Article
A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease.
Nature neuroscience - 1 Jun 2015
Bečanović Kristina, Nørremølle Anne, Neal Scott J, Kay Chris, Collins Jennifer A, Arenillas David, Lilja Tobias, Gaudenzi Giulia, Manoharan Shiana, Doty Crystal N, Beck Jessalyn, Lahiri Nayana, Portales-Casamar Elodie, Warby Simon C, Connolly Colúm, De Souza Rebecca A G, Tabrizi Sarah J, Hermanson Ola, Langbehn Douglas R, Hayden Michael R, Wasserman Wyeth W, Leavitt Blair R
Abstract excerpt
Cis-regulatory variants that alter gene expression can modify disease expressivity, but none have previously been identified in Huntington disease (HD). Here we provide in vivo evidence in HD patients that cis-regulatory variants in the HTT promoter are bidirectional modifiers of HD age of onset. HTT promoter analysis identified a NF-κB binding site that regulates HTT promoter transcriptional activity. A...
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