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Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus
Ephrat Levy-Lahad, Wilma Wasco, Parvoneh Poorkaj, Donna M. Romano, Junko Oshima, Warren H. Pettingell, Chang-en Yu, Paul D. Jondro, Stephen D. Schmidt, Kai Wang, Annette C. Crowley, Ying-Hui Fu, Suzanne Y. Guenette, David Galas, Ellen Nemens, Ellen M. Wijsman, Thomas D. Bird, Gerard D. Schellenberg and Rudolph E. Tanzi
New Series, Vol. 269, No. 5226 (Aug. 18, 1995), pp. 973-977
Published by: American Association for the Advancement of Science
Stable URL: http://www.jstor.org/stable/2887712
Page Count: 5
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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.
Science © 1995 American Association for the Advancement of Science