CAREER: Characterizing the rates and patterns of mutation and recombination in Old and New World monkeys

Project: Research project

Project Details


An understanding of the evolutionary forces and genetic processes that dictate the dynamics governing
mutation is essential for illuminating the genetic underpinnings of disease and the chronology of primate
evolution with current practice generally assuming a steady, clock-like accumulation of mutations over
deep time. Yet, rates and patterns of mutation and recombination (which itself plays a critical role in
dictating evolutionary outcomes) vary markedly between species. This observation not only casts doubt
on the validity of the 'molecular clock', it also raises an important question: Given that the molecular
machinery of cells is strongly conserved across primates, which factors underlie this species-level
heterogeneity? Different hypotheses have been put forward, focusing on both the organismal and cellular
level, but discerning amongst them has proven difficult in the absence of comparative genomic datasets
of closely related species that differ only in the key implicated traits. Primates are a perfect model system
in this regard: on the one hand, they exhibit a highly conserved cellular machinery and the limited
differences that do exist in species-specific germline developmental processes (e.g., rates of
spermatogenesis) are relatively well characterized (at least in those species used in biomedical research);
on the other hand, a multitude of life history traits (e.g., age of puberty and reproduction), as well as
correlated traits such as body size, metabolic rate, longevity, and the degree of sperm competition in
different mating systems, persist across the primate clade. By performing a series of comparative
analyses based on both publicly available data from great apes and Old World monkeys, as well as newly
generated genomic resources for New World monkeys (titi monkeys and marmosets), this project aims to
identify genomic features and quantify evolutionary processes that are driving these changes across
primates. Given the nature of the work, the educational arm of this research will focus on teaching
students the elementary skills of computational genomics.
Intellectual Merit.
As important outgroups to the ape lineage, novel insights into the rates and patterns of mutation and
recombination in Old and New World monkeys will forward current debates centered around a potential
gradual hominoid slowdown of the germline mutation rate (and thus a change of the 'molecular clock').
This knowledge is critically important to evaluate 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.
Further, knowledge of the baseline levels of linkage disequilibrium in titi monkeys and marmosets will
enable future genome-wide association studies in these species often used in behavioural research.
Lastly, this uniform dataset across several non-human primates will provide the biomedical and
evolutionary research communities with the necessary means to pursue new (and improved) research
avenues in comparative genomics.
Broader Impacts.
As an active member of Google's Women Techmakers community aiming to provide visibility to women
in computer science, the PI is already involved in a number of outreach activities to increase participation
of female-identifying and non-binary students in STEM. In line with these efforts, this project will develop
an educational framework to (i) teach undergraduates, particularly women and underrepresented
minorities in STEM, the elementary skills of computational genomics by actively engaging them in
explorative original research; (ii) offer mentored research opportunities to undergraduate and graduate
students; and (iii) organize an annual symposium at which students will be able to showcase their work to
the public. As the acquired computational skills are easily applicable to a wide-range of modern-day jobs,
these activities will directly further the development of a diverse, globally competitive workforce. This
project will also increase public engagement with science by (iv) setting-up a citizen-science project to
engage the public in the study of Sonoran Desert genomic diversity; and (v) developing outreach
materials for Arizona State Universitys "Ask a Biologist" website to promote scientific literacy among
children and K-12 students. Taken together, the proposed activities will build a strong foundation of a firstgeneration
early-stage female investigator in computational genomic research, education, and outreach.
Effective start/end date2/15/211/31/26


  • National Science Foundation (NSF): $1,177,451.00


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