Functional characterization of amyloid β precursor protein regulatory elements: Rationale for the identification of genetic polymorphism

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Abstract

Alzheimer's disease (AD) is characterized by the formation of senile plaques of the amyloid peptide (Aβ) derived from a large Aβ precursor protein (APP). Autosomally inherited or "familial" AD has only been previously demonstrated in connection with coding sequence missense mutations. Abnormal regulation of APP gene expression has been demonstrated to play a role in AD. Genome screen and linkage analysis suggest that the APP locus may predispose to AD. The aim is to characterize genetic variability in the APP gene within its upstream regulatory region and to determine whether that variability is associated with AD and affects the expression of APP. This article describes the rationale and strategy for identifying genetic polymorphisms in the APP regulatory region, including its promoter, to associate any variability with the disease.

Original languageEnglish
Pages (from-to)282-288
Number of pages7
JournalAnnals of the New York Academy of Sciences
Volume1030
DOIs
StatePublished - 2004

Fingerprint

Protein Precursors
Amyloid beta-Protein Precursor
Genetic Polymorphisms
Polymorphism
Alzheimer Disease
Nucleic Acid Regulatory Sequences
Amyloid Plaques
Missense Mutation
Amyloid
Gene expression
Protein
Precursor
Genes
Alzheimer's Disease
Genome
Gene Expression
Proteins

Keywords

  • β-protein
  • Aging
  • Amyloid
  • Brain
  • Dementia
  • Gene regulation
  • Polymorphism
  • Promoter
  • SNP
  • Transcription

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

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abstract = "Alzheimer's disease (AD) is characterized by the formation of senile plaques of the amyloid peptide (Aβ) derived from a large Aβ precursor protein (APP). Autosomally inherited or {"}familial{"} AD has only been previously demonstrated in connection with coding sequence missense mutations. Abnormal regulation of APP gene expression has been demonstrated to play a role in AD. Genome screen and linkage analysis suggest that the APP locus may predispose to AD. The aim is to characterize genetic variability in the APP gene within its upstream regulatory region and to determine whether that variability is associated with AD and affects the expression of APP. This article describes the rationale and strategy for identifying genetic polymorphisms in the APP regulatory region, including its promoter, to associate any variability with the disease.",
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AB - Alzheimer's disease (AD) is characterized by the formation of senile plaques of the amyloid peptide (Aβ) derived from a large Aβ precursor protein (APP). Autosomally inherited or "familial" AD has only been previously demonstrated in connection with coding sequence missense mutations. Abnormal regulation of APP gene expression has been demonstrated to play a role in AD. Genome screen and linkage analysis suggest that the APP locus may predispose to AD. The aim is to characterize genetic variability in the APP gene within its upstream regulatory region and to determine whether that variability is associated with AD and affects the expression of APP. This article describes the rationale and strategy for identifying genetic polymorphisms in the APP regulatory region, including its promoter, to associate any variability with the disease.

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