Article
CD33: increased inclusion of exon 2 implicates the Ig V-set domain in Alzheimer's disease susceptibility.
Human molecular genetics - 15 May 2014
Raj Towfique, Ryan Katie J, Replogle Joseph M, Chibnik Lori B, Rosenkrantz Laura, Tang Anna, Rothamel Katie, Stranger Barbara E, Bennett David A, Evans Denis A, De Jager Philip L, Bradshaw Elizabeth M
Abstract excerpt
We previously demonstrated that the Alzheimer's disease (AD) associated risk allele, rs3865444(C), results in a higher surface density of CD33 on monocytes. Here, we find alternative splicing of exon 2 to be the primary mechanism of the genetically driven differential expression of CD33 protein. We report that the risk allele, rs3865444(C), is associated with greater cell surface expression of CD33 in both...
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