Abstract
The c-FOS gene product, a putative transacting transcriptional regulator of the amyloid precursor protein (APP) gene, is a candidate locus for the familial Alzheimer's disease (FAD) mutation on chromosome 14 (FAD14). In light of this functional relationship, we investigated the nucleotide sequence and segregation of c-FOS and the nucleotide sequence of the 5′ APP promoter. Single-stranded conformational polymorphisms (SSCPs) in the c-FOS gene revealed that c-FOS closely cosegregates with the FAD14 gene but does not show allelic association with FAD. A conservative third-position T→C mutation was demonstrated in exon 2 (codon 84) of c-FOS, and a C→G substitution was detected at -209 bp in the 5′ promoter of APP. Neither were unique to FAD and are unlikely to be pathogenic or secondary modifiers of the FAD phenotype. We conclude that the c-FOS open reading frame is probably not the site of the FAD14 locus, but we cannot exclude the existence of modifier loci on chromosome 21.
Original language | English (US) |
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Pages (from-to) | 2275-2279 |
Number of pages | 5 |
Journal | Neurology |
Volume | 43 |
Issue number | 11 |
DOIs | |
State | Published - Nov 1993 |
Externally published | Yes |
ASJC Scopus subject areas
- Clinical Neurology