Mutations in MAPT give rise to aneuploidy in animal models of tauopathy

Neurogenetics

Volumn 15, Issue 1, 2014, Pages 31-40

  Rossi, Giacomina ^a   Conconi, Donatella ^b   Panzeri, Elena ^b   Paoletta, Laura ^a   Piccoli, Elena ^a   Ferretti, Maria Giulia ^a   Mangieri, Michela ^a   Ruggerone, Margherita ^a   Dalprà, Leda ^b,c   Tagliavini, Fabrizio ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c SAN GERARDO HOSPITAL   (Italy)

Author keywords

Aneuploidy; Animal models; Cytogenetics; MAPT; Mutation; Tau; Tauopathy

Indexed keywords

TAU PROTEIN;

ANEUPLOIDY; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN ATROPHY; CENTRAL NERVOUS SYSTEM; CHROMOSOMAL INSTABILITY; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DEMENTIA; FRONTOTEMPORAL DEMENTIA; GENE; GENE DOSAGE; GENE MUTATION; GENETIC STABILITY; HEMIZYGOSITY; HOMOZYGOSITY; MAPT GENE; MOUSE; NERVE DEGENERATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; SPLEEN LYMPHOCYTE; TAUOPATHY;

ANEUPLOIDY; ANIMALS; CHROMOSOME MAPPING; DISEASE MODELS, ANIMAL; GENE DOSAGE; GENE EXPRESSION REGULATION; GENOME; HEMIZYGOTE; HOMOZYGOTE; HUMANS; KARYOTYPING; LYMPHOCYTES; MICE; MICE, TRANSGENIC; MUTATION; SPLEEN; TAU PROTEINS; TAUOPATHIES;

EID: 84897954434     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-013-0380-y     Document Type: Article

References (23)

1. Ingelson M, Vanmechelen E, Lannfelt L (1996) Microtubule-associated protein tau in human fibroblasts with the Swedish Alzheimer mutation. Neurosci Lett 220:9-12
2. Thurston VC, Zinkowski RP, Binder LI (1996) Tau as a nucleolar protein in human nonneural cells in vitro and in vivo. Chromosoma 105:20-30
3. Rossi G, Dalprà L, Crosti F, Lissoni S, Sciacca FL, Catania M, Di Fede G, Mangieri M, Giaccone G, Croci D, Tagliavini F (2008) A new function of microtubule-associated protein tau: involvement in chromosome stability. Cell Cycle 7:1788-1794
4. Morris M, Maeda S, Vossel K, Mucke L (2011) The many faces of tau. Neuron 70:410-426
5. Sjoberg MK, Shestakova E, Mansuroglu Z, Maccioni RB, Bonnefoy E (2006) Tau protein binds to pericentromeric DNA: a putative role for nuclear tau in nucleolar organization. J Cell Sci 119:2025-2034
6. Wei Y, Qu MH, Wang XS, Chen L, Wang DL, Liu Y, Hua Q, He RQ (2008) Binding to the minor groove of the double-strand, tau protein prevents DNA from damage by peroxidation. PLoS One 3:e2600
7. Sultan A, Nesslany F, Violet M, Bégard S, Loyens A, Talahari S, Mansuroglu Z, Marzin D, Sergeant N, Humez S, Colin M, Bonnefoy E, Buée L, Galas MC (2011) Nuclear tau, a key player in neuronal DNA protection. J Biol Chem 286:4566-4575
8. Rossi G, Conconi D, Panzeri E, Redaelli S, Piccoli E, Paoletta L, Dalprà L, Tagliavini F (2013) Mutations in MAPT gene cause chromosome instability and introduce copy number variations widely in the genome. J Alzheimers Dis 33:969-982
9. Granic A, Padmanabhan J, Norden M, Potter H (2010) Alzheimer Abeta peptide induces chromosome mis-segregation and aneuploidy, including trisomy 21: requirement for tau and APP. Mol Biol Cell 21:511-520
10. van Swieten J, Spillantini MG (2007) Hereditary frontotemporal dementia caused by Tau gene mutations. Brain Pathol 17:63-73
11. Lewis J, McGowan E, Rockwood J, Melrose H, Nacharaju P, Van Slegtenhorst M, Gwinn-Hardy K, Paul Murphy M, Baker M, Yu X, Duff K, Hardy J, Corral A, Lin WL, Yen SH, Dickson DW, Davies P, Hutton M (2000) Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein. Nat Genet 4:402-405
12. Lin WL, Lewis J, Yen SH, Hutton M, Dickson DW (2003) Filamentous tau in oligodendrocytes and astrocytes of transgenic mice expressing the human tau isoform with the P301L mutation. Am J Pathol 162:213-218
13. Bhaskar K, Hobbs GA, Yen SH, Lee G (2010) Tyrosine phosphorylation of tau accompanies disease progression in transgenic mouse models of tauopathy. Neuropathol Appl Neurobiol 36:462-477
14. Yoshiyama Y, Higuchi M, Zhang B, Huang SM, Iwata N, Saido TC, Maeda J, Suhara T, Trojanowski JQ, Lee VM (2007) Synapse loss and microglial activation precede tangles in a P301S tauopathy mouse model. Neuron 53:337-351, Erratum in: Neuron. 54:343-344
15. de Barreda EG, Dawson HN, Vitek MP, Avila J (2010) Tau deficiency leads to the upregulation of BAF-57, a protein involved in neuron-specific gene repression. FEBS Lett 584:2265-2270
16. Eppig JT, Bult CJ, Kadin JA, Richardson JE, Blake JA, Anagnostopoulos A, Baldarelli RM, Baya M, Beal JS, Bello SM, Boddy WJ, Bradt DW, Burkart DL, Butler NE, Campbell J, Cassell MA, Corbani LE, Cousins SL, Dahmen DJ, Dene H, Diehl AD, Drabkin HJ, Frazer KS, Frost P, Glass LH, Goldsmith CW, Grant PL, Lennon-Pierce M, Lewis J, Lu I, Maltais LJ, McAndrews-Hill M, McClellan L, Miers DB, Miller LA, Ni L, Ormsby JE, Qi D, Reddy TB, Reed DJ, Richards-Smith B, Shaw DR, Sinclair R, Smith CL, Szauter P, Walker MB, Walton DO, Washburn LL, Witham IT, Zhu Y; Mouse Genome Database Group (2005) The Mouse Genome Database (MGD): from genes to mice - a community resource for mouse biology. Nucleic Acids Res 33(Database issue):D471-475
17. Ittner LM, Ke YD, Delerue F, Bi M, Gladbach A, van Eersel J, Wölfing H, Chieng BC, Christie MJ, Napier IA, Eckert A, Staufenbiel M, Hardeman E, Götz J (2010) Dendritic function of tau mediates amyloid-beta toxicity in Alzheimer's disease mouse models. Cell 142:387-397
18. Hua Q, He RQ (2003) Tau could protect DNA double helix structure. Biochim Biophys Acta 1645:205-211
19. Borchelt DR, Davis J, Fischer M, Lee MK, Slunt HH, Ratovitsky T, Regard J, Copeland NG, Jenkins NA, Sisodia SS, Price DL (1996) A vector for expressing foreign genes in the brains and hearts of transgenic mice. Genet Anal 13:159-163
20. Wang Y, Loomis PA, Zinkowski RP, Binder LI (1993) A novel tau transcript in cultured human neuroblastoma cells expressing nuclear tau. J Cell Biol 121:257-267
21. Greenwood JA, Johnson GV (1995) Localization and in situ phosphorylation state of nuclear tau. Exp Cell Res 220:332-337
22. Bunker JM, Kamath K, Wilson L, Jordan MA, Feinstein SC (2006) FTDP-17 mutations compromise the ability of tau to regulate microtubule dynamics in cells. J Biol Chem 281:11856-11863
23. Iourov IY, Vorsanova SG, Liehr T, Yurov YB (2009) Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: differential expression and pathological meaning. Neurobiol Dis 34:212-220