The vibrator mutation causes neurodegeneration via reduced expression of PITPα: Positional complementation cloning and extragenic suppression

Neuron

Volumn 18, Issue 5, 1997, Pages 711-722

  Hamilton, Bruce A ^a   Smith, Desmond J ^b   Mueller, Kenneth L ^a   Kerrebrock, Anne W ^a   Bronson, Roderick T ^c,g   Van Berkel, Victor ^a,e   Daly, Mark J ^a   Kruglyak, Leonid ^a   Reeve, Mary Pat ^d   Nemhauser, Jennifer L ^a,f   Hawkins, Trevor L ^d   Rubin, Edward M ^b   Lander, Eric S ^a,d  

^a WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^b LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^c TUFTS UNIVERSITY   (United States)

^d MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g JACKSON LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; BRAIN STEM; CHROMOSOME 19; CHROMOSOME ANALYSIS; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; MOLECULAR CLONING; MOUSE; NERVE DEGENERATION; NEUROFILAMENT; NONHUMAN; PRIORITY JOURNAL; RETROPOSON; SPINAL CORD; SUPPRESSOR GENE;

EID: 0031006852     PISSN: 08966273     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-6273(00)80312-8     Document Type: Article

References (49)

1. Adachi, M., Watanabe-Fukunaga, R., and Nagata, S.(1993). Aberrant transcription caused by the insertion of an early transposable element in an intron of the Fas antigen gene of lpr mice. Proc. Natl. Acad. Sci. USA 90, 1756-1760.
2. Altschul, S.F., Gish, W., Miller, W., Myers, E.W., and Lipman, D.J. (1990). Basic local alignment search tool. J. Mol. Biol. 215, 403-410.
3. Aqua, M.S., Bachman, N.J., Lomax, M.I., and Grossman, L.I. (1991). Characterization and expression of a cDNA specifying subunit VIIc of bovine cytochrome c oxidase. Gene 104, 211-217.
4. Bankaitis, V.A., Malehorn, D.E., Emr, S.D., and Greene, R. (1989). The Saccharomyces cerevisiae SEC14 gene encodes a cytosolic factor that is required for transport of secretory proteins from the yeast Golgi complex. J. Cell Biol. 108, 1271-1281.
5. Bankaitis, V.A., Aitken, J.R., Cleves, A.E., and Dowhan, W. (1990). An essential role for a phospholipid transfer protein in yeast Golgi function. Nature 347, 561-562.
6. Bloomquist, B., Shortridge, R., Schneuwly, S., Perdew, M., Montell, C., Steller, H., Rubin, G., and Pak, W. (1988). Isolation of a putative phospholipase C gene of Drosophila, norpA, and its role in phototransduction. Cell 54, 723-733.
7. Bradford, M .M. (1976). A rapid and sensitive method for the quantitation of microgram quantitites of protein utilizing the principle of protein dye binding. Anal. Biochem. 72, 248-254.
8. Campuzano, V., Montermini, L., Molto, M.D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, C.A., Flizares, J., Koutnikova, H., Bidichandani, S.I., Gellera, C., Brice, A., Trouillas, P., DeMichelle, G., Filla, A., DeFrutos, R., Palau, F., Patel, P.I., DiDonato, S., Mandel, J.-L, Cocozza, S., Koenig, M., and Pandolfo, M. (1996). Friedreich's ataxia: autosomal recessive disease by an intronic GAA triplet repeat expansion. Science 271, 1423-1427.
9. Carvajal, J.J., Pook, M.A., dosSantos, M., Doudney, K., Hillermann, R., Minogue, S., Williamson, R., Hsuan, J.J., and Chamberlain, S. (1996). The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase. Nature Genet. 14, 157-162.
10. Colley, N.J., Cassill, J.A., Baker, E.K., and Zuker, C.S. (1995). Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration. Proc. Natl. Acad. Sci. USA 92, 3070-3074.
11. Cook, S.A., Johnson, K.R., Bronson, R.T., and Davisson, M.T. (1995). Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration. Mamm. Genome 6, 187-191.
12. Cossée, M., Campuzano, V., Koutnikova, H., Fischbeck, K., Mandel, J.-L., Koenig, M., Bidichandani, S.I., Patel, P.I., Molto, M.D., Cañizares, J., De Frutos, R., Pianese, L., Cavalcanti, F., Monticelli, A., Cocozza, S., Montermini, L., and Pandolfo, M. (1997). Frataxin, and not a phosphatidylinositol-4-phosphate-5-kinase, is defective in Friedreich ataxia. Nature Genet. 15, 337-338.
13. 2. Curr. Biol. 5, 775-783.
14. De Camilli, P., Emr, S.D., McPherson, P.S., and Novick, P. (1996). Phosphoinositides as regulators in membrane traffic. Science 271, 1533-1539.
15. de Waegh, S.M., Lee, V.M.-Y., and Brady, ST. (1992). Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells. Cell 68, 451-463.
16. Dietrich, W.F., Miller, J., Steen, R., Merchant, M.A., Damron-Boles, D., Husain, Z., Dredge, R., Daly, M.J., Ingalls, K.A., O'Connor, T.J., Evans, C.A., De Angelis, M.M., Levinson, D.M., Kruglyak, L., Goodman, N., Copeland, N.G., Jenkins, N.A., Hawkins, T.L., Stein, L., Page, D.C., and Lander, E.S. (1996). A comprehensive genetic map of the mouse genome. Nature 380, 149-152.
17. Geli, M.I., and Riezman, H. (1996). Role of type I myosins in receptor-mediated endocytosis in yeast. Science 272, 533-535.
18. Hagg, T., Quon, D., Higaki, J., and Varon, S. (1992). Ciliary neurotrophic factor prevents neuronal degeneration and promotes low affinity NGF receptor expression in the adult rat CNS. Neuron 8, 145-158.
19. Harris, W.A., and Stark, W.S. (1977). Hereditary retinal degeneration in Drosophila melanogaster: a mutant defect associated with the phototransduction process. J. Gen. Physiol. 69, 261-291.
20. Hawley, R.G., Shulman, M.J., Murialdo, H., Gibson, D.M., and Hozumi, N. (1982). Mutant immunoglobulin genes have repetitive DNA elements inserted into their intervening sequences. Proc. Natl. Acad. Sci. USA 79, 7425-7429.
21. Hay, J.C., and Martin, T.F. (1992). Resolution of regulated secretion into sequential MgATP-dependent and calcium-dependent stages mediated by distinct cytosolic proteins. J. Cell Biol. 119, 139-151.
22. Hay, J.C., and Martin, T.F. (1993). Phosphatidylinositol transfer protein required for ATP-dependent priming of Ca(2+)-activated secretion. Nature 366, 572-575.
23. Jenkins, N.A., Copeland, N.G., Taylor, B.A., and Lee, B.K. (1981). Dilute (d) coat color mutation of DBA/2J mice is associated with the site of integration of an ectopic MuLV genome. Nature 293, 370-374.
24. Kauffmann-Zeh, A., Thomas, G.M., Ball, A., Prosser, S., Cunningham, E., Cockcroft, S., and Hsuan, J.J. (1995). Requirement for phosphatidylinositol transfer protein in epidermal growth factor signaling. Science 268, 1188-1190.
25. Kuff, E.L., and Lueders, K.K. (1988). The intracisternal A-particle gene family: structure and functional aspects. Adv. Cancer Res. 51, 183-276.
26. Kusumi, K., Smith, J.S., Segre, J.A., Koos, D.S., and Lander, E.S. (1993). Construction of a large-insert yeast artificial chromosome library of the mouse genome. Mamm. Genome 4, 391-392.
27. Lander, E.S., and Botstein, D. (1989). Mapping Mendelian factors underlying quantitative traits using RFLP linkage maps. Genetics 121, 185-199.
28. Lander, E., and Kruglyak, L. (1995). Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nature Genet. 11, 241-247.
29. Lee, Y.-J., Shah, S., Suzuki, E., Zars, T., O'Day, P.M., and Hyde, D.R. (1994). The Drosophila dgq gene encodes a G alpha protein that mediates phototransduction. Neuron 13, 1143-1157.
30. Lemarche, J., Luneau, C., and Lemieux, B. (1982). Ultrastructural observations on spinal ganglion biopsy in Friedreich's ataxia: a preliminary report. Can. J. Neurol. Sci. 9, 137-139.
31. Liscovitch, M., and Cantley, L.C. (1995). Signal transduction and membrane traffic: the PITP/phosphoinositide connection. Cell 81, 659-662.
32. Novick, P., Field, C., and Schekman, R. (1980). Identification of 23 complementation groups required for post-translational events in the yeast secretory pathway. Cell 21, 205-215.
33. Ohara, O., Gahara, Y., Miyake, T., Teraoke, H., and Kitamura, T. (1993). Neurofilament deficiency in Quail caused by nonsense mutation in neurofilament-L gene. J. Cell Biol. 121, 387-395.
34. Ohashi, M., Jan de Vries, K., Frank, R., Snoek, G., Bankaitis, V., Wirtz, K., and Huttner, W.B. (1995). A role for phosphatidylinositol transfer protein in secretory vesicle formation. Nature 377, 544-547.
35. Olivos-Glander, I.M., Jänne, P.A., and Nussbaum, R.L. (1995). The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am. J. Hum. Genet. 57, 817-823.
36. Perou, C.M., Justice, M.J., Proyor, R.J., and Kaplan, J. (1996). Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes. Proc. Natl. Acad. Sci. USA 93, 5905-5909.
37. Sahly, I., Nachum, S.B., Suss-Toby, E., Rom, A., Peretz, A., Kleiman, J., Byk, T., Selinger, Z., and Minke, B. (1992).Calcium channel blockers inhibit retinal degeneration in the retinal-degeneration-B mutant of Drosophila. Proc. Natl. Acad. Sci. USA 89, 435-439.
38. Sambrook, J., Fritsch, E.F., and Maniatis, T. (1989). Molecular Cloning: A Laboratory Manual. (Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press).
39. Segre, J.A., Nemhauser, J.L., Taylor, B.A., Nadeau, J.H., and Lander, E.S. (1995). Positional cloning of the nude locus: genetic, physical, and transcription maps of the region and mutations in the mouse and rat. Genomics 28, 549-559.
40. Sendtner, M., Kreutzberg, G.W., and Thoenen, H. (1990).Ciliary neurotrophic factor prevents the degeneration of motor neurons after axotomy. Nature 345, 440-441.
41. Sendtner, M., Schmalbruch, H., Stockli, K.A., Carroll, P., Kreutzberg, G.W., and Thoenen, H. (1992). Ciliary neurotrophic factor prevents degeneration of motor neurons in mouse mutant progressive motor neuronopathy. Nature 358, 502-504.
42. Smith, D.P., Ranganathan, R., Hardy, R.W., Marx, J., Tsuchida, T., and Zuker, C.S. (1991). Photoreceptor deactivation and retinal degeneration mediated by a photoreceptor-specific protein kinase C. Science 254, 1478-1484.
43. Smith, D.J., Zhu, Y., Zhang, J., Cheng, J.F., and Rubin, E.M. (1995). Construction of a panel of transgenic mice containing a contiguous 2-Mb set of YAC/P1 clones from human chromosome 21 q22.2. Genomics 27, 425-434.
44. Stevens, T., Esmon, B., and Schekman, R. (1982). Early stages in the yeast secretory pathway are required for transport of carboxy-peptidase Y to the vacuole. Cell 30, 439-448.
45. Strathmann, M., Hamilton, B.A., Mayeda, C.A., Simon, M.I., Meyerowitz, E.M., and Palazzolo, M.J. (1991). Transposon-facilitated DNA sequencing. Proc. Natl. Acad. Sci. USA 88, 1247-1250.
46. Thomas, G.M., Cunningham, E., Fensome, A., Ball, A., Totty, N.F., Truong, O., Hsuan, J.J., and Cockcroft, S. (1993). An essential role for phosphatidylinositol transfer protein in phospholipase C-mediated inositol lipid signaling. Cell 74, 919-928.
47. Vihtelic, T.S., Hyde, D.R., and O'Tousa, J.E. (1991). Isolation and characterization of the Drosophila retinal degeneration B (rdgB) gene. Genetics 127, 761-768.
48. Weimar, W.R., Lane, P.W., and Sidman, R.L. (1982). Vibrator (vb): a spinocerebellar system degeneration with autosomal recessive inheritance in mice. Brain Res. 251, 357-364.
49. Wu, L., Niemeyer, B., Colley, N., Socolich, M., and Zuker, C.S. (1995). Regulation of PLC-mediated signaling in vivo by CDP-diacylglycerol synthase. Nature 373, 216-222.