The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function

Current Biology

Volumn 14, Issue 13, 2004, Pages 1135-1147

  Trotta, Nick ^a   Orso, Genny ^b   Rossetto, Maria Giovanna ^c   Daga, Andrea ^b,c   Broadie, Kendal ^a  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF PADOVA   (Italy)

^c SCIENTIFIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PRIMER DNA;

ANIMAL; ARTICLE; DISEASE MODEL; DROSOPHILA; ELECTROPHYSIOLOGY; GENE EXPRESSION REGULATION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IMMUNOHISTOCHEMISTRY; METABOLISM; MICROTUBULE; NEUROMUSCULAR SYNAPSE; PHYSIOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA INTERFERENCE; SYNAPSE; TRANSGENIC ANIMAL;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; DISEASE MODELS, ANIMAL; DNA PRIMERS; DROSOPHILA; ELECTROPHYSIOLOGY; GENE EXPRESSION REGULATION; HUMANS; IMMUNOHISTOCHEMISTRY; MICROTUBULES; NEUROMUSCULAR JUNCTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA INTERFERENCE; SPASTIC PARAPLEGIA, HEREDITARY; SYNAPSES;

ANIMALIA;

EID: 3142647116     PISSN: 09609822     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cub.2004.06.058     Document Type: Article

References (38)

1. Reid E. Science in motion. common molecular pathological themes emerge in the hereditary spastic paraplegias J. Med. Genet. 40:2003;81-86
2. Jouet M., Rsoenthal A., Armstrong G., MacFarlane J., Stenson R., Paterson J., Metxenberg A. X-linked hydrocephalus result from mutations in the L1 gene. Nat. Genet. 7:1994;402-407
3. Suagier-Veber P., Munnich A., Bonneau D., Rozet J.M., LeMerrer M., Gil R., Boespflug-Tanguy O. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat. Genet. 6:1994;257-262
4. Reid E., Kloos M., Ahley-Koch A., Hughes L., Bevan S., Svenson I.K., Lennon G., Graham F., Gaskell P.C., Dearlove A., et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am. J. Hum. Genet. 71:2002;1189-1194
5. Fonknechten N., Mavel D., Byrne P., Davpome C.S., Cruaud C., Boentsch D., Samson D., Coutinho P., Hutchinson M., McMonagle P., et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum. Mol. Genet. 9:2000;637-644
6. Hazan J., Fonknechten N., Mavel D., Paternotte C., Samson D., Artiguenave F., Davoine C.S., Cruaud C., Durr A., Wincker P., et al. Spastin, a new AAA protein, is latered in the most frequent form of autosomal dominant spastic paraplegia. Nat. Genet. 23:1999;296-303
7. Ciccarelli F.D., Proukakis C., Patel H., Cross H., Azam S., Patton M.A., Bork P., Crosby A.H. The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics. 81:2003;437-441
8. Zhao X., Alvarado D., Rainier S., Lemons R., Hedera P., Weber C.H., Tukel T., Apak M., Heiman-Patterson T., Ming L., et al. Mutations in a newly identified GTPase cause autosomal dominant hereditary spastic paraparesis. Nat. Genet. 29:2001;326-331
9. DeMichele G., De Fusco M., Cvalvani F., Filla A., Marconi R., Volpe G., Monticelli A., Ballabio A., Casari G., Cocozza S. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am. J. Hum. Genet. 63:1998;135-139
10. Casari G., De Fusco M., Ciarmatori S., Zeviani M., Mora M., Fernandez P., De Michele G., Filla A., Cocozza S., Marconi R., et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a neuclear-encoded mitochondrial metalloprotease. Cell. 93:1998;973-983
11. Patel H., Cross H., Proukakis C., Ershberver R., Bork P., Ciccarelli F.D., Patton M.A., McKusick V.A., Crosby A.H. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat. Genet. 31:2002;347-348
12. Errico A., Ballabio A., Rugarli E.I. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum. Mol. Genet. 11:2002;153-163
13. Zakharenko S., Popov S. Dynamics of axonal microtubules regulate the topology of new memebrane insertion into the growing neurites. J. Cell. Biol. 143:1998;1077-1086
14. Zhang Y.Q., Bailey A.M., Matthies H.J.G., Renden R.B., Smith M.A., Speese S.D., Rubin G.M., Broadie K. Drosophila fragile x-related gene regulates the MAP1B homolog futsch to control synaptic structure and function. Cell. 107:2001;591-603
15. Chuckowree J.A., Vickers J.C. Cytoskeletal and morphological alterations underlying axonal sproutin after localized transection of cortical neuron axons in vitro. J. Neurosci. 23:2003;3715-3725
16. Hummel T., Krukkert K., Roos J., Davis G., Klambt C. Drosophila Futsch/22C10 is a MAP1B-like protein required for dendritic and axonal development. Neuron. 26:2000;357-370
17. Roos J., Hummel T., Ng N., Klambt C., Davis G.W. Drosophila Futsch regulates synaptic microtubule organization and is necessary for synaptic growth. Neuron. 26:2000;371-382
18. Pennetta G., Hiesinger P., Fabian-Fine R., Meinertzhagen I., Bellen H. Drosophila VAP-33A directs bouton formation at nueormuscular junctions in a dosage-dependent manner. Neuron. 35:2002;291-306
19. Whatley V.J., Harris R.A. The cytoskeleton and neurotransmitter receptors. Int. Rev. Neurobiol. 39:1996;113-143
20. Phillips W.D., Froehner S.C. GABARAP and GABA(A) receptor clustering. Neuron. 33:2002;4-6
21. Washbourne P., Bennet J.E., McAllister A.K. Rapid recruitment of NMDA receptor transport packets to nascent synapses. Nat. Neurosci. 5:2002;751-759
22. Martin M.A.E., Hurd D.D., Saxton W.M. Kinesins in the nervous system. Cell. Mol. Life Sci. 56:1999;200-216
23. Kuromi H., Kidokoro Y. Two distinct pools of synaptic vesicles in single presynaptic boutons in a temperature-sensitive Drosophila mutant, shibire. Neuron. 20:1998;917-925
24. Kammermeier L., Spring J., Stierwald M., Burgunder J.M., Reichert H. Identification of the Drosophila homolog of the human spastin gene. Dev. Genes Evol. 213:2003;412-415
25. Andrews H.K., Zhang Y.Q., Trotta N., Broadie K. Drosophila sec10 is required for hormone secretion but not general exocytosis for neurotransmission. Traffic. 12:2002;906-921
26. Brand A.H., Perrimon N. Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development. 118:1993;401-415
27. Charvin D., Cifuentes-Diaz C., Fonknechten N., Joshi V., Hazan J., Melki J., Betuing S. Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Hum. Mol. Genet. 12:2003;71-78
28. Bonsch D., Schwindt A., Navratil P., Palm D., Neumann C., Kilmpe S., Schickel J., Hazan J., Weiler C., Deufel T., et al. Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depends on the type of mutation in the spastin gene. J. Neurol. Neurosurg. Psychiatry. 74:2003;1109-1112
29. Stewart B.A., Schuster C.M., Goodman C.S., Atwood H.L. Homeostasis of synaptic transmission in Drosophila with genetically altered nerve terminal morphology. J. Neurosci. 16:1996;3877-3886
30. Rohrbough J., Pinto S., Mihalek R.M., Tully T., Broadie K. latheo, a Drosophila gene involved in learning, regulates functional synaptic plasticity. Neuron. 23:1999;55-70
31. Rohrbough J., Grotewiel M.S., Davis R.L., Broadie K. Integrin-mediated regulation of synaptic morphology, transmission and plasticity. J. Neurosci. 20:2000;6868-6878
32. Hartman J.J., Mahr J., McNally K., Okawa K., Iwamatsu A., Thomas S., Cheesman S., Heuser J., Vale R.D., McNally F.J. Katanin, a microtubule-severing protein is a novel AAA ATPase that targets to the centrosome using a WD40-containing subunit. Cell. 93:1998;277-287
33. Hubbert C., Guardiola A., Shao R., Kawaguchi Y., Ito A., Nixon A., Yoshida M., Wang X.F., Yao T.P. HDAC6 is a microtubule associated deacetylase. Nature. 417:2002;455-458
34. Zhang Y., Li N., Caron C., Matthias G., Hess D., Khochbin S., Matthias P. HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo. EMBO J. 22:2003;1168-1179
35. Speese S.D., Trotta N., Rodesch C.K., Aravamudan B., Broadie K. The ubiquitin proteasome system acutely regulates presynaptic protein turnover and synaptic efficacy. Curr. Biol. 13:2003;899-910
36. Kalidas S., Smith D.P. Novel genomic cDNA hybrids produce effective RNA interference in adult Drosophila. Neuron. 33:2002;177-184
37. Schuster C.M., Davis G.W., Fetter R.D., Goodman C.S. Genetic dissection of structural and functional components of synaptic plasticity. I. Fasciclin II controls synaptic stabilization and growth. Neuron. 17:1996;641-654
38. Schuster C.M., Davis G.W., Fetter R.D., Goodman C.S. Genetic dissection of structural and functional components of synaptic plasticity. II. Fasciclin II controls presynaptic structural plasticity. Neuron. 17:1996;655-667