Genetic drift and gene flow in post-famine Ireland

This is the published version, also available here: http://www.jstor.org/stable/41465570

Temporal Trends in Migration in the Åland Islands: Effects of Population Size and Geographic Distance

This is the published version. Copyright 1994 Wayne State University Press.Using a model developed by Relethford (1992), we assess temporal trends (1750-1949) in marital migration in the Aland Islands, Finland, in relation to both geographic distance and population size. The 200-year time period was divided into four 50-year periods. For all time periods both geographic distance and population size are important determinants of migration among 15 Lutheran parishes. The geographic distance parameter of the model decreases significantly over time, and the population size parameter fluctuates slightly but shows no significant change over time. For all time periods migration is negative density dependent, indicating that there is greater relative flow from larger to smaller subdivisions. Even though both the geographic distance and population size parameters are statistically significant, the analysis suggests that geographic distance has a greater relative effect on migration than population size. There is a clear indication of isolate breakdown during the last two time periods (1850-1899 and 1900-1949). Residual analysis indicated that the smallest parish (Sottunga) was a major outlier that showed greater exogamy (less endemicity) than expected from the model

Craniometric Data Supports Demic Diffusion Model for the Spread of Agriculture into Europe

BACKGROUND:The spread of agriculture into Europe and the ancestry of the first European farmers have been subjects of debate and controversy among geneticists, archaeologists, linguists and anthropologists. Debates have centred on the extent to which the transition was associated with the active migration of people as opposed to the diffusion of cultural practices. Recent studies have shown that patterns of human cranial shape variation can be employed as a reliable proxy for the neutral genetic relationships of human populations. METHODOLOGY/PRINCIPAL FINDINGS:Here, we employ measurements of Mesolithic (hunter-gatherers) and Neolithic (farmers) crania from Southwest Asia and Europe to test several alternative population dispersal and hunter-farmer gene-flow models. We base our alternative hypothetical models on a null evolutionary model of isolation-by-geographic and temporal distance. Partial Mantel tests were used to assess the congruence between craniometric distance and each of the geographic model matrices, while controlling for temporal distance. Our results demonstrate that the craniometric data fit a model of continuous dispersal of people (and their genes) from Southwest Asia to Europe significantly better than a null model of cultural diffusion. CONCLUSIONS/SIGNIFICANCE:Therefore, this study does not support the assertion that farming in Europe solely involved the adoption of technologies and ideas from Southwest Asia by indigenous Mesolithic hunter-gatherers. Moreover, the results highlight the utility of craniometric data for assessing patterns of past population dispersal and gene flow

Inferring Geographic Coordinates of Origin for Europeans Using Small Panels of Ancestry Informative Markers

Recent large-scale studies of European populations have demonstrated the existence of population genetic structure within Europe and the potential to accurately infer individual ancestry when information from hundreds of thousands of genetic markers is used. In fact, when genomewide genetic variation of European populations is projected down to a two-dimensional Principal Components Analysis plot, a surprising correlation with actual geographic coordinates of self-reported ancestry has been reported. This substructure can hamper the search of susceptibility genes for common complex disorders leading to spurious correlations. The identification of genetic markers that can correct for population stratification becomes therefore of paramount importance. Analyzing 1,200 individuals from 11 populations genotyped for more than 500,000 SNPs (Population Reference Sample), we present a systematic exploration of the extent to which geographic coordinates of origin within Europe can be predicted, with small panels of SNPs. Markers are selected to correlate with the top principal components of the dataset, as we have previously demonstrated. Performing thorough cross-validation experiments we show that it is indeed possible to predict individual ancestry within Europe down to a few hundred kilometers from actual individual origin, using information from carefully selected panels of 500 or 1,000 SNPs. Furthermore, we show that these panels can be used to correctly assign the HapMap Phase 3 European populations to their geographic origin. The SNPs that we propose can prove extremely useful in a variety of different settings, such as stratification correction or genetic ancestry testing, and the study of the history of European populations

The Stem Species of Our Species: A Place for the Archaic Human Cranium from Ceprano, Italy

One of the present challenges in the study of human evolution is to recognize the hominin taxon that was ancestral to Homo sapiens. Some researchers regard H. heidelbergensis as the stem species involved in the evolutionary divergence leading to the emergence of H. sapiens in Africa, and to the evolution of the Neandertals in Europe. Nevertheless, the diagnosis and hypodigm of H. heidelbergensis still remain to be clarified. Here we evaluate the morphology of the incomplete cranium (calvarium) known as Ceprano whose age has been recently revised to the mid of the Middle Pleistocene, so as to test whether this specimen may be included in H. heidelbergensis. The analyses were performed according to a phenetic routine including geometric morphometrics and the evaluation of diagnostic discrete traits. The results strongly support the uniqueness of H. heidelbergensis on a wide geographical horizon, including both Eurasia and Africa. In this framework, the Ceprano calvarium – with its peculiar combination of archaic and derived traits – may represent, better than other penecontemporaneous specimens, an appropriate ancestral stock of this species, preceding the appearance of regional autapomorphic features

Evaluation of Group Genetic Ancestry of Populations from Philadelphia and Dakar in the Context of Sex-Biased Admixture in the Americas

Population history can be reflected in group genetic ancestry, where genomic variation captured by the mitochondrial DNA (mtDNA) and non-recombining portion of the Y chromosome (NRY) can separate female- and male-specific admixture processes. Genetic ancestry may influence genetic association studies due to differences in individual admixture within recently admixed populations like African Americans.We evaluated the genetic ancestry of Senegalese as well as European Americans and African Americans from Philadelphia. Senegalese mtDNA consisted of approximately 12% U haplotypes (U6 and U5b1b haplotypes, common in North Africa) while the NRY haplotypes belonged solely to haplogroup E. In Philadelphia, we observed varying degrees of admixture. While African Americans have 9-10% mtDNAs and approximately 31% NRYs of European origin, these results are not mirrored in the mtDNA/NRY pools of European Americans: they have less than 7% mtDNAs and less than 2% NRYs from non-European sources. Additionally, there is <2% Native American contribution to Philadelphian African American ancestry and the admixture from combined mtDNA/NRY estimates is consistent with the admixture derived from autosomal genetic data. To further dissect these estimates, we have analyzed our samples in the context of different demographic groups in the Americas.We found that sex-biased admixture in African-derived populations is present throughout the Americas, with continual influence of European males, while Native American females contribute mainly to populations of the Caribbean and South America. The high non-European female contribution to the pool of European-derived populations is consistently characteristic of Iberian colonization. These data suggest that genomic data correlate well with historical records of colonization in the Americas

Bioassay of Kinship From Continuous Traits

Bioassay of kinship from continuous data is discussed in terms of the relationship between metric similarity and kinship, and between metric dissimilarity and hybridity, a function of kinship. Univariate and multivariate methods of bioassay are described with reference to their incorporation in the isolation by distance model of population structure. Simplified methods are given for the estimation of the parameters of this model given pairwise matrices of geographic distance, metric distance, and an independent estimate of kinship. Application of these methods is shown using anthropometric and surname data collected in rural western Ireland during the 1930’s. The results indicate internal comparability and parameters in agreement with those obtained from other studies of rural European population structure

Estimation of Kinship and Genetic Distance from Surnames

Measures of genetic structure, such as inbreeding and kinship, may be derived from the analysis of surname distributions within and among populations. This paper considers the estimation of kinship and genetic distance from surnames. Two methods are provided for the estimation of kinship relative to a founding population (a priori kinship) and kinship relative to a contemporary region (conditional kinship). In most studies of population structure the latter measure is more informative. Measures of genetic distance are derived from the different kinship estimates and are shown to all be proportional to one another. Methods are provided for estimation of the degree of microdifferentiation and isolation by distance parameters based on surnames. These methods are applied to data from 18 samples from 12 human populations

Commentary on Sokal et al.\u27s Historical Population Movements in Europe Influence Genetic Relationships in Modern Samples (1996)

The paper reprinted here is one of many of Sokal\u27s innovative approaches to population genetics, adroitly integrating anthropological data and hypotheses and genetic data in a rigorous and statistically precise manner. The focus of the paper is the use of ethnohistorical data to test the hypotheses of the influence of historical population movements over the past 4,000 years on the genetic structure of contemporary human populations across Europe. Sokal et al. used ethnohistorical data to construct a distance measure based on the likely relative ancestral contribution of different ethnic groups, which were defined in terms of language family membership. They found a significant correlation with genetic distance that was derived from a large sample of classical genetic markers. Further, they showed that this correlation remained even after controlling for geographic distance, thus showing that the expected relationship was not a byproduct of spatial autocorrelation. In addition, they found that the strength of the correlations increased over time, particularly during the past 400 years