Genetic Adaptation to High Altitudes: What Genotypes and What Phenotypes are Involved?

Summary

The question of whether human populations have adapted genetically to high altitude (HA) has been of interest since studies began there in the early 1900s. Throughout the 20th century the dominant paradigm was that the major physiological attributes of HA residents were acquired during development or reflected other shorter-term processes. With the advent of genomic technologies and statistical methods for detecting genetic evidence of natural selection, a paradigm shift and an exponential rise in the number of publications reporting genetic adaptation in HA populations has occurred. Yet three key questions remain. First, are the current inhabitants of HA regions genetically related to prehistoric inhabitants? Second, are convergent or divergent evolutionary processes involved in genetic adaptation to HA? And third, what is the relationship between the genes (or genomic regions) and the particular physiologic traits of HA residents? The latter is probably the most difficult of all and requires not only more complete, whole genome sequencing but also more explicit testing of the particular pathways by which selected-for gene regions are acting.

This Resource is Part of the Following Collections

• Society for American Archaeology 81st Annual Meeting, Orlando, FL (2016)   •
• The Role of High Altitude Landscapes in the Peopling of the New World

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