CAREER: Examining the genetic architecture and evolutionary history of skin pigmentation

University Of Southern California, Los Angeles CA

Investigators

Abstract

This CAREER project examines the genetic architecture and evolution of skin pigmentation through collection and analysis of genomic, phenotypic and ethnographic data. With increasing access to large-scale data from understudied populations and corresponding developments in computational methods, there is the opportunity to explore new and long-standing hypotheses about skin pigmentation and other human traits in ways that were previously inaccessible. The project advances knowledge about human biological evolution, variation, and adaptation. The PI’s educational plan tightly integrates scientific activities with a mentored research experience aimed at enhancing quantitative, scientific literacy and science communication skills in minority undergraduate students. To broaden the impact of this project, a targeted portion of the collected genomic and phenotypic data also is incorporated into the laboratory sections of the PI’s undergraduate and graduate-level courses with the goal of increasing content knowledge through hands-on experience. In addition, the project contributes to international research collaborations in anthropological genetics, evolution, and bioinformatics, building bridges that improve cross-cultural participation in research and development of research capacity. With data from human populations that have previously been underrepresented in molecular anthropological research, the PI assesses the epistatic and pleiotropic effects of novel alleles on skin pigmentation and related traits; infers the microevolutionary forces that have shaped the frequency and distribution of significantly associated loci; and investigates phenotypic differences between spatially separated populations with similar genetic backgrounds. Using comparative statistical and empirical methods, this study addresses whether a few adaptive alleles at high frequency underlie phenotypes (classical selection model), or whether selective events occurring at many loci with small to moderate effect sizes contribute to trait variation (polygenic adaptation model), providing new insights into human biological evolution. This project not only advances knowledge in biological anthropology but can also inform research in disciplines such as forensic and dermatological sciences and potentially lead to innovative discoveries translatable from the bench to the biomedical domain. This project is jointly funded by the Build and Broaden 2.0 and Biological Anthropology programs. 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.