An important goal of conservation genetics is to determine if the viability of small populations is reduced by a loss of adaptive variation due to genetic drift. Here, we assessed the impact of drift and selection on direct measures of adaptive variation (toxin loci encoding venom proteins) in the eastern massasauga rattlesnake (Sistrurus catenatus), a threatened reptile that exists in small isolated populations. We estimated levels of individual polymorphism in 46 toxin loci and 1,467 control loci across 12 populations of this species, and compared the results with patterns of selection on the same loci following speciation of S. catenatus and its closest relative, the western massasauga (S. tergeminus). Multiple lines of evidence suggest that both drift and selection have had observable impacts on standing adaptive variation. In support of drift effects, we found little evidence for selection on toxin variation within populations and a significant positive relationship between current levels of adaptive variation and long‐ and short‐term estimates of effective population size. However, we also observed levels of directional selection on toxin loci among populations that are broadly similar to patterns predicted from interspecific selection analyses that pre‐date the effects of recent drift, and that functional variation in these loci persists despite small short‐term effective sizes. This suggests that much of the adaptive variation present in populations may represent an example of “drift debt,” a nonequilibrium state where present‐day levels of variation overestimate the amount of functional genetic diversity present in future populations. 相似文献
The curriculum for genetics courses is shifting from a classical to a more molecular genetics focus, increasing the importance of subjects such as population genetics. Population genetics is a computational and statistical field that requires a good understanding of the nature of stochastic events. It is a difficult field for biology students with a limited mathematical background and there is a need for visualisation tools to facilitate understanding by the use of practical examples. WinPop provides students and researchers with a visual tool to allow the simulation and representation of population genetics phenomena. WinPop is a user-friendly software meant for use in population genetics courses and basic research. WinPop 2.5 contains six different modules that represent and simulate population genetics models. Genotype and allele frequencies are calculated under the different models: panmixia, genetic drift, assortative matings, selection, gene flow and mutation. The program's interface presents information in Cartesian graphics and isosceles triangular coordinate systems, allowing the user to save graphical and textual data output from the simulations. WinPop is developed in Visual Basic 6.0 and uses Windows 95 and higher. WinPop 2.5 can be downloaded from http://www.genedrift.org/winpop.php. 相似文献
When every individual has an equal chance of mating with other individuals, the population is classified as panmictic. Amongst metazoan parasites of animals, local-scale panmixia can be disrupted due to not only non-random mating, but also non-random transmission among individual hosts of a single host population or non-random transmission among sympatric host species. Population genetics theory and analyses can be used to test the null hypothesis of panmixia and thus, allow one to draw inferences about parasite population dynamics that are difficult to observe directly. We provide an outline that addresses 3 tiered questions when testing parasite panmixia on local scales: is there greater than 1 parasite population/species, is there genetic subdivision amongst infrapopulations within a host population, and is there asexual reproduction or a non-random mating system? In this review, we highlight the evolutionary significance of non-panmixia on local scales and the genetic patterns that have been used to identify the different factors that may cause or explain deviations from panmixia on a local scale. We also discuss how tests of local-scale panmixia can provide a means to infer parasite population dynamics and epidemiology of medically relevant parasites. 相似文献
The relationship between quantitative genetics and population genetics has been studied for nearly a century, almost since the existence of these two disciplines. Here we ask to what extent quantitative genetic models in which selection is assumed to operate on a polygenic trait predict adaptive fixations that may lead to footprints in the genome (selective sweeps). We study two-locus models of stabilizing selection (with and without genetic drift) by simulations and analytically. For symmetric viability selection we find that ∼16% of the trajectories may lead to fixation if the initial allele frequencies are sampled from the neutral site-frequency spectrum and the effect sizes are uniformly distributed. However, if the population is preadapted when it undergoes an environmental change (i.e., sits in one of the equilibria of the model), the fixation probability decreases dramatically. In other two-locus models with general viabilities or an optimum shift, the proportion of adaptive fixations may increase to >24%. Similarly, genetic drift leads to a higher probability of fixation. The predictions of alternative quantitative genetics models, initial conditions, and effect-size distributions are also discussed. 相似文献
Genetic drift and natural selection were analyzed in a genetically isolated Zapotec-speaking community in the Valley of Oaxaca, southern Mexico. Moderately intense genetic drift and selection potentials were found. Potential for drift was related to (1) the small effective size of the population, and (2) the exceptionally low number of migrants into the population. Potential for selection was due to (1) an unusually high variance in fertility, and (2) a high contribution of prereproductive mortality. Significant potential for genetic evolution was found due to genetic drift and natural selection. 相似文献
Population genetics is often taught in introductory biology classes, starting with the Hardy-Weinberg principle (HWP) and genetic drift. Here I argue that teaching these two topics first aligns neither with current expert knowledge, nor with good pedagogy. Student difficulties with mathematics in general, and probability in particular, make population genetics difficult to teach and learn. I recommend an alternative, historically inspired ordering of population genetics topics, based on progressively increasing mathematical difficulty. This progression can facilitate just-in-time math instruction. This alternative ordering includes, but does not privilege, the HWP and genetic drift. Stochastic events whose consequences are felt within a single generation, and the deterministic accumulation of the effects of selection across multiple generations, are both taught before tackling the stochastic accumulation of the effects of accidents of sampling. 相似文献
Albacore tuna (Thunnus alalunga) has a distinctly complex life history in which juveniles and adults separate geographically but at times inhabit the same spaces sequentially. The species also migrates long distances and presumably experiences varied regimes of physical stress over a lifetime. There are, therefore, many opportunities for population structure to arise based on stochastic differences or environmental factors that promote local adaptation. However, with the extent of mobility consistently demonstrated by tagged individuals, there is also a strong argument for panmixia within an ocean basin. It is important to confirm such assumptions from a population genetics standpoint for this species in particular because albacore is one of the principal market tuna species that sustains massive global fisheries and yet is also a slow‐growing temperate tuna. Consequently, we used 1,837 neutral SNP loci and 89 loci under potential selection to analyze population genetic structure among five sample groups collected from the western and central South Pacific. We found no evidence to challenge panmixia at neutral loci, but strong indications of structuring at adaptive loci. One population sample, from French Polynesia in 2004, was particularly differentiated. Unfortunately, the current study cannot infer whether the divergence is geographic or temporal, or possibly caused by sample distribution. We encourage future studies to include potentially adaptive loci and to continue fine‐scale observations within an ocean basin, and not to assume genome‐wide panmixia. 相似文献
Selected substitutions at one locus can induce stochastic dynamics that resemble genetic drift at a closely linked neutral locus. The pseudohitchhiking model is a one-locus model that approximates these effects and can be used to describe the major consequences of linked selection. As the changes in neutral allele frequencies when hitchhiking are rapid, diffusion theory is not appropriate for studying neutral dynamics. A stationary distribution and some results on substitution processes are presented that use the theory of continuous-time Markov processes with discontinuous sample paths. The coalescent of the pseudohitchhiking model is shown to have a random number of branches at each node, which leads to a frequency spectrum that is different from that of the equilibrium neutral model. If genetic draft, the name given to these induced stochastic effects, is a more important stochastic force than genetic drift, then a number of paradoxes that have plagued population genetics disappear. 相似文献
Theoretically, both balancing selection and genetic drift can contribute to the maintenance of gender polymorphism within and/or among populations. However, if strong differences exist among genotypes in the quantity of viable gametes they produce, then it is expected that these differences will play an important role in determining the relative frequency of the genotypes and contribute to whether or not such polymorphism is maintained. In this issue, De Cauwer et al. (2010) describe an investigation of gynodioecious wild sea beet, which in addition to containing females, contain two types of hermaphrodites: restored hermaphrodites carrying a cytoplasm that causes pollen sterility and a nuclear gene that restores pollen fertility, and hermaphrodites without the sterilizing cytoplasm. The results show that restored hermaphrodites, who have relatively low pollen viability, achieve disproportionately high siring success simply because of where they are located in a patchy population ( Fig. 1 ). Notably, these individuals tend to be close to females because of the genetics of sex determination. These results indicate that population structure caused by drift processes can have an unexpectedly large effect on the fitness of these low quality hermaphrodites, thereby contributing in the short term to the maintenance of gynodioecy in this population. While these results indicate that population structure caused by drift processes can have a large effect on the relative fitness of genetic variants, whether these effects promote or discourage the maintenance of polymorphism in the long term is still up for debate. Figure 1 Open in figure viewer PowerPoint A stretch of beach along which wild sea beet can be seen to be growing among the rocks above the splash zone. This linear arrangement enhances the potential for mating success to depend on proximity to other plants (Photo: J.‐F. Arnaud). 相似文献
Local adaptation experiments are widely used to quantify the levels of adaptation within a heterogeneous environment. However, theoretical studies generally focus on the probability of fixation of alleles or the mean fitness of populations, rather than local adaptation as it is commonly measured experimentally or in field studies. Here, we develop mathematical models and use them to generate analytical predictions for the level of local adaptation as a function of selection, migration and genetic drift. First, we contrast mean fitness and local adaptation measures and show that the latter can be expressed in a simple and general way as a function of the spatial covariance between population mean phenotype and local environmental conditions. Second, we develop several approximations of a population genetics model to show that the system exhibits different behaviours depending on the rate of migration. The main insights are the following: with intermediate migration, both genetic drift and migration decrease local adaptation; with low migration, drift decreases local adaptation but migration speeds up adaptation; with high migration, genetic drift has no effect on local adaptation. Third, we extend this analysis to cases where the trait under selection is continuous using classical quantitative genetics theory. Finally, we discuss these results in the light of recent experimental work on local adaptation. 相似文献
The genetic composition of present day human populations is determined largely by the interaction between the human host
and infective agents. Therefore, theoretical analysis of the host-infective-agent system is required in order for us to be
able to understand human evolution. Classical population genetics has been confined largely to analysing the interplay of
various mechanisms, such as selection, mutation and drift, in one species at a time. Unfortunately, there have been few studies
of such interactive systems. In the present investigation, these studies have been enlarged, with problems of human genetics
in mind, by mathematical examination of a model in which a diploid host with three alleles interacts with a haploid infective
agent with two alleles. The results are compared with those obtained from simpler models analysed in the past. The assumptions
inherent in such “gene for gene” models and our results are discussed. An increase in the number of alleles appears to enhance
the chances for the establishment of permanent genetic polymorphisms, improving genetic “elasticity” of a population for coping
with changing challenges by various infective agents. Interaction between two haploid species leads to a loss of polymorphism
in both of them and, hence, to a severe loss of evolutionary elasticity. The hypothesis that the evolution of diploidy might
have been favoured by a selective advantage of diploid organisms interacting with environmental challenges, such as infective
agents, is supported.
Received: 6 October 1997 / Accepted: 26 November 1997 相似文献
The site-frequency spectrum, representing the distribution of allele frequencies at a set of polymorphic sites, is a commonly
used summary statistic in population genetics. Explicit forms of the spectrum are known for both models with and without selection
if independence among sites is assumed. The availability of these explicit forms has allowed for maximum likelihood estimation
of selection, developed first in the Poisson random field model of Sawyer and Hartl, which is now the primary method for estimating
selection directly from DNA sequence data. The independence assumption, which amounts to assume free recombination between
sites, is, however, a limiting case for many population genetics models. Here, we extend the site-frequency spectrum theory
to consider the case where the sites are completely linked. We use diffusion approximation to calculate the joint distribution
of the allele frequencies of linked sites for models without selection and for models with equal coefficient selection. The
joint distribution is derived by first constructing Green’s functions corresponding to multiallele diffusion equations. We
show that the site-frequency spectrum is highly correlated between frequencies that are complementary (i.e., sum to 1), and
the correlation is significantly elevated by positive selection. The results presented here can be used to extend the Poisson
random field to allow for estimating selection for correlated sites. More generally, the Green’s function construction should
be able to aid in studying the genetic drift of multiple alleles in other cases. 相似文献
Interpreting the levels of genetic diversity in organisms with diverse life and population histories can be difficult. The
processes and mechanisms regulating this diversity are complex and still poorly understood. However, endangered species typically
have low genetic variation as a consequence of the effects of genetic drift in small populations. In this study we examine
genetic variation in the critically endangered Chatham Island Taiko (Tchaik, Pterodroma magentae), one of the world’s rarest seabirds. The Taiko has a very small population size of between 120 and 150 individuals, including
just 8–15 breeding pairs. We report surprisingly high mitochondrial and nuclear genetic diversity in this critically endangered
long-lived species. We hypothesise that the present Taiko population has retained a significant proportion of its past genetic
diversity. However, it is also possible that undiscovered birds are breeding in unknown areas, which could increase the population
size estimate. Importantly, from a conservation perspective, we show that the high level of variation is unlikely to be maintained
in the future since chicks currently being born have only a limited number of the mitochondrial DNA haplotypes found in adults.
Reduced genetic variation will mean that our ability to infer past events and the population history of Taiko using genetics
could soon be lost and the power to determine, for example, parentage and other close order relationships will be diminished.
Therefore, the maintenance of genetic diversity in future generations is an important consideration for conservation management
of the Taiko. 相似文献
In a subdivided population, genetic drift affects variation between groups, and thus it can have an important effect on the outcome of evolution (Wright, 1978). The rate of genetic drift is determined, in part, by the behaviour of population members. This paper presents three mathematical models in which behavioural traits that affect the rate of genetic drift are allowed to coevolve with traits that are under selection at the group and individual levels. The results show that if group selection is strong relative to individual selection, then behavioural traits that enhance the rate of genetic drift will tend to increase in frequency. The strength of this effect depends, in part, on the way in which vacant sites are colonized. 相似文献
We study a population genetics model of an organism with a genome of L(tot)loci that determine the values of T quantitative traits. Each trait is controlled by a subset of L loci assigned randomly from the genome. There is an optimum value for each trait, and stabilizing selection acts on the phenotype as a whole to maintain actual trait values close to their optima. The model contains pleiotropic effects (loci can affect more than one trait) and epistasis in fitness. We use adaptive walk simulations to find high-fitness genotypes and to study the way these genotypes are distributed in sequence space. We then simulate the evolution of haploid and diploid populations on these fitness landscapes and show that the genotypes of populations are able to drift through sequence space despite stabilizing selection on the phenotype. We study the way the rate of drift and the extent of the accessible region of sequence space is affected by mutation rate, selection strength, population size, recombination rate, and the parameters L and T that control the landscape shape. There are three regimes of the model. If LTL(tot), there are many small peaks that can be spread over a wide region of sequence space. Compensatory neutral mutations are important in the population dynamics in this case. 相似文献
A founder event occurs when a new population is established from a small number of individuals drawn from a large ancestral population. Mayr proposed that genetic drift in an isolated founder population could alter the selective forces in an epistatic system, an observation supported by recent studies. Carson argued that a period of relaxed selection could occur when a founder population is in an open ecological niche, allowing rapid population growth after the founder event. Selectable genetic variation can actually increase during this founder-flush phase due to recombination, enhanced survival of advantageous mutations, and the conversion of non-additive genetic variance into additive variance in an epistatic system, another empirically confirmed prediction. Templeton combined the theories of Mayr and Carson with population genetic models to predict the conditions under which founder events can contribute to speciation, and these predictions are strongly confirmed by the empirical literature. Much of the criticism of founder speciation is based upon equating founder speciation to an adaptive peak shift opposed by selection. However, Mayr, Carson and Templeton all modeled a positive interaction of selection and drift, and Templeton showed that founder speciation is incompatible with peak-shift conditions. Although rare, founder speciation can have a disproportionate importance in adaptive innovation and radiation, and examples are given to show that "rare" does not mean "unimportant" in evolution. Founder speciation also interacts with other speciation mechanisms such that a speciation event is not a one-dimensional process due to either selection alone or drift alone. 相似文献
While it is well understood that the pace of evolution depends on the interplay between natural selection, random genetic drift, mutation, and gene flow, it is not always easy to disentangle the relative roles of these factors with data from natural populations. One popular approach to infer whether the observed degree of population differentiation has been influenced by local adaptation is the comparison of neutral marker gene differentiation (as reflected in FST) and quantitative trait divergence (as reflected in QST). However, this method may lead to compromised statistical power, because FST and QST are summary statistics which neglect information on specific pairs of populations, and because current multivariate tests of neutrality involve an averaging procedure over the traits. Further, most FST-QST comparisons actually replace QST by its expectation over the evolutionary process and are thus theoretically flawed. To overcome these caveats, we derived the statistical distribution of population means generated by random genetic drift and used the probability density of this distribution to test whether the observed pattern could be generated by drift alone. We show that our method can differentiate between genetic drift and selection as a cause of population differentiation even in cases with FST=QST and demonstrate with simulated data that it disentangles drift from selection more accurately than conventional FST-QST tests especially when data sets are small. 相似文献
The interactions of evolutionary forces are difficult to analyse in free-living populations. However, when properly understood, they provide valuable insights into evolutionary biology and conservation genetics. This is particularly important for the interplay of genetic drift and natural selection in immune genes that confer resistance to disease. The Galápagos Islands are inhabited by four closely related species of mockingbirds (Mimus spp.). We used 12 different-sized populations of Galápagos mockingbirds and one population of their continental relative northern mockingbird (Mimus polyglottos) to study the effects of genetic drift on the molecular evolution of immune genes, the Toll-like receptors (TLRs: TLR1B, TLR4 and TLR15). We found that neutral genetic diversity was positively correlated with island size, indicating an important effect of genetic drift. However, for TLR1B and TLR4, there was little correlation between functional (e.g., protein) diversity and island size, and protein structural properties were largely conserved, indicating only a limited effect of genetic drift on molecular phenotype. By contrast, TLR15 was less conserved and even its putative functional polymorphism correlated with island size. The patterns observed for the three genes suggest that genetic drift does not necessarily dominate selection even in relatively small populations, but that the final outcome depends on the degree of selection constraint that is specific for each TLR locus. 相似文献
Quantitative genetic analyses of basal metabolic rate (BMR) can inform us about the
evolvability of the trait by providing estimates of heritability, and also of genetic
correlations with other traits that may constrain the ability of BMR to respond to
selection. Here, we studied a captive population of zebra finches (Taeniopygia
guttata) in which selection lines for male courtship rate have been established. We
measure BMR in these lines to see whether selection on male sexual activity would change
BMR as a potentially correlated trait. We find that the genetic correlation between
courtship rate and BMR is practically zero, indicating that the two traits can evolve
independently of each other. Interestingly, we find that the heritability of BMR in our
population (h2=0.45) is markedly higher than was previously
reported for a captive zebra finch population from Norway. A comparison of the two studies
shows that additive genetic variance in BMR has been largely depleted in the Norwegian
population, especially the genetic variance in BMR that is independent of body mass. In
our population, the slope of BMR increase with body mass differs not only between the
sexes but also between the six selection lines, which we tentatively attribute to genetic
drift and/or founder effects being strong in small populations. Our study therefore
highlights two things. First, the evolvability of BMR may be less constrained by genetic
correlations and lack of independent genetic variation than previously described. Second,
genetic drift in small populations can rapidly lead to different evolvabilities across
populations. 相似文献