Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus

American Association for the Advancement of Science (AAAS) - Tập 269 Số 5226 - Trang 973-977 - 1995
Ephrat Levy‐Lahad1, Wilma Wasco2, Parvoneh Poorkaj1, Donna Romano2, Junko Oshima1, Warren H. Pettingell2, Chang Yu1, P.D. Jondro2, Ingo Schmitz2, Kai Wang3, Annette C. Crowley2, Ying‐Hui Fu3, Suzanne Y. Guénette2, David J. Galas3, Ellen Nemens1, Ellen M. Wijsman4, Jason D. Warren5, Gerard D. Schellenberg1, Rudolph E. Tanzi2
1Geriatric Research Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108, USA.
2Genetics and Aging Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA.
3Darwin Molecular, Bothell, WA 98021, USA.
4Division of Medical Genetics, Department of Medicine and Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.
5Division of Neurology, Veterans Affairs Medical Center, Seattle, WA 98108, USA.

Tóm tắt

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 (N141I), was identified in affected people from Volga German AD kindreds. This N141I 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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American Association for the Advancement of Science (AAAS)

Tập 269 Số 5226

973-977

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