Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus
- 18 August 1995
- journal article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 269 (5226) , 973-977
- https://doi.org/10.1126/science.7638622
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.Keywords
This publication has 19 references indexed in Scilit:
- Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's diseaseNature, 1995
- Gene Dose of Apolipoprotein E Type 4 Allele and the Risk of Alzheimer's Disease in Late Onset FamiliesScience, 1993
- Transient Forebrain Ischemia Induces Increased Expression and Specific Localization of Cathepsins E and D in Rat Hippocampus and NeostriatumExperimental Neurology, 1993
- A locus for familial early–onset Alzhelmer's disease on the long arm of chromosome 14, proximal to the α1–antichymotrypsin geneNature Genetics, 1992
- Genetic Linkage Evidence for a Familial Alzheimer's Disease Locus on Chromosome 14Science, 1992
- A mutation in the Amyloid Precursor Protein Associated with Hereditary Alzheimer's DiseaseScience, 1991
- Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein geneNature, 1991
- Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's diseaseNature, 1991
- Absence of Linkage of Chromosome 21q21 Markers to Familial Alzheimer's DiseaseScience, 1988
- Familial alzheimer's disease in american descendants of the volga germans: Probable genetic founder effectAnnals of Neurology, 1988