A polymorphic microsatellite repeat within the ECE-1c promoter is involved in transcriptional start site determination, human evolution, and Alzheimer's disease.

doi:10.1523/JNEUROSCI.2636-12.2012

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Article

A polymorphic microsatellite repeat within the ECE-1c promoter is involved in transcriptional start site determination, human evolution, and Alzheimer's disease.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 21 Nov 2012

Li Yaosi, Seidel Kerstin, Marschall Peter, Klein Michael, Hope Antonia, Schacherl Jens, Schmitz Jennifer, Menk Mario, Schefe Jan H, Reinemund Jana, Hugel Rebecca, Walden Peter, Schlosser Andreas, Volkmer Rudolf, Schimkus Julia, Kölsch Heike, Maier Wolfgang, Kornhuber Johannes, Frölich Lutz, Klare Sabrina, Kirsch Sebastian, Schmerbach Kristin, Scheele Sylvia, Grittner Ulrike, Zollmann Frank, Goldin-Lang Petra, Peters Oliver, Kintscher Ulrich, Unger Thomas, Funke-Kaiser Heiko

Abstract excerpt

Genetic factors strongly contribute to the pathogenesis of sporadic Alzheimer's disease (AD). Nevertheless, genome-wide association studies only yielded single nucleotide polymorphism loci of 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 to reduce amyloid β...

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PMID: 23175834
DOI: 10.1523/JNEUROSCI.2636-12.2012
PMCID: PMC6621774

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