Genetic and Epigenetic Explorations of the Impact of UVR & Hypoxia on the Evolutionary Histories of High-Altitude Indigenous Andean Populations Restricted; Files & ToC
Pryor, Yemko (Summer 2025)
Abstract
Life at high-altitude poses numerous challenges to human health and overall survival. Yet, human populations have thrived in high-altitude regions across the world for millennia1. Because of this, high-altitude populations carry unique traits, enabling them to inhabit such harsh environmental conditions and therefore encompass vital prospects for understanding and exploring human evolution2. Key selective pressures must be considered in framing significant variation with potential adaptive consequences. The high ultraviolet radiation (UVR) exposure and low atmospheric density, constituting high-altitude environments, provide informative selective pressures to investigate. While volumes of work have been produced for this exact pursuit, limitations to the inclusion of diverse populations, perspectives, and methods have restricted the scope of this research. This is seen in the narrow description of skin pigmentation variation in humans, due to stagnant consideration of diverse populations and biocultural contributions shaping variation in this adaptive trait3,4. Additionally, adaptive responses to low-oxygen rich environments have been extended and complicated through increased inclusion of diverse Indigenous Andean populations5. These complications grow when considering the potential facultative nature of adaptive traits, as both UV, and hypoxic conditions fluctuate as populations travel, and seasons change6,7. This suggests the importance of exploring regulatory networks modulating adaptive phenotypes, as well as the constitutive genetic variants sustaining them.
This dissertation seeks to initiate exploration into the intersections of both epigenetic and genetic variation and their effects on the evolutionary histories of high-altitude Andean individuals. By positioning this work in the framework of past studies, this dissertation will showcase the novelty and importance of taking multi-omic approaches to study human evolution. Additionally, we expound upon the importance of increasing representation from diverse global communities, especially the Indigenous Peoples of South and Central America, and how historical perspectives continue to shift, resulting from these kinds of dynamic approaches. We first explore skin pigmentation evolution and showcase the limitations and advancements made in the field after considering diverse biological and biocultural themes. We then showcase the significant nature of exploratory epigenomics in conversation with adaptive phenotypes and phenotypic plasticity and confirm the presence of population-specific differences in DNA methylation (DNAm) motifs. We find overlap between these motifs of differential DNAm, and traits associated with both high-altitude hypoxia and skin pigmentation response and variation. Finally, we explore entire genomes of Indigenous Andeans, Amazonians, and Central Americans, uncovering population-specific signals of selection. These signals associate with networks varying vascular and DNA repair maintenance activity and overlap with epigenetic marks. Together, our whole-methylome and whole-genome sequence data constitute the first combined dataset of its kind, generated for Indigenous Americans. Our work incites further exploration into the impacts of synergistic epigenetic and genetic interactions and their influence on human evolution.
Table of Contents
This table of contents is under embargo until 21 August 2031
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File download under embargo until 21 August 2031 | 2025-07-01 14:56:54 -0400 | File download under embargo until 21 August 2031 |
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