A polymorphic microsatellite repeat within the ECE-1c promoter is involved in transcriptional start site determination, human evolution, and Alzheimer's disease.
作者： Y. Li , K. Seidel , P. Marschall , M. Klein , A. Hope
DOI: 10.1523/JNEUROSCI.2636-12.2012
关键词:
摘要: Genetic factors strongly contribute to the pathogenesis of sporadic Alzheimer9s disease (AD). Nevertheless, genome-wide association studies only yielded single nucleotide polymorphism loci moderate importance. In contrast, microsatellite repeats are functionally less characterized structures within our genomes. Previous work has shown that endothelin-converting enzyme-1 (ECE-1) is able reduce amyloid β content. Here we demonstrate a CpG-CA repeat human ECE-1c promoter highly polymorphic, harbors transcriptional start sites, recruit transcription poly(ADP-ribose) polymerase-1 and splicing factor proline glutamine-rich, functional regarding haplotype-specific activity. Furthermore, genotyping 403 AD patients 444 controls for length indicated shifted allelic frequency distributions. Sequencing 245 haplotype clones demonstrated overall composition distinct. Finally, show chimpanzee [CpG] m –[CA] n genetically Our data indicate short genomic structure constitutes novel core element, coincides with evolution, contributes AD.
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