Identification of loci determining susceptibility to the lethal effects of amyloid precursor protein transgene overexpression

Human Molecular Genetics

Volumn 13, Issue 18, 2004, Pages 1989-1997

  Krezowski, Joseph ^a   Knudson, Danielle ^a   Ebeling, Christine ^a   Pitstick, Rose ^a   Giri, Ranjit K ^a   Schenk, Dale ^b   Westaway, David ^c   Younkin, Linda ^d   Younkin, Stven G ^d   Ashe, Karen Hsiao ^e   Carlson, George A ^a  

^a MCLAUGHLIN RESEARCH INSTITUTE   (United States)

^b ELAN PHARMACEUTICALS   (United States)

^c UNIVERSITY OF TORONTO   (Canada)

^d MAYO CLINIC   (United States)

^e UNIVERSITY OF MINNESOTA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; PRESENILIN 1;

AGE; ALLELE; ALZHEIMER DISEASE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BACKCROSSING; BLOOD ANALYSIS; BLOOD LEVEL; CHROMOSOME 10; CHROMOSOME 14; CHROMOSOME 9; CHROMOSOME STRUCTURE; CONTROLLED STUDY; CROSSING OVER; DEATH; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE OVEREXPRESSION; GENETIC CROSS; GENETIC LINKAGE; GENETIC RESISTANCE; GENETIC SUSCEPTIBILITY; HUMAN; LETHAL GENE; LETHALITY; MOUSE; MOUSE STRAIN; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; PROGENY; QUANTITATIVE TRAIT; STATISTICAL SIGNIFICANCE; STRUCTURAL HOMOLOGY; TRANSGENE;

ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; AMYLOID BETA-PROTEIN PRECURSOR; ANIMALS; CHROMOSOME MAPPING; GENES, LETHAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MICE; MICE, MUTANT STRAINS; PEPTIDE FRAGMENTS; PHENOTYPE; TRANSGENES;

EID: 5744230325     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh210     Document Type: Article

References (50)

1. Price, D.L., Tanzi, R.E., Borchelt, D.R. and Sisodia, S.S. (1998) Alzheimer's disease: genetic studies and transgenic models. Annu. Rev. Genet., 32, 461-493.
2. Wong, P.C., Cai, H., Borchelt, D.R. and Price, D.L. (2002) Genetically engineered mouse models of neurodegenerative diseases. Nat. Neurosci., 5, 633-639.
3. Scott, M., Foster, D., Mirenda, C., Serban, D., Coufal, F., Wächli, M., Torchia, M., Groth, D., Carlson, G., DeArmond, S.J. et al. (1989) Transgenic mice expressing hamster prion protein produce species-specific scrapie infectivity and amyloid plaques. Cell, 59, 847-857.
4. Scott, M.R., Kohler, R., Foster, D. and Prusiner, S.B. (1992) Chimeric prion protein expression in cultured cells and transgenic mice. Protein Sci., 1, 986-997.
5. Taketo, M., Schroeder, A.C., Mobraaten, L.E., Gunning, K.B., Hanten, G., Fox, R.R., Roderick, T.H., Stewart, C.L., Lilly, F., Hansen, C.T. et al. (1991) FVB/N: an inbred mouse strain preferable for transgenic analysis. Proc. Natl Acad. Sci. USA, 88, 2065-2069.
6. Hsiao, K.K., Borchelt, D.R., Olson, K., Johannsdottir, R., Kitt, C., Yunis, W., Xu, S., Eckman, C., Younkin, S., Price, D. et al. (1995) Age-related CNS disorder and early death in transgenic FVB/N mice overexpressing Alzheimer amyloid precursor proteins. Neuron, 15, 1203-1218.
7. Prusiner, S.B. (1998) Prions. Proc. Natl Acad. Sci. USA 95, 13363-13383.
8. Citron, M., Westaway, D., Xia, W., Carlson, G., Diehl, T., Levesque, G., Johnson-Wood, K., Lee, M., Seubert, P., Davis, A. et al. (1997) Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. Nat. Med., 3, 67-72.
9. Moore, R.C., Mastrangelo, P., Bouzamondo, E., Heinrich, C., Legname, G., Prusiner, S.B., Hood, L., Westaway, D., DeArmond, S.J. and Tremblay, P. (2001) Doppel-induced cerebellar degeneration in transgenic mice. Proc. Natl Acad. Sci. USA, 98, 15288-15293.
10. Carlson, G.A., Borchelt, D.R., Dake, A., Turner, S., Danielson, V., Coffin, J.D., Eckman, C., Meiners, J., Nilsen, S.P., Younkin, S.G. et al. (1997) Genetic modification of the phenotypes produced by amyloid precursor protein overexpression in transgenic mice. Hum. Mol. Genet., 6, 1951-1959.
11. Hsiao, K., Chapman, P., Nilsen, S., Eckman, C., Harigaya, Y., Younkin, S., Yang, F. and Cole, G. (1996) Correlative memory deficits, Aβ elevation, and amyloid plaques in transgenic mice. Science, 274, 99-102.
12. Moechars, D., Lorent, K., De Strooper, B., Dewachter, I. and 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 1265-1274.
13. Moechars, D., Dewachter, I., Lorent, K., Reverse, D., Baekelandt, V., Naidu, A., Tesseur, I., Spittaels, K., Haute, C.V., Checler, F. et al. (1999) Early phenotypic changes in transgenic mice that overexpress different mutants of amyloid precursor protein in brain. J. Biol. Chem., 274, 6483-6492.
14. Sturchler-Pierrat, C., Abramowski, D., Duke, M., Wiederhold, K.H., Mistl, C., Rothacher, S., Ledermann, B., Bürki, K., Frey, P., Paganetti, P.A. et al. (1997) Two amyloid precursor protein transgenic mouse models with Alzheimer disease-like pathology. Proc. Natl Acad. Sci. USA, 94, 13287-13292.
15. Bondolfi, L., Calhoun, M., Ermini, F., Kuhn, H.G., Wiederhold, K.H., Walker, L., Staufenbiel, M. and Jucker, M. (2002) Amyloid-associated neuron loss and gliogenesis in the neocortex of amyloid precursor protein transgenic mice. J. Neurosci., 22, 515-522.
16. Bayer, T.A., Schafer, S., Simons, A., Kemmling, A., Kamer, T., Tepest, R., Eckert, A., Schussel, K., Eikenberg, O., Sturchler-Pierrat, C. et al. (2003) Dietary Cu stabilizes brain superoxide dismutase 1 activity and reduces amyloid Abeta production in APP23 transgenic mice. Proc. Natl Acad. Sci. USA, 100, 14187-14192.
17. Lamb, B.T., Sisodia, S.S., Lawler, A.M., Slunt, H.H., Kitt, C.A., Kearns, W.G., Pearson, P.L., Price, D.L. and Gearhart, J.D. (1993) Introduction and expression of the 400 kilobase precursor amyloid protein gene in transgenic mice. Nat. Genet., 5, 22-30.
18. Games, D., Adams, D., Alessandrini, R., Barbour, R., Berthelette, P., Blackwell, C., Carr, T., Clemens, J., Donaldson, T., Gillespie, F. et al. (1995) Alzheimer-type neuropathology in transgenic mice overexpressing V717F β-amyloid precursor protein. Nature, 373, 523-527.
19. Janus, C., Chishti, M.A. and Westaway, D. (2000) Transgenic mouse models of Alzheimer's disease. Biochim. Biophys. Acta, 1502, 63-75.
20. Westerman, M.A., Cooper-Blacketer, D., Mariash, A., Kotilinek, L., Kawarabayashi, T., Younkin, L.H., Carlson, G.A., Younkin, S.G. and Ashe, K.H. (2002) The relationship between Abeta and memory in the Tg2576 mouse model of Alzheimer's disease. J. Neurosci., 22 1858-1867.
21. Owen, E.H., Logue, S.F., Rasmussen, D.L. and Wehner, J.M. (1997) Assessment of learning by the Morris water task and fear conditioning in inbred mouse strains and F1 hybrids: implications of genetic background for single gene mutations and quantitative trait loci analyses. Neuroscience, 80, 1087-1099.
22. Schenk, D., Barbour, R., Dunn, W., Gordon, G., Grajeda, H., Guido, T., Hu, K., Huang, J., Johnson-Wood, K., Khan, K. et al. (1999) Immunization with amyloid-β attenuates Alzheimer-disease-like pathology in the PD-APP mouse. Nature, 400, 173-177.
23. Janus, C., Pearson, J., McLaurin, J., Mathews, P.M., Jiang, Y., Schmidt, S.D., Chishti, M.A., Horne, P., Heslin, D., French, J. et al. (2000) Aβ peptide immunization reduces behavioural impairment and plaques in a model of Alzheimer's disease. Nature, 408, 979-982.
24. Kotilinek, L.A., Bacskai, B., Westerman, M., Kawarabayashi, T., Younkin, L., Hyman, B.T., Younkin, S. and Ashe, K.H. (2002) Reversible memory loss in a mouse transgenic model of Alzheimer's disease. J Neurosci., 22, 6331-6335.
25. Dodart, J.C., Bales, K.R., Gannon, K.S., Greene, S.J., DeMattos, R.B., Mathis, C., DeLong, C.A., Wu, S., Wu, X., Holtzman, D.M. et al. (2002) Immunization reverses memory deficits without reducing brain Abeta burden in Alzheimer's disease model. Nat. Neurosci., 5, 452-457.
26. Bard, F., Barbour, R., Cannon, C., Carretto, R., Fox, M., Games, D., Guido, T., Hoenow, K., Hu, K., Johnson-Wood, K. et al. (2003) Epitope and isotype specificities of antibodies to beta-amyloid peptide for protection against Alzheimer's disease-like neuropathology. Proc. Natl Acad. Sci. USA, 100, 2023-2028.
27. Poduslo, J.F. and Curran, G.L. (2001) Amyloid beta peptide as a vaccine for Alzheimer's disease involves receptor-mediated transport at the blood-brain barrier. Neuroreport, 12, 3197-3200.
28. Iadecola, C., Zhang, F., Niwa, K., Eckman, C., Turner, S.K., Fischer, E., Younkin, S., Borchelt, D.R., Hsiao, K.K. and Carlson, G.A. (1999) SOD1 rescues cerebral endothelial dysfunction in mice overexpressing amyloid precursor protein. Nat. Neurosci., 2, 157-161.
29. Jantzen, P.T., Connor, K.E., DiCarlo, G., Wenk, G.L., Wallace, J.L., Rojiani, A.M., Coppola, D., Morgan, D. and Gordon, M.N. (2002) Microglial activation and beta-amyloid deposit reduction caused by a nitric oxide-releasing nonsteroidal anti-inflammatory drug in amyloid precursor protein plus presenilin-1 transgenic mice. J Neurosci., 22, 2246-2254.
30. Lim, G.P., Chu, T., Yang, F., Beech, W., Frautschy, S.A. and Cole, G.M. (2001) The curry spice curcumin reduces oxidative damage and amyloid pathology in an alzheimer transgenic mouse. J Neurosci., 21, 8370-8377.
31. Lim, G.P., Yang, F., Chu, T., Gahtan, E., Ubeda, O., Beech, W., Overmier, J.B., Hsiao-Ashe, K., Frautschy, S.A. and Cole, G.M. (2001) Ibuprofen effects on Alzheimer pathology and open field activity in APPsw transgenic mice. Neurobiol. Aging, 22, 983-991.
32. Darvasi, A and Soller, M. (1992) Selective genotyping for determination of linkage between a marker locus and a quantitative trait locus. Theor. Appl. Genet., 85, 353-359.
33. Lynch, M. and Walsh, B. (1998) Genetics and Analysis of Quantitative Traits. Sinauer, Sunderland, MA.
34. Churchill, G.A. and Doerge, R.W. (1994) Empirical threshold values for quantitative trait mapping. Genetics, 138, 963-971.
35. Doerge, R.W. and Churchill, G.A. (1996) Permutation tests for multiple loci affecting a quantitative character. Genetics, 142 285-294.
36. Manly, K.F. and Olson, J.M. (1999) Overview of QTL mapping software and introduction to Map Manager QT. Mammal. Genome, 10 327-334.
37. Myers, A., Holmans, P., Marshall, H., Kwon, J., Meyer, D., Ramic, D., Shears, S., Booth, J., DeVrieze, F.W., Crook, R. et al. (2000) Susceptibility locus for Alzheimer's disease on chromosome 10. Science 290, 2304-2305.
38. Ertekin-Taner, N., Graff-Radford, N., Younkin, L.H., Eckman, C., Baker, M., Adamson, J., Ronald, J., Blangero, J., Hutton, M. and Younkin, S.G. (2000) Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees. Science, 290, 2303-2304.
39. Bertram, L., Blacker, D., Mullin, K., Keeney, D., Jones, J., Basu, S., Yhu, S., McInnis, M.G., Go, R.C., Vekrellis, K. et al. (2000) Evidence for genetic linkage of Alzheimer's disease to chromosome 10q. Science, 290, 2302-2303.
40. Stephenson, D.A., Chiotti, K., Ebeling, C., Groth, D., DeArmond, S.J., Prusiner, S.B. and Carlson, G.A. (2000) Quantitative trait loci affecting prion incubation time in mice. Genomics, 69 47-53.
41. Melchor, J.P., Pawlak, R., Chen, Z. and Strickland, S. (2003) The possible role of tissue-type plasminogen activator (tPA) and tPA blockers in the pathogenesis and treatment of Alzheimer's disease. J. Mol. Neurosci., 20, 287-289.
42. Niwa, K., Younkin, L., Ebeling, C., Turner, S.K., Westaway, D., Younkin, S., Ashe, K.H., Carlson, G.A. and Iadecola, C. (2000) Aβ1-40-related reduction in functional hyperemia in mouse neocortex during somatosensory activation. Proc. Natl Acad. Sci, USA, 97 9735-9740.
43. Niwa, K., Kazama, K., Younkin, L., Younkin, S.G., Carlson, G.A. and Iadecola, C. (2002) Cerebrovascular autoregulation is profoundly impaired in mice overexpressing amyloid precursor protein. Am. J Physiol. Heart Circ. Physiol., 283, H315-323.
44. Cha, J.H., Farrell, L.A., Ahmed, S.F., Frey, A., Hsiao-Asbe, K.K., Young, A.B., Penney, J.B., Locascio, J.J., Hyman, B.T. and Irizarry, M.C. (2001) Glutamate receptor dysregulation in the hippocampus of transgenic mice carrying mutated human amyloid precursor protein. Neurobiol. Dis., 8, 90-102.
45. Coffin, J.D., Florkiewicz, R.Z., Neumann, J., Mort-Hopkins, T., Dorn, G.W., Lightfoot, P., German, R., Howles, P.N., Kier, A., O'Toole, B.A. et al. (1995) Abnormal bone growth and selective translational regulation in basic fibroblast growth factor transgenic mice. Mol. Biol. Cell, 6, 1861-1873.
46. White, A.R., Reyes, R., Mercer, J.F., Camakaris, J., Zheng, H., Bush, A.I., Multhaup, G., Beyreuther, K., Masters, C.L. and Cappai, R. (1999) Copper levels are increased in the cerebral cortex and liver of APP and APLP2 knockout mice. Brain Res., 842, 439-444.
47. Phinney, A.L., Drisaldi, B., Schmidt, S.D., Lugowski, S., Coronado, V., Liang, Y., Horne, P., Yang, J., Sekoulidis, J., Coomaraswamy, J. et al. (2003) In vivo reduction of amyloid-beta by a mutant copper transporter. Proc. Natl Acad Sci. USA, 100, 14193-14198.
48. Li, L., Cao, D., Garber, D.W., Kim, H. and Fukuchi, K. (2003) Association of aortic atherosclerosis with cerebral beta-amyloidosis and learning deficits in a mouse model of Alzheimer's disease. Am. J Pathol., 163, 2155-2164.
49. Snell, G.D. (1948) Methods for the study of histocompatibility genes. J Genet., 49, 87-108
50. Scheuner, D., Eckman, C., Jensen, M., Song, X., Citron, M., Suzuki, N., Bird, T.D., Hardy, J., Hutton, M., Kukull, W. et al. (1996) Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nat. Med. 2, 864-870.