Mutations in MAPT gene cause chromosome instability and introduce copy number variations widely in the genome

Journal of Alzheimer's Disease

Volumn 33, Issue 4, 2013, Pages 969-982

  Rossi, Giacomina ^a   Conconi, Donatella ^b   Panzeri, Elena ^b   Redaelli, Serena ^b,c   Piccoli, Elena ^a   Paoletta, Laura ^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

Chromosome aberrations; DNA copy number variations; genome instability; MAPT; mutation; tau protein; tauopathies

Indexed keywords

DNA; TAU PROTEIN;

ADULT; AGED; ANEUPLOIDY; ARTICLE; CELL STRUCTURE; CHROMATIN; CHROMOSOMAL INSTABILITY; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; CYTOGENETICS; DNA REPAIR; FEMALE; FIBROBLAST; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTOTEMPORAL DEMENTIA; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC STABILITY; GENOME; HISTOPATHOLOGY; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CELL; KARYOTYPING; LYMPHOBLASTOID CELL LINE; LYMPHOCYTE; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION;

EID: 84873678744     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2012-121633     Document Type: Article

References (29)

1. van Swieten J, Spillantini MG (2007) Hereditary frontotemporal dementia caused by Tau gene mutations. Brain Pathol 17, 63-73
2. Morris M, Maeda S, Vossel K, Mucke L (2011) The many faces of tau. Neuron 70, 410-426
3. Sjoberg MK, Shestakova E, Mansuroglu Z, Maccioni RB, Bonnefoy E (2006) Tau protein binds to pericentromeric DNA:Aputative role for nuclear tau in nucleolar organization. J Cell Sci 119, 2025-2034
4. WeiY,QuMH,Wang XS, Chen L,Wang DL, LiuY, Hua Q,He RQ (2008) Binding to the minor groove of the double-strand, tau protein preventsDNAfrom damage by peroxidation. PLoS One 3, e2600
5. Rossi G, Dalpr̀a 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
6. Taylor AM (2001) Chromosome instability syndromes. Best Pract Res Clin Haematol 14, 631-644
7. Lee C, Iafrate AJ, Brothman AR (2007) Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 39 (7 Suppl), S48-S54
8. Rossi G, Bastone A, Piccoli E, Mazzoleni G, Morbin M, Uggetti A, Giaccone G, Sperber S, Beeg M, Salmona M, Tagliavini F (2012) New mutations in MAPT gene causing frontotemporal lobar degeneration: Biochemical and structural characterization. Neurobiol Aging 33, 834.e1-e6
9. Becker NA, Thorland EC, Denison SR, Phillips LA, Smith DI (2002) Evidence that instability within the FRA3B region extends four megabases. Oncogene 21, 8713-8722
10. Smeets DF, Scheres JM, Hustinx TW (1986) The most common fragile site in man is 3p14. Hum Genet 72, 215-220
11. Piotrowski A, Bruder CE, Andersson R, Diaz de Stahl T, Menzel U, Sandgren J, Poplawski A, von Tell D, Crasto C, Bogdan A, Bartoszewski R, Bebok Z, Krzyzanowski M, Jankowski Z, Partridge EC, Komorowski J, Dumanski JP (2008) Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat 29, 1118-1124
12. Mkrtchyan H, Gross M, Hinreiner S, Polytiko A, Manvelyan M, Mrasek K, Kosyakova N, Ewers E, Nelle H, Liehr T, Volleth M, Weise A (2010) Early embryonic chromosome instability results in stable mosaic pattern in human tissues. PLoS One 5, e9591
13. Hastings PJ, Lupski JR, Rosenberg SM, Ira G (2009) Mechanisms of change in gene copy number. Nat Rev Genet 10, 551-564
14. Povirk LF (2006) Biochemical mechanisms of chromosomal translocations resulting from DNA double-strand breaks. DNA Repair 5, 1199-1212
15. Benkhaled L, Xuncl̀aM, Cabalĺin MR, Barrios L, Barquinero JF (2008) Induction of complete and incomplete chromosome aberrations by bleomycin in human lymphocytes. Mut Res 637, 134-141
16. Gueven N, Becherel OJ, Kijas AW, Chen P, Howe O, Rudolph JH, Gatti R, Date H, Onodera O, Taucher-Scholz G, Lavin MF (2004) Aprataxin, a novel protein that protects against genotoxic stress. Hum Mol Genet 13, 1081-1093
17. Hua Q, He RQ (2003) Tau could protect DNA double helix structure. Biochim Biophys Acta 1645, 205-211
18. Granic A, Padmanabhan J, Norden M, Potter H (2010) Alzheimer Abeta peptide induces chromosome missegregation and aneuploidy, including trisomy 21: Requirement for tau and APP. Mol Biol Cell 21, 511-520
19. Lengauer C, Kinzler KW, Vogelstein B (1998) Genetic instabilities in human cancers. Nature 396, 643-649
20. Alonso AC, Mederlyova A, NovakM, Grundke-Iqbal I, Iqbal K (2004) Promotion of hyperphosphorylation by frontotemporal dementia tau mutations. J Biol Chem 279, 34873-34881
21. 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
22. Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, SlaterHR(2009) Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. J Med Genet 46, 123-131
23. Choy K, Setlur S, Lee C, Lau T (2010) The impact of human copy number variation on a new era of genetic testing. BJOG 117, 391-398
24. Wang W (2007) Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet 8, 735-748
25. Hirano M,Yamamoto A, MoriT, Lan L, IwamotoTA, Aoki M, Shimada K, Furiya Y, Kariya S, Asai H, Yasui A, Nishiwaki T, Imoto K, Kobayashi N, Kiriyama T, Nagata T, Konishi N, Itoyama Y, Ueno S (2007) DNA single-strand break repair is impaired in aprataxin-related ataxia. Ann Neurol 61, 162-174
26. Neubauer S, Arutyunyan R, Stumm M, Dörk T, Bendix R, Bremer M,Varon R, Sauer R, GebhartE(2002) Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting. Radiat Res 157, 312-321
27. Pastor P, Pastor E, Carnero C, Vela R, Garćia T, Amer G, Tolosa E, Oliva R Pastor (2001) Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. Ann Neurol 49, 263-267
28. Sultan A, Nesslany F, Violet M, B́egard S, Loyens A, Talahari S, Mansuroglu Z, Marzin D, Sergeant N, Humez S, Colin M, Bonnefoy E, Búee L, Galas MC (2011) Nuclear tau, a key player in neuronal DNA protection. J Biol Chem 286, 4566-4575
29. Iourov IY, Vorsanova SG, Liehr T, Yurov YB (2009) Aneuploidy in the normal, Alzheimer's disease and ataxiatelangiectasia brain: Differential expression and pathological meaning. Neurobiol Dis 34, 212-220