分子生态学重要概念——遗传距离及其测度的理论研究概况

综述了遗传距离的概念、背景,有关遗传距离的几种基本的突变模型以及和遗传距离有关的参量和几种常用统计量,指出在处理蛋白质数据、分子数据以及序列数据时,如何选择相应的统计量和可用的软件包,同时还着重指明了各种模型的假设前提,为处理实际的蛋白质或分子数据时选择合适的模型,和对数据的最终解释提供一些帮助。     

Genetic Distances and Reconstruction of Phylogenetic Trees from Microsatellite DNA

Recently many investigators have used microsatellite DNA loci for studying the evolutionary relationships of closely related populations or species, and some authors proposed new genetic distance measures for this purpose. However, the efficiencies of these distance measures in obtaining the correct tree topology remains unclear. We therefore investigated the probability of obtaining the correct topology (P(C)) for these new distances as well as traditional distance measures by using computer simulation. We used both the infinite-allele model (IAM) and the stepwise mutation model (SMM), which seem to be appropriate for classical markers and microsatellite loci, respectively. The results show that in both the IAM and SMM CAVALLI-SFORZA and EDWARDS'' chord distance (D(C)) and NEI et al.''s D(A) distance generally show higher P(C) values than other distance measures, whether the bottleneck effect exists or not. For estimating evolutionary times, however, NEI''s standard distance and GOLDSTEIN et al.''s (δ μ)(2) are more appropriate than other distances. Microsatellite DNA seems to be very useful for clarifying the evolutionary relationships of closely related populations.     

Population‐specific deviations of global human craniometric variation from a neutral model

Past studies have revealed that much of human craniometric variation follows a neutral model of population relationships. At the same time, there is evidence for the influence of natural selection in having shaped some global diversity in craniometrics. In order to partition these effects, and to explore other potential population‐specific influences, this article analyzes residuals of craniometric distances from a geographically based neutral model of population structure. W.W. Howells' global craniometric data set was used for these analyses, consisting of 57 measurements for 22 populations around the world, excluding Polynesia and Micronesia because of the relatively recent settlement of these regions. Phenotypic and geographic distances were derived between all pairs of populations. Three‐dimensional multidimensional scaling configurations were obtained for both distance matrices, and compared using a Procrustes rotation method to show which populations do not fit the geographic model. This analysis revealed three major deviations: the Buriat, Greenland Inuit, and Peru. The deviations of the Buriat and Greenland Inuit appear to be related to long‐term adaptation to cold environments. The Peruvian sample is more similar to other New World populations than expected based on geographic distance alone. This deviation likely reflects the evolutionarily recent movement of human populations into South America, such that these populations are further from genetic equilibrium. This same pattern is seen in South American populations in a comparative analysis of classical genetic markers, but not in a comparative analysis of STR loci, perhaps reflecting the higher mutation rate for the latter. Am J Phys Anthropol, 2010. © 2009 Wiley‐Liss, Inc.     

Genetic studies among seven endogamous populations of the Koshi Zone, Bihar (India)

The distribution of AB0 and Rhesus blood groups, PTC taste sensitivity and colour blindness was studied among seven endogamous populations (Tharu, Mushar, Santal, Dhobi, Julaha, Kulhaiya and Karan Kayastha) in the Koshi Zone of Bihar (India). The phenotype and allele frequencies of the four gene loci (AB0, RH, PTC and colour blindness) show considerable differences between these populations. The measurement of genetic distances revealed, that the lowest genetic distance is seen between Dhobi and Julaha, the highest between Mushar and Tharu. From the genetic distance analysis there is some evidence for a close genetic relationship among the population groups belonging to the same region, irrespective of their caste, religion, linguistic or any other affinities. It may be concluded that all these populations have arisen through a common ancestor and changed gene frequencies among them is due to evolutionary forces like mutation, selection, migration, temporal variation and genetic drift. However, these populations retain their separate entities by practising endogamy. Gene diversity analysis reveals that these populations are at an early stage of genetic differentiation.     

Genetic distance and species formation in evolving populations

Summary We compare the behavior of the genetic distance between individuals in evolving populations for three stochastic models.In the first model reproduction is asexual and the distribution of genetic distances reflects the genealogical tree of the population. This distribution fluctuates greatly in time, even for very large populations.In the second model reproduction is sexual with random mating allowed between any pair of individuals. In this case, the population becomes homogeneous and the genetic distance between pairs of individuals has small fluctuations which vanish in the limit of an infinitely large population.In the third model reproduction is still sexual but instead of random mating, mating only occurs between individuals which are genetically similar to each other. In that case, the population splits spontaneously into species which are in reproductive isolation from one another and one observes a steady state with a continual appearance and extinction of species in the population. We discuss this model in relation to the biological theory of speciation and isolating mechanisms.We also point out similarities between these three models of evolving populations and the theory of disordered systems in physics. Offprint requests to: P.G. Higgs     

SLOWLY SWITCHING BETWEEN ENVIRONMENTS FACILITATES REVERSE EVOLUTION IN SMALL POPULATIONS

Natural populations must constantly adapt to ever‐changing environmental conditions. A particularly interesting question is whether such adaptations can be reversed by returning the population to an ancestral environment. Such evolutionary reversals have been observed in both natural and laboratory populations. However, the factors that determine the reversibility of evolution are still under debate. The time scales of environmental change vary over a wide range, but little is known about how the rate of environmental change influences the reversibility of evolution. Here, we demonstrate computationally that slowly switching between environments increases the reversibility of evolution for small populations that are subject to only modest clonal interference. For small populations, slow switching reduces the mean number of mutations acquired in a new environment and also increases the probability of reverse evolution at each of these “genetic distances.” As the population size increases, slow switching no longer reduces the genetic distance, thus decreasing the evolutionary reversibility. We confirm this effect using both a phenomenological model of clonal interference and also a Wright–Fisher stochastic simulation that incorporates genetic diversity. Our results suggest that the rate of environmental change is a key determinant of the reversibility of evolution, and provides testable hypotheses for experimental evolution.     

Do polymorphic loci require large sample sizes to estimate genetic distances?

The coefficient of variation of estimates of three genetic distances (standard genetic distance of Nei, chord distance, FST) was examined with computer simulation to determine if large samples (per population) are necessary to precisely estimate genetic distances at loci with high levels of polymorphism. These simulations showed that loci with high mutation rates produce estimates of genetic distance with lower coefficients of variation than loci with lower mutation rates--without requiring larger sample sizes from each population. In addition, the rate at which increasing sample sizes decreases the coefficient of variation of estimates of genetic distances was shown to be approximately determined by the value of FST between the populations being sampled. When FST was greater than 0.05, sampling fewer than 20 individuals (per population) should be sufficient. When FST was less than 0.01, sampling 100 individuals (per population) or more will be useful.     

Effects of landscape and history on diversification of a montane, stream-breeding amphibian

Aim The aim of this study was to understand the roles of landscape features in shaping patterns of contemporary and historical genetic diversification among populations of the Andean tree frog (Hypsiboas andinus) across spatial scales. Location Andes mountains, north‐western Argentina, South America. Methods Mitochondrial DNA control region sequences were utilized to assess genetic differentiation among populations and calculate population pair‐wise genetic distances. Three models of movement, namely traditional straight‐line distance and two effective distances based on habitat classification, were examined to determine which of these explained the most variation in pair‐wise population genetic differentiation. The two habitat classifications were based on digital vegetation and hydrology layers that were generated from a 90‐m resolution digital elevation model (DEM) and known relationships between elevation and habitat. Mantel tests were conducted to test for correlations between geographic and genetic distance matrices and to estimate the percentage variation explained by each type of geographic distance. To investigate the location of possible barriers to gene flow, we used Monmonier’s maximum difference algorithm as implemented in barrier 2.2. Results At both geographic scales, effective distances explained more variation in genetic differentiation than did straight‐line distance. The least‐cost distances based on the simple classification performed better than the more detailed habitat classification. We controlled for the effects of historical range fragmentation determined from previous nested clade analyses, and therefore evaluated the effect of different distances on the genetic variation attributable to more recent factors. Effective distances identified populations that were highly divergent as a result of isolation in unsuitable habitats. The proposed locations of barriers to gene flow identified using Monmonier’s maximum difference algorithm corresponded well with earlier analyses and supported findings from our partial Mantel tests. Main conclusions Our results indicate that landscape features have been important in both historical and contemporary genetic structuring of populations of H. andinus at both large and small spatial scales. A landscape genetic perspective offers novel insights not provided by traditional phylogeographic studies: (1) effective distances can better explain patterns of differentiation in populations, especially in heterogeneous landscapes where barriers to dispersal may be common; and (2) least‐cost path analysis can help to identify corridors of movement between populations that are biologically more realistic.     

Decomposed pairwise regression analysis of genetic and geographic distances reveals a metapopulation structure of stream-dwelling Dolly Varden charr

Isolation by distance is usually tested by the correlation of genetic and geographic distances separating all pairwise populations' combinations. However, this method can be significantly biased by only a few highly diverged populations and lose the information of individual population. To detect outlier populations and investigate the relative strengths of gene flow and genetic drift for each population, we propose a decomposed pairwise regression analysis. This analysis was applied to the well-described one-dimensional stepping-stone system of stream-dwelling Dolly Varden charr ( Salvelinus malma ). When genetic and geographic distances were plotted for all pairs of 17 tributary populations, the correlation was significant but weak ( r ² = 0.184). Seven outlier populations were determined based on the systematic bias of the regression residuals, followed by Akaike's information criteria. The best model, 10 populations included, showed a strong pattern of isolation by distance ( r ² = 0.758), suggesting equilibrium between gene flow and genetic drift in these populations. Each outlier population was also analysed by plotting pairwise genetic and geographic distances against the 10 nonoutlier populations, and categorized into one of the three patterns: strong genetic drift, genetic drift with a limited gene flow and a high level of gene flow. These classifications were generally consistent with a priori predictions for each population (physical barrier, population size, anthropogenic impacts). Combined the genetic analysis with field observations, Dolly Varden in this river appeared to form a mainland-island or source-sink metapopulation structure. The generality of the method will merit many types of spatial genetic analyses.     

Genetic analysis of microsatellite polymorphism in the Elliot's Pheasant (Syrmaticus ellioti) in China

In this study, we reported the population genetic analyses in the Elliot's Pheasant(Syrnaticus ellioti) using seven polymorphism microsatellite loci based on 105 individuals from 4 geographical populations. Departures from Hardy-Weinberg equilibrium were found in four geographical populations. The average number of alleles was 8.86, with a total of 62 alleles across 7 loci; observed heterozygosity (HO) was generally low and the average number was 0.504. For the seven microsatellite loci, the polymorphism information content ranged from 0.549 to 0.860, with an average number 0.712. Population bottlenecks of the four geographical populations were tested by infinite allele mutation model, step-wise mutation model and two-phase mutation model, which found that each population had experienced bottleneck effect during the recent period. Fst analysis across all geographical populations indicated that the genetic differentiaton between the Guizhou geographical population and the Hunan geographical population was highly significant (P<0.001), a finding supported by the far genetic relationship showed by the neighbor-joining tree of four geographical populations based on Nei's unbiased genetic distances. Using hierarchical analysis of molecular variance (Guizhou geographical population relative to all others pooled), we found a low level of the genetic variation among geographical populations and that between groups. However, differences among populations relative to the total sample explained most of the genetic variance (92.84%), which was significant.     

Genetic Distances Based on Quantitative Traits

Morphological data showing continuous distributions, polygenically controlled, may be particularly useful in intergroup classification below the species level; an appropriate distance analysis based on these traits is an important tool in evolutionary biology and in plant and animal breeding.--The interpretation of morphological distances in genetic terms is not easy because simple phenotypic data may lead to biased estimates of genetic distances. Convenient estimates can be obtained whenever it is possible to breed populations according to a suitable crossing design and to derive information from genetic parameters.--A general method for determining genetic distances is proposed. The procedure of multivariate analysis of variance is extended to estimate appropriate genetic parameters (genetic effects). Not only are optimal statistical estimates of parameters obtained but also the procedure allows the measurement of genetic distances between populations as linear functions of the estimated parameters, providing an appropriate distance matrix that can be defined in terms of these parameters. The use of the T2 statistic, defined in terms of the vector of contrasts specifying the distance, permits the testing of the significance of any distance between any pair of populations that may be of interest from a genetic point of view.--A numerical example from maize diallel data is reported in order to illustrate the procedure. In particular, heterosis effects are used as the basis for estimates of genetic divergence between populations.     

MAINTENANCE OF POLYGENIC VARIATION IN SPATIALLY STRUCTURED POPULATIONS: ROLES FOR LOCAL MATING AND GENETIC REDUNDANCY

Although heritable genetic variation is critical to the evolutionary process, we know little about how it is maintained. Obviously, mutation-selection balance must play a role, but there is considerable doubt over whether it can account for heritabilities as high as 0.5, which are commonly found in natural populations. Most models of mutation-selection balance assume panmictic populations. In this paper we use Monte Carlo simulations to examine the effect of isolation by distance on the variation maintained by mutation in a polygenic trait subject to optimizing selection. We show that isolation by distance can substantially increase the total variation maintained in continuous populations over a wide range of dispersal patterns, but only if more than one genotype produces the optimal phenotype (genetic redundancy). Isolation by distance alone has only a slight effect on the variation maintained in the total population for neutral alleles. The combined effect of isolation by distance and genetic redundancy, however, allows the maintenance of substantial variation despite strong stabilizing selection. The mechanism is straightforward. Isolation by distance allows mutation and drift to operate independently in different parts of the population. Because of their independent evolutionary histories, different parts of the population independently draw from the available set of redundant genotypes. Because the genotypes are redundant, selection does not discriminate among them, and they will persist until eliminated by drift. The population as a whole maintains many distinct genotypes. We show that this process allows mutation to maintain high levels of variation, even under strong stabilizing selection, and that over a moderate range of dispersal patterns the amount of variation maintained in the entire population is independent of both the strength of selection and the variance of the dispersal distance. Furthermore, we show that individual heterozygosity is increased in locally mating populations when selection is strong. Finally, our simulations provide a rough picture of how selection and the dispersal pattern influence the spatial distribution of genetic and phenotypic variation.     

我国草鱼野生群体D-Loop序列遗传变异分析

利用线粒体DNA的D-Loop区序列, 对来自长江水系(邗江、吴江、九江、石首、木洞和万州)、珠江水系(肇庆)和黑龙江水系(嫩江)的8个草鱼野生群体开展了遗传变异分析。在424尾鱼中检测到34个变异位点, 34个单倍型, 单倍型多样性介于0.4740.708。群体间Kimura双参数遗传距离介于0.00200.0049。长江下游3个群体间遗传距离最近, 遗传分化不显著(P0.05); 肇庆群体与长江上游3个群体遗传距离较近, 与九江群体遗传分化不显著(P0.05); 嫩江群体与长江上游2个群体遗传距离较近, 与万州群体遗传分化不显著(P0.05)。遗传距离与地理距离存在极显著正相关(R=0.61, P0.01)。分子方差分析显示, 不同流域间遗传变异占总变异26.24%, 差异极显著(P0.01)。34个单倍型分为2个分支, 分化极显著(FST=0.644, P0.01), 推测分化时间为第四纪更新世纪晚期。       

Contrasting microsatellite variation between subalpine and western larch, two closely related species with different distribution patterns

Subalpine larch (Larix lyallii Parl.) and western larch (Larix occidentalis Nutt.) represent two closely related species with contrasting abundance and distribution patterns in Western North America. Genetic diversity at seven informative microsatellite loci was determined for 19 populations of subalpine larch and nine populations of western larch. Contrasting genetic diversity and patterns of population differentiation were observed between the two species. The overall within-population genetic diversity parameters were lower in subalpine larch (A = 3.2; A(P) = 3.6; H(E) = 0.418) than in western larch (A(P) = 5.51; H(E) = 0.580), a pattern that is likely related to historical or demographic factors. No evidence of interspecific hybridization was observed. Significantly more population differentiation (theta = 0.15; R(ST) = 0.07), consistent with more restricted gene flow, was observed for subalpine larch as compared to western larch (theta = 0.05; R(ST) = 0.04). Under the assumption of an infinite allele mutation model, 12 of the 19 subalpine larch populations showed signs of deviation from the mutation-drift equilibrium, which suggests Holocene population bottlenecks and fluctuations in effective population size for this species. None of the western larch populations deviated significantly from the mutation-drift equilibrium. For both species, Mantel's test revealed a significant positive relationship between geographical and genetic distances indicative of isolation by distance. A similar geographical structure was detected in both species, suggesting at least two genetically distinct glacial populations in each species. The various implications for gene conservation are discussed.     

THE DIVERGENCE OF NEUTRAL QUANTITATIVE CHARACTERS AMONG PARTIALLY ISOLATED POPULATIONS

The neutral model of phenotypic evolution has yielded several simple predictions about the long-term rates of between-population divergence of polygenic traits and about the equilibrium level of within-population variance when mutation and random genetic drift are the sole evolutionary forces. These conclusions must be modified if populations are only partially isolated. A quantitative model is presented for the development of within- and between-population variance for neutral quantitative characters in pairs of populations with arbitrary effective sizes and migration rates. Both the variance in the base population and subsequent variance generated by mutation are considered, and several dynamical and equilibrium properties are shown to be adequately described by simple approximations. The resultant formulations provide some insight into the sensitivity of measures of morphological distance to gene flow, the necessity of isolation for the accumulation of variation between incipient species, and the consequences of gene flow into captive populations of endangered species.     

Spatial genetic structure of the southeastern North American endemic, Ceratiola ericoides (Empetraceae)

Understanding the spatial distribution of genetic diversity (i.e., spatial genetic structure [SGS]) within plant populations can elucidate mechanisms of seed dispersal and patterns of recruitment that may play an important role in shaping the demography and spatial distribution of individuals in subsequent generations. Here we investigate the SGS of allozyme diversity in 2 populations of the southeastern North American endemic shrub, Ceratiola ericoides. The data suggest that the 2 populations have similar patterns of SGS at distances of 0-45 m that likely reflect the isolation by distance (IBD) model of seed dispersal. However, at distances >or=50 m, the pattern of SGS differs substantially between the 2 populations. Whereas one population continues to reflect the classical IBD pattern, the second population shows a marked increase in autocorrelation coefficient (r) values at 50-75 m. Furthermore, r values at these distances are as much as 33% higher than at 0-5 m where the highest r value would be predicted by IBD. A likely explanation is the differing frequencies of 2 fruit morphologies in these populations and the greater role that birds play in seed dispersal in the second population.     

Phenotypic Variation in Infants,Not Adults,Reflects Genotypic Variation among Chimpanzees and Bonobos

Studies comparing phenotypic variation with neutral genetic variation in modern humans have shown that genetic drift is a main factor of evolutionary diversification among populations. The genetic population history of our closest living relatives, the chimpanzees and bonobos, is now equally well documented, but phenotypic variation among these taxa remains relatively unexplored, and phenotype-genotype correlations are not yet documented. Also, while the adult phenotype is typically used as a reference, it remains to be investigated how phenotype-genotye correlations change during development. Here we address these questions by analyzing phenotypic evolutionary and developmental diversification in the species and subspecies of the genus Pan. Our analyses focus on the morphology of the femoral diaphysis, which represents a functionally constrained element of the locomotor system. Results show that during infancy phenotypic distances between taxa are largely congruent with non-coding (neutral) genotypic distances. Later during ontogeny, however, phenotypic distances deviate from genotypic distances, mainly as an effect of heterochronic shifts between taxon-specific developmental programs. Early phenotypic differences between Pan taxa are thus likely brought about by genetic drift while late differences reflect taxon-specific adaptations.     

Phylogenetic inference under the pure drift model

When pairwise genetic distances are used for phylogenetic reconstruction, it is usually assumed that the genetic distance between two taxa contains information about the time after the two taxa diverged. As a result, upon an appropriate transformation if necessary, the distance usually can be fitted to a linear model such that it is expressed as the sum of lengths of all branches that connect the two taxa in a given phylogeny. This kind of distance is referred to as "additive distance." For a phylogenetic tree exclusively driven by random genetic drift, genetic distances related to coancestry coefficients (theta XY) between any two taxa are more suitable. However, these distances are fundamentally different from the additive distance in that coancestry does not contain any information about the time after two taxa split from a common ancestral population; instead, it reflects the time before the two taxa diverged. In other words, the magnitude of theta XY provides information about how long the two taxa share the same evolutionary pathways. The fundamental difference between the two kinds of distances has led to a different algorithm of evaluating phylogenetic trees when theta XY and related distance measures are used. Here we present the new algorithm using the ordinary- least-squares approach but fitting to a different linear model. This treatment allows genetic variation within a taxon to be included in the model. Monte Carlo simulation for a rooted phylogeny of four taxa has verified the efficacy and consistency of the new method. Application of the method to human population was demonstrated.      

Estimating the phylogeny in mollusc Littorina saxatilis (Olivi) from enzyme data: methodological considerations

The evolutionary history of 19 populations of Littorina saxatilis (Olivi) was estimated by four different approaches. Three of these operate upon a population by population matrix of genetic distances: average linkage clustering, and two versions of the Fitch-Margoliash method. The fourth method was a maximum likelihood estimate based on differences in allele frequencies between populations. The study aims to assess how well each method estimates the phylogeny by including seven populations of the closely related species L. arcana Hannaford Ellis. The rationale behind this is that a good estimation technique should be able to separate these two monophyletic taxa.The results show that, by our criteria, the maximum likelihood method yields the best estimate and the unconstrained Fitch-Margoliash technique gives reasonable estimates. Both average-linkage clustering and the Fitch-Margoliash method with evolutionary clock perform less well. We argue that this is expected since both these techniques are based on probably unrealistic assumptions such as the overall rate of evolutionary divergence being homogeneous over phyletic lines.     

Small-scale spatial genetic structure in the Central African rainforest tree species Aucoumea klaineana: a stepwise approach to infer the impact of limited gene dispersal, population history and habitat fragmentation

Under the isolation-by-distance model, the strength of spatial genetic structure (SGS) depends on seed and pollen dispersal and genetic drift, which in turn depends on local demographic structure. SGS can also be influenced by historical events such as admixture of differentiated gene pools. We analysed the fine-scale SGS in six populations of a pioneer tree species endemic to Central Africa, Aucoumea klaineana. To infer the impacts of limited gene dispersal, population history and habitat fragmentation on isolation by distance, we followed a stepwise approach consisting of a Bayesian clustering method to detect differentiated gene pools followed by the analysis of kinship-distance curves. Interestingly, despite considerable variation in density, the five populations situated under continuous forest cover displayed very similar extent of SGS. This is likely due to an increase in dispersal distance with decreased tree density. Admixture between two gene pools was detected in one of these five populations creating a distinctive pattern of SGS. In the last population sampled in open habitat, the genetic diversity was in the same range as in the other populations despite a recent habitat fragmentation. This result may due to the increase of gene dispersal compensating the effect of the disturbance as suggested by the reduced extent of SGS estimated in this population. Thus, in A. klaineana, the balance between drift and dispersal may facilitate the maintenance of genetic diversity. Finally, from the strength of the SGS and population density, an indirect estimate of gene dispersal distances was obtained for one site: the quadratic mean parent-offspring distance, sigma(g), ranged between 210 m and 570 m.