High-altitude adaptation to understand complex phenotypes
High-altitude adaptation to understand complex phenotypes
Assistant Professor of Anthropology
University of Michigan
High-altitude adaptation to understand complex phenotypes
In the field of biological anthropology, high-altitude adaptation is a classic area of research. High-altitude environments, defined as areas lying above 2,500 meters [m] sea-level, challenge the ability of humans to live and reproduce, i.e., adapt and/or acclimatize. Hypoxia is the fundamental challenge that high-altitude sojourners and residents face, necessitating physiological acclimatization and/or genetic adaptation to overcome it. Over the course of some 11,000 years, humans have colonized the Andean Altiplano (Plateau), which boasts an average height of 12,000 feet (3,700 m). At this altitude, oxygen concentration is only 65% of that at sea level, yet Andeans have flourished under these harsh environmental conditions. Hence, if we could learn the molecular basis for this adaption, it would provide opportunities for new approaches towards treating diseases of chronic hypoxia, such as ischemic heart disease and stroke. Among Andeans, genome scans for natural selection have identified several selection nominated candidate genes or gene regions for high-altitude adaptation. This includes several genes that are part of the hypoxia inducible transcription factor (HIF) pathway involved in oxygen sensing and metabolism as well as other genomic regions. Furthermore, genotype-phenotype association studies have revealed significant associations with altitude-adaptive phenotypes. These results provide key insights into the patterns of genetic adaptation to high altitude in Andean populations, shed light on variants controlling complex phenotypea, and are of potential importance for public health given HIF-pathway involvement with various disease processes, e.g., chronic ischemic disease, regulation of tumor growth.
Dr. Abigail Bigham is an Assistant Professor of Anthropology at the University of Michigan. Dr. Bigham received her B.A. from the University of Arizona and her PhD from The Pennsylvania State University. Her current research is focused on understanding human genetic adaptation to environmental pressures and how these adaptations affect the range of modern human phenotypic diversity.