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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
1993-12-20
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0028-3878
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pubmed:author |
pubmed-author:AlexandrovaNN,
pubmed-author:AmaducciLL,
pubmed-author:BergaminiLL,
pubmed-author:BruniA CAC,
pubmed-author:CrapperDD,
pubmed-author:DuaraRR,
pubmed-author:FoncinJ FJF,
pubmed-author:FrommeltPP,
pubmed-author:GusellaJ FJF,
pubmed-author:HainesJ LJL,
pubmed-author:LiangYY,
pubmed-author:LopezRR,
pubmed-author:LukiwW JWJ,
pubmed-author:MacLachlanDD,
pubmed-author:MacciardiFF,
pubmed-author:MontesiMM,
pubmed-author:MortillaMM,
pubmed-author:PinessiLL,
pubmed-author:PolinskyR JRJ,
pubmed-author:PolletBB,
pubmed-author:RaineroII,
pubmed-author:RogaevE IEI,
pubmed-author:RogaevaE AEA,
pubmed-author:SorbiSS,
pubmed-author:St George-HyslopP HPH,
pubmed-author:TanziRR,
pubmed-author:TsudaTT,
pubmed-author:VaulaGG
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pubmed:issnType |
Print
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pubmed:volume |
43
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
2275-9
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pubmed:dateRevised |
2011-5-17
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pubmed:meshHeading |
pubmed-meshheading:8232942-Adult,
pubmed-meshheading:8232942-Alzheimer Disease,
pubmed-meshheading:8232942-Amyloid beta-Protein Precursor,
pubmed-meshheading:8232942-Chromosomes, Human, Pair 14,
pubmed-meshheading:8232942-Genes, fos,
pubmed-meshheading:8232942-Genetic Linkage,
pubmed-meshheading:8232942-Humans,
pubmed-meshheading:8232942-Middle Aged,
pubmed-meshheading:8232942-Pedigree,
pubmed-meshheading:8232942-Polymorphism, Genetic,
pubmed-meshheading:8232942-Promoter Regions, Genetic,
pubmed-meshheading:8232942-Restriction Mapping
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pubmed:year |
1993
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pubmed:articleTitle |
Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease.
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pubmed:affiliation |
Division of Neurology, University of Toronto, Ontario, Canada.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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