Reiner O (1997) Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit. EMBO J 16:6977-6984
35. Saxe CL (1999) Learning from the slime mold: Dictyostilium and human disease. Am J Hum Genet 65:25-30 (in this issue)
36. Sharma CP, Ezzell RM, Arnaout MA (1995) Direct interaction of filamin (ABP-280) with the β 2-integrin subunit CD18. J Immunol 154:3461-3470
37. Sheldon M, Rice DS, D'Arcangelo G, Yoneshima H, Nakajima K, Mikoshiba K, Howell BW, et al (1997) Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice. Nature 389:730-733
38. Stendahl OI, Hartwig JH, Brotschi EA, Stossel TP (1980) Distribution of actin-binding protein and myosin in macrophages during spreading and phagocytosis. J Cell Biol 84: 215-224
39. Ware ML, Fox JW, Gonzalez JL, Davis NM, Lambert de Rouvroit C, Russo CJ, Chua SC Jr, et al (1997) Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse. Neuron 19:239-249
40. Zhang W, Han SW, McKeel DW, Goate A, Wu JY (1998) Interaction of presenilins with the filamin family of actin-binding proteins. J Neurosci 18:914-922