Fig. 5. Functional studies of human-specific genetic changes.

a, The molecular effects of human-specific genetic change can be assayed through transgenesis of model organisms. In this way, small segments of human DNA can be introduced into models and the effects can be studied in controlled experiments. For example, human and non-human regulatory regions can be assayed using reporter assays in developing mouse embryos. Human-specific changes can also be stably introduced into mice or non-human primates (NHPs) through genetic engineering approaches. b,c, Examples of genetic changes between great apes that have been linked to human phenotypes through experimental exploration in mice and NHP models. Blue represents regulatory regions (part b), and orange represents protein-coding variants (part c). These and further examples can be found in Table 1.