Expression of normal and mutant huntingtin in the developing brain

Journal of Neuroscience

Volumn 16, Issue 17, 1996, Pages 5523-5535

  Bhide, Pradeep G ^b   Day, Michelle ^b   Sapp, Ellen ^b   Schwarz, Cordula ^b   Sheth, Ami ^b   Kim, Johnny ^b   Young, Anne B ^b   Penney, John ^b   Golden, Jeffrey ^b   Aronin, Neil ^b   DiFiglia, Marian ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b NONE

Author keywords

huntingtin; Huntington's disease; mutant huntingtin; postnatal brain; striatum embryonic brain

Indexed keywords

ANIMAL TISSUE; ARTICLE; BRAIN ATROPHY; BRAIN DEVELOPMENT; GENE MUTATION; GENETIC HETEROGENEITY; HUNTINGTON CHOREA; IMMUNOREACTIVITY; MOUSE; NERVE CELL DIFFERENTIATION; NERVE DEGENERATION; NONHUMAN; PERIKARYON; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL;

EID: 9444286388     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/jneurosci.16-17-05523.1996     Document Type: Article

References (58)

1. Albin R, Greenmayre JT (1992) Alternative excitotoxic hypotheses. Neurology 42:733-738.
2. Albin RL, Reiner A, Anderson KD, Dure IV LS, Handelin B, Balfour R, Whetsell Jr WO, Penney JB, Young AB (1992) Preferential loss of striato-external pallidal projection neurons in presymptomatic Huntington's disease. Ann Neurol 31:425-430.
3. Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, Squitieri F, Lin B, Kalchman MA, Graham RK, Hayden MR (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet 4:398-403.
4. Aronin N, Chase K, Christine Y, Sapp E, Schwarz C, Malta N, Kornreich R, Landwehrmeyer B, Bird E, Beal MF, Vonsattel JP, Smith T, Carraway R, Boyce FM, Young AB, Penney JB, DiFiglia M (1995) CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain. Neuron 15:1193-1201.
5. Bayer SA (1984) Neurogenesis in the rat neostriatum. Int J Dev Neurosci 2:163-175.
6. Bayer SA, Altman J (1987) Directions in neurogenetic gradients and patterns of anatomical connections in the telencephalon. Prog Neurobiol 29:57-106.
7. Beal MF, Swartz KJ, Hyman BT, Storey E, Finn SF, Koroshetz W (1991) Aminooxyacetic acid results in excitotoxin lesions by a novel indirect mechanism. J Neurochem 57:1068-1073.
8. Beal MF, Hyman BT, Koroshetz W (1993) Do defects in mitochondrial energy metabolism underlie the pathology of neurodegenerative diseases? Trends Neurosci 16:125-131.
9. Coyle JT, Puttfarcken P (1993) Oxidative stress, glutamate, and neurodegenerative disorders. Science 262:689-695.
10. Cudkowicz M, Kowall NS (1990) Degeneration of pyramidal projection neurons in Huntington's disease cortex. Ann Neurol 27:200-204.
11. Damke H, Baba T, Warnock DE, Schmid SL (1994) Induction of mutant dynamin specifically blocks endocytic coated vesicle formation. J Cell Biol 127:915-934.
12. De La Monte SM, Vonsattel J-P, Richardson Jr EP (1988) Morphometric demonstration of atrophic changes in the cerebral cortex, white matter, and neostriatum in Huntington's disease. J Neuropathol Exp Neurol 47:516-525.
13. DiFiglia M (1990) Excitotoxicity model of Huntington's disease. Trends Neurosci 13:286-289.
14. DiFiglia M, Sapp E, Chase K, Schwarz C, Meloni A, Young C, Martin E, Vonsattel J-P, Carraway R, Boyce FM, Aronin N (1995) Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 14:1075-1081.
15. Dure IV LS, Landwehrmeyer BG, Golden J, McNeil SM, Ge P, Aizawa H, Huang Q, Ambrose CM, Duyao MP, Bird ED, DiFiglia M, Gusella JF, MacDonald ME, Penney JB, Young AB, Vonsattel J-P (1994) IT15 gene expression in fetal human brain. Brain Res 659:33-41.
16. Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Ross C, Franz M, Abbott M, Gray J, Conneally P, Young A, Penney J, Hollingsworth Z, Shoulson I, Lazzarini A, Falek A, Koroahetz W, Sax D, Bird E, Vonsottel J, Bonilla E, Alvir J, Bickham Conde J, Cha J-H, Dure L, Gomez F, Ramos M, Sachez-Ramos J, Snodgrass S, de Young M, Wexler N, Moscowitz C, Penchaszadeh G, MacFarlane H, Anderson M, Jenkins B, Srinidhi J, Barnes G, Gusella J, MacDonald M (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet 4:387-392.
17. Duyao MP, Auerbach AB, Ryan A, Persichetti F, Barnes FT, McNeill SM, Ge P, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME (1995) Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269:407-409.
18. Faire K, Trent F, Tepper JM, Bonder EM (1992) Analysis of dynamin isoforms in mammalian brain: dynamin-1 expression is spatially and temporally regulated during postnatal development. Proc Natl Acad Sci USA 89:8376-8380.
19. Faure M-P, Alonso A, Nouel D, Gaudriault G, Dennis M, Vincent J-P, Bcaudet A (1995) Somatodendritic internalization and perinuclear targeting of neurotensin in the mammalian brain. J Neurosci 15:4140-4147.
20. Fentress JC, Stanfield BB, Cowan WM (1981) Observations on the development of the striatum in mice and rats. Anat Embryol 163:275-298.
21. Ferrante RJ, Kowall NW, Beal MF, Richardson Jr EP, Bird ED, Martin JB (1985) Selective sparing of a class of striatal neurons in Huntington's disease. Science 230:561-563.
22. Ferrante RJ, Kowall NW, Beal MF, Martin JB, Bird ED, Richardson Jr EP (1987) Morphologic and histochemical characteristics of a spared subset of striatal neurons in Huntington's disease. J Neuropathol Exp Neurol 46:12-27.
23. Ferrante RJ, Kowall NW, Richardson Jr EP (1991) Proliferative and degenerative changes in striatal spiny neurons in Huntington's disease: a combined study using the section-Golgi method and calbindin D28k immunocytochemistry. J Neurosci 11:3877-3887.
24. Fishell G, Van der Kooy D (1987) Pattern formation in the striatum: developmental changes in the distribution of striatonigral neurons. J Neurosci 7:1969-1978.
25. Fishell G, Van der Kooy D (1991) Pattern formation in the striatum: neurons with early projections to the substantia nigra survive the cell death period. J Comp Neurol 312:33-42.
26. Folstein SE (1989) Huntington's disease: a disorder of families. Baltimore: Johns Hopkins UP.
27. Graveland GA, Williams RS, DiFiglia MA (1985) Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington's disease. Science 227:770-773.
28. Gutekunst CA, Levey AI, Heilman DJ, Whaley WL, Yi H, Nash NR, Rees HD, Madden JJ, Hersch SM (1995) Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies. Proc Natl Acad Sci USA 97:8710-8714.
29. Hedreen JC, Peyser CE, Folstein SE, Ross CA (1991) Neuronal loss in layers V and VI of cerebral cortex in Huntington's disease. Neurosci Lett 133:257-261.
30. 28k immunoreactivity in rat striatal neurons in vivo and in vitro mimic the pattern seen in Huntington's disease. Neuroscience 65:397-407.
31. Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983.
32. Ikonomidou D, Mosinger JL, Salles K, Olney J (1989) Sensitivity of developing brain to hypobaric/ischemic damage parallels sensitivity to NMDA. J Neurosci 9:2809-2818.
33. Jacobson M (1991) Developmental neurobiology. New York: Plenum.
34. Lapper SR, Bolam JP (1992) Input from the frontal cortex and the parafascicular nucleus to cholinergic interneurons in the dorsal striatum of the rat. Neuroscience 51:533-545.
35. Landwehrmeyer GB, McNeil SM, Dure LS, Ge P, Aizawa H, Huang Q, Ambrose CM, Duyao MP, Bird ED, Bonilla E, de Young M, AvilaGonzales AJ, Wexler NS, DiFiglia M, Gusella JF, MacDonald ME, Penney JB, Young AB, Vonsattel J-P (1995) Huntington's Disease gene: regional and cellular expression in brain of normal and affected individuals. Ann Neurol 37:218-230.
36. MacDonald JW, Silverstein FS, Johnston MV (1988) Neurotoxicity of NMDA is markedly enhanced in developing rat central nervous system. Brain Res 459:200-203.
37. Mazziotta JC, Phelps ME, Pahl JJ, Huang SC, Baxter LR, Riege WH, Hoffman JM, Kuhl DE, Lanto AB, Wapenski JA, Markham CH (1987) Reduced cerebral glucose metabolism in asymptomatic subjects at risk for Huntington's disease. N Engl J Med 316:357-362.
38. McPherson PS, Takei K, Schmid SL, DeCamilli P (1994) p145, a major GRB2-binding protein in brain is co-localized with dynamin in nerve terminals where it undergoes activity-dependent dephosphorylation. J Biol Chem 269:30132-30139.
39. Myers RH, Vonsattel JP, Paskevich PA, Kiely DK, Stevens TJ, Cupples LA, Richardson Jr EP, Bird ED (1991) Decreased neuronal and increased oligodendroglial densities in Huntington's disease caudate nucleus. J Neuropathol Exp Neurol 50:729-742.
40. Nakata T, Iwamoto A, Noda Y, Takemura R, Yoshikura H, Hirokawa N (1991) Predominant and developmentally regulated expression of dynamin in neurons. Neuron 7:461-469.
41. Nasir J, Floresco SB, O'Kusky JR, Diewert VM, Richman JM, Zeisler J, Borowski A, Marth JD, Phillips AG, Hayden MR (1995) Target disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81:811-823.
42. Noda Y, Nakata T, Hirokawa N (1993) Localization of dynamin: widespread distribution in mature neurons and association with membranous organelles. Neuroscience 55:113-127.
43. Reiner A, Albin RL, Anderson KD, D'Amato DJ, Penney JB, Young AB (1988) Differential loss of striatal projection neurons in Huntington's disease. Proc Natl Acad Sci USA 5733-5737.
44. Sapp E, Ge P, Aizawa H, Bird E, Penney J, Young AB, Vonsattel JP, DiFiglia M (1995) Evidence for a preferential loss of enkephalin immunoreactivity in the external globus pallidus in low grade Huntington's disease using high resolution image analysis. Neuroscience 64:397-404.
45. Semba K, Vincent SR, Fibiger HC (1988) Different time of origin of choline acetyltransferase- and somatostatin-immunoreactive neurons in the rat striatum. J Neurosci 8:3937-3944.
46. Sharp AH, Loev SJ, Schilling G, Li S-H, Li X-J, Bao J, Wagster MV, Kotzuk JA, Steiner JP, Lo A, Hedreen J, Sisodia S, Snyder SH, Dawson TM, Ryugo DK, Ross CA (1995) Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 14:1065-1074.
47. Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald M, Gusella JF, Harper PS, Shaw DJ (1993) Relationship between trinucleotide repeat expansions and phenotypic variation in Huntington's disease. Nature Genet 4:393-397.
48. Sotrel A, Paskevich PA, Kiely DK, Bird ED, Williams RS, Myers RH (1991) Morphometric analysis of the prefrontal cortex in Huntington's disease. Neurology 41:1117-1123.
49. Sotrel A, Williams RS, Kaufmann WE, Myers RH (1993) Evidence for neuronal degeneration and dendritic plasticity in cortical pyramidal neurons of Huntington's disease: a quantitative Golgi study. Neurology 43:2088-2096.
50. Stine OC, Pleasant N, Franz ML, Abbott MH, Folstein SE, Ross CA (1993) Correlations between the onset age of Huntington's disease and length of the trinucleotide repeat in IT15. Hum Mol Genet 2:1547-1549.
51. Tepper JM, Trent F (1993) In vivo studies of the postnatal development of rat neostriatal neurons. Prog Brain Res 99:35-50.
52. Trescher WH, McDonald JW, Johnston MV (1994) Quinolinate induced injury is enhanced in developing rat brain. Dev Brain Res 83:224-232.
53. Trottier Y, Devys D, Imbert G, Saudou F, An I, Luta Y, Weber C, Agid Y, Hirsch EC, Mandel J-L (1995) Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nature Genet 10:104-110.
54. Van der Kooy D, Fishell D (1986) Neuronal birthdate underlies the development of the striatal compartments. Brain Res 401:155-161.
55. Vonsattel JP, Myers RH, Stevens TJ, Ferrante RJ, Bird ED, Richardson EP Jr (1985) Neuropathological classification of Huntington's disease. J Neuropathol Exp Neurol 44:559-577.
56. Wexler NS, Rose EA, Housman DE (1991) Molecular approaches to hereditary diseases of the nervous system: Huntington's disease as a paradigm. Annu Rev Neurosci 14:503-529.
57. Young AB (1994) Huntington's disease: lessons from and for molecular neuroscience. The Neuroscientist, November, preview issue, pp 30-37.
58. Zeitlin S, Liu JP, Chapman DL, Papaioannou VE, Efstratiadis A (1995) Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease homologue. Nature Genet 11:155-163.