Evolutionary History and Genetic Variation of Macaca mulatta and Macaca fascicularis

Abstract The geographic distributions of rhesus and cynomolgus macaques exceed those of all other nonhuman primate (NHP) species and encompass regional populations that are genetically distinct. Indian and Chinese rhesus macaques represent the two most divergent regional populations of rhesus macaques, whereas the Indochinese cynomolgus macaque reflects an introgression of Chinese rhesus macaque genes. Genome variant discovery studies have not only informed the evolutionary history of macaques, but also have provided insight into the range of potential functional alleles and diversity among populations. The challenge ahead is to more fully characterize the natural variation within and between macaque species, both to maximize the utility of macaques as models of human disease, as well as to inform their use in the development and testing of pharmacogenetic drug therapies.