Figure 7.
The consequence of a C→T change in the 5′ UTR of puratrophin-1 mRNA. A, The puratrophin-1 mRNA level assessed relative to G3PDH mRNA levels. The puratrophin-1 mRNA levels in the cerebella of individuals with chromosome 16q22.1–linked ADCA appear slightly decreased compared with levels in control individuals. B, Quantitative analysis of puratrophin-1 mRNA, with the use of the TaqMan technique in cerebellar mRNAs of four control individuals (with AD) and of two individuals with chromosome 16q22.1–linked ADCA. Both total puratrophin-1 mRNA (i.e., full-length and short-form mRNAs) and short-form puratrophin-1 mRNAs tended to be reduced in cerebella of individuals with chromosome 16q22.1–linked ADCA, although the significance was not statistically proven (P=.0641 for total mRNA; P=.1649 for short-form mRNA). C, Histogram of in vivo luciferase assay. “F/R” denotes fire-fly luciferase activity versus Renilla activity. The wild-type construct with allele C increases luciferase expression compared with an empty vector (Mock), whereas the mutant construct with allele T demonstrates significantly reduced luciferase activity (P<.001).