Supplementary Figure 7: Genotype at rs13102260 drives allele-specific expression of HTT. | Nature Neuroscience

Supplementary Figure 7: Genotype at rs13102260 drives allele-specific expression of HTT.

From: A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

Supplementary Figure 7

The effect of the rs13102260 (A) sequence variant on wild-type and mutant HTT (mHTT) protein expression levels was measured with western blot analysis in HD patient fibroblast lines. Wild-type HTT protein was reduced in the samples with the (A) variant phased to the wild-type allele compared to the (G) variant (G[WT] vs A[WT]) (t(6) = 3.27, P = 0.0169, two-tailed unpaired t-test). mHTT protein was reduced in the samples with the (A) variant phased on the HD disease allele compared to the (G) variant (G[HD] vs A[HD]) (t(6) = 2.46, P = 0.0495). We observed a general reduction of mHTT protein compared to the wild-type protein regardless of genotype. The mHTT protein in the A[WT]G[HD] fibroblast lines was expressed at lower levels compared to the G[WT]G[HD] (t(6) = 3.36, P = 0.0152). The data represents two different fibroblast lines per genotype group including two pellets per cell line (mean ± s.e.m, n = 4). Alleles carrying the rs13102260 (A) sequence variant are labelled in red; (G) variant carriers are indicated in white. For each genotype group, the left bar indicates wild-type HTT levels, and the right bar indicates mHTT levels.

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