The variant is a naturally occurring gain of function mutation that has been shown to have 8 to 12 times greater activity levels than the wildtype gene. (frontlinegenomics.com)
Using chronically infected mouse models, as in the first study, the investigators found that while such gain of function does occur briefly, the epigenetic switches from its previous, exhausted state remain largely unchanged. (sciencedaily.com)
ERG abnormalities are evident by 5 — 6 weeks of age and cell degeneration is present by 4 months, suggesting the mutant protein has a toxic gain of function that severely compromises the early stage of development of the photoreceptors. (cgejournal.biomedcentral.com)