Nucleic acids encoding presenilin II

Details Nucleic acids encoding presenilin II Nucleic acids encoding presenilin II

1997-11-10

1998-11-24

Carlson, Karen Cochrane

Chemistry: molecular biology and microbiology

Micro-organism, tissue cell culture or enzyme using process...

Recombinant dna technique included in method of making a...

4353201, 4352523, 435325, 536 231, 536 243, 530350, C12P 2106, C07H 1700, C07K 1400

Patent

active

058405402

ABSTRACT:
The present invention describes the identification, isolation and cloning of two human presenilin genes, PS-1 and PS-2, mutations in which lead to Familial Alzheimer's Disease. Also identified are presenilin homologue genes in mice, C. elegans and D. melanogaster. Transcripts and products of these genes are useful in detecting and diagnosing Alzheimer's disease, developing therapeutics for treatment of Alzheimer's disease, as well as the isolation and manufacture of the protein and the constructions of transgenic animals expressing the mutant genes.

REFERENCES:
patent: 5262332 (1993-11-01), Selkoe
patent: 5297562 (1994-03-01), Potter
patent: 5449604 (1995-09-01), Schellenberg et al.
patent: 5668006 (1997-09-01), Hadcock et al.
Johansson et al., J. Biol. Chem., 270(35):20615-20620 (1995).
Pawlak et al., EMBL Sequence Data Library, Dec. 20, 1994, Accession No. T18858.
Auffray et al., EMBL Sequence Data Library, Feb. 17, 1995, Accession No. F08730.
Zahraoui et al., EMBL Sequence Data Library, Jul. 22, 1994, Accession No. X56740.
Drivas et al., EMBL Sequence Data Library, Feb. 19, 1991, Accession No. X53143.
Chambon et al., EMBL Sequence Data Library, Feb. 7, 1992, Accession No. M84820.
Fleischhauer et al., EMBL Sequence Data Library, Mar. 31, 1992, Accession No. X63522.
Yu et al., EMBL Sequence Data Library, Dec. 10, 1991, Accession No. M81766.
Sevigny et al., EMBL Sequence Data Library, Jan. 7, 1995, Accession No. U17104.
Walkley et al., EMBL Sequence Data Library, Jan. 1, 1994, Accession No. X74801.
Hillier et al., EMBL Sequence Data Library, Apr., 22, 1995, Accession No. R12984.
Fujiwara et al., EMBL Sequence Data Library, Aug. 25, 1995, Accession No. D55326.
Hillier et al., EMBL Sequence Data Library, Mar. 6, 1995, Accession No. T64843.
Barinaga, "New Alzheimer's Gene Found," Science, 268:1845-1846 (1995).
Barinaga, "Missing Alzheimer's Gene Found," Science, 269:81-92(1995).
Campion et al., "Mutations of the presenilin I gene in families with early-onset Alzheimer's disease," Human Molecular Genetics, 4(12):2373-2377 (1995).
Chartier-Harlin et al., "Early onset Alzheimer's disease caused by mutations at codon 717 of the .beta.-amyloid precursor protein gene," Nature, 353:844-846 (1991).
Cruts et al., "Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3," Human Molecular Genetics, 4(12):2363-2371 (1995).
Foncin et al., "Alzheimer's Presenile dementia transmitted in an extended kindred," Rev. Neurol. (Paris), 141;194-202 (1985).
Goate et al., "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease," Nature, 349:704-706 (1991).
Goudsmit et al., "Familial Alzheimer's Disease in two kindreds of the same geographic and ethnic origin: a clinical and genetic study," J. Neurol. Sci., 49:79-89 (1981).
Gyapay et al., "The 1993-94 Genethon human genetic linkage map," Nature Genetics, 7:246-311 (1994).
Karlinsky et al., "Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the .beta.-amyloid precursor protein (APP) gene," Neurology, 42:1445-1453 (1992).
Katzman, "Alzheimer's Disease," N. Eng.J.Med., 314:964-973 (1986).
Levy-Lahad et al., "A Familiar Alzheimer's Disease Locus on Chromosone I," Science, 269:970-973 (1995).
Levy-Lahad et al., "Candidate Gene for the Chromosome I Familial Alzheimer's Disease Locus," Science, 269:973-977 (1995).
Mullan et al., "A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of .beta.-amyloid," Nature Genetics, 1:345-347 (1992).
Mullan et al., "A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the .alpha.1-antichymotrypsin gene," Nature Genetics, 2:340-342 (1992).
Murrell et al., "A mutation in the amyloid precursor protein associated with hereditary Alzheimer's Disease," Science, 254:97-99 (1991).
Nee et al., "A family with histologically confirmed Alzheimer's Disease," Arch. Neurol., 40:203-208 (1983).
Pericak-Vance et al., "Genetic linkage studies in Alzheimer's Disease families," Exp. Neurol, 102:271-279 (1988).
Rogaev et al., "Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease," Neurology, 43:2275-2279 (1993).
Rogeav et al., "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 (1995).
Rommens et al., "A transcription map of the region containing the Huntington disease gene," Hum. Molec. Genet., 2:901-907 (1993).
Sherrington et al., "Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease," Nature, 375:754-760 (1995).
St. George-Hyslop et al., "Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder," Nature, 347:194-197 (1990).
St. George-Hyslop et al., "Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14," Nature Genetics, 2:330-334 (1992).
St. George-Hyslop et al., "Alzheimer's Disease and Possible Gene Interaction," Science, 265:537 (1994).
Saunders et al., "Association of apolipoprotein E allele e4 with the late-onset familial and sporadic Alzheimer's disease," Neurology, 43:1467-1472 (1993).
Schellenberg et al., "Genetic Linkage Evidence for a Familial Alzheimer's Disease Locus on Chromosome 14," Science, 258:668-670 (1992).
Schellenberg et al., "Chromosome 14 and Late-Onset Familial Alzheimer Disease (FAD)," Am. J. Hum. Genet., 53:619-628 (1993).
Strittmatter et al., "Apolipoprotein E: high avidity binding to .beta.-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer's disease," Proc. Nat'l. Acad. Sci. USA, 90:1977-1981 (1993).
Van Broeckhoven et al., "Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3," Nature Genetics, 2:335-339 (1992).
Van Broeckhoven, "Presenilins and Alzheimer disease," Nature Genetics, 11:230-232 (1995).
Wong et al., "Mutation of the gene for the human lysosomal scrine protease Cathepsin G is not the cause of aberrannt APP processing in familial Alzheimer disease," Neurosci. Lett, 152:96-98 (1993).
L'Hernault et al., "Mutation of a Putative Sperm Membrane Protein in Caenorhabditis elegans Prevents Sperm Differentiation but Not Its Associated Meiotic Divisions," J. Cell Biol., 119(1):55-68 (1992).
Li et al., "Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3," Proc. Natl. Acad. Sci. USA, 92:12180-4 (1995).
Yamada et al., "Complementary DNA for the mouse homolog of the human amyloid beta protein precursor," Biochem. Biophys. Res. Comm. 149(2):665-71 (1987).

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