Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice

Human Molecular Genetics

Volumn 13, Issue 20, 2004, Pages 2535-2543

  Serra, Heliane G ^a,b   Byam, Courtney E ^a,b   Lande, Jeffrey D ^b   Tousey, Susan K ^a,b   Zoghbi, Huda Y ^c   Orr, Harry T ^a,b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 1; DNA; GLUTAMIC ACID; MEMBRANE PROTEIN; POLYGLUTAMINE; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELL ACTIVITY; CEREBELLUM; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISEASE COURSE; DNA MICROARRAY; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE IDENTIFICATION; GENE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PURKINJE CELL; SIGNAL TRANSDUCTION; SPINOCEREBELLAR DEGENERATION; TIME; TRANSGENIC MOUSE;

ANIMALS; CARRIER PROTEINS; GENE EXPRESSION; GENE EXPRESSION PROFILING; GLUTAMIC ACID; MICE; MICE, TRANSGENIC; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PROTEIN ISOFORMS; PURKINJE CELLS; REPETITIVE SEQUENCES, AMINO ACID; RNA, MESSENGER; SIGNAL TRANSDUCTION; SPINOCEREBELLAR ATAXIAS;

MUS MUSCULUS;

EID: 19544374135     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh268     Document Type: Article

References (42)

1. Orr, H.T., Chung, M.Y., Banfi, S., Kwiatkowski, T.J., Jr, Servadio, A., Beaudet, A.L., McCall, A.E., Duvick, L.A., Ranum, L.P. and Zoghbi, H.Y. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat. Genet., 4, 221-226.
2. Zoghbi, H.Y. and Orr, H.T. (2000) Glutamine repeats and neurodegeneration. Ann. Rev. Neurosci., 23, 217-247.
3. Servadio, A., Koshy, B., Armstrong, D., Antalffy, B., Orr, H.T. and Zoghbi, H.Y. (1995) Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat. Genet., 10, 94-98.
4. Burright, E.N., Clark, H.B., Servadio, A., Matilla, T., Feddersen, R.M., Yunis, W.S., Duvick, L.A., Zoghbi, H.Y. and Orr, H.T. (1995) SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell, 82, 937-948.
5. Clark, H.B., Burright, E.N., Yunis, W.S., Larson, S., Wilcox, C., Hartman, B., Matilla, A., Zoghbi, H.Y. and Orr, H.T. (1997) Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. J. Neurosci., 17, 7385-7395.
6. Skinner, P.J., Vierra-Green, C.A., Clark, H.B., Zoghbi, H.Y. and Orr, H.T. (2001) Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice. Am. J. Pathol., 159, 905-913.
7. Klement, I.A., Skinner, P.J., Kaytor, M.D., Yi, H., Hersch, S.M., Clark, H.B., Zoghbi, H.Y. and Orr, H.T. (1998) Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell, 95, 41-53.
8. Lin, X., Antalffy, B., Kang, D., Orr, H.T. and Zoghbi, H.Y. (2000) Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat. Neurosci., 3, 157-163.
9. Fernandez-Funez, P., Nino-Rosales, M.L., de Gouyon, B., She, W.C., Luchak, J.M., Martinez, P., Turiegano, E., Benito, J., Capovilla, M., Skinner, P.J. et al. (2000) Identification of genes that modify ataxin-1-induced neurodegeneration. Nature, 408, 101-106.
10. Geschwind, D.H. (2000) Mice, microarrays, and the genetic diversity of the brain. Proc. Natl Acad. Sci. USA, 97, 10676-10678.
11. Gold, D.A., Baek, S.H., Schork, N.J., Rose, D.W., Larsen, D.D., Sachs, B.D., Rosenfeld, M.G. and Hamilton, B.A. (2003) RORalpha coordinates reciprocal signaling in cerebellar development through sonic hedgehog and calcium-dependent pathways. Neuron, 40, 1119-11131.
12. Shiraaishi, Y., Mizutani, A., Yuasa, S., Mikoshiba, K. and Furuichi, T. (2004) Differential expression of Homer family proteins in the developing mouse brain. J. Comp. Neurol., 473, 582-599.
13. Jackson, M., Song, W., Liu, M.Y., Jin, L., Dykes-Hoberg, M., Lin, C.I., Bowers, W.J., Federoff, H.J., Sternweis, P.C. and Rothstein, J.D. (2001) Modulation of the neuronal glutamate transporter EAAT4 by two interacting proteins. Nature, 410, 89-93.
14. Kato, K. (1990) Sequence of a novel carbonic anhydrase-related polypeptide and its exclusive presence in Purkinje cells. FEBS Lett., 271, 137-140.
15. Detre, J.A., Nairn, A.C., Aswad, D.W. and Greengard, P. (1984) Localization in mammalian brain of G-substrate, a specific substrate for guanosine 3′,5′-cyclic monophosphate-dependent protein kinase. J. Neurosci., 4, 2843-2849.
16. Ito, M. (2002) The molecular organization of cerebellar long-term depression. Nat. Rev. Neurosci., 3, 896-902.
17. Daniel, H., Levenes, C. and Crepel, F. (1998) Cellular mechanisms of cerebellar LTD. Trends Neurosci., 21, 401-407.
18. Tu, J.C., Xiao, B., Yuan, J.P., Lanahan, A.A., Leoffert, K., Li, M., Linden, D.J. and Worley, P.F. (1998) Homer binds a novel proline-rich motif and links group 1 metabotropic glutamate receptors with IP3 receptors. Neuron, 21, 717-726.
19. Xiao, B., Tu, J.C. and Worley, P.F. (2000) Homer: a link between neural activity and glutamate receptor function. Curr. Opin. Neurobiol., 10, 370-374.
20. Xiao, B., Tu, J.C., Petralia, R.S., Yuan, J.P., Doan, A., Breder, C.D., Ruggiero, A., Lanahan, A.A., Wenthold, R.J. and Worley, P.F. (1998) Homer regulates the association of group 1 metabotropic glutamate receptors with multivalent complexes of homer-related, synaptic proteins. Neuron, 21, 707-716.
21. Ango, F., Prezeau, L., Muller, T., Tu, J.C., Xiao, B., Worley, P.F., Pin, J.P., Bockaert, J. and Fagni, L. (2001) Agonist-independent activation of metabotropic glutamate receptors by the intracellular protein Homer. Nature, 411, 962-965.
22. Roche, K.W., Tu, J.C., Petralia, R.S., Xiao, B., Wenthold, R.J. and Worley, P.F. (1999) Homer 1b regulates the trafficking of group I metabotropic glutamate receptors. J. Biol. Chem., 274, 25953-25957.
23. Petralia, R.S., Wang, Y.X., Singh, S., Wu, C., Shi, L., Wei, J. and Wenthold, R.J. (1997) A monoclonal antibody shows discrete cellular and subcellular localizations of mGluR1 alpha metabotropic glutamate receptors. J. Chem. Neuroanat., 13, 77-93.
24. Brasnjo, G. and Otis, T.S. (2001) Neuronal glutamate transporters control activation of postsynaptic metabotropic glutamate receptors and influence cerebellar long-term depression. Neuron, 31, 607-616.
25. Selkirk, J.V., Naeve, G.S. and Foster, A.C. (2003) Blockade of excitatory amino acid transporters in the rat hippocampus results in enhanced activation of group I and group III metabotropic glutamate receptors. Neuropharmacology, 45, 885-894.
26. Furuichi, T., Yoshikawa, S., Miyawaki, A., Wada, K., Maeda, N. and Mikoshiba, K. (1989) Primary structure and functional expression of the inositol 1,4,5-trisphosphate-binding protein P400. Nature, 342, 32-38.
27. Berridge, M.J. (1993) Inositol trisphosphate and calcium signalling. Nature, 361, 315-325.
28. Inoue, T., Kato, K., Kohda, K. and Mikoshiba, K. (1998) Type 1 inositol 1,4,5-trisphosphate receptor is required for induction of long-term depression in cerebellar Purkinje neurons. J. Neurosci., 18, 5366-5373.
29. Ogura, H., Matsumoto, M. and Mikoshiba, K. (2001) Motor discoordination in mutant mice heterozygous for the type 1 inositol 1,4,5-trisphosphate receptor. Behav. Brain Res., 122, 215-219.
30. Hirota, J., Ando, H., Hamada, K. and Mikoshiba, K. (2003) Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1. Biochem. J., 372 435-441.
31. Khodakhah, K. and Ogden, D. (1993) Functional heterogeneity of calcium release by inositol trisphosphate in single Purkinje neurones, cultured cerebellar astrocytes, and peripheral tissues. Proc. Natl Acad. Sci. USA, 90, 4976-4980.
32. Hall, K.U., Collins, S.P., Gamm, D.M., Massa, E., DePaoli-Roach, A.A. and Uhler, M.D. (1999) Phosphorylation-dependent inhibition of protein phosphatase-1 by G-substrate. A Purkinje cell substrate of the cyclic GMP-dependent protein kinase. J. Biol. Chem. 274, 3485-3495.
33. Endo, S., Suzuki, M., Sumi, M., Nairn, A.C., Morita, R., Yamakawa, K., Greengard, P. and Ito, M. (1999) Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells. Proc. Natl Acad. Sci. USA, 96, 2467-2472.
34. Endo, S., Nairn, A.C., Greengard, P. and Ito, M. (2003) Thr123 of rat G-substrate contributes to its action as a protein phosphatase inhibitor. Neurosci. Res., 45, 79-89.
35. Wang, Y.T. and Linden, D.J. (2000) Expression of cerebellar long-term depression requires postsynaptic clathrin-mediated endocytosis. Neuron, 25, 635-647.
36. Kuroda, S., Schweighofer, N. and Kawato, M. (2001) Exploration of signal transduction pathways in cerebellar long-term depression by kinetic simulation. J. Neurosci., 21, 5693-5702.
37. Vig, P.J., Subramony, S.H., Burright, E.N., Fratkin, J.D., McDaniel, D.O., Desaiah, D. and Qin, Z. (1998) Reduced immunoreactivity to calcium-binding proteins in Purkinje cells precedes onset of ataxia in spinocerebellar ataxia-1 transgenic mice. Neurology, 50, 106-113.
38. Inoue, T., Lin, X., Kohlmeier, K.A., Orr, H.T., Zoghbi, H.Y. and Ross, W.N. (2001) Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in SCA1 transgenic mice. J. Neurophysiol., 85, 1750-1760.
39. Augustine, G.J., Santamaria, F. and Tanaka, K. (2003) Local calcium signaling in neurons. Neuron, 40, 331-346.
40. Finch, E.A. and Augustine, G.J. (1998) Local calcium signalling by inositol-1,4,5-trisphosphate in Purkinje cell dendrites. Nature, 396, 753-756.
41. Sabatini, B.L., Oertner, T.G. and Svoboda, K. (2002) The life cycle of Ca(2+) ions in dendritic spines. Neuron, 33, 439-452.
42. Yue, Z., Horton, A., Bravin, M., DeJager, P.L., Selimi, F. and Heintz, N. (2002) A novel protein complex linking the delta 2 glutamate receptor and autophagy: implications for neurodegeneration in lurcher mice. Neuron, 35, 921-933.