Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus
Ephrat Levy‐Lahad(Geriatric Research Education and Clinical Center), Wilma Wasco(Massachusetts General Hospital), Parvoneh Poorkaj(Geriatric Research Education and Clinical Center), Donna Romano(Massachusetts General Hospital), Junko Oshima(Geriatric Research Education and Clinical Center), Warren H. Pettingell(Massachusetts General Hospital), Chang-En Yu(Geriatric Research Education and Clinical Center), P. D. Jondro(Massachusetts General Hospital), Stephen D. Schmidt(Massachusetts General Hospital), Kai Wang(University of Washington Bothell), Annette C. Crowley(Massachusetts General Hospital), Ying‐Hui Fu(University of Washington Bothell), Suzanne Y. Guénette(Massachusetts General Hospital), David J. Galas(University of Washington Bothell), Ellen Nemens(Geriatric Research Education and Clinical Center), Ellen M. Wijsman(University of Washington), Thomas D. Bird(Veterans Health Administration), Gerard D. Schellenberg(Geriatric Research Education and Clinical Center), Rudolph E. Tanzi(Massachusetts General Hospital)
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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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