Figure 5.
Strong genetic associations between transcriptional disruption and ERVSlc15a2 status in cis. (A) eQTL permutation analysis indicates a very strong association between a SNP (rs4173858) genotype, which serves as a surrogate for ERVSlc15a2 ∼ 137 kb distant, and expression of the Slc15a2 truncated transcript in mouse recombinant inbred BxD strain kidneys. (Red line) The chromosomal position of Slc15a2; (y-axis) P-values were calculated for the association between each SNP at the indicated chromosomal coordinates and truncated Slc15a2 transcript levels. (B, top) Schematic of Affymetrix microarray probe sets detecting (1, 2) truncated or (3) full-length transcripts. (Bottom) Individual expression data (x-axis, log scale) measured by microarray probe sets (1–3) for each recombinant inbred BxD strain with indicated SNP genotypes: (red) B6; (blue) DBA; (black) heterozygous or indeterminate. (C) Box plots showing log of transcript expression versus genotypes: (B) B6; (D) DBA/2J. Error bars indicate SD. P-values for expression differences between genotypes B and D were calculated using a t-test: probe 1 = 1.80 × 10−22; probe 2 = 5.53 × 10−23, and probe 3 = 4.58 × 10−10.