Modeling the genetic architecture of modern populations

S. T. Sherry, University Medical Center New Orleans
M. A. Batzer, University Medical Center New Orleans
H. C. Harpending, The University of Utah

Abstract

This article summarizes recent genetic evidence about the population history of our species. There is a congruence of evidence from different systems showing that the genetic effective size of humans is about 10,000 reproducing adults. We discuss how the magnitude and fluctuation of this number over time is important for evaluating competing hypotheses about the nature of human evolution during the Pleistocene. The differences in estimates of effective size derived from high mutation rate and low mutation rate genetic systems allow us to trace broad-scale changes in population size. The ultimate goal is to produce a comprehensive history of our own gene pool and its spread and differentiation over the world. The genetic evidence should also complement archaeological evidence of our past by revealing aspects of our history that are not readily visible from the archaeological record, such as whether hominid populations in the Pleistocene were different species.