Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease

Human Molecular Genetics

Volumn 7, Issue 1, 1998, Pages 43-51

  Cruts, Marc ^a   Van Duijn, Cornelia M ^b   Backhovens, Hubert ^a   Van Den Broeck, Marieen ^a   Wehnert, Anita ^a   Serneels, Sally ^a   Sherrington, Robin ^c   Hutton, Michael ^d   Hardy, John ^d   St George Hyslop, Peter H ^c   Hofman, Albert ^b   Van Broeckhoven, Christine ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c UNIVERSITY OF TORONTO   (Canada)

^d MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; PRESENILIN 1; PRESENILIN 2;

ADULT; ALZHEIMER DISEASE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 14Q; CHROMOSOME 1Q; CONTROLLED STUDY; EXON; FAMILY HISTORY; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATION RATE; ONSET AGE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRESENILE DEMENTIA; PRIORITY JOURNAL; PROMOTER REGION;

AGED; ALZHEIMER DISEASE; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; POLYMORPHISM, GENETIC; PRESENILIN-1; PRESENILIN-2;

EID: 6844255860     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.1.43     Document Type: Article

References (35)

1. Van Broeckhoven, C. (1995) Molecular genetics of Alzheimer disease: identification of genes and gene mutations. Eur. Neurol., 35, 8-19.
2. Goate,A., Chartier-Harlin,M., Mullan,M., Brown,J., Crawford,F., Fidani,L., Giuffira,L., Haynes,A., Irving,N., James,L., Mant,R., Newton,P., Rooke,K., Roques,P., Talbot,C., Pericak-Vance,M., Roses,A., Williamson,R., Rossor,M., Owen,M. and Hardy,J. (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature, 349, 704-706.
3. Sherrington,R., Rogaev,E.I., Liang,Y., Rogaeva,E.A., Levasque,G., Ikeda,M., Chi,H., Lin,C., Li,G., Holman,K., Tsuda,T., Mar,L., Foncin,J.F., Bruni,A.C., Montesi,M.P., Sorbi,S., Rainero,I., Pinessi,L., Nee,L., Chumakov,I., Pollen,D., Brookes,A., Sansosu,P., Polinsky,R.J., Wasco,W., Da Silva,H.A.R., Haines,J.L., Pericak-Vance,M.A., Tanzi,R.E., Roses,A.D., Fraser,P.E., Rommens,J.M. and St George-Hyslop,P. (1995) Cloning of a gene bearing mis-sense mutations in early-onset familial Alzheimer's disease. Nature, 375, 754-760.
4. Levy-Lahad,E., Wasco,W., Poorkaj,P., Romano,D.M., Oshima,J., Pettingell,W.H., Yu,C., Jondro,P.D., Schmidt,S.D., Wang,K., Crowley,A.C., Fu,Y., Guenette,S.Y, Galas,D., Nemens,E., Wijsman,E.M., Bird,T.D., Schellenberg,G.D. and Tanzi,R.E. (1995) Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science, 269, 973-977.
5. Rogaev,E.I., Sherrington,R., Rogeava,E.A., Levesque,G., Ikeda,M., Liang,Y., Chi,H., Lin,C., Holman,K., Tsuda,T., Mar,L., Sorbi,S., Nacmias,B., Piancentini,S., Amaducci,L., Chumakov,I., Cohen,D., Lannfelt,L., Fraser,P.E., Rommens,J.M. and St George-Hyslop,P.H. (1995) Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome I related to the Alzheimer's disease type 3 gene. Nature. 376, 775-778.
6. Hardy,J. (1997) Amyloid, the presenilins and Alzheimer disease. Trends Neurosci., 20, 154-159.
7. Cruts,M., Hendriks,L. and Van Broeckhoven,C. (1996) The presenilin genes: a new gene family involved in Alzheimer disease pathology. Hum. Mol. Genet., 5, 1449-1455.
8. Doan,A., Thinakaran,G., Borchelt,D.R., Slunt,H.H., Ratovitsky,T., Podlisny,M., Selkoe,D.J., Seeger,M., Gandy,S.E., Price,D.L. and Sisodia,S.S. (1996) Protein topology of presenilin 1. Neuron, 17, 1023-1030.
9. Lehman,S., Chiesa,R. and Harris,D.A. (1997) Evidence for a six-transmembrane domain structure of presenilin 1. J. Biol. Chem., 272, 12047-12051.
10. Schellenberg,G.D., Bird,T.D., Wijsman,E.M., Orr,H.T., Anderson,L., Nemens,E., White,J.A., Bonnycastle,L., Weber,J.L., Alonso,M.E., Potter,H., Heston,L.L. and Martin,G.M. (1992) Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science, 258, 668-671.
11. Alzheimer's Disease Collaborative Group: Clark,R.F., Hutton,M., Fuldner,R.A., Froelich,S., Karran,E., Talbot,C., Crook,R., Lendon,C., Prihar,G., He,C., Korenblat,K., Martinez,A., Wragg,M., Busfield,F., Behrens,M.I., Myers,A., Norton,J., Morris,J., Mehta,N., Pearson,C., Lincoln,C., Baker,M., Duff,K., Zehr,C., Perez-Tur,J., Houlden,H., Ruiz,A., Ossa,J., Lopera,F., Arcos,M., Madrigal,L., Collinge,J., Humphreys,C., Ashworth,A., Sarner,S., Fox,N., Harvey,R., Kennedy,A., Roques,P., Cline,R.T., Philips,C.A., Venter,J.C., Forsell,L., Axelman,K., Lilius,L., Johnston,J., Cowburn,R., Viitanen,M., Windblad,B., Kosik,K., Haltia,M., Poyhonen,M., Dickson,D., Mann,D., Neary,D., Snowdon,J., Lantos,P., Lannfelt,L., Rossor,M., Roberts,G.W., Adams,M.D., Hardy,J. and Goate,A. (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.
12. Cruts,M., Backhovens,H., Wang,S.-Y., Van Gassen,G., Theuns,J., De Longhe,C., Wehnert,A., De Voecht,J., De Winter,G., Cras,P., Bruyland,M., Datson,N., Weissenbach,J., den Dunnen,J.T., Martin, J.-J., Hendriks, L. and Van Broeckhoven,C. (1995) Molecular genetic analysis of familial earlyonset Alzheimer's disease linked to chromosome 14q24.3. Hum. Mol. Genet. 4, 2363-2372.
13. Cruts,M. and Van Broeckhoven,C. (1997) Presenilin mutations in Alzheimer's disease. Hum. Mutat., in press.
14. Campion,D., Flaman,J.-M., Brice,A., Hannequin,D., Dubois,B., Martin,C., Moreau,V., Charbonnier,F., Didierjean,O., Tardieu,S., Penet,C., Puel,M., Pasquier,F., Bellis,G., Calenda,A., Heilig,R., Martinez,M., Mallet,J., Bellis,M., Clerget-Darpoux,F., Agid,Y. and Frebourg,T. (1995) Mutations of the Presenilin-1 gene in families with early-onset Alzheimer's disease. Hum. Mol. Genet., 4, 2373-2377.
15. Hutton,M., Busfield,F., Wragg,M., Crook,R., Perez-Tur,J., Clark,R.F., Prihar,G., Talbot,C., Phillips,H., Wright,K., Baker,M., Lendon,C., Duff,K., Martinez,A., Houlden,H., Nichols,A., Karran,E., Roberts,G., Venter,J.C., Adams,M.D., Cline,R.T., Phillips,C.A., Fuldner,R.A., Hardy,J. and Goate,A. (1996) Complete analysis of the presenilin 1 gene in families with early onset Alzheimer's disease. Neuroreport, 7, 801-805.
16. Tanahashi,H., Kawakatsu,S., Kaneko,M., Yamanaka,H., Takahashi,K. and Tabira,T. (1996) Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patient. Neurosci. Lett., 218, 139-141.
17. Sherrington,R., Froelich,S., Sorbi,S., Campion,D., Chi,H., Rogaeva,E.A., Levesque,G., Rogaev,E.I., Lin,C., Liang,Y., Ikeda,M., Mar,L., Brice,A., Agid,Y., Percy,M.E., Clerget-Darpoux,F., Piacentini,S., Marcon,G., Nacmias,B., Amaducci,L., Frebourg,T., Lannfelt,L., Rommens,J.M. and St George-Hyslop,P.H. (1996) Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. Hum. Mol. Genet., 5, 985-988.
18. Hofman,A., Schulte,W., Tanja,T.A., van Duijn,C.M., Haaxma,R., Lameris,A.J., Otten,V.M. and Saan,R.J. (1989) History of dementia and Parkinson's disease in 1st-degree relatives of patients with Alzheimer's disease. Neurology, 39, 1589-1592.
19. van Duijn,C.M., Hendriks,L., Cruts,M., HardyJ,A., Hofman,A. and Van Broeckhoven,C. (1991) Amyloid precursor protein gene mutation in early-onset Alzheimer's disease. Lancet, 337, 978.
20. van Duijn,C.M., Fanrer,L.A., Backhovens,H., Cruts,M., Wehnert,A., Hofman,A. and Van Broeckhoven,C. (1994) A population-based study of familial Alzheimer's disease: linkage to chromosome 14, 19 and 21. Am. J. Hum. Genet., 55, 714-727.
21. Rogaev,E.I., Sherrington,R., Wu,C., Levesque,G., Liang,Y., Rogaeva,E.A., Ikeda,M., Holman,K., Lin,C., Lukiw,W.J., de Jong,P.J., Fraser,P.E., Rommens,J.M. and St George-Hyslop,P.H. (1997) Analysis of the 5′ sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer's disease. Genomics, 40, 415-424.
22. Prihar,G., Fuldner,R.A., Perez-Tur,J., Lincoln,S., Duff,K., Crook,R., Hardy,J., Phillips,C.A., Venter,C., Talbot,C., Clark,R.F., Goate,A., Li,J., Potter,H., Karran,E., Roberts,G.W., Hutton,M. and Adams,M.D. (1996) Structure and alternative splicing of the presenilin-2 gene. Neuroreport, 7, 1680-1684.
23. Cruts,M., Backhovens,H., Wang,S.-Y., Van Gassen,G., Theuns,J., De Jonghe,C., Wehnert,A., De Voecht,J., De Winter,G., Cras,P., Bruyland,M., Datson,N., Weissenbach,J., den Dunnen,J.T., Martin,J.-J., Hendriks,L. and Van Broeckhoven,C. (1995) Molecular genetic analysis of familial earlyonset Alzheimer's disease linked to chromosome 14q24.3.Hum.Mol.Genet., 4, 2363-2372.
24. van Duijn,C.M., Cruts,M., Backhovens,H., Wehnert,A., Theuns,J., Van Gassen,G., Hofman,A. and Van Broeckhoven,C. (1996) A genetic asociation study of presenilin 1 in early-onset Alzheimer's disease. Am. J. Hum. Genet., 59 (suppl.), A192.
25. Wragg,M., Hutton,M., Talbot,C., Busfield,F., Han,S.W., Lendon,C., Clark,R.F., Morris,J.C., Edwards,D., Goate,A., Pfeiffer,E., Crook,R., Prihar,G., Philips,H, Baker,M., Hardy,J., Rossor,M., Houlden,H., Karran,E., Roberts,G. and Craddock,N. (1996) Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Lancet, 347, 509-512.
26. Levy-Lahad,E., Poorkaj,P., Wang,K., Hui Fu,Y., Oshima,J., Mulligan,J. and Schellenberg,G.D. (1996) Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer's disease gene. Genomics, 34, 198-204.
27. Sandbrink,R., Zhang,D., Schaeffer,S., Masters,C.L., Bauer,J., Förstl,H. and Beyreuther,K. (1996) Missense mutations of the S182IPS1 gene in German early-onset Alzheimer's disease patients. Annls Neurol., 40, 265-266.
28. Hayashi,K. and Yandell,D.W. (1993) How sensitive is PCR-SSCP? Hum. Mutat., 2, 338-346.
29. Van Broeckhoven,C. (1995) Presenilins and Alzheimer disease. Nature Genet., 11, 230-232.
30. Corder,E.H., Saunders,A.M., Strittmatter,W.J., Schmechel,D.E., Gaskell,P.C., Small,G.W., Roses,A.D., Haines,J.L. and Pericak-Vance,M.A. (1993) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science, 261, 921-923.
31. Van Broeckhoven,C., Backhovens,H., Cruts,M., Martin,J., Crook,R., Houlden,H. and Hardy,J. (1994) APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease. Neurosci. Lett., 169, 179-180.
32. Levitan,D. and Greenwald,I. (1995) Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature, 377, 351-354.
33. van Duijn,C.M., de Knijff,P., Cruts,M., Wehnert,A., Havekes,L.M., Hofman,A and Van Broeckhoven,C. (1994) Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease. Nature Genet., 7, 74-78.
34. McKhann,G., Drachman,D., Folstein,M., Katzman,R., Price,D. and Stadlan,E.M. (1984) Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's disease. Neurology, 34, 939-944.
35. Wenhan,P.R., Price,W.H. and Blundell,G. (1991) Apolipoprotein E genotyping by one-stage PCR. Lancet, 337, 1158-1159.