Cytoplasmic dynein dysfunction and neurodegenerative disease

Dyneins

Volumn , Issue , 2012, Pages 584-601

  Moughamian, Armen J ^a   Holzbaur, Erika L F ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882332548     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-382004-4.10023-8     Document Type: Chapter

References (81)

1. Presley J.F., Cole N.B., Schroer T.A., Hirschberg K., Zaal K.J., Lippincott-Schwartz J. ER-to-Golgi transport visualized in living cells. Nature 1997, 389:81-85.
2. Burkhardt J.K., Echeverri C.J., Nilsson T., Vallee R.B. Overexpression of the dynamitin (p50) subunit of the dynactin complex disrupts dynein-dependent maintenance of membrane organelle distribution. J. Cell Biol. 1997, 139:469-484.
3. Harada A., Takei Y., Kanai Y., Tanaka Y., Nonaka S., Hirokawa N. Golgi vesiculation and lysosome dispersion in cells lacking cytoplasmic dynein. J. Cell Biol. 1998, 141:51-59.
4. Jordens I., Fernandez-Borja M., Marsman M., Dusseljee S., Janssen L., Calafat J., Janssen H., Wubbolts R., Neefjes J. The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors. Curr. Biol. 2001, 11:1680-1685.
5. Hendricks A.G., Perlson E., Ross J.L., Schroeder H.W., Tokito M., Holzbaur E.L. Motor coordination via a tug-of-war mechanism drives bidirectional vesicle transport. Curr. Biol. 2010, 20:697-702.
6. Siller K.H., Serr M., Steward R., Hays T.S., Doe C.Q. Live imaging of Drosophila brain neuroblasts reveals a role for Lis1/dynactin in spindle assembly and mitotic checkpoint control. Mol. Biol. Cell 2005, 16:5127-5140.
7. Driskell O.J., Mironov A., Allan V.J., Woodman P.G. Dynein is required for receptor sorting and the morphogenesis of early endosomes. Nat. Cell. Biol. 2007, 9:113-120.
8. Palmer K.J., Hughes H., Stephens D.J. Specificity of cytoplasmic dynein subunits in discrete membrane-trafficking steps. Mol. Biol. Cell 2009, 20:2885-2899.
9. Li X., Kuromi H., Briggs L., Green D.B., Rocha J.J., Sweeney S.T., Bullock S.L. Bicaudal-D binds clathrin heavy chain to promote its transport and augments synaptic vesicle recycling. EMBO J. 2010, 29:992-1006.
10. Caviston J.P., Zajac A.L., Tokito M., Holzbaur E.L. Huntingtin coordinates the dynein-mediated dynamic positioning of endosomes and lysosomes. Mol. Biol. Cell 2010, 22:478-492.
11. Cogli L., Piro F., Bucci C. Rab7 and the CMT2B disease. Biochem. Soc. Trans. 2009, 37:1027-1031.
12. McCray B.A., Skordalakes E., Taylor J.P. Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation. Hum. Mol. Genet. 2010, 19:1033-1047.
13. Olzmann J.A., Li L., Chin L.S. Aggresome formation and neurodegenerative diseases: Therapeutic implications. Curr. Med. Chem. 2008, 15:47-60.
14. Johnston J.A., Illing M.E., Kopito R.R. Cytoplasmic dynein/dynactin mediates the assembly of aggresomes. Cell Motil. Cytoskeleton 2002, 53:26-38.
15. Kawaguchi Y., Kovacs J.J., McLaurin A., Vance J.M., Ito A., Yao T.P. The deacetylase HDAC6 regulates aggresome formation and cell viability in response to misfolded protein stress. Cell 2003, 115:727-738.
16. Hara T., Nakamura K., Matsui M., Yamamoto A., Nakahara Y., Suzuki-Migishima R., Yokoyama M., Mishima K., Saito I., Okano H., Mizushima N. Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice. Nature 2006, 441:885-889.
17. Komatsu M., Waguri S., Chiba T., Murata S., Iwata J., Tanida I., Ueno T., Koike M., Uchiyama Y., Kominami E., Tanaka K. Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature 2006, 441:880-884.
18. Ravikumar B., Acevedo-Arozena A., Imarisio S., Berger Z., Vacher C., O'Kane C.J., Brown S.D., Rubinsztein D.C. Dynein mutations impair autophagic clearance of aggregate-prone proteins. Nat. Genet. 2005, 37:771-776.
19. Kimura S., Noda T., Yoshimori T. Dynein-dependent movement of autophagosomes mediates efficient encounters with lysosomes. Cell Struct. Funct. 2008, 33:109-122.
20. Hirokawa N., Sato-Yoshitake R., Yoshida T., Kawashima T. Brain dynein (MAP1C) localizes on both anterogradely and retrogradely transported membranous organelles in vivo. J. Cell Biol. 1990, 111:1027-1037.
21. Hirokawa N., Sato-Yoshitake R., Kobayashi N., Pfister K.K., Bloom G.S., Brady S.T. Kinesin associates with anterogradely transported membranous organelles in vivo. J. Cell Biol. 1991, 114:295-302.
22. Pilling A.D., Horiuchi D., Lively C.M., Saxton W.M. Kinesin-1 and dynein are the primary motors for fast transport of mitochondria in Drosophila motor axons. Mol. Biol. Cell 2006, 17:2057-2068.
23. Cui B., Wu C., Chen L., Ramirez A., Bearer E.L., Li W.P., Mobley W.C., Chu S. One at a time, live tracking of NGF axonal transport using quantum dots. Proc. Natl. Acad. Sci. USA 2007, 104:13666-13671.
24. Perlson E., Jeong G.-B., Ross J.L., Dixit R., Wallace K.E., Kalb R.G., Holzbaur E.L.F. A switch in retrograde signaling from survival to stress in rapid-onset neurodegeneration. J. Neurosci. 2009, 29:9903-9917.
25. Vallee R.B., Bloom G.S. Mechanisms of fast and slow axonal transport. Annu. Rev. Neurosci. 1991, 14:59-92.
26. Wang L., Ho C.L., Sun D., Liem R.K., Brown A. Rapid movement of axonal neurofilaments interrupted by prolonged pauses. Nat. Cell. Biol. 2000, 2:137-141.
27. Uchida A., Alami N.H., Brown A. Tight functional coupling of kinesin-1A and dynein motors in the bidirectional transport of neurofilaments. Mol. Biol. Cell 2009, 20:4997-5006.
28. Wagner O.I., Ascano J., Tokito M., Leterrier J.F., Janmey P.A., Holzbaur E.L. The interaction of neurofilaments with the microtubule motor cytoplasmic dynein. Mol. Biol. Cell 2004, 15:5092-5100.
29. Kapitein L.C., Schlager M.A., Kuijpers M., Wulf P.S., van Spronsen M., MacKintosh F.C., Hoogenraad C.C. Mixed microtubules steer dynein-driven cargo transport into dendrites. Curr. Biol. 2010, 20:290-299.
30. Zheng Y., Wildonger J., Ye B., Zhang Y., Kita A., Younger S.H., Zimmerman S., Jan L.Y., Jan Y.N. Dynein is required for polarized dendritic transport and uniform microtubule orientation in axons. Nat. Cell. Biol. 2008, 10:1172-1180.
31. A. Wynshaw-Boris, T. Pramparo, Y.H. Youn, S. Hirotsune, Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies, Semin. Cell Dev. Biol. 21 823-830.
32. Feng Y., Walsh C.A. Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron 2004, 44:279-293.
33. Sasaki S., Mori D., Toyo-oka K., Chen A., Garrett-Beal L., Muramatsu M., Miyagawa S., Hiraiwa N., Yoshiki A., Wynshaw-Boris A., Hirotsune S. Complete loss of Ndel1 results in neuronal migration defects and early embryonic lethality. Mol. Cell Biol. 2005, 25:7812-7827.
34. Puls I., Jonnakuty C., LaMonte B.H., Holzbaur E.L., Tokito M., Mann E., Floeter M.K., Bidus K., Drayna D., Oh S.J., Brown R.H., Ludlow C.L., Fischbeck K.H. Mutant dynactin in motor neuron disease. Nat. Genet. 2003, 33:455-456.
35. Karki S., Holzbaur E.L. Affinity chromatography demonstrates a direct binding between cytoplasmic dynein and the dynactin complex. J. Biol. Chem. 1995, 270:28806-28811.
36. Glued. J. Cell Biol. 1995, 131:1507-1516.
37. Glued component of the dynactin complex binds to both microtubules and the actin-related protein centractin (Arp-1). Proc. Natl. Acad. Sci. USA 1995, 92:1634-1638.
38. Tokito M.K., Holzbaur E.L. The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy (LGMD2B). Biochim. Biophys. Acta 1998, 1442:432-436.
39. Puls I., Oh S.J., Sumner C.J., Wallace K.E., Floeter M.K., Mann E.A., Kennedy W.R., Wendelschafer-Crabb G., Vortmeyer A., Powers R., Finnegan K., Holzbaur E.L., Fischbeck K.H., Ludlow C.L. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann. Neurol. 2005, 57:687-694.
40. Glued perturbs dynactin function and induces protein aggregation. J. Cell Biol. 2006, 172:733-745.
41. Farrer M.J., Hulihan M.M., Kachergus J.M., Dachsel J.C., Stoessl A.J., Grantier L.L., Calne S., Calne D.B., Lechevalier B., Chapon F., Tsuboi Y., Yamada T., Gutmann L., Elibol B., Bhatia K.P., Wider C., Vilarino-Guell C., Ross O.A., Brown L.A., Castanedes-Casey M., Dickson D.W., Wszolek Z.K. DCTN1 mutations in Perry syndrome. Nat. Genet. 2009, 41:163-165.
42. Zuccato C., Valenza M., Cattaneo E. Molecular mechanisms and potential therapeutical targets in Huntington's disease. Physiol. Rev. 2010, 90:905-981.
43. Caviston J.P., Ross J.L., Antony S.M., Tokito M., Holzbaur E.L. Huntingtin facilitates dynein/dynactin-mediated vesicle transport. Proc. Natl. Acad. Sci. USA 2007, 104:10045-10050.
44. Caviston J.P., Holzbaur E.L. Huntingtin as an essential integrator of intracellular vesicular trafficking. Trends Cell Biol. 2009, 19:147-155.
45. Pal A., Severin F., Lommer B., Shevchenko A., Zerial M. Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is upregulated in Huntington's disease. J. Cell Biol. 2006, 172:605-618.
46. Verhoeven K., De Jonghe P., Coen K., Verpoorten N., Auer-Grumbach M., Kwon J.M., FitzPatrick D., Schmedding E., De Vriendt E., Jacobs A., Van Gerwen V., Wagner K., Hartung H.P., Timmerman V. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am. J. Hum. Genet. 2003, 72:722-727.
47. Holleran E.A., Tokito M.K., Karki S., Holzbaur E.L. Centractin (ARP1) associates with spectrin revealing a potential mechanism to link dynactin to intracellular organelles. J. Cell Biol. 1996, 135:1815-1829.
48. Muresan V., Stankewich M.C., Steffen W., Morrow J.S., Holzbaur E.L., Schnapp B.J. Dynactin-dependent, dynein-driven vesicle transport in the absence of membrane proteins: A role for spectrin and acidic phospholipids. Mol. Cell. 2001, 7:173-183.
49. Ikeda Y., Dick K.A., Weatherspoon M.R., Gincel D., Armbrust K.R., Dalton J.C., Stevanin G., Durr A., Zuhlke C., Burk K., Clark H.B., Brice A., Rothstein J.D., Schut L.J., Day J.W., Ranum L.P. Spectrin mutations cause spinocerebellar ataxia type 5. Nat. Genet. 2006, 38:184-190.
50. Lorenzo D.N., Li M.G., Mische S.E., Armbrust K.R., Ranum L.P., Hays T.S. Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila. J. Cell Biol. 2010, 189:143-158.
51. Holzbaur E.L., Hammarback J.A., Paschal B.M., Kravit N.G., Pfister K.K., Vallee R.B. Homology of a 150K cytoplasmic dynein-associated polypeptide with the Drosophila gene Glued. Nature 1991, 351:579-583.
52. Swaroop A., Paco-Larson M.L., Garen A. Molecular genetics of a transposon-induced dominant mutation in the Drosophila locus Glued. Proc. Natl. Acad. Sci. USA 1985, 82:1751-1755.
53. McGrail M., Gepner J., Silvanovich A., Ludmann S., Serr M., Hays T.S. Regulation of cytoplasmic dynein function in vivo by the Drosophila Glued complex. J. Cell Biol. 1995, 131:411-425.
54. Garen S.H., Kankel D.R. Golgi and genetic mosaic analyses of visual system mutants in Drosophila melanogaster. Dev. Biol. 1983, 96:445-466.
55. Martin M., Iyadurai S.J., Gassman A., Gindhart J.G., Hays T.S., Saxton W.M. Cytoplasmic dynein, the dynactin complex, and kinesin are interdependent and essential for fast axonal transport. Mol. Biol. Cell 1999, 10:3717-3728.
56. Koushika S.P., Schaefer A.M., Vincent R., Willis J.H., Bowerman B., Nonet M.L. Mutations in Caenorhabditis elegans cytoplasmic dynein components reveal specificity of neuronal retrograde cargo. J. Neurosci. 2004, 24:3907-3916.
57. Murthy K., Bhat J.M., Koushika S.P. In vivo imaging of retrogradely transported synaptic vesicle proteins in Caenorhabditis elegans neurons. Traffic 2010, 12:89-101.
58. Ou C.Y., Poon V.Y., Maeder C.I., Watanabe S., Lehrman E.K., Fu A.K., Park M., Fu W.Y., Jorgensen E.M., Ip N.Y., Shen K. Two cyclin-dependent kinase pathways are essential for polarized trafficking of presynaptic components. Cell 2010, 141:846-858.
59. LaMonte B.H., Wallace K.E., Holloway B.A., Shelly S.S., Ascano J., Tokito M., Van Winkle T., Howland D.S., Holzbaur E.L. Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 2002, 34:715-727.
60. Lai C., Lin X., Chandran J., Shim H., Yang W.J., Cai H. The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. J. Neurosci. 2007, 27:13982-13990.
61. Laird F.M., Farah M.H., Ackerley S., Hoke A., Maragakis N., Rothstein J.D., Griffin J., Price D.L., Martin L.J., Wong P.C. Motor neuron disease occurring in a mutant dynactin mouse model is characterized by defects in vesicular trafficking. J. Neurosci. 2008, 28:1997-2005.
62. Glued subunit of dynactin. Hum. Mol. Genet. 2008, 17:1946-1955.
63. Eaton B.A., Fetter R.D., Davis G.W. Dynactin is necessary for synapse stabilization. Neuron 2002, 34:729-741.
64. Hafezparast M., Klocke R., Ruhrberg C., Marquardt A., Ahmad-Annuar A., Bowen S., Lalli G., Witherden A.S., Hummerich H., Nicholson S., Morgan P.J., Oozageer R., Priestley J.V., Averill S., King V.R., Ball S., Peters J., Toda T., Yamamoto A., Hiraoka Y., Augustin M., Korthaus D., Wattler S., Wabnitz P., Dickneite C., Lampel S., Boehme F., Peraus G., Popp A., Rudelius M., Schlegel J., Fuchs H., Hrabe de Angelis M., Schiavo G., Shima D.T., Russ A.P., Stumm G., Martin J.E., Fisher E.M. Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science 2003, 300:808-812.
65. Chen X.J., Levedakou E.N., Millen K.J., Wollmann R.L., Soliven B., Popko B. Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic dynein heavy chain 1 gene. J. Neurosci. 2007, 27:14515-14524.
66. K.M. Ori-McKenney, J. Xu, S.P. Gross, R.B. Vallee, A cytoplasmic dynein tail mutation impairs motor processivity, Nat. Cell. Biol. 12 1228-1234.
67. Ilieva H.S., Yamanaka K., Malkmus S., Kakinohana O., Yaksh T., Marsala M., Cleveland D.W. Mutant dynein (Loa). triggers proprioceptive axon loss that extends survival only in the SOD1 ALS model with highest motor neuron death. Proc. Natl. Acad. Sci. USA 2008, 105:12599-12604.
68. Dupuis L., Fergani A., Braunstein K.E., Eschbach J., Holl N., Rene F., Gonzalez De Aguilar J.L., Zoerner B., Schwalenstocker B., Ludolph A.C., Loeffler J.P. Mice with a mutation in the dynein heavy chain 1 gene display sensory neuropathy but lack motor neuron disease. Exp. Neurol. 2009, 215:146-152.
69. Braunstein K.E., Eschbach J., Rona-Voros K., Soylu R., Mikrouli E., Larmet Y., Rene F., De Aguilar J.L., Loeffler J.P., Muller H.P., Bucher S., Kaulisch T., Niessen H.G., Tillmanns J., Fischer K., Schwalenstocker B., Kassubek J., Pichler B., Stiller D., Petersen A., Ludolph A.C., Dupuis L. A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons. Hum. Mol. Genet. 2010, 19:4385-4398.
70. Perlson E., Maday S., Fu M.M., Moughamian A.J., Holzbaur E.L. Retrograde axonal transport: Pathways to cell death?. Trends Neurosci. 2010, 33:335-344.
71. Ligon L.A., LaMonte B.H., Wallace K.E., Weber N., Kalb R.G., Holzbaur E.L. Mutant superoxide dismutase disrupts cytoplasmic dynein in motor neurons. NeuroReport 2005, 16:533-536.
72. Bilsland L.G., Sahai E., Kelly G., Golding M., Greensmith L., Schiavo G. Deficits in axonal transport precede ALS symptoms in vivo. Proc. Natl. Acad. Sci. USA 2010, 107:20523-20528.
73. Heerssen H.M., Pazyra M.F., Segal R.A. Dynein motors transport activated Trks to promote survival of target-dependent neurons. Nat. Neurosci. 2004, 7:596-604.
74. Perlson E., Hanz S., Ben-Yaakov K., Segal-Ruder Y., Seger R., Fainzilber M. Vimentin-dependent spatial translocation of an activated MAP kinase in injured nerve. Neuron 2005, 45:715-726.
75. Gunawardena S., Her L.S., Brusch R.G., Laymon R.A., Niesman I.R., Gordesky-Gold B., Sintasath L., Bonini N.M., Goldstein L.S. Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila. Neuron 2003, 40:25-40.
76. Colin E., Zala D., Liot G., Rangone H., Borrell-Pages M., Li X.J., Saudou F., Humbert S. Huntingtin phosphorylation acts as a molecular switch for anterograde/retrograde transport in neurons. EMBO J. 2008, 27:2124-2134.
77. Gauthier L.R., Charrin B.C., Borrell-Pages M., Dompierre J.P., Rangone H., Cordelieres F.P., De Mey J., MacDonald M.E., Lessmann V., Humbert S., Saudou F. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 2004, 118:127-138.
78. Vossel K.A., Zhang K., Brodbeck J., Daub A.C., Sharma P., Finkbeiner S., Cui B., Mucke L. Tau reduction prevents Abeta-induced defects in axonal transport. Science 2010, 330:198.
79. Gross S.P. Hither and yon: A review of bi-directional microtubule-based transport. Phys. Biol. 2004, 1:R1-R11.
80. Glued, ORP1L, and the receptor betalll spectrin. J. Cell Biol. 2007, 176:459-471.
81. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993, 72:971-983. The Huntington's Disease Collaborative Research Group.