An Alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos

Neuron

Volumn 20, Issue 3, 1998, Pages 603-609

  Davis, Janine A ^a   Naruse, Satoshi ^a   Chen, Hua ^a   Eckman, Chris ^b   Younkin, Steven ^b   Price, Donald L ^a   Borchelt, David R ^a   Sisodia, Sangram S ^a   Wong, Philip C ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; PRESENILIN 1;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; EMBRYOPATHY; FEMALE; GENE EXPRESSION; GENE MUTATION; MALE; MESODERM; MOUSE; NEURAL TUBE; NEWBORN; NONHUMAN; PRIORITY JOURNAL; SKELETON MALFORMATION; TRANSGENIC MOUSE;

EID: 0032032019     PISSN: 08966273     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-6273(00)80998-8     Document Type: Article

References (40)

1. Alzheimer's Disease Collaborative Group (1995). The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nature Genet. 11, 219-222.
2. Artavanis-Tsakonas, S., Matsuno, K., and Fortini, M.E. (1995). Notch signaling. Science 268, 225-232.
3. Baumeister, R., Leimer, U., Zweckbronner, I., Constanze, J., Grunberg, J., and Haass, C. (1997). Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signaling independently of proteolytic processing. Genes Funct. 1, 149-159.
4. Borchelt, D.R., Thinakaran, G., Eckman, C.B., Lee, M.K., Davenport, F., Ratovitsky, T., Prada, C.-M., Kim, G., Seekins, S., Yager, D., et al. (1996). Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ1-42/1-40 ratio in vitro and in vivo. Neuron 17, 1005-1013.
5. Borchelt, D.R., Ratovitski, T., van Lare, J., Lee, M.K., Gonzales, V., Jenkins, N.A., Copeland, N.G., Price, D.L., and Sisodia, S.S. (1997). Accelerated amyloid deposition in the brains of transgenic mice coexpressing mutant presenilin 1 and amyloid precursor proteins. Neuron 19, 939-945.
6. Campion, D., Flaman, J.M., Brice, A., Mannequin, D., Dubois, B., Martin, C., Moreau, V., Charbonnier, F., Didierjean, O., Tardieu, S., et al. (1995). Mutations of the presenilin 1 gene infamilies with early onset Alzheimer's disease. Hum. Mol. Genet. 4, 2373-2377.
7. Chapman, J., Asherov, A., Wang, N., Treves, T.A., Korczyn, A.D., and Goldfarb, L.G. (1995). Familial Alzheimer's disease associated with S182 codon 286 mutation. Lancet 346, 1040.
8. Chartier-Harlin, M.-C., Crawford, F., Houlden, H., Warren, A., Hughes, D., Fidani, L., Goate, A., Rossor, M., Roques, P., Hardy, J., and Mullan, M. (1991). Early onset Alzheimer's desease caused by mutations at codon 717 of the β-amyloid precursor protein gene. Nature 353, 844-846.
9. 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 β-protein in both transfected cells and transgenic mice. Nature Med. 3, 67-72.
10. Conlon, R.A., Reaume, A.G., and Rossant, J. (1995). Notch1 is required for the coordinate segmentation of somites. Development 121, 1533-1545.
11. Cruts, M., Hendriks, L., and Van Broeckhoven, C. (1996). The presenilin genes: a new gene family involved in Alzheimer's disease pathology. Hum. Mol. Genet. 5, 1449-1455.
12. Davis, J.A., and Reed, R.R. (1996). Role of Olf-1 and Pax-6 transcription factors in neurodevelopment. J. Neurosci. 16, 5082-5094.
13. Duff, K., Eckman, C., Zehr, C., Yu, X., Prada, C., Perez-tur, J., Hutton, M., Buee, L., Harigaya, Y., Yager, D., et al. (1996). Increased amyloid-β42(43) in brain of mice expressing mutant presenilin 1. Nature 383, 710-713.
14. Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Fiuffra, L., Haynes, A., Irving, N., James, L., et al. (1991). Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349, 704-706.
15. Hendricks, L., van Duijn, C.M., Cras, P., Cruts, M., Van Hul, W., van Harskamp, F., Warren, A., McInnes, M.G., Antonarakis, S.E., Martin, J.-J., Hofman, A., and Van Broeckhoven, C. (1992). Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β-amyloid precursor protein gene. Nature Genet. 1, 218-221.
16. Hogan, B., Beddington, R., Costantini, F., and Lacy, E. (1994). Manipulating the Mouse Embryo: a Laboratory Manual, Second Edition (Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press).
17. Hrabe de Angelis, M., McIntyre, J., II, and Gossler, A. (1997). Maintenance of somite borders in mice requires the Delta homolog Dll1. Nature 386, 717-721.
18. Lah, J.J., Heilman, C.J., Nash, N.R., Rees, H.D., Yi, H., Counts, S.E., and Levey, A.I. (1997). Light and electron microscopic localization of presenilin-1 in primate brain. J. Neurosci. 17, 1971-1980.
19. Lee, M.K., Borchelt, D.R., Kim, G., Thinakaran, G., Slunt, H.H., Ratovitski, T., Martin, L.J., Kittur, A., Gandy, S., Levey, A.I., et al. (1997). Hyperaccumulation of FAD-linked presenilin 1 variants in vivo. Nature Med. 3, 756-760.
20. Levitan, D., and Greenwald, I. (1995). Facilitation of lin-12-mediated signaling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature 377, 351-354.
21. Levitan, D., Doyle, T.G., Brousseau, D., Lee, M.K., Thinakaran, G., Slunt, H.H., Sisodia, S.S., and Greenwald, I. (1996). Assessment of normal and mutant human presenilin function in Caenorhabditis elegans. Proc. Natl. Acad. Sci. USA 93, 14940-14944.
22. Levy-Lahad, E., Wasco, W., Poorkaj, P., Romano, D.M., Oshima, J., Pettingell, W.H., Yu, C.-E., Jondro, P.D., Schmidt, S.D., Wang, K., et al. (1995). Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269, 973-977.
23. Li, L., Krantz, I.D., Deng, Y., Genin, A., Banta, A.B., Collins, C.C., Qi, M., Trask, B.J., Kuo, W.L., Cochran, J., et al. (1997). Alagille syndrome is caused by mutations in human Jaggedl, which encodes a ligand for Notch1. Nature Genet. 16, 243-251.
24. Mullan, M., Crawford, F., Axelman, K., Houlden, H., Lillius, L., Winblad, B., and Lannfelt, L. (1992). A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N terminus of β-amyloid. Nature Genet. 1, 345-347.
25. Naruse, S., Igarashi, S., Kobayashi, H., Aoki, K., Inuzuka, T., Kaneko, K., Shimizu, T., Iihara, K., Kojima, T., Miyatke, T., and Tsuji, S. (1991). Mis-sense mutation Val to lle in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. Lancet 337, 978-979.
26. Nickerson, E., Greenberg, F., Keating, M.T., McCaskill, C., and Shaffer, L.G. (1995). Deletions of the elastin gene at 7q11.23 occur in ∼90% of patients with Williams syndrome. Am. J. Hum. Genet. 56, 1156-1161.
27. Oda, T., Elkahloun, A.G., Pike, B.L., Okajima, K., Krantz, I.D., Genin, A., Piccoli, D.A., Meltzer, P., Spinner, N.B., Collins, F.S., and Chandrasekharappa, S.C. (1997). Mutations in the human Jagged 1 Gene (JAGL1) are responsible for the Alagille syndrome. Nature Genet. 16, 235-242.
28. Petrij, F., Giles, R.H., Dauwerse, H.G., Saris, J.J., Hennekam, R.C.M., Masuno, M., Tommerup, N., van Ommen, G.B., Goodman, R.H., Peters, D.J.M., and Breuning, M.H. (1995). Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376, 348-351.
29. Rogaev, E.I., Sherrington, R., Rogaeva, E.A., Levesque, G., Ikeda, M., Liang, Y., Chi, H., Lin, C., Holman, K., Tsuda, T., et al. (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, 775-778.
30. 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 beta-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. Nature Med. 2, 864-870.
31. Shen, J., Bronson, R.T., Chen, D.F., Xia, W., Selkoe, D.J., and Tonegawa, S. (1997). Skeletal and CNS defects in Presenilin-1-deficient mice. Cell 89, 629-639.
32. Sherrington, R., Rogaev, E.I., Liang, Y., Rogaeva, E.A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., et al. (1995). Cloning of a gene bearing missense mutations in early onset familial Alzheimer's disease. Nature 375, 754-760.
33. St. George-Hyslop, P.H., Haines, P., Rogaev, E., Mortilla, M., Vaula, G., Pericak-Vance, M., Foncin, J.-F., Montesi, M., Bruni, A., Sorbi, S., et al. (1992). Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nature Genet. 2, 330-334.
34. Sundin, O., and Eichele, G. (1992). An early marker of axial pattern in the chick embryo and itsrespecification by retinoic acid. Development 114, 841-852.
35. Suzuki, N., Cheung, T.T., Cai, X.-D., Odaka, A., Otvos, L., Jr., Eckman, C., Golde, T.E., and Younkin, S.G. (1994). An increased percentage of long amyloid β protein secreted by familial amyloid β protein precursor (βAPP717) mutants. Science 264, 1336-1340.
36. Swiatek, P.J., Lindsell, C.E., Franco del Amo, F., Weinmaster, G., and Gridley, T. (1994). Notchl is essential for postimplantation development in mice. Genes Dev. 8, 707-719.
37. Thinakaran, G., Borchelt, D.R., Lee, M.K., Slunt, H.H., Spitzer, L., Kim, G., Ratovitski, T., Davenport, F., Nordstedt, C., Seeger, M., et al. (1996). Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. Neuron 17, 181-190.
38. Thinakaran, G., Harris, C.L., Ratovitski, T., Davenport, F., Slunt, H.H., Price, D.L., Borchelt, D.R., and Sisodia, S.S. (1997). Evidence that levels of presenilins (PS1 and PS2) are coordinately regulated by competition for limiting cellular factors. J. Biol. Chem. 272, 28415-28422.
39. Wasco, W., Pettingell, W.P., Jondro, P.D., Schmidt, S.D., Gurubhagavatula, S., Rodes, L., DiBlasi, T., Romano, D.M., Guenette, S.Y., Kovacs, D.M., et al. (1995). Familial Alzheimer's chromosome 14 mutations. Nature Med. 1, 848.
40. Wong, P.C., Zheng, H., Chen, H., Becher, M.W., Sirinathsinghji, D.J.S., Trumbauer, M.E., Chen, H.Y., Price, D.L., Van der Ploeg, L.H.T., and Sisodia, S.S. (1997). Presenilin 1 is required for Notch1 and Dll1 expression in the paraxial mesoderm. Nature 387, 288-292.