Population bottlenecks and Pleistocene human evolution

We review the anatomical and archaeological evidence for anearly population bottleneck in humans and bracket the time whenit could have occurred. We outline the subsequent demographicchanges that the archaeological evidence of range expansionsand contractions address, and we examine how inbreeding effectivepopulation size provides an alternative view of past populationsize change. This addresses the question of other, more recent,population size bottlenecks, and we review nonrecombining andrecombining genetic systems that may reflect them. We examinehow these genetic data constrain the possibility of significantpopulation size bottlenecks (i.e., of sufficiently small sizeand/or long duration to minimize genetic variation in autosomaland haploid systems) at several different critical times inhuman history. Different constraints appear in nonrecombiningand recombining systems, and among the autosomal loci most areincompatible with any Pleistocene population size expansions.Microsatellite data seem to show Pleistocene population sizeexpansions, but in aggregate they are difficult to interpretbecause different microsatellite studies do not show the sameexpansion. The archaeological data are only compatible witha few of these analyses, most prominently with data from Aluelements, and we use these facts to question whether the viewof the past from analysis of inbreeding effective populationsize is valid. Finally, we examine the issue of whether inbreedingeffective population size provides any reasonable measure ofthe actual past size of the human species. We contend that ifthe evidence of a population size bottleneck early in the evolutionof our lineage is accepted, most genetic data either lack theresolution to address subsequent changes in the human populationor do not meet the assumptions required to do so validly. Itis our conclusion that, at the moment, genetic data cannot disprovea simple model of exponential population growth following abottleneck 2 MYA at the origin of our lineage and extendingthrough the Pleistocene. Archaeological and paleontologicaldata indicate that this model is too oversimplified to be anaccurate reflection of detailed population history, and thereforewe find that genetic data lack the resolution to validly reflectmany details of Pleistocene human population change. However,there is one detail that these data are sufficient to address.Both genetic and anthropological data are incompatible withthe hypothesis of a recent population size bottleneck. Suchan event would be expected to leave a significant mark acrossnumerous genetic loci and observable anatomical traits, butwhile some subsets of data are compatible with a recent populationsize bottleneck, there is no consistently expressed effect thatcan be found across the range where it should appear, and thisabsence disproves the hypothesis.