Man and the Sea: Genetics in Maritime Populations

Melissa Ann Ilardo

Abstract

For all of human history, the great bodies of water that cover our planet have been influencing our cultural and genetic evolution. In this thesis, I use population and evolutionary genomics to explore two ways in which modern and ancient human populations have been shaped by the sea. Using the empirical and analytical methods that have been developed in the past several decades to extract and sequence DNA from ancient material, I first investigated humans inhabiting one of Earth’s harshest marine environments; the high arctic. I sequenced human samples from three cultural and geographical contexts spanning a period of 7,000 years. With this data, I was able to explore potential source populations for an observed arctic signature in northern Native Americans (or “First Peoples”), population replacement in the Aleutian Islands, and whether a genetic component underlies the observed cultural adaptation to marine resources that is thought to have made expansion into the arctic possible. In another hemisphere, and using an entirely different set of analytical techniques, I investigated adaptation to a marine-dependent lifestyle in a population called the Bajau. This population along with other so-called “Sea Nomads” is known to have extraordinary breath-holding abilities. The Bajau have been living a marine hunter-gatherer existence for millennia, and have an under-water working time on the order of marine mammals such as the sea otter. Using whole-genome sequencing data paired with physiological measurements, I was able to show that the unique lifestyle of the Bajau has indeed induced a number of genetic adaptations and corresponding phenotypic changes, making them one of the rare examples of adaptation in modern humans.

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