Genomes – the blueprints of life – evolve over time. Underlying this evolutionary change are spontaneous mutations in the germline (egg and sperm cells) that are passed on to the next generation. In addition, during the creation of germ cells, variations present in a parent's maternally and paternally derived chromosomes are shuffled into novel combinations by a process called recombination. For nearly a century, we have known that rates and patterns of mutation and recombination vary markedly across the tree of life – yet, we still know surprisingly little about the underlying causes. By performing a series of comparative genomic analyses, this research aims to identify genomic features and quantify evolutionary processes that are driving these changes across the primate clade. Gaining a better understanding of these processes is of fundamental importance, not only mechanistically, but also clinically, as deleterious mutations and aberrant recombination can cause abnormalities that lead to genetic disease and developmental disabilities. The educational arm of this project focuses on multiple activities to teach the elementary skills of bioinformatics and computational genomics by offering i) a course-based undergraduate research experience (CURE) that actively engages students in explorative original research, ii) mentored research opportunities in the PI's lab, and iii) coding workshops for female-identifying and non-binary high school students, groups traditionally underrepresented in this field. To increase public engagement with science, this project will additionally construct citizen-science activities and develop outreach materials to promote scientific literacy among K-12 students.
The goal of this research is to characterize the extent and time-scale at which changes in the rates and patterns of mutation and recombination have evolved across the primate clade by implementing a streamlined comparative genomics analysis pipeline. To this end, the project takes advantage of both publicly available data and newly generated genomic resources for great apes as well as Old and New World monkeys to i) characterize the variation in mutation rate among families and between species, ii) quantify male mutation biases and parental age effects in the species, iii) improve our understanding of the influence of life history traits and sexual mating systems on mutation rate in primates, and iv) infer recombination rate variation across primates. The gained knowledge will enable the evaluation of competing evolutionary models aiming to explain the heterogeneity observed amongst primates, and elucidate the underlying population-level and genetic factors at play, ultimately leading to an improved understanding of the chronology of primate evolution.
This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.
