Blue cheese mutations define a novel, conserved gene involved in progressive neural degeneration

Journal of Neuroscience

Volumn 23, Issue 4, 2003, Pages 1254-1264

  Finley, Kim D ^a   Edeen, Philip T ^a   Cumming, Robert C ^a   Mardahl Dumesnil, Michelle D ^b   Taylor, Barbara J ^c   Rodriguez, Maria H ^a   Hwang, Calvin E ^a   Benedetti, Michael ^a   McKeown, Michael ^a,d  

^a SALK INSTITUTE FOR BIOLOGICAL STUDIES   (United States)

^b SAN DIEGO STATE UNIVERSITY   (United States)

^c OREGON STATE UNIVERSITY   (United States)

^d BROWN UNIVERSITY   (United States)

Author keywords

Apoptosis; APPL; Drosophila; Neurodegeneration; Protein aggregates; Ubiquitin

Indexed keywords

MUTANT PROTEIN; NERVE PROTEIN; UBIQUITIN;

ANIMAL TISSUE; ARTICLE; BCHS GENE; CENTRAL NERVOUS SYSTEM; DEGENERATIVE DISEASE; DROSOPHILA; GENE; GENE MUTATION; GENETIC CONSERVATION; GENOME; HUMAN; NERVE CELL DEGENERATION; NERVE CELL NECROSIS; NEUROPIL; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN MOTIF; PROTEIN PROCESSING; PROTEIN TRANSPORT;

EID: 0037442507     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/jneurosci.23-04-01254.2003     Document Type: Article

References (63)

1. Abrams JM (1999) An emerging blueprint for apoptosis in Drosophila. Trends Cell Biol 9:435-440.
2. Alloway PG, Howard L, Dolph PJ (2000) The formation of stable rhodopsin-arrestin complexes induces apoptosis and photoreceptor cell degeneration. Neuron 28:129-138.
3. Auluck PK, Chan HY, Trojanowski JQ, Lee VM, Bonini NM (2002) Chaperone suppression of α-synuclein toxicity in a Drosophila model for Parkinson's disease. Science 295:865-868.
4. Bacskai BJ, Kajdasz ST, Christie RH, Carter C, Games D, Seubert P, Schenk D, Hyman BT (2001) Imaging of amyloid-β deposits in brains of living mice permits direct observation of clearance of plaques with immunotherapy. Nat Med 7:369-372.
5. Barbosa MD, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, Brandt SJ, Chotai D, Hodgman C, Solari RC, Lovett M, Kingsmore SF (1996) Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382:262-265.
6. Bence NF, Sampat RM, Kopito RR (2001) Impairment of the ubiquitin-proteasome system by protein aggregation. Science 292:1552-1555.
7. Buchanan RL, Benzer S (1993) Defective glia in the Drosophila brain degeneration mutant drop-dead. Neuron 10:839-850.
8. Burd CG, Emr SD (1998) Phosphatidylinositol 3-phosphate signaling mediated by specific binding to RING FYVE domains. Mol Cell 2:157-162.
9. Cataldo AM, Hamilton DJ, Barnett JL, Paskevich PA, Nixon RA (1996) Properties of the endosomal-lysosomal system in the human CNS: disturbances mark most neurons in populations at risk to degenerate in Alzheimer's disease. J Neurosci 16:186-199.
10. Chan HY, Bonini NM (2000) Drosophila models of human neurodegenerative disease. Cell Death Differ 7:1075-1080.
11. Cormont M, Mari M, Galmiche A, Hofman P, Le Marchand-Brustel Y (2001) A FYVE-finger-containing protein, Rabip4, is a Rab4 effector involved in early endosomal traffic. Proc Natl Acad Sci USA 98:1637-1642.
12. Corvera S, D'Arrigo A, Stenmark H (1999) Phosphoinositides in membrane traffic. Curr Opin Cell Biol 11:460-465.
13. Davidson FF, Steller H (1998) Blocking apoptosis prevents blindness in Drosophila retinal degeneration mutants. Nature 391:587-591.
14. Ding Q, Lewis JJ, Strum KM, Dimayuga E, Bruce-Keller AJ, Dunn JC, Keller JN (2002) Polyglutamine expansion, protein aggregation, proteasome activity, and neural survival. J Biol Chem 277:13935-13942.
15. Faigle W, Raposo G, Tenza D, Pinet V, Vogt AB, Kropshofer H, Fischer A, de Saint-Basile G, Amigorena S (1998) Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome. J Cell Biol 141:1121-1134.
16. Feany MB, Bender W (2000) A Drosophila model of Parkinson's disease. Nature 204:394-398.
17. Fernandez-Funez P, Nino-Rosales ML, de Gouyon B, She WC, Luchak JM, Martinez P, Turiegano E, Benito J, Capovilla M, Skinner PJ, McCall A, Canal I, Orr HT, Zoghbi HY, Botas J (2000) Identification of genes that modify ataxin-1-induced neurodegeneration. Nature 408:101-106.
18. Finley KD, Edeen PT, Foss M, Gross E, Ghbeish N, Palmer RH, Taylor BJ, McKeown M (1998) dissatisfaction encodes a Tailless-like nuclear receptor expressed in a subset of CNS neurons controlling Drosophila sexual behavior. Neuron 21:1363-1374.
19. Gandy S, Petanceska S (2000) Regulation of Alzheimer β-amyloid precursor trafficking and metabolism. Biochim Biophys Acta 1502:44-52.
20. Gunawardena S, Goldstein LS (2001) Disruption of axonal transport and neuronal viability by amyloid precursor protein mutations in Drosophila. Neuron 32:389-401.
21. Hay BA, Maile R, Rubin GM (1997) P-element insertion-dependent gene activation in the Drosophila eye. Proc Natl Acad Sci USA 94:5195-5200.
22. Hicke L (2001) A new ticket for entry into budding vesicles - ubiquitin. Cell 106:527-530.
23. Jacobson MD (1998) Anti-apoptosis therapy: a way of treating neural degeneration? Curr Biol 8:R418-R421.
24. Jo E, McLaurin J, Yip CM, St. George-Hyslop P, Fraser PE (2000) α-Synuclein membrane interactions and lipid specificity. J Biol Chem 275:34328-34334.
25. Johnston JA, Ward CL, Kopito RR (1998) Aggresomes: a cellular response to misfolded proteins. J Cell Biol 143:1883-1898.
26. Kazantsev A, Walker HA, Slepko N, Bear JE, Preisinger E, Steffan JS, Zhu YZ, Gertler FB, Housman DE, Marsh JL, Thompson LM (2002) A bivalent huntingtin binding peptide suppresses polyglutamine aggregation and pathogenesis in Drosophila. Nat Genet 30:367-376.
27. Kazemi-Esfarjani P, Benzer S (2000) Genetic suppression of polyglutamine toxicity in Drosophila. Science 287:1837-1840.
28. Kiselev A, Socolich M, Vinos J, Hardy RW, Zuker CS, Ranganathan R (2000) A molecular pathway for light-dependent photoreceptor apoptosis in Drosophila. Neuron 28:139-152.
29. Kraut R, Menon K, Zinn K (2001) A gain-of-function screen for genes controlling motor axon guidance and synaptogenesis in Drosophila. Curr Biol 11:417-430.
30. Kretzschmar D, Hasan G, Sharma S, Heisenberg M, Benzer S (1997) The swiss cheese mutant causes glial hyperwrapping and brain degeneration in Drosophila. J Neurosci 17:7425-7432.
31. Kutateladze TG, Ogburn KD, Watson WT, de Beer T, Emr SD, Burd CG, Overduin M (1999) Phosphatidylinositol 3-phosphate recognition by the FYVE domain. Mol Cell 3:805-811.
32. Lai EC, Deblandre GA, Kintner C, Rubin GM (2001) Drosophila neuralized is a ubiquitin ligase that promotes the internalization and degradation of delta. Dev Cell 1:783-794.
33. Lloyd TE, Atkinson R, Wu MN, Zhou Y, Pennetta G, Bellen HJ (2002) Hrs regulates endosome membrane invagination and tyrosine kinase receptor signaling in Drosophila. Cell 108:261-269.
34. Marsh JL, Walker H, Theisen H, Zhu YZ, Fielder T, Purcell J, Thompson LM (2000) Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila. Hum Mol Genet 9:13-25.
35. Min KT, Benzer S (1997) spongecake and eggroll: two hereditary diseases in Drosophila resemble patterns of human brain degeneration. Curr Biol 7:885-888.
36. Min KT, Benzer S (1999) Preventing neurodegeneration in the Drosophila mutant bubblegum. Science 284:1985-1988.
37. Mohtashami M, Stewart BA, Boulianne GL, Trimble WS (2001) Analysis of the mutant Drosophila N-ethylmaleimide sensitive fusion-1 protein in comatose reveals molecular correlates of the behavioural paralysis. J Neurochem 77:1407-1417.
38. Muqit MM, Feany MB (2002) Modeling neurodegenerative diseases in Drosophila: a fruitful approach? Nat Rev Neurosci 3:237-243.
39. Mutsuddi M, Nambu JR (1998) Neural disease: Drosophila degenerates for a good cause. Curr Biol 8:R809-R811.
40. Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault Jr BJ, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ (1996) Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 14:307-311.
41. Nakano Y, Fujitani K, Kurihara J, Ragan J, Usui-Aoki K, Shimoda L, Lukacsovich T, Suzuki K, Sezaki M, Sano Y, Ueda R, Awano W, Kaneda M, Umeda M, Yamamoto D (2001) Mutations in the novel membrane protein Spinster interfere with programmed cell death and cause neural degeneration in Drosophila melanogaster. Mol Cell Biol 21:3775-3788.
42. Neer EJ, Schmidt CJ, Nambudripad R, Smith TF (1994) The ancient regulatory-protein family of WD-repeat proteins. Nature 371:297-300.
43. Ostrerova-Golts N, Petrucelli L, Hardy J, Lee JM, Farer M, Wolozin B (2000) The A53T α-synuclein mutation increases iron-dependent aggregation and toxicity. J Neurosci 20:6048-6054.
44. Phillips JP, Campbell SD, Michaud D, Charbonneau M, Hilliker AJ (1989) Null mutation of copper/zinc superoxide dismutase in Drosophila confers hypersensitivity to paraquat and reduced longevity. Proc Natl Acad Sci USA 86:2761-2765.
45. Pickart CM (2001) Ubiquitin enters the new millennium. Mol Cell 8:499-504.
46. Reiter LT, Potocki L, Chien S, Gribskov M, Bier E (2001) A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster. Genome Res 11:1114-1125.
47. Rio DC (1991) Regulation of Drosophila P-element transposition. Trends Genet 7:282-287.
48. Robinow S, White K (1988) The locus elav of Drosophila melanogaster is expressed in neurons at all developmental stages. Dev Biol 126:294-303.
49. Rorth P (1996) A modular misexpression screen in Drosophila detecting tissue-specific phenotypes. Proc Natl Acad Sci USA 93:12418-12422.
50. Seugnet L, Simpson P, Haenlin M (1997) Requirement for dynamin during Notch signaling in Drosophila neurogenesis. Dev Biol 192:585-598.
51. Sharon R, Goldberg MS, Bar-Josef I, Betensky RA, Shen J, Selkoe DJ (2001) α-Synuclein occurs in lipid-rich high molecular weight complexes, binds fatty acids, and shows homology to the fatty acid-binding proteins. Proc Natl Acad Sci USA 98:9110-9115.
52. Sherman MY, Goldberg AL (2001) Cellular defenses against unfolded proteins: a cell biologist thinks about neurodegenerative diseases. Neuron 29:15-32.
53. Shoelson SE (1997) SH2 and PTB domain interactions in tyrosine kinase signal transduction. Curr Opin Chem Biol 1:227-234.
54. Steffan JS, Bodai L, Pallos J, Poelman M, McCampbell A, Apostol BL, Kazantsev A, Schmidt E, Zhu YZ, Greenwald M, Kurokawa R, Housman DE, Jackson GR, Marsh JL, Thompson LM (2001) Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. Nature 413:739-743.
55. Stenmark H, Aasland R (1999) FYVE-finger proteins - effectors of an inositol lipid. J Cell Sci 112:4175-4183.
56. Suhr ST, Senut MC, Whitelegge JP, Faull KF, Cuizon DB, Gage FH (2001) Identities of sequestered proteins in aggregates from cells with induced polyglutamine expression. J Cell Biol 153:283-294.
57. Tchernev VT, Mansfield TA, Giot L, Kumar AM, Nandabalan K, Li Y, Mishra VS, Detter JC, Rothberg JM, Wallace MR, Southwick FS, Kingsmore SF (2002) The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. Mol Med 8:56-64.
58. Torroja L, Luo L, White K (1996) APPL, the Drosophila member of the APP family, exhibits differential trafficking and processing in CNS neurons. J Neurosci 16:4638-4650.
59. Waelter S, Scherzinger E, Hasenbank R, Nordhoff E, Lurz R, Goehler H, Gauss C, Sathasivam K, Bates GP, Lehrach H, Wanker EE (2001) The huntingtin interacting protein HIP1 is a clathrin and α-adaptin-binding protein involved in receptor-mediated endocytosis. Hum Mol Genet 10:1807-1817.
60. Warrick JM, Chan HY, Gray-Board GL, Chai Y, Paulson HL, Bonini NM (1999) Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70. Nat Genet 23:425-428.
61. Wittmann CW, Wszolek MF, Shulman JM, Salvaterra PM, Lewis J, Hutton M, Feany MB (2001) Tauopathy in Drosophila: neurodegeneration without neurofibrillary tangles. Science 293:711-714.
62. Wurmser AE, Gary JD, Emr SD (1999) Phosphoinositide 3-kinases and their FYVE domain-containing effectors as regulators ofvacuolar/lysosomal membrane trafficking pathways. J Biol Chem 274:9129-9132.
63. Xiong WC, Montell C (1995) Defective glia induce neuronal apoptosis in the repo visual system of Drosophila. Neuron 14:581-590.