Genetic changes across language boundaries in Europe

By means of three different methods we investigated whether 59 allele frequencies and ten cranial variables show increased change at 29 language-family boundaries in Europe. The quadrat-variance method compares variances of map quadrats crossed by language-family boundaries to variances of quadrats that are not crossed. The rate-of-change method examines the directional derivative of surfaces of the variables perpendicular to a language-family boundary and compares these derivatives to the same quantities obtained by randomly placing the language boundaries on the map of Europe. The difference method tests whether these variables differ more across language-family boundaries than across randomly placed boundaries. These special data-analytic techniques had to be developed to avoid the problem of spatial autocorrelation of both language and biological data. All three methods indicate increased genetic change at language-family boundaries. Clearer and more pronounced results are obtained by the first two methods than by the difference method. Thirteen language-family boundaries show significant gene frequency change by at least one of the methods. Changes are more marked in gene frequencies than in cranial variables. Different allele frequencies mark the increased change at different language boundaries. A model, based on the known history of each language-family boundary, was constructed to predict whether given boundaries should exhibit increased genetic change. The model is in good agreement with the observed results.     

Spatial patterns of human gene frequencies in Europe

The aims of this study of spatial patterns of human gene frequencies in Europe are twofold. One is to present new methodology developed for the analysis of such data. The other is to report on the diversity of spatial patterns observed in Europe and their interpretation as evidence of population processes. Spatial variation in 59 allele and haplotype frequencies (26 genetic systems) for polymorphisms in blood antigens, enzymes, and proteins is analyzed for an aggregate of 3,384 localities, using homogeneity tests, one-dimensional and directional spatial correlograms, and SYMAP interpolated surfaces. The data matrices are reduced to reveal the principal patterns by clustering techniques. The findings of this study can be summarized as follows: 1) There is significant heterogeneity in allele frequencies among the localities for all but one genetic system. 2) There are significant spatial patterns for most allele frequencies. 3) There is a substantial minority of clinal patterns in these populations. Clinal trends are found more frequently in HLA alleles than for other variables. North-south and northwest-southwest gradients predominate. 4) There is a strong decline in overall genetic similarity with geographic distance for most variables. 5) There are few, if any, appreciable correlations in pairs of allele frequencies over the continent, and there is little interesting correlation structure in the resulting correlation matrix. 6) Few spatial correlograms are markedly similar to each other, yet they form well-defined clusters. Spatial variation patterns, therefore, differ among allele frequencies. Patterns of human gene frequencies in modern Europe are diverse and complex. No single model suffices for interpretation of the observed genetic structure. Some clinal patterns reported here support the Neolithic demic-expansion hypothesis, others suggest latitudinal selection. Most of the clinal patterns are in HLA alleles, but there is also evidence from ABO for east-west migration diffusion. The majority of patterns are patchy, consistent with hypotheses of isolation by distance or of settlement of genetically differing, subsequently expanding ethnic groups. While undoubtedly there has been an ongoing stochastic process of differentiation consistent with the isolation-by-distance model, this has not obscured the directional patterns caused by migration (demic diffusion), and has perhaps only reinforced the contribution from settlement of ethnic units to patterns of genetic variation. However, the impact of the latter is most difficult to discern and requires further methodological developments.     

Indo-European origins: A computer-simulation test of five hypotheses

Allele frequency distributions were generated by computer simulation of five models of microevolution in European populations. Genetic distances calculated from these distributions were compared with observed genetic distances among Indo-European speakers. The simulated models differ in complexity, but all incorporate random genetic drift and short-range gene flow (isolation by distance). The best correlations between observed and simulated data were obtained for two models where dispersal of Neolithic farmers from the Near East depends only on population growth. More complex models, where the timing of the farmers' expansion is constrained by archaeological time data, fail to account for a larger fraction of the observed genetic variation; this is also the case for a model including late Neolithic migrations from the Pontic steppes. The genetic structure of current populations speaking Indo-European languages seems therefore to largely reflect a Neolithic expansion. This is consistent with the hypothesis of a parallel spread of farming technologies and a proto-Indo-European language in the Neolithic. Allele-frequency gradients among Indo-European speakers may be due either to incomplete admixture between dispersing farmers, who presumably spoke proto-Indo-European, and pre-existing hunters and gatherers (as in the traditional demic diffusion hypothesis), or to founder effects during the farmers' dispersal. By contrast, successive migrational waves from the East, if any, do not seem to have had genetic consequences detectable by the present comparison of observed and simulated allele frequencies. © 1995 Wiley-Liss, Inc.     

History of click-speaking populations of Africa inferred from mtDNA and Y chromosome genetic variation

Little is known about the history of click-speaking populations in Africa. Prior genetic studies revealed that the click-speaking Hadza of eastern Africa are as distantly related to click speakers of southern Africa as are most other African populations. The Sandawe, who currently live within 150 km of the Hadza, are the only other population in eastern Africa whose language has been classified as part of the Khoisan language family. Linguists disagree on whether there is any detectable relationship between the Hadza and Sandawe click languages. We characterized both mtDNA and Y chromosome variation of the Sandawe, Hadza, and neighboring Tanzanian populations. New genetic data show that the Sandawe and southern African click speakers share rare mtDNA and Y chromosome haplogroups; however, common ancestry of the 2 populations dates back >35,000 years. These data also indicate that common ancestry of the Hadza and Sandawe populations dates back >15,000 years. These findings suggest that at the time of the spread of agriculture and pastoralism, the click-speaking populations were already isolated from one another and are consistent with relatively deep linguistic divergence among the respective click languages.     

PATTERNS OF ALLOZYME VARIATION IN DIPLOID AND TETRAPLOID CENTAUREA JACEA AT DIFFERENT SPATIAL SCALES

Abstract.— The extent and spatial patterns of genetic variation at allozyme markers were investigated within and between diploid and autotetraploid knapweeds (Centaurea jacea L. sensu lato, Asteraceae) at contrasted geographic scales: (1) among populations sampled from a diploid‐tetraploid contact zone in the northeastern part of the Belgian Ardennes, and (2) within mixed populations from that zone where diploids and tetraploids coexist. Our data were also compared with a published dataset by Sommer (1990) describing allozyme variation in separate diploid and tetraploid knapweeds populations collected throughout Europe. Genetic diversity was higher in tetraploids. In the Belgian Ardennes and within the mixed populations, both cytotypes had similar levels of spatial genetic structure, they were genetically differentiated, and their distributions of allele frequencies were not spatially correlated. In contrast, at the European scale, diploids and tetraploids did not show differentiated gene pools and presented a strong correlation between their patterns of spatial genetic variation. Numerical simulations showed that the striking difference in patterns observed at small and large geographic scales could be accounted for by a combination of (1) isolation by distance within cytotypes; and (2) partial reproductive barriers between cytotypes and/or recurrent formation of tetraploids. We suggest that this may explain the difficulty of the taxonomic treatment of knapweeds and of polyploid complexes in general.     

How do we use language? Shared patterns in the frequency of word use across 17 world languages

We present data from 17 languages on the frequency with which a common set of words is used in everyday language. The languages are drawn from six language families representing 65 per cent of the world's 7000 languages. Our data were collected from linguistic corpora that record frequencies of use for the 200 meanings in the widely used Swadesh fundamental vocabulary. Our interest is to assess evidence for shared patterns of language use around the world, and for the relationship of language use to rates of lexical replacement, defined as the replacement of a word by a new unrelated or non-cognate word. Frequencies of use for words in the Swadesh list range from just a few per million words of speech to 191 000 or more. The average inter-correlation among languages in the frequency of use across the 200 words is 0.73 (p < 0.0001). The first principal component of these data accounts for 70 per cent of the variance in frequency of use. Elsewhere, we have shown that frequently used words in the Indo-European languages tend to be more conserved, and that this relationship holds separately for different parts of speech. A regression model combining the principal factor loadings derived from the worldwide sample along with their part of speech predicts 46 per cent of the variance in the rates of lexical replacement in the Indo-European languages. This suggests that Indo-European lexical replacement rates might be broadly representative of worldwide rates of change. Evidence for this speculation comes from using the same factor loadings and part-of-speech categories to predict a word's position in a list of 110 words ranked from slowest to most rapidly evolving among 14 of the world's language families. This regression model accounts for 30 per cent of the variance. Our results point to a remarkable regularity in the way that human speakers use language, and hint that the words for a shared set of meanings have been slowly evolving and others more rapidly evolving throughout human history.     

On the genetics of prelingual deafness.

In view of the many discordant findings in previous studies regarding the genetics of prelingual deafness, family data (133 nuclear families and 25 pedigrees) were gathered from India. Analysis of these data has revealed that the defect is primarily genetic, which is in agreement with earlier findings. Segregation analysis was performed to compare various autosomal diallelic one-locus and multilocus models. Our analysis revealed that the most parsimonious model for prelingual deafness is that it is controlled by recessive genes at a pair of unlinked diallelic autosomal loci. Individuals are affected if and only if they are recessive homozygous at both loci. The likelihood of the present data under this two-locus multiple recessive homozygosis model is at least 10(8) times higher than that of the one-locus models that were examined in previous studies. This model is also the best-fitting model among other plausible two-locus models.     

Y-chromosome variation among Sudanese: restricted gene flow, concordance with language, geography, and history

We study the major levels of Y-chromosome haplogroup variation in 15 Sudanese populations by typing major Y-haplogroups in 445 unrelated males representing the three linguistic families in Sudan. Our analysis shows Sudanese populations fall into haplogroups A, B, E, F, I, J, K, and R in frequencies of 16.9, 7.9, 34.4, 3.1, 1.3, 22.5, 0.9, and 13% respectively. Haplogroups A, B, and E occur mainly in Nilo-Saharan speaking groups including Nilotics, Fur, Borgu, and Masalit; whereas haplogroups F, I, J, K, and R are more frequent among Afro-Asiatic speaking groups including Arabs, Beja, Copts, and Hausa, and Niger-Congo speakers from the Fulani ethnic group. Mantel tests reveal a strong correlation between genetic and linguistic structures (r = 0.31, P = 0.007), and a similar correlation between genetic and geographic distances (r = 0.29, P = 0.025) that appears after removing nomadic pastoralists of no known geographic locality from the analysis. The bulk of genetic diversity appears to be a consequence of recent migrations and demographic events mainly from Asia and Europe, evident in a higher migration rate for speakers of Afro-Asiatic as compared with the Nilo-Saharan family of languages, and a generally higher effective population size for the former. The data provide insights not only into the history of the Nile Valley, but also in part to the history of Africa and the area of the Sahel.     

Inferring the mode of colonization of the rapid range expansion of a solitary bee from multilocus DNA sequence variation

Rapid geographic range expansions can have dramatic effects on the distribution of genetic diversity, both within and among populations. Based on field records collected over the past two decades in Western Europe, we report on the rapid geographic range expansion in Colletes hederae, a solitary bee species. To characterize how this expansion shaped the distribution of genetic diversity within and among populations, we performed a genetic analysis based on the sequencing of three nuclear loci (RNAp, CAD and WgL). We then simulated the evolution of DNA sequences under a spatially explicit model of coalescence to compare different hypotheses regarding the mode of colonization associated with this rapid expansion and to identify those that are most consistent with the observed molecular data. Our genetic analyses indicate that the range expansion was not associated with an important reduction in genetic diversity, even in the most recently colonized area in the United Kingdom. Moreover, little genetic differentiation was observed among populations. Our comparative analysis of simulated data sets indicates that the observed genetic data are more consistent with a demographic scenario involving relatively high migration rates than with a scenario based on a high reproduction rate associated with few migrants. In the light of these results, we discuss the factors that might have contributed to the rapid geographic range expansion of this pollen‐specialist solitary bee species across Western Europe.     

Do assemblages of Coregonus (Teleostei: Salmoniformes) in the Central Alpine region of Europe represent species flocks?

To examine models of evolution for Coregonus from the Central Alpine region of Europe, 20 populations from nine lakes were assessed for variation at six microsatellite DNA loci. Patterns of variation were tested against three evolutionary models: phenotypic plasticity, multiple invasions of lakes by divergent forms, and within-lake radiation of species flocks. All sympatric and all but one allopatric pairs of populations were significantly divergent in allele frequencies. Pairwise F -statistics indicated reduced gene flow among phenotypically divergent sympatric populations. These results reject the hypothesis that within-lake morphological and ecological diversity reflects phenotypic plasticity within a single gene pool. Genetic similarity was higher among forms within lakes than between populations of the same form in different lakes. Among-lake divergence was primarily a product of allele size differences. Mantel tests contrasting patterns of genetic divergence against patterns predicted from the multiple invasions and species flocks models indicated that the latter is the best explanation of the observed genetic variation. Thus, reproductively isolated species diverged within lakes, with similar patterns repeatedly emerging among lakes. While this study argues for a particular mode of evolution in Central Alpine Coregonus , the taxonomy of these forms remains unresolved.     

Rangewide phylogeography in the greater horseshoe bat inferred from microsatellites: implications for population history, taxonomy and conservation

The distribution of genetic variability across a species' range can provide valuable insights into colonization history. To assess the relative importance of European and Asian refugia in shaping current levels of genetic variation in the greater horseshoe bats, we applied a microsatellite-based approach to data collected from 56 localities ranging from the UK to Japan. A decline in allelic richness from west Asia to the UK and analyses of F(ST) both imply a northwestward colonization across Europe. However, sharp discontinuities in gene frequencies within Europe and between the Balkans and west Asia (Syria/Russia) are consistent with suture zones following expansion from multiple refugia, and a lack of recent gene flow from Asia Minor. Together, these results suggest European populations originated from west Asia in the ancient past, and experienced a more recent range expansion since the Last Glacial Maximum. Current populations in central Europe appear to originate from the Balkans and those from west Europe from either Iberia and/or Italy. Comparisons of R(ST )and F(ST) suggest that stepwise mutation has contributed to differentiation between island and continental populations (France/UK and China/Japan) and also among distant samples. However, pairwise R(ST) values between distant populations appear to be unreliable, probably due to size homoplasy. Our findings also highlight two priorities for conservation. First, stronger genetic subdivision within the UK than across 4000 km of continental Eurasia is most likely the result of population fragmentation and highlights the need to maintain gene flow in this species. Second, deep splits within China and between Europe and China are indicative of cryptic taxonomic divisions which need further investigation.     

Genetic relationships of European populations reflect their ethnohistorical affinities

From 420 records of ethnic locations and movements since 2000 B. C., we computed vectors describing the proportions which peoples of the various European language families contributed to the gene pools within 85 land-based 5 × 5-degree quadrats in Europe. Using these language family vectors, we computed ethnohistorical affinities as arc distances between all pairs of the 85 quadrats. These affinities are significantly correlated with genetic distances based on 26 genetic systems, even when geographic distances, a common causative factor, are held constant. Thus, the ethnohistorical distances explain a significant amount of the genetic variation observed in modern populations. Randomizations of the records by chronology result in loss of significance for the observed partial correlation between genetics and ethnohistory, when geography is held constant. However, a randomization of records by location only results in reduced significance. Thus, while the historical sequence of the movements does not seem to matter in Europe, their geographic locations do. We discuss the implications of these findings. © 1993 Wiley-Liss, Inc.     

What Shall We Talk about in Farsi?

Previous empirical studies have suggested that language is primarily used to exchange social information, but our evidence on this derives mainly from English speakers. We present data from a study of natural conversations among Farsi (Persian) speakers in Iran and show that not only are conversation groups the same size as those observed in Europe and North America, but people also talk predominantly about social topics. We argue that these results reinforce the suggestion that language most likely evolved for the transmission of information about the social world. We also explore sex differences in conversational behavior: while the pattern is broadly similar between the sexes, men may be more sensitive than women are to discussing some topics in the presence of many other people.     

GM haplotype diversity of 82 populations over the world suggests a centrifugal model of human migrations

This study investigates the GM genetic relationships of 82 human populations, among which 10 represent original data, within and among the main broad geographic areas of the world. Different approaches are used: multidimensional scaling analysis and test for isolation by distance, to assess the correlation between genetic variation and spatial distributions; analysis of variance, to investigate the genetic structure at different hierarchical levels of population subdivision; genetic similarity map (geographic map distorted by available genetic information), to identify regions of high and low genetic variation; and minimal spanning network, to point out possible migration routes across continental areas. The results show that the GM polymorphism is characterized by one of the highest amounts of genetic variation observed so far among populations of different continents (Fct=0.3915, P < 0.0001). GM diversity can be explained by a model of isolation by distance (IBD) at most continental levels, with a particularly significant fit to IBD for the Middle East and Europe. Five peripheral regions of the world (Europe, west and south sub-Saharan Africa, Southeast Asia, and America) exhibit a low level of genetic diversity both within and among populations. By contrast, East and North African, Southwest Asian, and Northeast Asian populations are highly diverse and interconnected genetically by large genetic distances. Therefore, the observed GM variation can be explained by a "centrifugal model" of modern humans peopling history, involving ancient dispersals across a large intercontinental area spanning from East Africa to Northeast Asia, followed by recent migrations in peripheral geographic regions.     

Cultural and climatic changes shape the evolutionary history of the Uralic languages

Quantitative phylogenetic methods have been used to study the evolutionary relationships and divergence times of biological species, and recently, these have also been applied to linguistic data to elucidate the evolutionary history of language families. In biology, the factors driving macroevolutionary processes are assumed to be either mainly biotic (the Red Queen model) or mainly abiotic (the Court Jester model) or a combination of both. The applicability of these models is assumed to depend on the temporal and spatial scale observed as biotic factors act on species divergence faster and in smaller spatial scale than the abiotic factors. Here, we used the Uralic language family to investigate whether both ‘biotic’ interactions (i.e. cultural interactions) and abiotic changes (i.e. climatic fluctuations) are also connected to language diversification. We estimated the times of divergence using Bayesian phylogenetics with a relaxed‐clock method and related our results to climatic, historical and archaeological information. Our timing results paralleled the previous linguistic studies but suggested a later divergence of Finno‐Ugric, Finnic and Saami languages. Some of the divergences co‐occurred with climatic fluctuation and some with cultural interaction and migrations of populations. Thus, we suggest that both ‘biotic’ and abiotic factors contribute either directly or indirectly to the diversification of languages and that both models can be applied when studying language evolution.     

HLODs, trait models, and ascertainment: implications of admixture for parameter estimation and linkage detection

Maximizing the homogeneity lod is known to be an appropriate procedure for estimating parameters of the trait model in an approximately 'ascertainment assumption free' (AAF) manner. We have investigated whether this same property also holds for the heterogeneity lod (HLOD). We show that, when the genetic models at linked and unlinked loci differ, HLODs are not AAF, and maximizing the HLOD yields parameter estimates that are for all practical purposes meaningless; indeed, the admixture parameter alpha does not even measure the proportion of linked families within the sample, as is commonly supposed. In spite of this, our results confirm a large body of evidence supporting the use of HLODs as robust tools for linkage detection, and suggest further that maximizing the HLOD over both alpha and parameters of the trait model can improve accuracy in estimation of the recombination fraction theta;. These findings have important implications for the optimal handling of nuisance parameters in linkage analysis, particularly when evaluating the evidence for or against linkage based on multiple independent heterogeneous sets of data.     

Spatial genetic structure of northern pike (Esox lucius) in the Baltic Sea

The genetic relationships among 337 northern pike (Esox lucius) collected from the coastal zone of the central Baltic region and the Finnish islands of Aland were analysed using five microsatellite loci. Spatial structure was delineated using both traditional F-statistics and individually based approaches including spatial autocorrelation analysis. Our results indicate that the observed genotypic distribution is incompatible with that of a single, panmictic population. Isolation by distance appears important for shaping the genetic structure of pike in this region resulting in a largely continuous genetic change over the study area. Spatial autocorrelation analysis (Moran's I) of individual pairwise genotypic data show significant positive genetic correlation among pike collected within geographical distances of less than c. 100-150 km (genetic patch size). We suggest that the genetic patch size may be used as a preliminary basis for identifying management units for pike in the Baltic Sea.     

Genetic Structure of Tibeto-Burman Populations of Bangladesh: Evaluating the Gene Flow along the Sides of Bay-of-Bengal

Human settlement and migrations along sides of Bay-of-Bengal have played a vital role in shaping the genetic landscape of Bangladesh, Eastern India and Southeast Asia. Bangladesh and Northeast India form the vital land bridge between the South and Southeast Asia. To reconstruct the population history of this region and to see whether this diverse region geographically acted as a corridor or barrier for human interaction between South Asia and Southeast Asia, we, for the first time analyzed high resolution uniparental (mtDNA and Y chromosome) and biparental autosomal genetic markers among aboriginal Bangladesh tribes currently speaking Tibeto-Burman language. All the three studied populations; Chakma, Marma and Tripura from Bangladesh showed strikingly high homogeneity among themselves and strong affinities to Northeast Indian Tibeto-Burman groups. However, they show substantially higher molecular diversity than Northeast Indian populations. Unlike Austroasiatic (Munda) speakers of India, we observed equal role of both males and females in shaping the Tibeto-Burman expansion in Southern Asia. Moreover, it is noteworthy that in admixture proportion, TB populations of Bangladesh carry substantially higher mainland Indian ancestry component than Northeast Indian Tibeto-Burmans. Largely similar expansion ages of two major paternal haplogroups (O2a and O3a3c), suggested that they arose before the differentiation of any language group and approximately at the same time. Contrary to the scenario proposed for colonization of Northeast India as male founder effect that occurred within the past 4,000 years, we suggest a significantly deep colonization of this region. Overall, our extensive analysis revealed that the population history of South Asian Tibeto-Burman speakers is more complex than it was suggested before.     

Mitochondrial lineages in Ladin-speaking communities of the eastern Alps.

European mitochondrial alleles cluster into five haplogroups. Haplogroup 2 is rare in general, but represents more than half of the few known sequences among Ladin speakers of the Alps. Here we describe DNA diversity in control region I of the hypervariable D-loop in 43 Ladins, and in 25 Italian speakers. Analysis of these data, and of previously published sequences, confirms a high degree of differentiation among Ladins and their geographical neighbours. This cannot be regarded as a simple effect of isolating factors, geographic or linguistic, as diversity is high within Ladin communities too. Rather, allele genealogies, population trees, and principal component analysis suggest a relationship between Ladin and Near Eastern samples. Two evolutionary hypotheses seem compatible with these findings. The view whereby Ladins could be descended from Palaeolithic inhabitants of the Alps is supported by the identification, in this study, of the probable ancestral haplotype of group 2, never previously observed in central Europe. Alternatively, a comparatively recent, Neolithic immigration of the ancestors of current Ladin speakers seems consistent with recent linguistic theories. In both cases, the number of lineages present, and their extensive diversity, are not compatible with a serious bottleneck in the Ladin population''s history.     

Bringing together linguistic and genetic evidence to test the Bantu expansion

The expansion of Bantu languages represents one of the most momentous events in the history of Africa. While it is well accepted that Bantu languages spread from their homeland (Cameroon/Nigeria) approximately 5000 years ago (ya), there is no consensus about the timing and geographical routes underlying this expansion. Two main models of Bantu expansion have been suggested: The 'early-split' model claims that the most recent ancestor of Eastern languages expanded north of the rainforest towards the Great Lakes region approximately 4000 ya, while the 'late-split' model proposes that Eastern languages diversified from Western languages south of the rainforest approximately 2000 ya. Furthermore, it is unclear whether the language dispersal was coupled with the movement of people, raising the question of language shift versus demic diffusion. We use a novel approach taking into account both the spatial and temporal predictions of the two models and formally test these predictions with linguistic and genetic data. Our results show evidence for a demic diffusion in the genetic data, which is confirmed by the correlations between genetic and linguistic distances. While there is little support for the early-split model, the late-split model shows a relatively good fit to the data. Our analyses demonstrate that subsequent contact among languages/populations strongly affected the signal of the initial migration via isolation by distance.