Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease
Corresponding Author
Shinji Sato
Human Genome Center, The Institute of Medical Science, The University of Tokyo, 4-6-1, Shirokane-dai, Minato-ku, Tokyo 108, Japan
Human Genome Center, The Institute of Medical Science, The University of Tokyo, 4-6-1, Shirokanedai, Minato-ku, Tokyo 108, Japan. Fax: 81-3-5449-5445Search for more papers by this authorKouzin Kamino
Department of Geriatric Medicine, Osaka University Medical School, 2-2, Yamadaoka, Suita, Osaka 565, Japan
Search for more papers by this authorTetsuro Miki
Department of Geriatric Medicine, Osaka University Medical School, 2-2, Yamadaoka, Suita, Osaka 565, Japan
Search for more papers by this authorAkira Doi
Kawamura Clinic, Ishii-cho, Myozai-gun, Tokushima 779-32, Japan
Search for more papers by this authorKunio Ii
First Department of Pathology, Tokushima University Medical School, 3-8-15, Kuramoto-cho, Tokushima 770, Japan
Search for more papers by this authorPeter H. St George-Hyslop
Center for Research into Neurodegenerative Diseases, Departments of Medicine (Neurology) and Medical Biophysics, University of Toronto, Toronto, Division
Search for more papers by this authorToshio Ogihara
Department of Geriatric Medicine, Osaka University Medical School, 2-2, Yamadaoka, Suita, Osaka 565, Japan
Search for more papers by this authorYoshiyuki Sakaki
Human Genome Center, The Institute of Medical Science, The University of Tokyo, 4-6-1, Shirokane-dai, Minato-ku, Tokyo 108, Japan
Search for more papers by this authorCorresponding Author
Shinji Sato
Human Genome Center, The Institute of Medical Science, The University of Tokyo, 4-6-1, Shirokane-dai, Minato-ku, Tokyo 108, Japan
Human Genome Center, The Institute of Medical Science, The University of Tokyo, 4-6-1, Shirokanedai, Minato-ku, Tokyo 108, Japan. Fax: 81-3-5449-5445Search for more papers by this authorKouzin Kamino
Department of Geriatric Medicine, Osaka University Medical School, 2-2, Yamadaoka, Suita, Osaka 565, Japan
Search for more papers by this authorTetsuro Miki
Department of Geriatric Medicine, Osaka University Medical School, 2-2, Yamadaoka, Suita, Osaka 565, Japan
Search for more papers by this authorAkira Doi
Kawamura Clinic, Ishii-cho, Myozai-gun, Tokushima 779-32, Japan
Search for more papers by this authorKunio Ii
First Department of Pathology, Tokushima University Medical School, 3-8-15, Kuramoto-cho, Tokushima 770, Japan
Search for more papers by this authorPeter H. St George-Hyslop
Center for Research into Neurodegenerative Diseases, Departments of Medicine (Neurology) and Medical Biophysics, University of Toronto, Toronto, Division
Search for more papers by this authorToshio Ogihara
Department of Geriatric Medicine, Osaka University Medical School, 2-2, Yamadaoka, Suita, Osaka 565, Japan
Search for more papers by this authorYoshiyuki Sakaki
Human Genome Center, The Institute of Medical Science, The University of Tokyo, 4-6-1, Shirokane-dai, Minato-ku, Tokyo 108, Japan
Search for more papers by this author
References
- 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.
- Boteva K, Vitek M, Mitsuda H, de Silva H, Xu P-T, Small G, Gilbert JR (1996) Mutation analysis of presenilin 1 gene in Alzheimer's disease. Lancet 347: 130–131.
- Campion D, Flaman J, Brice A, Hannequin D, Dubois B, Martin C, Moreau V, Charbonnier F, Didierjean O, Tardieu S, Penet C, Puel M, Pasquier F, Le Doze F, Bellis G, Calenda A, Heilig R, Martinez M, Mallet J, Bellis M, Clerget-Darpoux F, Agid Y, Frebourg T (1995) Mutations of the presenilin 1 gene in families with early-onset Alzheimer's disease. Hum Mol Genet 4: 2373–2377.
- Cruts M, Backhovens H, Wang S, Van Gassen G, Theuns J, De Jonghe C, Wehnert A, De Voecht J, De Winter G, Cras P, Bruyland M, Datson N, Weissenbach J, Dunnen JT, Martin J, Hendriks L, Van Broeckhoven C (1995) Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. Hum Mol Genet 4: 2363–2371.
- Doi A, Fujimoto K, Yoshida M, Tsuji K, Yamato A, Ii K, Hizawa K (1984) Alzheimer's disease in identical twin brothers-investigations of their family history and of clinical development of the disease. Psychiatr Neurol Jpn 86: 417–447.
- Hattori M, Shibata A, Yoshioka K, Sakaki Y (1993) Orphan peak analysis: a novel method for detection of point mutations using an automated fluorescence DNA sequencer. Genomics 15: 415–417.
- Kamino K, Nagano K, Katsuya T, Nishiwaki Y, Takeda M, Tanabe H, Nishimura T, Ii K, Fujimoto K, Tsujimura R, Nonomura Y, Yoneda H, Sakai T, Nakajima T, Imagawa M, Martin GM, Bird TD, Schellenberg GS, Miki T, Ogihara T (1995) Linkage and haplotype analysis of familial early-onset Alzheimer disease in Japanese population. Jpn J Hum Genet 20: 229–241.
- Kamino K, Sato S, Sakaki Y, Yoshiiwa A, Nishiwaki Y, Takeda M, Tanabe T, Nishimura T, Ii K, St George-Hyslop PH, Miki T, Ogihara T (1996) Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families. Neurosci Lett 208: 195–198.
- Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu C-E, Jondro PD, Schmidt SD, Wang K, Crowley AC, Fu Y-H, Guenette SY, Galas D, Nemens E, Wijsman EM, Bird TD, Schellenberg GD, Tanzi RE (1995) Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269: 973–977.
- Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, Mar L, Sorbi S, Nacmias B, Piacentini S, Amaducci L, Chumakov I, Cohen D, Lannfelt L, Fraser PE, Rommens JM, St George-Hyslop PH (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.
- Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin J-F, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HAR, Haines JL, Pericak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375: 754–760.
- Sorbi S, Nacmias B, Forleo P, Piacentini S, Sherrington R, Rogaev E, St George-Hyslop PH, Amaducci L (1995) Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease. Lancet 346: 439–440.
- Tanahashi H, Mitsunaga Y, Takahashi K, Tasaki H, Watanabe S, Tabira T (1995) Missense mutation of S182 gene in Japanese familial Alzheimer's disease. Lancet 346: 440.
- Van Broeckhoven C (1995) Presenilins and Alzheimer disease. Nature Genet 11: 230–232.
- Wasco W, Pettingell WP, Jondro PD, Schmidt SD, Gurubhagabatula S, Rodes L, Diblasi T, Romano DM, Guenette SY, Kovacs DM, Growdon JH, Tanzi RE (1995) Familial Alzheimer's chromosome 14 mutations. Nature Med 1: 848.