Nature genetics. 1995-10-01; 11.2: 219-22.

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

Clark RF, Hutton M, Fuldner RA, Froelich S, Karran E, Talbot C, Crook R, Lendon C, Prihar G, He C, Korenblat K, Martinez A, Wragg M, Busfield F, Behrens MI, Myers A, Norton J, Morris J, Mehta N, Pearson C, Lincoln S, Baker M, Duff K, Zehr C, Perez-Tur J, Houlden H, Ruiz A, Ossa J, Lopera F, Arcos M, Madrigal L, Collinge J, Humphreys C, Ashworth A, Sarner S, Fox N, Harvey R, Kennedy A, Roques P, Cline RT, Phillips CA, Venter JC, Forsell L, Axelman K, Lilius L, Johnston J, Cowburn R, Vitanen M, Winblad B, Kosik K, Haltia M, Poyhonen M, Dickson D, Mann D, Neary D, Snowden J, Lantos P, Lannfelt L, Rossor M, Roberts GW, Adams MD, Hardy J, Goate A

PMID: 7550356


Genetic linkage studies place a gene causing early onset familial Alzheimer's disease (FAD) on chromosome 14q24.3 (refs 1-4). Five mutations within the S182 (Presenilin 1: PS-1) gene, which maps to this region, have recently been reported in several early onset FAD kindreds. We have localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM2 (Presenilin 2: PS-2) gene.