Charles E. Kaufman Foundation

2018 New Investigator Grant

Iain Mathieson, Ph.D. Assistant Professor, Department of Genetics, University of Pennsylvania

Complex Traits in Human Evolution


This project will combine information from ancient DNA with data about the genetic basis of human complex traits, in order to describe and explain the history of human adaptive evolution. In particular, we focus on the transition from a hunter-gatherer to an agricultural lifestyle which begins around 6500 BCE in Europe. We will collate published ancient DNA data—genome wide data from skeletal remains—from people who lived before, during and after this transition. We will also collate data on the genetic basis of human complex traits including anthropometric, psychiatric and disease traits. Using this data, we will develop statistical approaches to test for evidence of natural selection by looking for evidence of rapid change in genetic variants that underlie these traits. We will ask whether natural selection or genetic drift can explain present-day variation in these traits. By testing systematically across all variants and traits we will test the hypothesis that increasing population size in recent human history has lead to more effective natural selection. Finally, we will use these results to investigate the source of adaptive variation in humans, and to form hypotheses about how natural selection might operate in other species. Through this project we will learn about the process and history of human adaptation to agriculture, about the extent to which this adaptation affects phenotype in present-day populations, and about the nature of human adaptation more generally.

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