Follow
"In 1988, physician scientists discovered LINE-1 insertional mutations in the blood-clotting gene factor VIII in two unrelated individuals with hemophilia, providing the foundation that LINE-1 is an active mobile element in humans (Kazazian et al. 1988). In the 35 yr since this landmark discovery, >100 LINE-1-mediated insertional mutations resulting from germline retrotransposition have been shown to cause human genetic diseases (Hancks and Kazazian 2016). In each example, LINE-1 activity inserted a retrotransposon sequence at a critical gene sequence and caused a loss-of-function allele."
