Kelsey Jorgensen

KELSEY JORGENSEN, University of California, Los Angeles, California, received a grant to aid research on “Investigating High-altitude Adaptation in Nepali Sherpa and Peruvian Quechua Using Genomic and Transcriptomic Data.” Himalayan and Andean populations have thrived at high altitude for thousands of years despite severe pressures on human physiology from low oxygen concentrations, known as hypoxia. Previous studies have identified hypoxia-inducible factor (HIF) pathway genes under positive selection in these two high-altitude populations that are correlated with different adaptive physiological traits. However, the precise role of HIF signaling and its association with these divergent phenotypes is complex and still not fully understood. This project merges genomic, transcriptomic, and physiological data from two populations — Quechua speakers from the Peruvian Andes and Nepali Sherpa from the Himalayan Plateau — to identify variant(s) along the HIF pathway that could be underlying the genetic basis for protective adaptations to hypoxia. Lastly, this project focuses on the spleen, an organ with a primary role in red blood cell metabolism and mobilization, to clarify the role of this organ in amplified O2 carrying capacity among Nepali Sherpa at high altitudes. By harnessing multiple methods across a comparative population analysis, this project provides greater insights into long-standing anthropological questions on human adaptation to high altitude.