The effect of ancient population bottlenecks on human phenotypic variation (original) (raw)
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Craniometric variation, genetic theory, and modern human origins
American Journal of Physical Anthropology, 1994
Recent controversies surrounding models of modern human origins have focused on among-group variation, particularly the reconstruction of phylogenetic trees from mitochondria1 DNA (mtDNA) and the dating of population divergence. Problems in tree estimation have been seen as weakening the case for a replacement model and favoring a multiregional evolution model. There has been less discussion of patterns of within-group variation, although the mtDNA evidence has consistently shown the greatest diversity within African populations. Problems of interpretation abound given the numerous factors that can influence within-group variation, including the possibility of earlier divergence, differences in population size, patterns of population expansion, and variation in migration rates. We present a model of within-group phenotypic variation and apply it to a large set of craniometric data representing major Old World geographic regions (57 measurements for 1,159 cases in four regions: Europe, Sub-Saharan Africa, Australasia, and the Far East). The model predicts a linear relationship between variation within populations (the average within-group variance) and variation between populations (the genetic distance of populations to pooled phenotypic means). On a global level this relationship should hold if the long-term effective population sizes of each region are correctly specified. Other potential effects on withingroup variation are accounted for by the model. Comparison of observed and expected variances under the assumption of equal effective sizes for four regions indicates significantly greater within-group variation in Africa and significantly less within-group variation in Europe. These results suggest that the long-term effective population size was greatest in Africa. Closer examination of the model suggests that the long-term African effective size was roughly three times that of any other geographic region. Using these estimates of relative population size, we present a method for analyzing ancient population structure, which provides estimates of ancient migration. This method allows us to reconstruct migration history between geographic regions after adjustment for the effect of genetic drift on interpopulational distances. Our results show a clear isolation of Africa from other regions. We then present a method that allows direct estimation of the ancient migration matrix, thus providing us with information on the actual extent of interregional migration. These methods also provide estimates of time frames necessary to reach genetic equilibrium. The ultimate goal is extracting as much
Proceedings of the National Academy of Sciences, 2009
The interpretation of genetic evidence regarding modern human origins depends, among other things, on assessments of the structure and the variation of ancient populations. Because we lack genetic data from the time when the first anatomically modern humans appeared, between 200,000 and 60,000 years ago, instead we exploit the phenotype of neurocranial geometry to compare the variation in early modern human fossils with that in other groups of fossil Homo and recent modern humans. Variation is assessed as the mean-squared Procrustes distance from the group average shape in a representation based on several hundred neurocranial landmarks and semilandmarks. We find that the early modern group has more shape variation than any other group in our sample, which covers 1.8 million years, and that they are morphologically similar to recent modern humans of diverse geographically dispersed populations but not to archaic groups. Of the currently competing models of modern human origins, some are inconsistent with these findings. Rather than a single out-of-Africa dispersal scenario, we suggest that early modern humans were already divided into different populations in Pleistocene Africa, after which there followed a complex migration pattern. Our conclusions bear implications for the inference of ancient human demography from genetic models and emphasize the importance of focusing research on those early modern humans, in particular, in Africa. early anatomically modern humans ͉ evolution ͉ migration ͉ morphological ͉ morphometrics
Brief Communication: Human cranial variation fits iterative founder effect model with African origin
American Journal of Physical Anthropology, 2008
Recent studies comparing craniometric and neutral genetic affinity matrices have concluded that, on average, human cranial variation fits a model of neutral expectation. While human craniometric and genetic data fit a model of isolation by geographic distance, it is not yet clear whether this is due to geographically mediated gene flow or human dispersal events. Recently, human genetic data have been shown to fit an iterative founder effect model of dispersal with an African origin, in line with the out-of-Africa replacement model for modern human origins, and Manica et al. (Nature 448 (2007) 346-349) have demonstrated that human craniometric data also fit this model. However, in contrast with the neutral model of cranial evolution suggested by previous studies, Manica et al. (2007) made the a priori assumption that cranial form has been subject to climatically driven natural selection and therefore correct for climate prior to conducting their analyses. Here we employ a modified theoretical and methodological approach to test whether human cranial variability fits the iterative founder effect model. In contrast with Manica et al. (2007) we employ size-adjusted craniometric variables, since climatic factors such as temperature have been shown to correlate with aspects of cranial size. Despite these differences, we obtain similar results to those of Manica et al. (2007), with up to 26% of global within-population craniometric variation being explained by geographic distance from sub-Saharan Africa. Comparative analyses using non-African origins do not yield significant results. The implications of these results are discussed in the light of the modern human origins debate.
Journal of anthropological sciences = Rivista di antropologia : JASS / Istituto italiano di antropologia, 2014
The study of cranial variation has a long, and somewhat difficult, history within anthropology. Much of this difficulty is rooted in the historical use of craniometric data to justify essentialist typological racial classification schemes. In the post-war era of the "New Physical Anthropology" (sensu Washburn, 1951), anthropologists began to analyse human variation in an explicitly populationist and evolutionary philosophical and analytical framework. However, even within recent decades, substantially different approaches have been employed; some advocate a focus on the analysis of individual traits or clines, while others are explicitly adaptationist, with a focus on natural selection as the preeminent force of phenotypic diversification. In recent years, a series of studies have analysed craniometric data in an explicitly quantitative genetic framework, which emphasises the importance of neutral forces such as migration, gene flow and genetic drift in creating global pat...
The origins of modern humans have been the central debate in palaeoanthropology during the last decade. We examine the problem in the context of the history of anthropology, the accumulating evidence for a recent African origin, and evolutionary mechanisms. Using a historical perspective, we show that the current controversy is a continuation of older conflicts and as such relates to questions of both origins and diversity. However, a better fossil sample, improved dates, and genetic data have introduced new perspectives, and we argue that evolutionary geography, which uses spatial distributions of populations as the basis for integrating contingent, adaptive, and demographic aspects of microevolutionary change, provides an appropriate theoretical framework. Evolutionary geography is used to explore two events: the evoltuion of the Neanderthal lineage and the relationship between an ancestral bottleneck with the evolution of anatomically modern humans and their diversity. We argue that the Neanderthal and modern lineages share a common ancestor in an African population between 350,000 and 250,000 years ago rather than in the earlier Middle Pleistocene; this ancestral population, which developed mode 3 technology (Levallois/Middle Stone Age), dispersed across Africa and western Eurasia in a warmer period prior to independent evolution towards Neanderthals and modern humans in stage 6. Both lineages would thus share a common large-brained ancestry, a technology, and a history of dispersal. They differ in the conditions under which they subsequently evolved and their ultimate evolutionary fate. Both lineages illustrate the repeated interactions of the glacial cycles, the role of cold-arid periods in producing fragmentation of populations, bottlenecks, and isolation, and the role of warmer periods in producing trans-African dispersals.
GENETIC PERSPECTIVES ON HUMAN ORIGINS AND DIFFERENTIATION
Annual Review of Genomics and Human Genetics, 2000
Key Words human origins, population expansion, race, Garden of Eden hypothesis, multiregional hypothesis s Abstract This is a review of genetic evidence about the ancient demography of the ancestors of our species and about the genesis of worldwide human diversity. The issue of whether or not a population size bottleneck occurred among our ancestors is under debate among geneticists as well as among anthropologists. The bottleneck, if it occurred, would confirm the Garden of Eden (GOE) model of the origin of modern humans. The competing model, multiregional evolution (MRE), posits that the number of human ancestors has been large, occupying much of the temperate Old World for the last two million years. While several classes of genetic marker seem to contain a strong signal of demographic recovery from a small number of ancestors, other nuclear loci show no such signal. The pattern at these loci is compatible with the existence of widespread balancing selection in humans. The study of human diversity at (putatively) neutral genetic marker loci has been hampered since the beginning by ascertainment bias since they were discovered in Europeans. The high levels of polymorphism at microsatellite loci means that they are free of this bias. Microsatellites exhibit a clear almost linear diversity gradient away from Africa, so that New World populations are approximately 15% less diverse than African populations. This pattern is not compatible with a model of a single large population expansion and colonization of most of the Earth by our ancestors but suggests, instead, gradual loss of diversity in successive colonization bottlenecks as our species grew and spread.
Multivariate Apportionment of Global Human Craniometric Diversity
Extensive research in human genetics on presumably neutral loci has shown that the overwhelming majority of human diversity is found among individuals within local populations. Previous apportionments of craniometric diversity are similar to these genetic apportionments, implying that interregionally differing selection pressures have played a limited role in producing contemporary human cranial diversity. Here we show that when cranial variation is independently partitioned using principal components analysis of Mosimann shape variables, some estimates of interregional craniometric differentiation are larger than those for most genetic loci. These estimates are similar to estimates for genetic loci where interregionally differing selection pressures are implicated in producing the observed patterns of variation within and among regions. These results suggest that differences among regions in at least some cranial features, particularly in the nasal region, are in part the product of interregionally differing selection pressures. Moreover, these results have implications for assessing the biological affinities of prehistoric samples that are temporally separated from contemporary human reference populations. Am