Figure 1

Conservation profiles of the LDLR locus using close (primate) and distant (human-mouse) species comparisons. (a) Human-mouse and (b) multiple primate (human, baboon, colobus, dusky titi, marmoset, and owl monkey) conservation profiles were calculated using Gumby and visualized using RankVISTA (see Materials and methods) and displayed with the human sequence as reference. Only about 6 kilobases (kb) of the 5' intergenic region is shown because of incomplete primate sequence availability. The entire 3' intergenic region was included in the analysis. Vertical bars depict conserved exonic (light blue) and nonexonic (red) sequences, with height indicating statistical significance of sequence conservation (see Materials and methods). LDLR coding exons (dark blue) and untranslated regions (UTRs; magenta) are marked below the conservation plots. Arrows denote the two highest-scoring primate-specific elements (PS1 and PS2). The inset shows the human-mouse VISTA plot for element PS2, with the vertical axis representing sequence identity calculated over a 100 base pair (bp) window.