A mutation in Alzheimerʼs disease destroying a splice acceptor site in the presenilin-1 gene

Abstract

A series of mutations has been reported in the presenilin-1 (PS-1) gene which cause early onset Alzheimer's disease (AD). The mutations reported to date have encoded missense mutations which alter residues conserved between PS-1 and the presenilin-2 (PS-2) gene. We have recently determined the intron/exon structure of the PS-1 gene and this information has been used to identify a mutation in the splice acceptor site for exon 9 in a family with early onset AD. Amplification of cDNA from lymphoblasts of affected individuals revealed that the effect of the mutation was to cause splicing out of exon 9, however it does not change the open reading frame of the mRNA. The importance of this observation is discussed.

Keywords

ExonMissense mutationGeneticsRNA splicingSplice site mutationPresenilinBiologyMutationIntronspliceGeneMolecular biologyAlzheimer's diseaseAlternative splicingDiseaseMedicineRNAInternal medicine

Affiliated Institutions

University of South Florida US

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Publication Info

Year: 1995
Type: article
Volume: 7
Issue: 1
Pages: 297-301
Citations: 256
Access: Closed

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APA Style

                            
                                
                                    Jordi Pérez‐Tur, 
                                
                                    Susanne Froelich, 
                                
                                    Guy Prihar
                                
                                et al.
                            
                            (1995). 
                            A mutation in Alzheimerʼs disease destroying a splice acceptor site in the presenilin-1 gene. 
                            Neuroreport
                            , 7
                            (1)
                            , 297-301.
                            https://doi.org/10.1097/00001756-199512000-00071
                        

Identifiers

DOI: 10.1097/00001756-199512000-00071