Cited by 2,577Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchNeuroinflammation and Neurodegeneration Mechanisms

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Candidate gene for the chromosome 1 familial Alzheimer’s disease locus

Levy-Lahad, Ephrat, Wasco, Wilma, Poorkaj, Parvoneh, Romano, Donna M., Oshima, Junko, Pettingell, Warren H., Yu, Chang-en, Jondro, Paul D., Schmidt, Stephen D., Wang, Kai, Crowley, Annette C., Fu, Ying-Hui, Guenette, Suzanne Y., Galas, David, Nemens, Ellen, Wijsman, Ellen M., Bird, Thomas D., Schellenberg, Gerard D., Tanzi, Rudolph E.·1995·Science

DOI 10.1126/science.7638622

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Abstract

A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified (STM2). The predicted amino acid sequence for STM2 is homologous to that of the recently cloned chromosome 14 AD gene (S182). A point mutation in STM2, resulting in the substitution of an isoleucine for an asparagine (N141l), was identified in affected people from Volga German AD kindreds. This N141l mutation occurs at an amino acid residue that is conserved in human S182 and in the mouse S182 homolog. The presence of missense mutations in AD subjects in two highly similar genes strongly supports the hypothesis that mutations in both are pathogenic.

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Authors: 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., Crowley, A. C., Fu, Y.-H., Guenette, S. Y., Galas, D., Nemens, E., Wijsman, E. M., Bird, T. D., Schellenberg, G. D., & Tanzi, R. E.
Affiliations: Geriatric Research Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108, USA.
Massachusetts General Hospital (US)
United States Department of Veterans Affairs (US)
Darwin Molecular, Bothell, WA 98021, USA.
Genetics and Aging Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA.
University of Washington (US)
ORCID: Oshima, Junko
Yu, Chang-en
Fu, Ying-Hui
Galas, David
Wijsman, Ellen M.
Bird, Thomas D.
Schellenberg, Gerard D.
Tanzi, Rudolph E.
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 1995-08-18
Volume: 269
Issue: 5226
Pages: 973-977
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.7638622
OpenAlex: W2083633251
Cited by: 2,577
References: 25
Citations by year: 2026: 17 · 2025: 46 · 2024: 66 · 2023: 47 · 2022: 43 · 2021: 65 · 2020: 84 · 2019: 72 · 2018: 65 · 2017: 77 · 2016: 90 · 2015: 63 · 2014: 78 · 2013: 82 · 2012: 83
FWCI: 99.06
Type: journal article
Language: en
Open access: closed
Locations: Science (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (5r01ag011899-03)
National Institute on Aging (AG0513C, R01AG011762, R01 AG 11762, R01-AG11899)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
Keywords: familial Alzheimer's disease, candidate genes, missense mutations, gene homology, pathogenic variants
MeSH terms: Adult, Aged, Alzheimer Disease, Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 1, Cloning, Molecular, Female, Germany, Humans, Lod Score, Male, Membrane Proteins, Middle Aged, Molecular Sequence Data, Mutation, Pedigree, Gene Expression, Point Mutation, DNA, Complementary, Presenilin-2

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Candidate gene for the chromosome 1 familial Alzheimer’s disease locus

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