Population genetic studies in the Balkans. II. DNA-STR-systems

Within a study of the genetics of Southeastern European populations four DNA-STR-systems (D21S11, FGA, TH01, VWA) were examined in seven samples (samples of three Aromuns and four other Balkan populations). The results have been compared to data from four samples from literature (Austrians, Germans, Hungarians, Slovenians). The results show three clusters: a) the Aromuns from Albania (Andon Poci) and Macedonia (Stip region), b) the Romanian Aromuns (Kogalniceanu), Romanians (Constanta, Ploiesti) and Albanians (Tirana) und c) the data from literature. A sample of Northeastern Greece clearly differs from these three clusters. Including seven serum protein polymorphisms (without the populations from literature) results in two clusters: a) the three Aromun populations and b) Albanians and Romanians. Again the sample of Northeastern Greece clearly differs from these clusters.     

Genetic studies in south Balkan populations

Within a study of the genetics of Balkan populations, four DNA-STR systems and 19 classical markers were examined in seven samples: Romanians (two groups), Albanians, Greeks and Aromuns (three groups). The results for the DNA-STR systems have been compared with data from the literature. The results show four clear separated groups: sub-Saharan black populations, North-African, Japanese and European populations. The large Balkan populations, except the Greek sample, are genetically more homogenous than the Aromun populations. A second Neighbor-joining tree based on all 23 analyzed systems, show a particular trend of the Aromun groups, which indicates a particular genetic structure.     

Dermatoglyphic studies in eastern and south-eastern Europe

In nine population samples from Bulgaria, Croatia, Greece, Hungary, Republic of Macedonia (Skopje and Aromuns from Stip region), Romania, Serbia and Slovakia 12 dermatoglyphic variables have been studied. There are distinct differences between the populations and between males and females. The Macedonian Aromuns are clearly separated from the other populations.     

Population genetic studies in the Balkans. I. Serum proteins

Within a study of the genetics of Southeastern European populations seven serum protein polymorphisms (AMY2, BF, C3, CP, GC, HPA, TF) were examined in three samples of Aromuns (Albania: the village of Andon Poci, province Gjirocaster, Republic of Macedonia: Stip region, Romania: the village Kogalniceanu, province Dobruja) and four reference samples (Albanians: Tirana, Romanians: Constanta and Ploiesti as well as Greeks (Northeastern Greece)). The Aromun samples from Albania and Romania form one separate cluster and the reference samples together with the Aromuns from Macedonia (Stip region) form a second one.     

Allele frequencies of D21S11, FGA, TH01, and VWA in populations of the Balkans

This study is part of an extensive investigation of the genetic relationship between Balkan populations, especially the Aromuns. Allele frequencies of four STRs (D21S11, FGA, TH01, VWA) from Macedonians (Skopje), Gramostian Aromuns from the Stip region (Macedonia), Moskopolian Aromuns from Krusevo (Macedonia), and Musequiar Aromuns from Dukasi (Albania) are presented.     

Phenotype and allele frequencies of some serum protein polymorphisms in populations of the Balkans

Within a study of the genetics of Southeastern European populations seven serum protein polymorphisms (AMY2, BF, C3, CP, GC, HPA, TF) were examined in two samples of Aromuns and one reference sample (Musequiar-Aromuns from Dukasi in Albania, Moskopolian-Aromuns from Krusevo, Republic of Macedonia, and Macedonians from Skopje). The neighbor joining tree as well as the principal component analysis show results which do not correspond well to the geographic and historic background. This indicates that in the present case the serum protein polymorphisms give no clearly defined information about the relationships between the Balkan populations and to the origin of Aromuns.     

DNA-PCR systems TH01 and VWA31: population data from Albania and Romania

The microsatellite systems TH01 and VWA31 have been typed and analyzed for three populations from Albania (city population of Tirana, and Aromuns from a small-sized village, named Andon Poci, near Gjirokaster) and Romania (city population of Constanta). The genetic data have been compared with other, particularly South-Eastern European population.     

A classification of European skulls from three time periods

We analyze the taxonomic structure of European populations at three time periods, the Early Middle Ages, the Late Middle Ages and the Recent Period. The data consist of sample means for 10 cranial variables based on 137, 108, and 183 samples for the three periods. Clustering by standard numerical taxonomic procedures reveals that the data are represented only poorly as hierarchic classifications. The clusters form significant and moderately strong associations with an arrangement of the samples by regions (geography) and by language family. Whereas during the early period, language family showed a stronger association with clusters based on cranial morphology, in the recent populations these clusters correspond better with geography than with language. Ordinations of these populations by means of nonmetric multidimensional scaling shows the continuity of the taxonomic structure at all three periods. Only a few populations are outliers. The relations between phenetic distances (cranial morphology), geography, and language are examined by means of multiple Mantel tests. At all three periods geography is correlated somewhat more strongly with phenetics than is language affiliation, but the correlation with the latter increases with time. When the data are pooled over the three periods, the populations tend to group by language affiliation more than they do by period. Ordination of the pooled data reveals language patterns rather than patterns due to period, showing strong shifts in cranial measurements through time. These analyses show that while there is no clear-cut taxonomic structure in European populations that would justify the traditional classifications based on the crania, there are significant and important associations with both language affiliation, geography, and time period, in this order. These patterns are likely to have become established through the migration and subsequent expansion of populations into their areas of occupation during the time interval studied rather than by geographic differentiation in situ.     

Population genetic structure of peninsular Malaysia Malay sub-ethnic groups

Patterns of modern human population structure are helpful in understanding the history of human migration and admixture. We conducted a study on genetic structure of the Malay population in Malaysia, using 54,794 genome-wide single nucleotide polymorphism genotype data generated in four Malay sub-ethnic groups in peninsular Malaysia (Melayu Kelantan, Melayu Minang, Melayu Jawa and Melayu Bugis). To the best of our knowledge this is the first study conducted on these four Malay sub-ethnic groups and the analysis of genotype data of these four groups were compiled together with 11 other populations' genotype data from Indonesia, China, India, Africa and indigenous populations in Peninsular Malaysia obtained from the Pan-Asian SNP database. The phylogeny of populations showed that all of the four Malay sub-ethnic groups are separated into at least three different clusters. The Melayu Jawa, Melayu Bugis and Melayu Minang have a very close genetic relationship with Indonesian populations indicating a common ancestral history, while the Melayu Kelantan formed a distinct group on the tree indicating that they are genetically different from the other Malay sub-ethnic groups. We have detected genetic structuring among the Malay populations and this could possibly be accounted for by their different historical origins. Our results provide information of the genetic differentiation between these populations and a valuable insight into the origins of the Malay sub-ethnic groups in Peninsular Malaysia.     

Genetic and phenotypic divergence in an island bird: isolation by distance,by colonization or by adaptation?

Discerning the relative roles of adaptive and nonadaptive processes in generating differences among populations and species, as well as how these processes interact, is a fundamental aim in biology. Both genetic and phenotypic divergence across populations can be the product of limited dispersal and gradual genetic drift across populations (isolation by distance), of colonization history and founder effects (isolation by colonization) or of adaptation to different environments preventing migration between populations (isolation by adaptation). Here, we attempt to differentiate between these processes using island populations of Berthelot's pipit (Anthus berthelotii), a passerine bird endemic to three Atlantic archipelagos. Using microsatellite markers and approximate Bayesian computation, we reveal that the northward colonization of this species ca. 8500 years ago resulted in genetic bottlenecks in the colonized archipelagos. We then show that high levels of genetic structure exist across archipelagos and that these are consistent with a pattern of isolation by colonization, but not with isolation by distance or adaptation. Finally, we show that substantial morphological divergence also exists and that this is strongly concordant with patterns of genetic structure and bottleneck history, but not with environmental differences or geographic distance. Overall, our data suggest that founder effects are responsible for both genetic and phenotypic changes across archipelagos. Our findings provide a rare example of how founder effects can persist over evolutionary timescales and suggest that they may play an important role in the early stages of speciation.     

Phylogeography of the white-clawed crayfish (Austropotamobius italicus) in Spain: inferences from microsatellite markers

The white-clawed crayfish (Austropotamobius italicus), a cornerstone of Spain’s aquatic ecosystems, was once widely distributed throughout much of the country. Unfortunately, its populations have suffered very strong declines over the last 40 years due to the spread of introduced species (red swamp and signal crayfishes), diseases, habitat loss and other anthropogenic impacts. The present work examines the genetic variation in 23 Spanish and four Italian populations of white-clawed crayfish via the analysis of microsatellite loci. The data show genetic variation in the Spanish populations to be affected by drastic and successive bottlenecks. Notwithstanding, the diversity of these Spanish populations in terms of observed heterozygosity is similar to or even higher than that recorded for other European populations studied using these same markers. North-central Spanish populations are clearly differentiated from the country’s remaining populations; they should be considered distinct management units. Processes occurred in historical and recent times, such as genetic drift and translocations, contribute greatly to this genetic structure. These data provide useful information for conservation of this species, since the preservation of its population structure and genetic variability should be goals for management decisions.     

Variation in clone structure of fragmenting coral reef sponges

Populations of three branching Caribbean demosponge species are composed of clones produced by asexual fragmentation. Dispersal of the fragments before they become established as independent individuals scatters clone members widely and intermixes members of different clones, complicating study of the clone structure of these populations and contrasting with many other sessile clonal organisms. Clone structures of these populations were inferred using a combination of tissue-compatibility relationships and an analysis of variations in morphology and colour. Although tissue compatibility cannot be used for precise identification of sponge clones, in general, patterns of variation in morphological characters influencing fragmentation and patterns of fragment dispersal and recruitment suggest that, in these populations, tissue-compatibility relationships closely reflect clone structure. Conditions that must be met in order to use tissue compatibility for study of sponge clones are discussed, and previous results, from which conflicting conclusions have been drawn, reconciled in this context. Variations among clones in numbers of physiologically independent members and in size and shape of areal extent are discussed in the context of processes that may affect evolution of clonal characters in these populations and in other species that propagate by dispersing asexual fragments.     

Conservation genetics and population history of the threatened European mink Mustela lutreola, with an emphasis on the west European population

In species of great conservation concern, special attention must be paid to their phylogeography, in particular the origin of animals for captive breeding and reintroduction. The endangered European mink lives now in at least three well-separated populations in northeast, southeast and west Europe. Our aim is to assess the genetic structure of these populations to identify 'distinct population segments' (DPS) and advise captive breeding programmes. First, the mtDNA control region was completely sequenced in 176 minks and 10 polecats. The analysis revealed that the western population is characterized by a single mtDNA haplotype that is closely related to those in eastern regions but nevertheless, not found there to date. The northeast European animals are much more variable (pi = 0.012, h = 0.939), with the southeast samples intermediate (pi = 0.0012, h = 0.469). Second, 155 European mink were genotyped using six microsatellites. The latter display the same trends of genetic diversity among regions as mtDNA [gene diversity and allelic richness highest in northeast Europe (H(E) = 0.539, R(S) = 3.76), lowest in west Europe (H(E) = 0.379, R(S) = 2.12)], and provide evidences that the southeast and possibly the west populations have undergone a recent bottleneck. Our results indicate that the western population derives from a few animals which recently colonized this region, possibly after a human introduction. Microsatellite data also reveal that isolation by distance occurs in the western population, causing some inbreeding because related individuals mate. As genetic data indicate that the three populations have not undergone independent evolutionary histories for long (no phylogeographical structure), they should not be considered as distinct DPS. In conclusion, the captive breeding programme should use animals from different parts of the species' present distribution area.     

Bayesian models for the analysis of genetic structure when populations are correlated

MOTIVATION: Population allele frequencies are correlated when populations have a shared history or when they exchange genes. Unfortunately, most models for allele frequency and inference about population structure ignore this correlation. Recent analytical results show that among populations, correlations can be very high, which could affect estimates of population genetic structure. In this study, we propose a mixture beta model to characterize the allele frequency distribution among populations. This formulation incorporates the correlation among populations as well as extending the model to data with different clusters of populations. RESULTS: Using simulated data, we show that in general, the mixture model provides a good approximation of the among-population allele frequency distribution and a good estimate of correlation among populations. Results from fitting the mixture model to a dataset of genotypes at 377 autosomal microsatellite loci from human populations indicate high correlation among populations, which may not be appropriate to neglect. Traditional measures of population structure tend to overestimate the amount of genetic differentiation when correlation is neglected. Inference is performed in a Bayesian framework. CONTACT: fur@ohsu.edu.     

Genetic and morphological variation of Rhizophora mangle (red mangrove) along the northern Pacific coast of Nicaragua

Red mangrove (Rhizophora mangle) dominates in tidally active areas of neotropical mangrove forests. Despite the ecological and economic importance of this species, we still know little about the genetic structure and diversity of its natural populations. In particular, Nicaraguan populations have not yet been investigated although they could be important for a better understanding of the evolutionary history of R. mangle in Mesoamerica. The aim of this study was to estimate the genetic and morphological variability of 4 populations sampled along the northwestern coast of Nicaragua. Microsatellite analysis showed higher levels of allelic diversity (30 alleles and a mean number of allele per locus per population = 6.42) than reported for the same species in other sites of tropical America. This variability could be attributed to the existence of a glacial refugium in the studied area and/or to repeated introgression among closely related species. Analysis of molecular variance (AMOVA) revealed that there was little but significant variation among the sampled sites suggesting that the studied populations cannot be considered as a single panmictic group, although they are closely related. This result was confirmed by the Bayesian analysis and UPGMA dendrogram showing three genetically distinct clusters. Bayesian analysis of migration rates showed that propagule dispersion associated with marine currents is an important factor shaping the observed genetic structure. The scatterplot from discriminant analysis indicated significant phenotypic differences between two groups, mainly related to specific leaf area variation. The morphological similarity between PR and PO was consistent with the results of molecular analysis, supporting the common origin of these two populations. Nevertheless, we did not find a significant statistical correlation between microsatellite and morphological data. In conclusion, the results reported here contribute to a better understanding of R. mangle genetic structure and would provide baseline information to guide land managers in implementing conservation initiatives in Nicaragua.     

Selective sweeps and intercontinental migration in the cosmopolitan moss Ceratodon purpureus (Hedw.) Brid

The moss Ceratodon purpureus has long been used as a model system in plant development and physiology. However, the molecular population genetics of the species remains virtually unexplored. In this study, we used population genetic analyses of DNA sequence data from three unlinked loci (atpB-rbcL spacer, adk, and phy2) to examine biogeographical patterns in a global sample of this species. The three loci differed significantly in mutation frequency spectra and implied population structure. Pairs of haplotypes from single populations were frequently more divergent than haplotypes sampled from widely disjunct populations. In the atpB-rbcL spacer and adk samples, Australasian haplotypes were more closely related to Northern Hemisphere haplotypes than to haplotypes found in the equatorial regions. In contrast, the phy2 sample showed that the north and south temperate regions were genetically divergent, with the equatorial regions intermediate. Maximum-likelihood estimates (MLE) of the rates of migration between the two hemispheres were significantly different for the two nuclear genes. The frequency spectra of mutations indicated that differences in implied population structure among the three loci resulted from directional selection on the chloroplast genome and on the chromosomal segment containing adk. Collectively, these data suggest that long-distance migration within the Northern Hemisphere and Australasian regions is common (relative to the mutation rate) and that migration between these two regions, potentially via equatorial populations, is more frequent than migration among equatorial populations.     

Human Neutral Genetic Variation and Forensic STR Data

The forensic genetics field is generating extensive population data on polymorphism of short tandem repeats (STR) markers in globally distributed samples. In this study we explored and quantified the informative power of these datasets to address issues related to human evolution and diversity, by using two online resources: an allele frequency dataset representing 141 populations summing up to almost 26 thousand individuals; a genotype dataset consisting of 42 populations and more than 11 thousand individuals. We show that the genetic relationships between populations based on forensic STRs are best explained by geography, as observed when analysing other worldwide datasets generated specifically to study human diversity. However, the global level of genetic differentiation between populations (as measured by a fixation index) is about half the value estimated with those other datasets, which contain a much higher number of markers but much less individuals. We suggest that the main factor explaining this difference is an ascertainment bias in forensics data resulting from the choice of markers for individual identification. We show that this choice results in average low variance of heterozygosity across world regions, and hence in low differentiation among populations. Thus, the forensic genetic markers currently produced for the purpose of individual assignment and identification allow the detection of the patterns of neutral genetic structure that characterize the human population but they do underestimate the levels of this genetic structure compared to the datasets of STRs (or other kinds of markers) generated specifically to study the diversity of human populations.     

Domestication and the distribution of genetic variation in wild and cultivated populations of the Mesoamerican fruit tree Spondias purpurea L. (Anacardiaceae)

Domestication occurs as humans select and cultivate wild plants in agricultural habitats. The amount and structure of variation in contemporary cultivated populations has been shaped, in part, by how genetic material was transferred from one cultivated generation to the next. In some cultivated tree species, domestication involved a shift from sexually reproducing wild populations to vegetatively propagated cultivated populations; however, little is known about how domestication has impacted variation in these species. We employed AFLP data to explore the amount, structure, and distribution of variation in clonally propagated domesticated populations and sexually reproducing wild populations of the Neotropical fruit tree, Spondias purpurea (Anacardiaceae). Cultivated populations from three different agricultural habitats were included: living fences, backyards, and orchards. AFLP data were analysed using measures of genetic diversity (% polymorphic loci, Shannon's diversity index, Nei's gene diversity, panmictic heterozygosity), population structure (F(ST) analogues), and principal components analyses. Levels of genetic variation in cultivated S. purpurea populations are significantly less than variation found in wild populations, although the amount of diversity varies in different agricultural habitats. Cultivated populations have a greater proportion of their genetic variability distributed among populations than wild populations. The genetic structure of backyard populations resembles that of wild populations, but living fence and orchard populations have 1/3 more variability distributed among populations, most likely a reflection of relative levels of vegetative reproduction. Finally, these results suggest that S. purpurea was domesticated in two distinct regions within Mesoamerica.     

Population genetics of Mioscirtus wagneri,a grasshopper showing a highly fragmented distribution

The genetic consequences of population fragmentation and isolation are major issues in conservation biology. In this study we analyse the genetic variability and structure of the Iberian populations of Mioscirtus wagneri, a specialized grasshopper exclusively inhabiting highly fragmented hypersaline low grounds. For this purpose we have used seven species‐specific microsatellite markers to type 478 individuals from 24 localities and obtain accurate estimates of their genetic variability. Genetic diversity was relatively low and we detected genetic signatures suggesting that certain populations of M. wagneri have probably passed through severe demographic bottlenecks. We have found that the populations of this grasshopper show a strong genetic structure even at small geographical scales, indicating that they mostly behave as isolated populations with low levels of gene flow among them. Thus, several populations can be regarded as independent and genetically differentiated units which require adequate conservation strategies to avoid eventual extinctions that in highly isolated localities are not likely to be compensated for with the arrival of immigrants from neighbouring populations. Overall, our results show that these populations probably represent the ‘fragments’ of a formerly more widespread population and highlight the importance of protecting Iberian hypersaline environments due to the high number of rare and endangered species they sustain.