Figure 5: Effects of MEIs on gene expression.

(a) Schematic picture indicating an AluYa5 insertion in the promoter region of LCLAT1. (b) LCLAT1 gene expression (log2 of normalized read count) in blood from GoNL individuals who are heterozygous (het) or homozygous (hom) for the AluYa5 insertion. (c) RNA expression effects of an AluYb8 insertion in the last exon of ZNF880. The presence of the AluYb8 element results in spliced transcripts, which preferentially contain the last exon, while the before last exon is skipped (upper panel). The reverse effect is seen in the absence of the AluYb8 insertion (lower panel).