| First Author | Sherrington R | Year | 1995 |
| Journal | Nature | Volume | 375 |
| Issue | 6534 | Pages | 754-60 |
| PubMed ID | 7596406 | Mgi Jnum | J:37100 |
| Mgi Id | MGI:84502 | Doi | 10.1038/375754a0 |
| Citation | Sherrington R, et al. (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease [see comments]. Nature 375(6534):754-60 |
| abstractText | Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of Alzheimer's disease to chromosome 14q24.3. We have defined a minimal cosegregating region containing the AD3 gene, and isolated at least 19 different transcripts encoded within this region. One of these transcripts (S182) corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein. Five different missense mutations have been found that cosegregate with early-onset familial Alzheimer's disease. Because these changes occurred in conserved domains of this gene, and are not present in normal controls, they are likely to be causative of AD3. |
