Population genetics of the people of Iran II. Genetic differentiation and population structure

The genetic structure of six populations of Iran (Turks, Kurds, Lurs, Zabolis, Baluchis and Zoroastrians) was examined using data on blood groups, serum proteins and cell enzymes. Our results show conclusively that there are genetic differences among the six populations and the analysis of superimposed R and S matrices defined Harpending & Jenkins (1973) show by that the dispersion of some of the alleles correspond to the dispersion of the populations. The F_ST estimates are not large enough to favour selection on any of the loci studied. The F_IT and F_IS estimates are positive and moderately high suggesting that the genetic differentiation to some extent is influenced by inbreeding.     

Genetic differentiation between collections of hatchery and wild masu salmon (<Emphasis Type="Italic">Oncorhynchus masou</Emphasis>) inferred from mitochondrial and microsatellite DNA analyses

There has been very little effort to understand genetic divergence between wild and hatchery populations of masu salmon (Oncorhynchus masou). In this study, we used mitochondrial (mt) NADH dehydrogenase subunit 5 gene (ND5) and six polymorphic nuclear microsatellite DNA loci to compare the genetic variability in three hatchery broodstocks of masu salmon with the variability in eight putative wild masu populations sampled in five rivers including one known source river for the hatchery broodstocks. Both ND5 and microsatellites showed no significant genetic divergence (based on F_ST estimates) between four annual collections from the source river population, suggesting no change in genetic diversity over this time period. The F_ST estimates, an analysis of molecular variance (AMOVA), and a neighbor-joining tree using both DNA markers suggested significant differentiation between the three hatchery and all eight putative wild populations. We conclude that genetic diversity of hatchery populations are low relative to putative wild populations of masu salmon, and we discuss the implications for conservation and fisheries management in Hokkaido.     

Population genetics of Drosophila ananassae: inversion polymorphism and body size in Indian geographical populations

Twelve Indian natural populations of Drosophila ananassae, a cosmopolitan and domestic species, were sampled and laboratory populations (mass cultures) were established from naturally impregnated females. These populations were maintained in the laboratory for some generations and were analysed chromosomally to know the frequency of different inversions. The chromosomal analysis revealed the presence of three cosmopolitan inversions. The data on the whole show that there are significant differences in the frequencies of different chromosome arrangements in these populations. Body size (wing length and thorax length) was measured in both sexes (50 females and 50 males), in all the 12 geographical populations of D. ananassae. There are statistically significant differences in wing length as well as in thorax length of both sexes among different geographical populations. Five geographical strains were crossed reciprocally and body size (wing length and thorax length) was measured in F₁ and F₂ progeny. The comparison of body size (both traits) between mid‐parent, F₁ and F₂ shows that there is an increase in body size in F₁ and F₂ progeny as compared with parents. Thus, there is no break down of heterosis in F₂, which suggests absence of coadaptation in geographical populations of D. ananassae. Scaling test statistical analysis showed additive, dominance and epistatic effects in certain crosses involving geographical strains of D. ananassae. Correlation between chromosome arrangement frequency and body size has also been tested and significant negative correlation has been found between 2L – ST chromosome arrangement and male thorax.     

Spatial genetic structure of a tropical understory shrub,PSYCHOTRIA OFFICINALIS (RuBIACEAE)

Analyses of fine-scale and macrogeographic genetic structure in plant populations provide an initial indication of how gene flow, natural selection, and genetic drift may collectively influence the distribution of genetic variation. The objective of our study is to evaluate the spatial dispersion of alleles within and among subpopulations of a tropical shrub, Psychotria officinalis (Rubiaceae), in a lowland wet forest in Costa Rica. This insect-pollinated, self-incompatible understory plant is dispersed primarily by birds, some species of which drop the seeds immediately while others transport seeds away from the parent plant. Thus, pollination should promote gene flow while at least one type of seed dispersal agent might restrict gene flow. Sampling from five subpopulations in undisturbed wet forest at Estación Biologíca La Selva, Costa Rica, we used electrophoretically detected isozyme markers to examine the spatial scale of genetic structure. Our goals are: 1) describe genetic diversity of each of the five subpopulations of Psychotria officinalis sampled within a contiguous wet tropical forest; 2) evaluate fine-scale genetic structure of adults of P. officinalis within a single 2.25-ha mapped plot; and 3) estimate genetic structure of P. officinalis using data from five subpopulations located up to 2 km apart. Using estimates of coancestry, statistical analyses reveal significant positive genetic correlations between individuals on a scale of 5 m but no significant genetic relatedness beyond that interplant distance within the studied subpopulation. Multilocus estimates of genetic differentiation among subpopulations were low, but significant (F_st = 0.095). Significant F_st estimates were largely attributable to a single locus (Lap-2). Thus, multilocus estimates of F_st may be influenced by microgeographic selection. If true, then the observed levels of IBD may be overestimates.     

Characterizing genetic integrity of rear-edge trout populations in the southern Appalachians

Vertebrate populations at the periphery of their range can show pronounced genetic drift and isolation, and therefore offer unique challenges for conservation and management. These populations are often candidates for management actions such as translocations that are designed to improve demographic and genetic integrity. This is particularly true of coldwater species like brook trout (Salvelinus fontinalis), whose numbers have declined greatly across its historic range. At the southern margin, remnant wild populations persist in isolated headwater streams, and many have a history of receiving translocated individuals through either stocking of hatchery reared fish, relocation of wild fish, or both during restoration attempts. To determine current genetic integrity and resolve the genetic effects of past management actions for brook trout populations in SC, USA, we genetically assessed all 18 documented remaining brook trout populations along with individuals acquired from six hatcheries with recorded stocking events in SC. Our results indicated that six of the 18 streams showed signs of hatchery admixture (range 57–97%) and restored patches retained genetic signatures from multiple source populations. Populations had among the lowest genetic diversity (min average H_E?=?0.147) and effective number of breeders (mean N_b?=?31.2) estimates observed throughout the native brook trout range. Populations were highly differentiated (mean pair-wise F_ST?=?0.396), and substantial genetic divergence was evident across major river drainages (max pair-wise F_ST?=?0.773). The lowest local genetic diversity and highest genetic differentiation ever reported for this species make its conservation a challenging task, particularly when combined with other threats such as climate change and non-native species. We offer recommendations on managing peripheral populations with depleted genetic characteristics and provide a reference for determining which existing populations will best serve as sources for future translocation efforts aimed at enhancing or restoring wild brook trout genetic integrity.     

Estimates of Genetic Differentiation Measured by F(ST) Do Not Necessarily Require Large Sample Sizes When Using Many SNP Markers

Population genetic studies provide insights into the evolutionary processes that influence the distribution of sequence variants within and among wild populations. F_ST is among the most widely used measures for genetic differentiation and plays a central role in ecological and evolutionary genetic studies. It is commonly thought that large sample sizes are required in order to precisely infer F_ST and that small sample sizes lead to overestimation of genetic differentiation. Until recently, studies in ecological model organisms incorporated a limited number of genetic markers, but since the emergence of next generation sequencing, the panel size of genetic markers available even in non-reference organisms has rapidly increased. In this study we examine whether a large number of genetic markers can substitute for small sample sizes when estimating F_ST. We tested the behavior of three different estimators that infer F_ST and that are commonly used in population genetic studies. By simulating populations, we assessed the effects of sample size and the number of markers on the various estimates of genetic differentiation. Furthermore, we tested the effect of ascertainment bias on these estimates. We show that the population sample size can be significantly reduced (as small as n = 4–6) when using an appropriate estimator and a large number of bi-allelic genetic markers (k>1,000). Therefore, conservation genetic studies can now obtain almost the same statistical power as studies performed on model organisms using markers developed with next-generation sequencing.     

Estimation and adjustment of microsatellite null alleles in nonequilibrium populations

Nonamplified (null) alleles are a common feature of microsatellite genotyping and can bias estimates of allele and genotype frequencies, thereby hindering population genetic analyses. The frequency of microsatellite null alleles in diploid populations can be estimated for populations that are in Hardy–Weinberg equilibrium. However, many microsatellite data sets are from nonequilibrium populations, often with known inbreeding coefficients (F) or fixation indices (F_IS or F_ST). Here, we propose a novel null allele estimator that can be used to estimate the null allele frequency and adjust visible allele frequencies in populations for which independent estimates of F, F_IS or F_ST are available. The algorithm is currently available as an Excel macro that can be downloaded at no cost from http://www.microchecker.hull.ac.uk/ and will be incorporated into the software micro ‐checker .     

Estimates of population differentiation in pink salmon Oncorhynchus gorbuscha with using of the microsatellite markers may be underestimated due to high population sizes

Data on the variation at eight microsatellite loci in the Far East salmon Oncorhynchus gorbuscha samples caught in 1984–1985 and 2001–2006 are analyzed. F-statistics indices at all levels of the hierarchical spatial structures are very small. At the same time, the differentiation between populations (according to F _ST estimates) in the odd-year broodline of pink salmon does not exceed the temporal variation within populations. In the even-year broodline, the F-statistics indices at the interregional and intraregional levels are significantly greater than those in the odd-year broodline. F _ST estimates (averaged over the same set of loci) vary widely within the range: the highest values are observed in populations of the coast of North America (except Alaska) and in the new range in the European North of Russia, whereas in the populations of the Asian part of the range and Alaska they are one order of magnitude smaller. The causes of the heterogeneity of the estimates of genetic differentiation within the range and between the broodlines of odd and even years are discussed. Since the mean population size estimates were correlated with the F _ST values, it was assumed that the effect of random genetic drift, the main factor of population divergence in selectively neutral loci, weakens with an increase in the population size. Because of the greater population sizes in pink salmon compared to other salmon species, as well due to the uneven distribution of populations of different size, the usage of microsatellite markers may lead to an underestimation of the true divergence of populations and their regional groups and, consequently, to an overestimation of genetic migration.     

Genetic variation in island populations of tuatara (<Emphasis Type="Italic">Sphenodon</Emphasis> spp) inferred from microsatellite markers

Tuatara (Sphenodon spp) populations are restricted to 35 offshore islands in the Hauraki Gulf, Bay of Plenty and Cook Strait of New Zealand. Low levels of genetic variation have previously been revealed by allozyme and mtDNA analyses. In this new study, we show that six polymorphic microsatellite loci display high levels of genetic variation in 14 populations across the geographic range of tuatara. These populations are characterised by disjunct allele frequency spectra with high numbers of private alleles. High F _ST (0.26) values indicate marked population structure and assignment tests allocate 96% of all individuals to their source populations. These genetic data confirm that islands support genetically distinct populations. Principal component analysis and allelic sequence data supplied information about genetic relationships between populations. Low numbers of rare alleles and low allelic richness identified populations with reduced genetic diversity. Little Barrier Island has very low numbers of old tuatara which have retained some relictual diversity. North Brother Island’s tuatara population is inbred with fixed alleles at 5 of the 6 loci.     

Microsatellite markers reveal spatial genetic structure of Tetranychus urticae (Acari: Tetranychidae) populations along a latitudinal gradient in Europe

The genetic structure of populations of the two-spotted spider mite Tetranychus urticae was investigated along a south–north European transect spanning from southern France to The Netherlands. Mites were collected on Urtica dioica in 6 sampling zones. Microsatellite variation at 5 loci revealed considerable genetic variation with an average heterozygozity of 0.49. Significant heterozygote deficiency was found in 7 populations out of the 18 samples analyzed and one of them was completely monomorphic. Tetranychus urticae populations show some level of genetic structuring. First, genetic differentiation between localities (F _ST estimates) was significant for all comparisons. Second, the analysis of molecular variance, AMOVA, indicates that there is an effect, albeit low (9%), of the locality in accounting for allele frequency variance. Geographic distance emerges as a factor responsible for this genetic structure. The results are discussed in relation to the biological features of the species and the known patterns of migration. Related agronomical issues are addressed.     

REDUCED GENETIC DIVERSITY AND INCREASED POPULATION DIFFERENTIATION IN PERIPHERAL AND OVERHARVESTED POPULATIONS OF GIGARTINA SKOTTSBERGII (RHODOPHYTA,GIGARTINALES) IN SOUTHERN CHILE1

This study assesses two hypotheses on the genetic diversity of populations of Gigartina skottsbergii Setchell et Gardner (Rhodophyta, Gigartinales) at the border of the species distribution: 1) peripheral populations display a reduced genetic diversity compared with central populations, and 2) genetic differentiation is higher among peripheral than among central populations. Two peripheral and four central populations were sampled along the Chilean coast and 113 haploid individuals were analyzed using 17 random amplification of polymorphic DNA loci. The genetic diversity was estimated by allele diversity (H_e), allele richness (Â), and the mean pair‐wise differences among multilocus genotypes. All three estimates consistently and significantly indicated a lower genetic diversity within the peripheral than within the central populations. Genetic differentiation between the two peripheral populations was stronger (F_ST=0.35) than between central populations at similar spatial scales (F_ST ranging from 0 to 0.25). In addition, it appeared from the distribution of pair‐wise differences that peripheral populations are in demographic expansion after a recent bottleneck. The results are discussed in the specific context of potential overharvesting of these wild populations.     

POPULATION STRUCTURE AND LEVELS OF GENE FLOW IN THE MEDITERRANEAN LAND SNAIL ALBINARIA CORRUGATA (PULMONATA: CLAUSILIIDAE)

The amount of gene flow among local populations partly determines the relative importance of genetic drift and natural selection in the differentiation of such populations. Land snails, because of their limited powers for dispersal, may be particularly likely to show such differentiation. In this study, we directly estimate gene flow in Albinaria corrugata, a sedentary, rock-dwelling gastropod from Crete, by mark-recapture studies. In the same area, 23 samples were taken and studied electrophoretically for six polymorphic enzyme loci. The field studies indicate that the population structure corresponds closely to the stepping-stone model: demes are present on limestone boulders that are a few meters apart, and dispersal takes place mainly between adjacent demes. Average deme size (N) is estimated at 29 breeding individuals and the proportion of migrants per generation at 0.195 (Nm = 5.7). We find no reason to assume long-distance dispersal, apart from dispersal along occasional stretches of suitable habitat. Genetic subdivision of the population, as derived from F_ST values, corresponds to the direct estimate only at the lowest spatial level (distance between sample sites < 10 m), where values for Nm of 5.4 and 17.6 were obtained. In contrast, at the larger spatial scales, F_ST values give gene-flow estimates that are incompatible with the expected amount of gene flow at these scales. We explain these discrepancies by arguing that gene flow is in fact extremely limited, making correct estimates of Nm from F_ST impossible at the larger spatial scales. In view of these low levels of gene flow, it is concluded that both genetic drift and natural selection may play important roles in the genetic differentiation of this species, even at the lowest spatial scales.     

Population structure and pattern of geographic variation in Muscari comosum along its range of distribution

Genetic variation for six loci in 37 populations of Muscari comosum L. (Liliaeeae) is surveyed. One locus is monomorphic and identical in all the populations. The remaining loci are polymorphic. Although the GOT-1 and GOT-3 loci show a pronounced heterozygote deficit explained by selection acting upon these loci (or on genes linked to them), the remaining loci nearly conform to Hardy-Weinberg proportions. The overall pattern shows a low level of heterozygote deficit (F_IS=0.08) explained by the mixed mating system. The organization of genetic variation shows a low level of interpopulation differentiation (F_ST or G_ST=0.04). At the same time, autocorrelation analysis shows no pattern of geographical variation. It is concluded that gene flow and selection interact to produce the overall pattern of genetic variation.     

POPULATION GENETIC STRUCTURE OF CECROPIA OBTUSIFOLIA,A TROPICAL PIONEER TREE SPECIES

Theoretical analyses of the genetic organization of pioneer species have postulated two very different scenarios. Some models have predicted that such species would show strong population substructuring, whereas other models have suggested that extinction and recolonization can augment gene flow and reduce interpopulation differentiation. We tested these alternative scenarios by analyzing the genetic structure of eight loci from populations of the pioneer dioecious tree, Cecropia obtusifolia, in the tropical rain forest region of Los Tuxtlas, México. The populations studied exhibit low overall F_ST values, no clear pattern of isolation by distance, and high estimates of gene flow. These results suggest either that the species is not at a genetic equilibrium under present levels of gene flow with populations derived from each other in the recent past, or that pollen and seed dispersal in this species occur over long distances (up to more than 100 km). Mating among relatives appears higher than expected by chance based on significantly positive fixation indices (F) and F_IS values at some loci. However, no direct evidence for biparental inbreeding was found. The multilocus and single-locus outcrossing rates for C. obtusifolia were estimated at t_m = 0.974 (SE = 0.024) and t_s = 0.980 (SE = 0.035), respectively. These are not significantly different from 1, and the difference, t_m — t_s = — 0.006 (SE = 0.018), is not significantly different from 0. These estimates, however, could be biased because in all enzymes, except PGM-1, we found statistically significant departures from the mixed-mating model used to estimate them. Two rare alleles were found only in seeds collected from the soil, and the greatest number of different alleles were found also in soil seeds. It is hypothesized that the seed bank may play an important role in the genetic buffering of C. obtusifolia. Significantly positive or negative fixation indices in adults at some loci and significantly different heterozygosities among different life stages (from seeds to adults) suggest the action of selection at some loci.     

High gene flow between populations of Macrotermes michaelseni (Isoptera, Termitidae)

Termite alates are thought to be poor active flyers, and this should lead to considerable genetic differentiation on small spatial scales. However, using four microsatellite loci for the termite Macrotermes michaelseni we found low values of genetic differentiation (F_ST) across a spatial scale of even more than 50 km. Genetic differentiation between populations increased with spatial distance up to 50 km. Furthermore, up to this distance, the scatter around the linear regression of genetic differentiation versus spatial distance increased with spatial distance. This suggests that across such spatial distances gene flow and genetic drift are of about equal importance, and near equilibrium. Using a regional F_ST as well as the distance between populations with non-significant F_ST-values (up to 25 km), gene flow is sufficiently high so that populations may be regarded as panmictic on spatial scales of 25 to 50 km. The apparent contradiction between dispersal distances observed in the field and estimates of gene flow from genetic markers may be due to the masses of swarming alates. Assuming a leptokurtic distribution of dispersal distances, atleast some alates are expected to travel considerable distances, most likely by passive drift. Received 25 January 2005; revised 11 April 2005; accepted 26 April 2005.     

Genetic diversity and population structure of the roughskin sculpin (<Emphasis Type="Italic">Trachidermus fasciatus</Emphasis> Heckel) inferred from microsatellite analyses: implications for its conservation and management

Identification of population units is crucial for management and monitoring programs, especially for endangered wild species. The roughskin sculpin (Trachidermus fasciatus Heckel) is a small catadromous fish and has been listed as a second class state protected aquatic animal since 1988 in China. To achieve sustainable conservation of this species, it is necessary to clarify the existing genetic structure both between and within populations. Here, population genetic structure among eight populations of T. fasciatus were analyzed by using 16 highly polymorphic microsatellites. High levels of genetic variation were observed in all populations. All pairwise F _ST estimates were significant after false discovery rate correction (overall average F _ST = 0.054). Furthermore, both STRUCTURE and discriminant analysis of principal components (DAPC) analysis showed that the eight populations were grouped into six clusters. BAYESASS analysis showed generally low recent and asymmetric migration among populations. All these results suggested significant genetic structure across populations. However, there was no isolation by distance relationship among populations, likely resulting from barriers to gene flow created by habitat fragmentation. Our results highlight the need for in situ conservation efforts for T. fasciatus across its entire distribution range, through maximizing habitat size and quality to preserve overall genetic diversity and evolutionary potential.     

Craniometric variation among modern human populations

Previous studies of genetic markers and mitochondrial DNA have found that the amount of variation among major geographic groupings of Homo sapiens is relatively low, accounting for roughly 10% of total variation. This conclusion has had implications for the study of human variation and consideration of alternative models for the origin of modern humans. By contrast, it has often been assumed that the level of among-group variation for morphological traits is much higher. This study examines the level of among-group variation based on Craniometric data from a large sample of modern humans originally collected by W. W. Howells. A multivariate method based on quantitative genetics theory was used to provide an estimate of F_ST — a measure of among-group variation that can be compared with results from studies of genetic markers. Data for 57 Craniometric variables on 1,734 crania were analyzed. These data represent six core areas: Europe, Sub-Saharan Africa, Australasia, Polynesia, the Americas, and the Far East. An additional set of analyses was performed using a three-region subset (Europe, Sub-Saharan Africa, and the Far East) to provide comparability with several genetic studies. The minimum F_ST (assuming complete heritability) for the three-region analysis is 0.065, and the minimum F_ST for the six-region analysis is 0.085. Both of these are less than the average F_ST from genetic studies (average estimates of 0.10–0.11). The smaller value of the minimum F_ST estimates is expected since it provides an estimate of F_ST expected under complete heritability. Using an estimate of average craniometric heritability from the literature provides an estimate of F_ST of 0.112 for the three-region analysis and 0.144 for the six-region analysis. These results show that genetic and craniometric data are in agreement, qualitatively and quantitatively, and that there is limited variation in modern humans among major geographic regions. © 1994 Wiley-Liss, Inc.     

A clever solution to a vexing problem

F_ST (as well as related measures such as G_ST) has long been used both as a measure of the relative amount of genetic variation between populations and as an indicator of the amount of gene flow among populations. Unfortunately, F_ST and its clones are also sensitive to mutation, particularly when the mutation rate per locus is greater than the migration rate among populations. Relatively high mutation rates cause estimates of F_ST and G_ST to be much lower than researchers sometimes expect, when migration rates are low in the studied species. Several recent suggestions for dealing with this problem have been unsatisfactory for one reason or another, and no general solution exists (if we are not to abandon these otherwise useful measures of differentiation). In an important article in this issue, Jinliang Wang (2015) shows that it is possible to identify whether the genetic markers in a given study are likely to give estimates of F_ST that are strongly affected by mutation. The proposed test is simple and elegant, and with it, molecular ecologists can determine whether the F_ST from their makers can be depended on for further inference about their species’ genome and the demographic forces which shaped its patterns.     

The effects of selection,drift and genetic variation on life‐history trait divergence among insular populations of natterjack toad,Bufo calamita

Although loss of genetic variation is frequently assumed to be associated with loss of adaptive potential, only few studies have examined adaptation in populations with little genetic variation. On the Swedish west coast, the northern fringe populations of the natterjack toad Bufo calamita inhabit an atypical habitat consisting of offshore rock islands. There are strong among‐population differences in the amount of neutral genetic variation, making this system suitable for studies on mechanisms of trait divergence along a gradient of within‐population genetic variation. In this study, we examined the mechanisms of population divergence using Q_ST–F_ST comparisons and correlations between quantitative and neutral genetic variation. Our results suggest drift or weak stabilizing selection across the six populations included in this study, as indicated by low Q_ST–F_ST values, lack of significant population × temperature interactions and lack of significant differences among the islands in breeding pond size. The six populations included in this study differed in both neutral and quantitative genetic variation. Also, the correlations between neutral and quantitative genetic variation tended to be positive, however, the relatively small number of populations prevents any strong conclusions based on these correlations. Contrary to the majority of Q_ST–F_ST comparisons, our results suggest drift or weak stabilizing selection across the examined populations. Furthermore, the low heritability of fitness‐related traits may limit evolutionary responses in some of the populations.     

ESTIMATES OF INTRAGAMETOPHYTIC SELFING AND INTERPOPULATIONAL GENE FLOW IN HOMOSPOROUS FERNS

Relatively little information is available on mating systems and interpopulational gene flow in species of homosporous pteridophytes. Because of the proximity of antheridia and archegonia on the same thallus, it has long been maintained that intragametophytic selling is the predominant mode of reproduction in natural populations of homosporous ferns and other homosporous plants. Furthermore, quantitative estimates of interpopulational gene flow via spore dispersal are lacking. In this paper, we examine five species of homosporous ferns (Botrychium virginianum, Polystichum munitum, P. imbricans, Blechnum spicant, and Dryopteris expansa) and present estimates of 1) rates of intragametophytic selling, 2) levels of interpopulational gene flow, and 3) interpopulational genetic differentiation (F_ST). Our data demonstrate that mating systems vary among species of ferns, just as they do among species of seed plants. The data also suggest that levels of interpopulational gene flow are generally high. The F_ST values indicate little genetic divergence among populations for all species except Dryopteris expansa, which exhibits significant levels of interpopulational genetic differentiation. Patterns of genetic diversity in the five species examined are related to the mating system and rate of interpopulational gene flow in each species. The F_ST values for all species except Botrychium virginianum are in close agreement with those predicted for an island model of population structure.