Presenilins in the developing, adult, and aging cerebral cortex

Neuroscientist

Volumn 11, Issue 5, 2005, Pages 441-451

  Wines Samuelson, Mary ^a   Shen, Jie ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Alzheimer disease; Cajal Retzius neuron; CBP; Cortical lamination; CREB; Frontal temporal dementia; Neural progenitor cells; Neurodegeneration; Neuronal survival; NMDA receptor; Notch; Synapse; Synaptic plasticity

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; NOTCH RECEPTOR; PRESENILIN 1; PRESENILIN 2;

ADOLESCENT; ADULT; AGED; ALZHEIMER DISEASE; BRAIN CORTEX; CELL PROLIFERATION; CELL SURVIVAL; DEGENERATIVE DISEASE; GENETIC ANALYSIS; HUMAN; LONG TERM MEMORY; NERVE CELL DIFFERENTIATION; NERVE CELL PLASTICITY; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; STEM CELL;

AGING; ANIMALS; CELL CYCLE; CELL DEATH; CELL MOVEMENT; CEREBRAL CORTEX; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; MEMBRANE PROTEINS; MODELS, NEUROLOGICAL; NEURONAL PLASTICITY; PRESENILIN-1; PRESENILIN-2;

EID: 25144490620     PISSN: 10738584     EISSN: None     Source Type: Journal    
DOI: 10.1177/1073858405278922     Document Type: Review

References (96)

1. Altun-Gultekin Z, Andachi Y, Tsalik EL, Pilgrim D, Kohara Y, Hobert O. 2001. A regulatory cascade of three homeobox genes, ceh-10, ttx-3 and ceh-23, controls cell fate specification of a defined interneuron class in C. elegans. Development 128(11):1951-69.
2. Amtul Z, Lewis PA, Piper S, Crook R, Baker M, Findlay K, and others. 2002. A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. Neurobiol Dis 9(2):269-73.
3. Artavanis-Tsakonas S, Rand MD, Lake RJ. 1999. Notch signaling: cell fate control and signal integration in development. Science 284(5415):770-6.
4. Bailey CH, Giustetto M, Huang YY, Hawkins RD, Kandel ER. 2000. Is heterosynaptic modulation essential for stabilizing Hebbian plasticity and memory? Nat Rev Neurosci 1(1):11-20.
5. Baumeister R, Leimer U, Zweckbronner I, Jakubek C, Grunberg J, Haass C. 1997. Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. Genes Funct 1(2):149-59.
6. Beglopoulos V, Sun X, Saura CA, Lemere CA, Kim RD, Shen J. 2004. Reduced beta-amyloid production and increased inflammatory responses in presenilin conditional knock-out mice. J Biol Chem 279(45):46907-14.
7. Borchelt DR, Thinakaran G, Eckman CB, Lee MK, Davenport F, Ratovitsky T, and others. 1996. Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta 1-42/1-40 ratio in vitro and in vivo. Neuron 17(5):1005-13.
8. Cai D, Leem JY, Greenfield JP, Wang P, Kim BS, Wang R, and others. 2003. Presenilin-1 regulates intracellular trafficking and cell surface delivery of beta-amyloid precursor protein. J Biol Chem 278(5):3446-54.
9. Chambers CB, Peng Y, Nguyen H, Gaiano N, Fishell G, Nye JS. 2001. Spatiotemporal selectivity of response to Notch 1 signals in mammalian forebrain precursors. Development 128(5):689-702.
10. Conlon RA, Reaume AG, Rossant J. 1995. Notch1 is required for the coordinate segmentation of somites. Development 121(5):1533-45.
11. Cook DG, Sung JC, Golde TE, Felsenstein KM, Wojczyk BS, Tanzi RE, and others. 1996. Expression and analysis of presenilin 1 in a human neuronal system: localization in cell bodies and dendrites. Proc Natl Acad Sci U S A 93(17):9223-8.
12. Costa RM, Honjo T, Silva AJ. 2003. Learning and memory deficits in Notch mutant mice. Curr Biol 13(15):1348-54.
13. de la Pompa JL, Wakeham A, Correia KM, Samper E, Brown S, Aguilera RJ, and others. 1997. Conservation of the Notch signalling pathway in mammalian neurogenesis. Development 124(6):1139-48.
14. De Strooper B, Annaert W, Cupers P, Saftig P, Craessaerts K, Mumm JS, and others. 1999. A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain. Nature 398(6727):518-22.
15. Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, and others. 2004. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol 55(5):617-26.
16. Dewachter I, Reverse D, Caluwaerts N, Ris L, Kuiperi C, Van den Haute C, and others. 2002. Neuronal deficiency of presenilin 1 inhibits amyloid plaque formation and corrects hippocampal long-term potentiation but not a cognitive defect of amyloid precursor protein [V7171] transgenic mice. J Neurosci 22(9):3445-53.
17. Dewji NN, Singer SJ. 1996. Specific transcellular binding between membrane proteins crucial to Alzheimer disease. Proc Natl Acad Sci U S A 93(22):12575-80.
18. Dewji NN, Singer SJ. 1997a. Cell surface expression of the Alzheimer disease-related presenilin proteins. Proc Natl Acad Sci USA 94(18):9926-31.
19. Dewji NN, Singer SJ. 1997b. The seven-transmembrane spanning topography of the Alzheimer disease-related presenilin proteins in the plasma membranes of cultured cells. Proc Natl Acad Sci U S A 94(25):14025-30.
20. Doan A, Thinakaran G, Borchelt DR, Slunt HH, Ratovitsky T, Podlisny M, and others. 1996. Protein topology of presenilin 1. Neuron 17(5):1023-30.
21. Donoviel DB, Hadjantonakis A, Ikeda M, Zheng H, St George Hyslop P, Bernstein A. 1999. Mice lacking both presenilin genes exhibit early embryonic patterning defects. Genes Dev 13:2801-10.
22. Dorsky RI, Rapaport DH, Harris WA. 1995. Xotch inhibits cell differentiation in the Xenopus retina. Neuron 14(3):487-96.
23. Feng R, Rampon C, Tang YP, Shrom D, Jin J, Kyin M, and others. 2001. Deficient neurogenesis in forebrain-specific presenilin-1 knockout mice is associated with reduced clearance of hippocampal memory traces. Neuron 32(5):911-26.
24. Feng R, Wang H, Wang J, Shrom D, Zeng X, Tsien JZ. 2004. Forebrain degeneration and ventricle enlargement caused by double knockout of Alzheimer's presenilin-1 and presenilin-2. Proc Natl Acad Sci U S A 101(21):8162-7.
25. Fortini ME. 2001. Notch and presenilin: a proteolytic mechanism emerges. Curr Opin Cell Biol 13(5):627-34.
26. Gaiano N, Nye JS, Fishell G. 2000. Radial glial identity is promoted by Notch1 signaling in the murine forebrain. Neuron 26(2):395-404.
27. Goldman S. 2003. Glia as neural progenitor cells. Trends Neurosci 26(11):590-6.
28. Handler M, Yang X, Shen J. 2000. Presenilin-1 regulates neuronal differentiation during neurogenesis. Development 127:2593-606.
29. Hartfuss E, Galli R, Heins N, Gotz M. 2001. Characterization of CNS precursor subtypes and radial glia. Dev Biol 229(1):15-30.
30. Hartmann D, De Strooper B, Saftig P. 1999. Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly. Curr Biol 9:719-27.
31. Henrique D, Hirsinger E, Adam J, Le Roux I, Pourquie O, Ish-Horowicz D, and others. 1997. Maintenance of neuroepithelial progenitor cells by Delta-Notch signalling in the embryonic chick retina. Curr Biol 7(9):661-70.
32. Herreman A, Hartmann D, Annaert W, Saftig P, Craessaerts K, Serneels L, and others. 1999. Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency. Proc Natl Acad Sci U S A 96(21):11872-7.
33. Hitoshi S, Alexson T, Tropepe V, Donoviel D, Elia AJ, Nye JS, and others. 2002. Notch pathway molecules are essential for the maintenance, but not the generation, of mammalian neural stem cells. Genes Dev 16(7):846-58.
34. Hutton M. 2004. Presenilin mutations associated with fronto-temporal dementia. Ann Neurol 55(5):604-6.
35. Jack C, Berezovska O, Wolfe MS, Hyman BT. 2001. Effect of PS1 deficiency and an APP gamma-secretase inhibitor on Notch 1 signaling in primary mammalian neurons. Brain Res Mol Brain Res 87(2):166-74.
36. Justice NJ, Jan YN. 2002. Variations on the Notch pathway in neural development. Curr Opin Neurobiol 12(1):64-70.
37. Kaether C, Lammich S, Edbauer D, Ertl M, Rietdorf J, Capell A, and others. 2002. Presenilin-1 affects trafficking and processing of betaAPP and is targeted in a complex with nicastrin to the plasma membrane. J Cell Biol 158(3):551-61.
38. Kovacs DM, Fausett HJ, Page KJ, Kim TW, Moir RD, Merriam DE, and others. 1996. Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells. Nat Med 2(2):224-9.
39. Kriegstein AR, Noctor SC. 2004. Patterns of neuronal migration in the embryonic cortex. Trends Neurosci 27(7):392-9.
40. Lan JJ, Heilman CJ, Nash NR, Rees HD, Yi H, Counts SE, and others. 1997. Light and electron microscopic localization of presenilin-1 in primate brain. J Neurosci 17(6):1971-80.
41. Lee MK, Slunt HH, Martin LJ, Thinakaran G, Kim G, Gandy SE, and others. 1996. Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues. J Neurosci 16(23):7513-25.
42. Lee VM, Goedert M, Trojanowski JQ. 2001. Neurodegenerative tauopathies. Annu Rev Neurosci 24:1121-59.
43. Levitan D, Doyle TG, Brousseau D, Lee MK, Thinakaran G, Slunt HH, and others. 1996. Assessment of normal and mutant human presenilin function in Caenorhabditis elegans. Proc Natl Acad Sci U S A 93(25):14940-4.
44. Levitan D, Greenwald I. 1995. Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature 377(6547):351-4.
45. Levitan D, Greenwald I. 1998. Effects of SEL-12 presenilin on LIN-12 localization and function in Caenorhabditis elegans. Development 125(18):3599-606.
46. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell H, and others. 1995. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269:973-7.
47. Li X, Greenwald I. 1996. Membrane topology of the C. elegans SEL-12 presenilin. Neuron 17(5):1015-21.
48. Li X, Greenwald I. 1998. Additional evidence for an eight-transmembrane- domain topology for Caenorhabditis elegans and human presenilins. Proc Natl Acad Sci U S A 95(12):7109-14.
49. Louvi A, Sisodia SS, Grove EA. 2004. Presenilin 1 in migration and morphogenesis in the central nervous system. Development 131(13):3093-105.
50. Malatesta P, Hartfuss E, Gotz M. 2000. Isolation of radial glial cells by fluorescent-activated cell sorting reveals a neuronal lineage. Development 127(24):5253-63.
51. Malenka RC, Nicoll RA. 1999. Long-term potentiation-a decade of progress? Science 285(5435):1870-4.
52. Mantamadiotis T, Lemberger T, Bleckmann SC, Kern H, Kretz O, Martin Villalba A, and others. 2002. Disruption of CREB function in brain leads to neurodegeneration. Nat Genet 31(1):47-54.
53. Marin O, Rubenstein JL. 2001. A long, remarkable journey: tangential migration in the telencephalon. Nat Rev Neurosci 2(11):780-90.
54. Marin O, Rubenstein JL. 2003. Cell migration in the forebrain. Annu Rev Neurosci 26:441-83.
55. Miyata T, Kawaguchi A, Okano H, Ogawa M. 2001. Asymmetric inheritance of radial glial fibers by cortical neurons. Neuron 31(5):727-41.
56. Moechars D, Lorent K, De Strooper B, Dewachter I, Van Leuven F. 1996. Expression in brain of amyloid precursor protein mutated in the alpha-secretase site causes disturbed behavior, neuronal degeneration and premature death in transgenic mice. Embo J 15(6):1265-74.
57. Moreno-Flores MT, Medina M, Wandosell F. 1999. Expression of presenilin 1 in nervous system during rat development. J Comp Neurol 410(4):556-70.
58. Nakajima M, Shimizu T, Shirasawa T. 2000. Notch-1 activation by familial Alzheimer's disease (FAD)-linked mutant forms of presenilin-1. J Neurosci Res 62(2):311-7.
59. Naruse S, Thinakaran G, Luo JJ, Kusiak JW, Tomita T, Iwatsubo T, and others. 1998. Effects of PS1 deficiency on membrane protein trafficking in neurons. Neuron 21(5):1213-21.
60. Noctor SC, Flint AC, Weissman TA, Dammerman RS, Kriegstein AR. 2001. Neurons derived from radial glial cells establish radial units in neocortex. Nature 409(6821):714-20.
61. Nye JS, Kopan R, Axel R. 1994. An activated Notch suppresses neurogenesis and myogenesis but not gliogenesis in mammalian cells. Development 120(9):2421-30.
62. Ogawa M, Miyata T, Nakajima K, Yagyu K, Seike M, Ikenaka K, and others. 1995. The reeler gene-associated antigen on Cajal-Retzius neurons is a crucial molecule for laminar organization of cortical neurons. Neuron 14(5):899-912.
63. Oka C, Nakano T, Wakeham A, de la Pompa JL, Mori C, Sakai T, and others. 1995. Disruption of the mouse RBP-J kappa gene results in early embryonic death. Development 121(10):3291-301.
64. Okochi M, Eimer S, Bottcher A, Baumeister R, Romig H, Walter J, and others. 2000. A loss of function mutant of the presenilin homologue SEL-12 undergoes aberrant endoproteolysis in Caenorhabditis elegans and increases abeta 42 generation in human cells. J Biol Chem 275(52):40925-32.
65. Patten BA, Peyrin JM, Weinmaster G, Corfas G. 2003. Sequential signaling through Notch1 and erbB receptors mediates radial glia differentiation. J Neurosci 23(14):6132-40.
66. Rakic P. 2003. Developmental and evolutionary adaptations of cortical radial glia. Cereb Cortex 13(6):541-9.
67. Ray WJ, Yao M, Mumm J, Schroeter EH, Saftig P, Wolfe M, and others. 1999. Cell surface presenilin-1 participates in the gamma-secretase-like proteolysis of Notch. J Biol Chem 274(51):36801-7.
68. Rice DS, Curran T. 2001. Role of the reelin signaling pathway in central nervous system development. Annu Rev Neurosci 24:1005-39.
69. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, and others. 1995. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 376(6543):775-8.
70. Saura CA, Choi SY, Beglopoulos V, Malkani S, Zhang D, Shankaranarayana Rao BS, and others. 2004. Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration. Neuron 42(1):23-36.
71. Scheer N, Groth A, Hans S, Campos-Ortega JA. 2001. An instructive function for Notch in promoting gliogenesis in the zebraf ish retina. Development 128(7):1099-107.
72. Schmid RS, McGrath B, Berechid BE, Boyles B, Marchionni M, Sestan N, and others. 2003. Neuregulin 1-erbB2 signaling is required for the establishment of radial glia and their transformation into astrocytes in cerebral cortex. Proc Natl Acad Sci U S A 100(7):4251-6.
73. Schuurmans C, Guillemot F. 2002. Molecular mechanisms underlying cell fate specification in the developing telencephalon. Curr Opin Neurobiol 12(1):26-34.
74. Schweisguth F. 2004. Notch signaling activity. Curr Biol 14(3):R129-38.
75. Shen J, Bronson RT, Chen DF, Xia W, Selkoe DJ, Tonegawa S. 1997. Skeletal and CNS defects in presenilin-1 deficient mice. Cell 89:629-39.
76. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, and others. 1995. Cloning of a novel gene bearing missense mutations in early onset familial Alzheimer disease. Nature 375:754-60.
77. Simpson P. 1997. Notch signalling in development: on equivalence groups and asymmetric developmental potential. Curr Opin Genet Dev 7(4):537-42.
78. Song W, Nadeau P, Yuan M, Yang X, Shen J, Yankner BA. 1999. Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations. Proc Natl Acad Sci U S A 96(12):6959-63.
79. Sorbi S, Forleo P, Tedde A, Cellini E, Ciantelli M, Bagnoli S, and others. 2001. Genetic risk factors in familial Alzheimer's disease. Mech Ageing Dev 122(16):1951-60.
80. Spittaels K, Van den Haute C, Van Dorpe J, Geerts H, Mercken M, Bruynseels K, and others. 2000. Glycogen synthase kinase-3beta phosphorylates protein tau and rescues the axonopathy in the central nervous system of human four-repeat tau transgenic mice. J Biol Chem 275(52):41340-9.
81. St George-Hyslop PH. 2000. Molecular genetics of Alzheimer's disease. Biol Psychiatry 47(3):183-99.
82. Struhl G, Greenwald I. 1999. Presenilin is required for activity and nuclear access of Notch in Drosophila. Nature 398(6727):522-5.
83. Super H, Martinez A, Soriano E. 1997. Degeneration of Cajal-Retzius cells in the developing cerebral cortex of the mouse after ablation of meningeal cells by 6-hydroxydopamine. Brain Res Dev Brain Res 98(1):15-20.
84. Super H, Perez Sust P, Soriano E. 1997. Survival of Cajal-Retzius cells after cortical lesions in newborn mice: a possible role for Cajal-Retzius cells in brain repair. Brain Res Dev Brain Res 98(1):9-14.
85. Swiatek PJ, Lindsell CE, del Amo FF, Weinmaster G, Gridley T. 1994. Notch1 is essential for postimplantation development in mice. Genes Dev 8(6):707-19.
86. Tissir F, Goffinet AM. 2003. Reelin and brain development. Nat Rev Neurosci 4(6):496-505.
87. Walter J, Capell A, Grunberg J, Pesold B, Schindzielorz A, Prior R, and others. 1996. The Alzheimer's disease-associated presenilins are differentially phosphorylated proteins located predominantly within the endoplasmic reticulum. Mol Med 2(6):673-91.
88. Wang Y, Chan SL, Miele L, Yao PJ, Mackes J, Ingram DK, and others. 2004. Involvement of Notch signaling in hippocampal synaptic plasticity. Proc Natl Acad Sci U S A 101(25):9458-62.
89. Weinmaster G. 2000. Notch signal transduction: a real rip and more. Curr Opin Genet Dev 10(4):363-9.
90. Wines-Samuel son M, Handler M, Shen J. 2005. Role of presenilin-1 in cortical lamination and survival of Cajal-Retzius neurons. Dev Biol 277(2):332-46.
91. Wittenburg N, Eimer S, Lakowski B, Rohrig S, Rudolph C, Baumeister R. 2000. Presenilin is required for proper morphology and function of neurons in C. elegans. Nature 406(6793):306-9.
92. Wong PC, Zheng H, Chen H, Becher MW, Sirinathsinghji DJ, Trumbauer ME, and others. 1997. Presenilin 1 is required for Notch1 and DIII expression in the paraxial mesoderm. Nature 387(6630):288-92.
93. Xia W, Zhang J, Ostaszewski BL, Kimberly WT, Seubert P, Koo EH, and others. 1998. Presenilin 1 regulates the processing of beta-amyloid precursor protein C-terminal fragments and the generation of amyloid beta-protein in endoplasmic reticulum and Golgi. Biochemistry 37(47):16465-71.
94. Ye Y, Lukinova N, Fortini ME. 1999. Neurogenic phenotypes and altered Notch processing in Drosophila Presenilin mutants. Nature 398(6727):525-9.
95. Yu G, Chen F, Levesque G, Nishimura M, Zhang DM, Levesque L, and others. 1998. The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin. J Biol Chem 273(26):16470-5.
96. Yu H, Saura CA, Choi SY, Sun LD, Yang X, Handler M, and others. 2001. APP processing and synaptic plasticity in presenilin-1 conditional knockout mice. Neuron 31(5):713-26.