Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus
1995; American Association for the Advancement of Science; Volume: 269; Issue: 5226 Linguagem: Inglês
10.1126/science.7638622
ISSN1095-9203
AutoresEphrat Levy‐Lahad, Wilma Wasco, Parvoneh Poorkaj, Donna Romano, Junko Oshima, Warren H. Pettingell, Chang-En Yu, P. D. Jondro, Stephen D. Schmidt, Kai Wang, Annette C. Crowley, Ying‐Hui Fu, Suzanne Y. Guénette, David J. Galas, Ellen Nemens, Ellen M. Wijsman, Thomas D. Bird, Gerard D. Schellenberg, Rudolph E. Tanzi,
Tópico(s)Bioinformatics and Genomic Networks
ResumoA 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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