植物居群遗传变异的空间自相关分析

本文介绍了植物遗传变异空间自相关分析的理论、方法与应用,包括将基因型作为绝对型数据与等位基因频率作为连续型数据进行自相关分析的基本方法等。并对影响植物居群遗传变异空间结构的因素以及研究居群内遗传结构的重要意义作了评述。     

植物居群遗传变异的空间自相关分析

本文介绍了植物遗传变异空间自相关分析的理论、方法与应用 ,包括将基因型作为绝对型数据与等位基因频率作为连续型数据进行自相关分析的基本方法等。并对影响植物居群遗传变异空间结构的因素以及研究居群内遗传结构的重要意义作了评述     

MIGRATION AND GENETIC DRIFT IN HUMAN POPULATIONS

In humans and many other species, mortality is concentrated early in the life cycle, and is low during the ages of dispersal and reproduction. Yet precisely the opposite is assumed by classical population-genetics models of migration and genetic drift. We introduce a model in which population regulation occurs before migration. In contrast to the conventional model, our model implies that geographic variation in the allele frequencies of newborns should exceed that of adults. Thus, it is important to distinguish genetic variation of adults from that of newborns in species with human-like life cycles. Classical models deal with the variance of group allele frequencies about the allele frequency of a hypothetical “continent” or “foundation stock.” Empirical studies, however, can only measure “reduced” variance, i.e., variance about the current population mean. Our model deals with reduced variance, and should therefore be more relevant to field studies. We show that reduced variance converges faster, which implies that populations are more likely to be at equilibrium with respect to reduced than unreduced variance. To summarize the effect of migration on genetic population structure, we introduce a new parameter, the effective migration rate. Unlike most population structure statistics, it does not confound the effects of mobility and population size, and it should therefore be useful for comparisons between populations. Finally, we show that the difference between geographic variation of newborn and adult allele frequencies contains information about both effective population size and effective migration rate.     

The detection of spatial variation in widespread marine species: methods and bias in the analysis of population structure in the crown of thorns starfish (Echinodermata: Asteroidea)

The basic assumptions that widespread marine species should show little spatial variation in genetic structure, given their high potential for dispersal on ocean currents, is being questioned. This has taken some time because there are few studies of widespread marine species over oceanic scales, few data sets that have the high density of sampling required for the detection of fine population structure, and there is little incentive to look further if initial analyses suggest the expected result. The interpretation of the population genetic structure of crown-of-thorns starfish (Acanthaster planci) has been found to vary considerably depending on the sample set included in the analyses and on the method of analysis used. Scatter plots of genetic distance or , and spatial autocorrelation approaches gave markedly different results ranging from no structure to isolation by distance. Only visual examination of maps of patterns of variation in allele variation first detected that crown-of-thorns starfish occupy large regions with little between population differentiation, but between which there are markedly higher levels of differentiation. These findings highlight the care required in interpreting population structure, particularly where there are few sample points. Many marine species may have population structures where sharp genetic disjunctions, not associated with any obvious environmental boundaries, separate regions of relative genetic homogeneity. Such population structures are very different from those traditionally assumed and are not yet understood. Further advances in understanding the genetic structure of marine species will demand an iterative approach where a greater number of samples are collected over particular regions identified by earlier interpretations.     

Stability of population structure and genetic diversity across generations assessed by microsatellites among sympatric populations of landlocked Atlantic salmon (Salmo salar L.)

It may often be necessary to perform genetic analyses of temporal replicates to estimate the significance of spatial variation independently from that of temporal variation in order to ensure the reliability of estimates of a defined population structure. Nevertheless, temporal studies of genetic diversity remain scarce in the literature relative to the plethora of empirical studies of population structure. In vertebrates, a limited number of studies have specifically assessed the temporal stability of population structure for more than one generation. In this study, we performed a microsatellite analysis of DNA obtained from archived scales to compare the population structure among four sympatric landlocked populations of Atlantic salmon ( Salmo salar ) over a time frame of three to five generations. The same patterns of allele frequency distribution, θ, R _ST and genetic distance estimates were observed among populations for two time periods, confirming the temporal stability of the population structure. Despite population declines and stocking during this period, no statistically significant changes in intrapopulation genetic diversity were apparent. This study illustrates the feasibility and usefulness of microsatellite analysis of temporal samples, not only to infer changes of intrapopulation genetic diversity, but also to assess the stability of population structure over a time frame of several generations.     

Highly Connected Populations and Temporal Stability in Allelic Frequencies of a Harvested Crab from the Southern Pacific Coast

For marine invertebrates with a benthic adult form and a planktonic larva phase, the connectivity among populations is mainly based on larval dispersal. While an extended larval phase will promote gene flow, other factors such as an intensive fishery and geographical barriers could lead to changes in genetic variability. In this study, the population genetic structure of the commercial crab Metacarcinus edwardsii was analyzed along 700 km of the Chilean coast. The analysis, based on eight microsatellite loci genotyped from megalopae and adult crabs, considered temporal and spatial patterns of genetic variation. The results showed no evidence of spatial patterns in genetic structure, suggesting high connectivity among the sampling sites. The temporal analysis showed no evidence of changes in allele frequencies and no evidence of a recent bottleneck. The lack of spatial structure and allele variation over time could be explained by the interaction of factors such as i) low reproductive variance due to the capability of females to store sperm in the seminal receptacle, which can be used for successive broods, ii) high larval dispersal and iii) high individual reproductive output. Using our data as priors, a genetic modelling approach coincided, predicting this temporal and spatial stability. The same analysis showed that a reduction in population size leads to the loss of genetic variability in populations, as well as of the genetic cohesiveness between populations, pointing out the importance management for species under exploitation, such as M. edwardsii.     

Selective pressures on MHC class II genes in the guppy (Poecilia reticulata) as inferred by hierarchical analysis of population structure

Genes of the major histocompatibility complex, which are the most polymorphic of all vertebrate genes, are a pre‐eminent system for the study of selective pressures that arise from host–pathogen interactions. Balancing selection capable of maintaining high polymorphism should lead to the homogenization of MHC allele frequencies among populations, but there is some evidence to suggest that diversifying selection also operates on the MHC. However, the pattern of population structure observed at MHC loci is likely to depend on the spatial and/or temporal scale examined. Here, we investigated selection acting on MHC genes at different geographic scales using Venezuelan guppy populations inhabiting four regions. We found a significant correlation between MHC and microsatellite allelic richness across populations, which suggests the role of genetic drift in shaping MHC diversity. However, compared to microsatellites, more MHC variation was explained by differences between populations within larger geographic regions and less by the differences between the regions. Furthermore, among proximate populations, variation in MHC allele frequencies was significantly higher compared to microsatellites, indicating that selection acting on MHC may increase population structure at small spatial scales. However, in populations that have significantly diverged at neutral markers, the population‐genetic signature of diversifying selection may be eradicated in the long term by that of balancing selection, which acts to preserve rare alleles and thus maintain a common pool of MHC alleles.     

Local genetic structure in red grouse (Lagopus lagopus scoticus): evidence from microsatellite DNA markers

Allelic variation at seven hypervariable tri- and tetranucleotide microsatellite loci was used to determine levels of population differentiation between 14 populations of red grouse ( Lagopus lagopus scoticus ) in northeast Scotland, UK. Despite the potential for long-distance dispersal in grouse, and a semicontinuous habitat, significant population divergence was observed (mean R _ST = 0.153; P < 0.01) and an isolation-by-distance effect detected (Mantel test: P < 0.001). Examination of the spatial trend in principal component scores derived from allele frequencies among populations highlighted a barrier to gene flow that was confounding a simple isolation-by-distance effect. This barrier corresponded to an area of unsuitable habitat for grouse associated with a river system that bisected the study area. Mean genetic relatedness was higher for males than for females in all but one of the study populations, suggesting that the territorial behaviour and natal philopatry displayed by cocks have a manifold effect in generating the observed spatial genetic structure. Lower female relatedness values suggest a higher level of female-mediated gene flow, which is sufficient to prevent the loss of genetic variation from within populations and the onset of inbreeding effects. The potential consequences of local subdivision for red grouse populations are discussed.     

Genetic structure of age classes in Camellia japonica (Theaceae)

Camellia japonica L. (Theaceae), an insect- and bird-pollinated, broad-leaved evergreen tree, is widely distributed in Japan and the southern Korean peninsula. The species has a relatively even age distribution within populations, which may influence the spatial genetic structure of different age classes relative to species with typical L-shaped age distributions. To determine whether the internal spatial genetic structure found in seedlings and young individuals carries over into adults, we used allozyme loci, F-statistics, spatial autocorrelation statistics (Moran's I), and coancestry measures to examine changes in genetic structure among seven age classes in a population (60-m x 100-m area) in southern Korea. In seedlings, weak but significant positive values of Moran's I-statistics and coancestry measures were found for distances less than 14 m, which is consistent with a mechanism of limited seed dispersal combined with overlapping seed shadows. This spatial structure, however, dissipates in older age classes, and in adults genetic variation has an essentially random spatial distribution. Morisita's index of dispersion of individuals in each age class showed that seedlings and juveniles are more highly clustered than are older individuals. These results suggest that self-thinning changes the spatial relationships of individuals, and thus genotypes. A multilocus estimate of FST (0.008) shows a small but statistically significant difference in allele frequencies among age classes. In summary, intrapopulation genetic structure within and among age classes of C. japonica was significant but weak. Despite presumably limited seed dispersal, weak spatial genetic structure in juveniles suggests overlapping seed shadows followed by self-thinning during recruitment. The present study also demonstrates that studies of spatial genetic structure focusing on limited numbers of generations may not be sufficient to reveal the entire picture of genetic structure in populations with overlapping generations.     

Nested clade analyses of phylogeographic data: testing hypotheses about gene flow and population history

Since the 1920s, population geneticists have had measures that describe how genetic variation is distributed spatially within a species' geographical range. Modern genetic survey techniques frequently yield information on the evolutionary relationships among the alleles or haplotypes as well as information on allele frequencies and their spatial distributions. This evolutionary information is often expressed in the form of an estimated haplotype or allele tree. Traditional statistics of population structure, such as F statistics, do not make use of evolutionary genealogical information, so it is necessary to develop new statistical estimators and tests that explicitly incorporate information from the haplotype tree. One such technique is to use the haplotype tree to define a nested series of branches (clades), thereby allowing an evolutionary nested analysis of the spatial distribution of genetic variation. Such a nested analysis can be performed regarding the geographical sampling locations either as categorical or continuous variables (i.e. some measure of spatial distance). It is shown that such nested phylogeographical analyses have more power to detect geographical associations than traditional, nonhistorical analyses and, as a consequence, allow a broader range of gene-flow parameters to be estimated in a precise fashion. More importantly, such nested analyses can discriminate between phylogeographical associations due to recurrent but restricted gene flow vs. historical events operating at the population level (e.g. past fragmentation, colonization, or range expansion events). Restricted gene flow and historical events can be intertwined, and the cladistic analyses can reconstruct their temporal juxtapositions, thereby yielding great insight into both the evolutionary history and population structure of the species. Examples are given that illustrate these properties, concentrating on the detection of range expansion events.     

THE EVOLVING GENETIC HISTORY OF A POPULATION OF LATHYRUS SYLVESTRIS: EVIDENCE FROM TEMPORAL AND SPATIAL GENETIC STRUCTURE

We analyze patterns of genetic microdifferentiation within a natural population of Lathyrus sylvestris, a perennial herb with both sexual reproduction and clonal growth. In a population from the northern foothills of the Pyrénées in southwestern France, a combined demographic and genetic investigation enabled the study not only of spatial genetic structure of the population, but also of the history of the population's spatial genetic structure over time. Excavation of all individuals allowed identification of clonemates. Age of each individual was determined by counting annual growth rings in the taproot, a method tested with individuals of known age planted in experimental gardens. Each individual was mapped, and genotypes of all individuals were determined using allozyme markers for a number of polymorphic loci. Distribution patterns and spatial genetic structure, both for all individuals and for different age classes, were analyzed using spatial autocorrelation statistics (Geary's Index, Moran's Index). Patterns of gene flow within the population were also studied using F-statistics and tests for random associations of alleles. Because age, allele frequencies, and location were known for each individual, it was possible to study how spatial genetic structure changed over time. Results from all these diverse approaches are consistent with one another, and clearly show the following: (1) founder effects, with the study transect being first colonized by individuals at either end of the transect that were homozygous for different alleles at one marker locus; (2) a difference in spatial distribution of individuals originated from sexual reproduction (seedlings) and from clonal growth (connected individuals); (3) restricted gene flow, due to inbreeding among related, clumped individuals; and (4) increase in heterozygote deficit within the youngest cohort of individuals. The results indicate that genetic differentiation in time was much less marked than differentiation in space. Nevertheless, the results revealed that the studied population is experiencing demographic and genetic variation in time, suggesting that it is not at equilibrium. On the one hand, spatial structuring is becoming less marked due to the recombination of founder genotypes; on the other hand, as establishment of new individuals increases, a new spatial structure emerges due to mating between relatives.     

Spatial structuring of the population genetics of a European subterranean termite species

In population genetics studies, detecting and quantifying the distribution of genetic variation can help elucidate ecological and evolutionary processes. In social insects, the distribution of population‐level genetic variability is generally linked to colony‐level genetic structure. It is thus especially crucial to conduct complementary analyses on such organisms to examine how spatial and social constraints interact to shape patterns of intraspecific diversity. In this study, we sequenced the mitochondrial COII gene for 52 colonies of the subterranean termite Reticulitermes grassei (Isoptera: Rhinotermitidae), sampled from a population in southwestern France. Three haplotypes were detected, one of which was found exclusively in the southern part of the study area (near the Pyrenees). After genotyping 6 microsatellite loci for 512 individual termites, we detected a significant degree of isolation by distance among individuals over the entire range; however, the cline of genetic differentiation was not continuous, suggesting the existence of differentiated populations. A spatial principal component analysis based on allele frequency data revealed significant spatial autocorrelation among genotypes: the northern and southern groups were strongly differentiated. This finding was corroborated by clustering analyses; depending on the randomized data set, two or three clusters, exhibiting significant degrees of differentiation, were identified. An examination of colony breeding systems showed that colonies containing related neotenic reproductives were prevalent, suggesting that inbreeding may contribute to the high level of homozygosity observed and thus enhance genetic contrasts among colonies. We discuss the effect of evolutionary and environmental factors as well as reproductive and dispersal modes on population genetic structure.     

Estimation of effective population sizes from data on genetic markers

The effective population size (Ne) is an important parameter in ecology, evolutionary biology and conservation biology. It is, however, notoriously difficult to estimate, mainly because of the highly stochastic nature of the processes of inbreeding and genetic drift for which Ne is usually defined and measured, and because of the many factors (such as time and spatial scales, systematic forces) confounding such processes. Many methods have been developed in the past three decades to estimate the current, past and ancient effective population sizes using different information extracted from some genetic markers in a sample of individuals. This paper reviews the methodologies proposed for estimating Ne from genetic data using information on heterozygosity excess, linkage disequilibrium, temporal changes in allele frequency, and pattern and amount of genetic variation within and between populations. For each methodology, I describe mainly the logic and genetic model on which it is based, the data required and information used, the interpretation of the estimate obtained, some results from applications to simulated or empirical datasets and future developments that are needed.     

Landscape‐scale variation in an anthropogenic factor shapes immune gene variation within a wild population

Understanding the spatial scale at which selection acts upon adaptive genetic variation in natural populations is fundamental to our understanding of evolutionary ecology, and has important ramifications for conservation. The environmental factors to which individuals of a population are exposed can vary at fine spatial scales, potentially generating localized patterns of adaptation. Here, we compared patterns of neutral and major histocompatibility complex (MHC) variation within an island population of Berthelot's pipit (Anthus berthelotii) to assess whether landscape‐level differences in pathogen‐mediated selection generate fine‐scale spatial structuring in these immune genes. Specifically, we tested for spatial associations between the distribution of avian malaria, and the factors previously shown to influence that distribution, and MHC variation within resident individuals. Although we found no overall genetic structure across the population for either neutral or MHC loci, we did find localized associations between environmental factors and MHC variation. One MHC class I allele (ANBE48) was directly associated with malaria infection risk, while the presence of the ANBE48 and ANBE38 alleles within individuals correlated (positively and negatively, respectively) with distance to the nearest poultry farm, an anthropogenic factor previously shown to be an important determinant of disease distribution in the study population. Our findings highlight the importance of considering small spatial scales when studying the patterns and processes involved in evolution at adaptive loci.     

MACRO- AND MICROGEOGRAPHIC STRUCTURE OF A SPATIALLY SUBDIVIDED BEETLE SPECIES IN NATURE

Spatial subdivision of species can affect their population structure by allowing processes such as limited dispersal, spatial heterogeneity in selective pressures, small population sizes, and random events to operate. By studying species restricted to islands or “island” habitats, one can attempt to determine which of these factors have affected the current structure of the population. Collops georgianus (Coleoptera: Melyridae), a beetle species endemic to the “island” habitat of granitic rock outcrops, was chosen to see how its spatially subdivided distribution has affected its genetic structure. Its genetic structure was examined on both a macrogeographic and a microgeographic level using protein electrophoresis. Macrogeographically, 12 populations throughout its range were sampled. The discontinuous distribution of outcrops, and thus populations, throughout its range, has determined the connectivity of the populations. Significant variation in allele frequencies and substructuring (F_ST = 0.192) was found throughout the range, but there was no spatial autocorrelation. Microgeographically, in the central part of the range, where outcrops are denser and more continuously distributed in space, there was evidence of isolation by distance. Very little variation in allele frequencies was found, but a low but significant level of substructuring occurred among the populations. Comparison of disjunct and continuous populations microgeographically revealed no effect of disjunct distributions, although a significant effect of distance was detected. Effective population size variation among populations and between years, compounded with the effects of local extinctions, suggest that random processes such as drift and founder effects are important determinants of the population's genetic structure.     

Isolation by resistance across a complex coral reef seascape

A detailed understanding of the genetic structure of populations and an accurate interpretation of processes driving contemporary patterns of gene flow are fundamental to successful spatial conservation management. The field of seascape genetics seeks to incorporate environmental variables and processes into analyses of population genetic data to improve our understanding of forces driving genetic divergence in the marine environment. Information about barriers to gene flow (such as ocean currents) is used to define a resistance surface to predict the spatial genetic structure of populations and explain deviations from the widely applied isolation-by-distance model. The majority of seascape approaches to date have been applied to linear coastal systems or at large spatial scales (more than 250 km), with very few applied to complex systems at regional spatial scales (less than 100 km). Here, we apply a seascape genetics approach to a peripheral population of the broadcast-spawning coral Acropora spicifera across the Houtman Abrolhos Islands, a high-latitude complex coral reef system off the central coast of Western Australia. We coupled population genetic data from a panel of microsatellite DNA markers with a biophysical dispersal model to test whether oceanographic processes could explain patterns of genetic divergence. We identified significant variation in allele frequencies over distances of less than 10 km, with significant differentiation occurring between adjacent sites but not between the most geographically distant ones. Recruitment probabilities between sites based on simulated larval dispersal were projected into a measure of resistance to connectivity that was significantly correlated with patterns of genetic divergence, demonstrating that patterns of spatial genetic structure are a function of restrictions to gene flow imposed by oceanographic currents. This study advances our understanding of the role of larval dispersal on the fine-scale genetic structure of coral populations across a complex island system and applies a methodological framework that can be tailored to suit a variety of marine organisms with a range of life-history characteristics.     

Demographic fluctuations lead to rapid and cyclic shifts in genetic structure among populations of an alpine butterfly,Parnassius smintheus

Many populations, especially in insects, fluctuate in size, and periods of particularly low population size can have strong effects on genetic variation. Effects of demographic bottlenecks on genetic diversity of single populations are widely documented. Effects of bottlenecks on genetic structure among multiple interconnected populations are less studied, as are genetic changes across multiple cycles of demographic collapse and recovery. We take advantage of a long‐term data set comprising demographic, genetic and movement data from a network of populations of the butterfly, Parnassius smintheus, to examine the effects of fluctuating population size on spatial genetic structure. We build on a previous study that documented increased genetic differentiation and loss of spatial genetic patterns (isolation by distance and by intervening forest cover) after a network‐wide bottleneck event. Here, we show that genetic differentiation was reduced again and spatial patterns returned to the system extremely rapidly, within three years (i.e. generations). We also show that a second bottleneck had similar effects to the first, increasing differentiation and erasing spatial patterns. Thus, bottlenecks consistently drive random divergence of allele frequencies among populations in this system, but these effects are rapidly countered by gene flow during demographic recovery. Our results reveal a system in which the relative influence of genetic drift and gene flow continually shift as populations fluctuate in size, leading to cyclic changes in genetic structure. Our results also suggest caution in the interpretation of patterns of spatial genetic structure, and its association with landscape variables, when measured at only a single point in time.     

Spatio-temporal genetic variation in populations of wild emmer wheat, <Emphasis Type="Italic">Triticum turgidum</Emphasis> ssp. <Emphasis Type="Italic">dicoccoides</Emphasis>, as revealed by AFLP analysis

Genetic structure of natural populations of wild crop relatives has been the subject of many studies. Yet, most of them focused on the assessment of spatial genetic diversity, while information on long-term variation, affected by yearly changes, has been considered only in few cases. The present study aimed therefore, to estimate the spatio-temporal genetic variation in populations of wild emmer wheat, the progenitor of domesticated wheat, and to assess the contribution of spatial versus temporal factors to the maintenance of genetic variation in a population. Single spikes were collected in the years 1988 and 2002 from plants that grew in the same sampling points, from six different habitats in the Ammiad conservation site, Eastern Galilee, Israel. Seeds were planted in a nursery and DNA was extracted from each plant and analyzed by the AFLP method. Fourteen primer combinations yielded 1,545 bands of which 50.0 and 48.8% were polymorphic in the years 1988 and 2002, respectively. Genetic diversity was much larger within populations than between populations and the temporal genetic diversity was considerably smaller than the spatial one. Nevertheless, population genetic structure may vary to some degree in different years, mainly due to fluctuations in population size because of yearly rainfall variations. This may lead to predominance of different genotypes in different years. Clustering the plants by their genetic distances grouped them according to their habitats, indicating the existence of genotype-environment affinities. The significance of the results in relation to factors affecting the maintenance of polymorphism in natural populations is discussed. Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

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.     

The world distribution of the electrophoretic variants of the red cell enzyme esterase D.

The phenotypic variation in the esterase D phenotypes among 2,405 individuals in 14 samples from populations in Europe, Africa and Asia are reported. There exists a marked difference in esterase D allele frequencies in different continental regions. Comparison of the world population data so far available show that esterase D is another useful genetic parameter for the study of population diversity.