Summary
Novelty: A transgenic animal which harbours a mutant DNA sequence encoding amyloid precursor protein (APP), with a mutant amino acid residue at the position encoded by codon 717, or the copy of a human DNA sequence encoding mutant APP is claimed. A method for detecting an APP allele which cosegregates with a genetic predisposition to Alzheimer's disease, especially familial or early onset Alzheimer's, is also claimed.
Biology: Full recombinant details for the cloning of the relevant mutant DNA in E. coli, Bacillus, Pseudomonas etc. are given. Sequencing details, obtained by PCR, are also provided. The production of transgenic mice with a mutant APP allele is described, and the use of such animals for testing therapeutic agents is discussed. However, no biological data are provided.
Chemistry: Thirty-nine sequences are provided, six for DNA encoding variants of APP and thirty-three proteins. A core sequence claimed is Ile-Ala-Thr-Val-Ile-X-Ile-Thr-Leu, where X is any of the twenty conventional amino acids, bar valine.