Relative Effective Population Size Research Articles

Purifying Selection Influences the Comparison of Heterozygosities between Populations.

Heterozygosity is a fundamental measure routinely used to compare between populations to infer the level of genetic variation and their relative effective population sizes. However, such comparison is highly influenced by the magnitude of selection pressure on the genomic regions used. Using over 2 million Single Nucleotide Variants (SNVs) from chimpanzee and mouse populations, this study shows that the heterozygosities estimated using neutrally evolving sites of large populations were two times higher than those of small populations. However, this difference was only ~1.6 times for the heterozygosities estimated using nonsynonymous sites. This suggests an excess in the nonsynonymous heterozygosities due to the segregation of deleterious variants in small populations. This excess in the nonsynonymous heterozygosities of the small populations was estimated to be 23-31%. Further analysis revealed that the magnitude of the excess is modulated by effective population size (Ne) and selection intensity (s). Using chimpanzee populations, this investigation found that the excess in nonsynonymous diversity in the small population was little (6%) when the difference between the Ne values of large and small populations was small (2.4 times). Conversely, this was high (23%) when the difference in Ne was large (5.9 times). Analysis using mouse populations showed that the excess in the nonsynonymous diversity of highly constrained genes of the small population was much higher (38%) than that observed for the genes under relaxed selective constraints (21%). Similar results were observed when the expression levels of genes were used as a proxy for selection intensity. These results emphasize the use of neutral regions, less constrained genes, or lowly expressed genes when comparing the heterozygosities between populations.

RAD-tag and mitochondrial DNA sequencing reveal the genetic structure of a widespread and regionally imperiled freshwater mussel, Obovaria olivaria (Bivalvia: Unionidae).

Obovaria olivaria is a species of freshwater mussel native to the Mississippi River and Laurentian Great Lakes‐St. Lawrence River drainages of North America. This mussel has experienced population declines across large parts of its distribution and is imperiled in many jurisdictions. Obovaria olivaria uses the similarly imperiled Acipenser fulvescens (Lake Sturgeon) as a host for its glochidia. We employed mitochondrial DNA sequencing and restriction site‐associated DNA sequencing (RAD‐seq) to assess patterns of genetic diversity and population structure of O. olivaria from 19 collection locations including the St. Lawrence River drainage, the Great Lakes drainage, the Upper Mississippi River drainage, the Ohioan River drainage, and the Mississippi Embayment. Heterozygosity was highest in Upper Mississippi and Great Lakes populations, followed by a reduction in diversity and relative effective population size in the St. Lawrence populations. Pairwise F ST ranged from 0.00 to 0.20, and analyses of genetic structure revealed two major ancestral populations, one including all St. Lawrence River/Ottawa River sites and the other including remaining sites; however, significant admixture and isolation by river distance across the range were evident. The genetic diversity and structure of O. olivaria is consistent with the existing literature on Acipenser fulvescens and suggests that, although northern and southern O. olivaria populations are genetically distinct, genetic structure in O. olivaria is largely clinal rather than discrete across its range. Conservation and restoration efforts of O. olivaria should prioritize the maintenance and restoration of locations where O. olivaria remain, especially in northern rivers, and to ensure connectivity that will facilitate dispersal of Acipenser fulvescens and movement of encysted glochidia.

On computing relative effective population size estimates and parameters from an equilibrium cycle of hermaphrodite frequency fluctuation due to mixed reproductive modes in filamentous fungi

Many filamentous ascomycete fungi reproduce primarily asexually, with only occasional sexual generations. This can lead to a departure from the 1:1 mating type ratio that is expected in obligate sexual populations. The relaxed selection on sexual traits also can lead to a decrease in the frequency of female fertile strains in field populations, while male fertility does not similarly decrease since male gametes also can serve as asexual spores. Both changes ultimately impact the strength of genetic drift in populations. The frequency of female sterility likely increases with the time since the last generation of sexual reproduction, such that it can be used to estimate the relative frequency of sexual reproduction. Here I provide additional details relevant to Leslie and Klein’s (1996) model of mixed sexual reproduction and vegetative propagation as related to the frequency of female sterility. This includes new or modified equations that allow for simpler calculations of i) two estimates of relative Ne, ii) the expected range of hermaphrodite frequencies during the cycles of mixed reproduction, and iii) the relative frequency of sex. These equations also are included in spreadsheet templates into which researchers can directly enter frequencies computed from their population data to estimate these parameters for their own populations. These resources will make the results of Leslie and Klein (1996) more accessible and should increase the use of this model in evaluating the frequency of sexual reproduction of filamentous fungi.

Opposing patterns of intraspecific and interspecific differentiation in sex chromosomes and autosomes.

Linking intraspecificand interspecificdivergenceis an important challenge inspeciation research. X chromosomesare expected toevolve faster than autosomes and disproportionately contribute to reproductive barriers, and comparing genetic variation on X and autosomal markers within and between species can elucidate evolutionary processes that shape genome variation. We performed RADseq on a 16 population transect of two closely related Australian cricket species,Teleogryllus commodusandT.oceanicus,covering allopatry and sympatry. This classic study system for sexual selection provides a rare exception to Haldane's rule, as hybrid females are sterile. We found no evidence of recentintrogression, despite the fact that the species coexist in overlapping habitats in the wild and interbreed in the laboratory. Putative X-linked loci showed greater differentiation between species compared with autosomal loci. However, population differentiation within species was unexpectedly lower on X-linked markers than autosomal markers, and relative X-to-autosomal genetic diversity was inflated above neutral expectations. Populations of both species showed genomic signatures of recent population expansions, but these were not strong enough to account for the inflated X/A diversity. Instead, most of the excess polymorphism on the X could better be explained by sex-biased processes that increase the relative effective population size of the X, such as interspecific variation in the strength of sexual selection among males. Taken together, the opposing patterns of diversity and differentiation at X versus autosomal loci implicate a greater role for sex-linked genes in maintaining species boundaries in this system.

Positive Selection Underlies Faster-Z Evolution of Gene Expression in Birds.

The elevated rate of evolution for genes on sex chromosomes compared with autosomes (Fast-X or Fast-Z evolution) can result either from positive selection in the heterogametic sex or from nonadaptive consequences of reduced relative effective population size. Recent work in birds suggests that Fast-Z of coding sequence is primarily due to relaxed purifying selection resulting from reduced relative effective population size. However, gene sequence and gene expression are often subject to distinct evolutionary pressures; therefore, we tested for Fast-Z in gene expression using next-generation RNA-sequencing data from multiple avian species. Similar to studies of Fast-Z in coding sequence, we recover clear signatures of Fast-Z in gene expression; however, in contrast to coding sequence, our data indicate that Fast-Z in expression is due to positive selection acting primarily in females. In the soma, where gene expression is highly correlated between the sexes, we detected Fast-Z in both sexes, although at a higher rate in females, suggesting that many positively selected expression changes in females are also expressed in males. In the gonad, where intersexual correlations in expression are much lower, we detected Fast-Z for female gene expression, but crucially, not males. This suggests that a large amount of expression variation is sex-specific in its effects within the gonad. Taken together, our results indicate that Fast-Z evolution of gene expression is the product of positive selection acting on recessive beneficial alleles in the heterogametic sex. More broadly, our analysis suggests that the adaptive potential of Z chromosome gene expression may be much greater than that of gene sequence, results which have important implications for the role of sex chromosomes in speciation and sexual selection.

Z chromosome divergence, polymorphism and relative effective population size in a genus of lekking birds.

Sex chromosomes contribute disproportionately to species boundaries as they diverge faster than autosomes and often have reduced diversity. Their hemizygous nature contributes to faster divergence and reduced diversity, as do some types of selection. In birds, other factors (mating system and bottlenecks) can further decrease the effective population size of Z-linked loci and accelerate divergence (Fast-Z). We assessed Z-linked divergence and effective population sizes for two polygynous sage-grouse species and compared them to estimates from birds with various mating systems. We found lower diversity and higher FST for Z-linked loci than for autosomes, as expected. The π(Z)/π(A) ratio was 0.38 in Centrocercus minimus, 0.48 in Centrocercus urophasianus and 0.59 in a diverged, parapatric population of C. urophasianus, a broad range given the mating system among these groups is presumably equivalent. The full data set had unequal males and females across groups, so we compared an equally balanced reduced set of C. minimus and individuals pooled from both C. urophasianus subgroups recovering similar estimates: 0.54 for C. urophasianus and 0.38 for C. minimus. We provide further evidence that N(eZ)/N(eA) in birds is often lower than expected under random mating or monogamy. The lower ratio in C. minimus could be a consequence of stronger selection or drift acting on Z loci during speciation, as this species differs strongly from C. urophasianus in sexually selected characters with minimal mitochondrial divergence. As C. minimus also exhibited lower genomic diversity, it is possible that a more severe demographic history may contribute to its lower ratio.

The Influence of Natural Variation in Population Size on Ecological and Quantitative Genetics of the Endangered Endemic PlantHypericum cumulicola

Premise of research. Genetic variation for ecologically important traits is necessary for populations to adapt to environmental change. Many authors have called for a greater emphasis on directly measuring quantitative genetic variation in rare species, which are expected to have reduced amounts of genetic variation due to genetic drift in small populations. The extent of among-population differentiation for quantitative traits may also help to evaluate the likelihood that genetic rescue/translocation will be a successful conservation strategy. Despite these merits, relatively few studies measure quantitative genetic variation for ecologically important traits as a function of population size.Methodology. Sixteen populations of the endangered plant Hypericum cumulicola were sampled, capitalizing on previous work that has estimated relative effective population sizes and demonstrated minimal migration between populations. This context allows more direct inference about the role of drift in small population...

Exploring Demographic, Physical, and Historical Explanations for the Genetic Structure of Two Lineages of Greater Antillean Bats

Observed patterns of genetic structure result from the interactions of demographic, physical, and historical influences on gene flow. The particular strength of various factors in governing gene flow, however, may differ between species in biologically relevant ways. We investigated the role of demographic factors (population size and sex-biased dispersal) and physical features (geographic distance, island size and climatological winds) on patterns of genetic structure and gene flow for two lineages of Greater Antillean bats. We used microsatellite genetic data to estimate demographic characteristics, infer population genetic structure, and estimate gene flow among island populations of Erophylla sezekorni/E. bombifrons and Macrotus waterhousii (Chiroptera: Phyllostomidae). Using a landscape genetics approach, we asked if geographic distance, island size, or climatological winds mediate historical gene flow in this system. Samples from 13 islands spanning Erophylla's range clustered into five genetically distinct populations. Samples of M. waterhousii from eight islands represented eight genetically distinct populations. While we found evidence that a majority of historical gene flow between genetic populations was asymmetric for both lineages, we were not able to entirely rule out incomplete lineage sorting in generating this pattern. We found no evidence of contemporary gene flow except between two genetic populations of Erophylla. Both lineages exhibited significant isolation by geographic distance. Patterns of genetic structure and gene flow, however, were not explained by differences in relative effective population sizes, island area, sex-biased dispersal (tested only for Erophylla), or surface-level climatological winds. Gene flow among islands appears to be highly restricted, particularly for M. waterhousii, and we suggest that this species deserves increased taxonomic attention and conservation concern.

Local Effects of Limited Recombination: Historical Perspective and Consequences for Population Estimates of Adaptive Evolution

Recent years have witnessed the integration of theoretical advances in population genetics with large-scale analyses of complete genomes, with a growing number of studies suggesting pervasive natural selection that includes frequent deleterious as well as adaptive mutations. In finite populations, however, mutations under selection alter the fate of genetically linked mutations (the so-called Hill-Robertson effect). Here we review the evolutionary consequences of selection at linked sites (linked selection) focusing on its effects on nearby nucleotides in genomic regions with nonreduced recombination. We argue that these local effects of linkage may account for differences in selection intensity among genes. We also show that even high levels of recombination are unlikely to remove all effects of linked selection, causing a reduction in the polymorphism to divergence ratio (r(pd)) at neutral sites. Because a number of methods employed to estimate the magnitude and frequency of adaptive mutations take reduced r(pd) as evidence of positive selection, ignoring local linkage effects may lead to misleading estimates of the proportion of adaptive substitutions and estimates of positive selection. These biases are caused by employing methods that do not account for local variation in the relative effective population size (N(e)) caused by linked selection.

Population dynamics of Neisseria gonorrhoeae in Shanghai, China: a comparative study

BackgroundGonorrhea is a major sexually transmitted disease (STD) in many countries worldwide. The emergence of fluoroquinolone resistance has complicated efforts to control and treat this disease. We report the first study of the evolutionary processes acting on transmission dynamics of a resistant gonococcal population from Shanghai, China. We compare these findings with our previous study of the evolution of a fluoroquinolone sensitive gonococcal population from Baltimore, MD.MethodsNinety six gonococcal samples were collected from male patients in Shanghai, China. All samples were fluoroquinolone resistant. Seven MLST housekeeping genes, two fluoroquinolone resistance genes (gyrA and parC) and the porB gene were sequenced and subjected to population genetic and evolutionary analyses. We estimated genetic diversity, recombination, growth, and selective pressure. The evolutionary history and population dynamics of the Shanghai population were also inferred and compared with that observed in a fluoroquinolone sensitive gonococcal population from Baltimore.ResultsFor both populations, mutation plays a larger role than recombination in the evolution of the porB gene, whereas the latter seems to be the main force driving the evolution of housekeeping and fluoroquinolone resistance genes. In both populations there was evidence for positively selected sites in all genes analyzed. The phylogenetic analyses showed no temporal clustering in the Shanghai gonococcal population, nor did we detect shared allelic profiles between the Shanghai and the Baltimore populations. Past population dynamics of gonococcal strains from Shanghai showed a rising relative effective population size (Ne) in MLST genes with a declining relative Ne for gyrA and parC, whereas among sensitive strains from Baltimore we previously observed concordance among these genes. In both Shanghai and Baltimore, the past population dynamics of gonococcal strains tracked changes in the prevalence of gonorrhea.ConclusionsOur study illustrates both similarities and differences in the evolutionary processes acting on gonococcal populations in different geographic areas. An explanation of this pattern that may apply in China is the continued use of quinolone antibiotics despite widespread resistance. Population genetic analysis of gonococcal strains in conjunction with epidemiological surveillance may provide insights into the epidemic behavior of antibiotic resistant strains and help to design control measures.

Metric and nonmetric dental variation and the population structure of the Ainu

Gene flow and genetic drift are important factors affecting geographic variations in human phenotypic traits. In the present study, the effects of gene flow from an outside source on the pattern of within- and among-group variation of the Ainu from Sakhalin Island and three local groups of Hokkaido are examined by applying an R-matrix approach to metric and nonmetric dental data. The comparative samples consist of their ancestral and neighboring populations, such as the Neolithic Jomon, the subsequent Epi-Jomon/Satsumon, the Okhotsk culture people who migrated from Northeast Asia to the northeastern part of Hokkaido during a period 1600-900 years B.P., and modern non-Ainu Japanese. The results obtained by using the census population sizes of the regional groups of the Ainu as an estimate of relative effective population size suggest the possibility of an admixture between the Okhotsk culture people and the indigenous inhabitants in Hokkaido, at least in the coastal region along the Sea of Okhotsk. Such gene flow from Northeast Asian continent may have exerted an effect on the genetic structure of the contemporary Ainu. The present findings indicate that the population structure, as represented by genetic drift and gene flow, tend to be obscured in the results obtained by standard statistical methods such as Mahalanobis' generalized distance and Smith's MMDs. The present extension of the R-matrix approach to metric and nonmetric dental data provide results that can be interpreted in terms of a genetically, archaeologically, and prehistorically suggested pattern of gene flow and isolation.

Structure of some East AfricanGlossina fuscipes fuscipespopulations

Glossina fuscipes fuscipes Newstead 1910 (Diptera: Glossinidae) is the primary vector of human sleeping sickness in Kenya and Uganda. This is the first report on its population structure. A total of 688 nucleotides of mitochondrial ribosomal 16S2 and cytochrome oxidase I genes were sequenced. Twenty-one variants were scored in 79 flies from three geographically diverse natural populations. Four haplotypes were shared among populations, eight were private and nine were singletons. The mean haplotype and nucleotide diversities were 0.84 and 0.009, respectively. All populations were genetically differentiated and were at demographic equilibrium. In addition, a longstanding laboratory culture originating from the Central African Republic (CAR-lab) in 1986 (or before) was examined. Haplotype and nucleotide diversities in this culture were 0.95 and 0.012, respectively. None of its 27 haplotypes were shared with the East African populations. A first approximation of relative effective population sizes was Uganda > CAR-lab > Kenya. It was concluded that the structure of G. f. fuscipes populations in East Africa is localized.

Contrasting the Efficacy of Selection on the X and Autosomes in Drosophila

To investigate the relative efficacy of both positive and purifying natural selection on the X chromosome and the autosomes in Drosophila, we compared rates and patterns of molecular evolution between these chromosome sets using the newly available alignments of orthologous genes from 12 species. Parameters that may influence the relative X versus autosomal substitution rates include the relative effective population sizes, the male and female germline mutation rates, the distribution of allelic effects on fitness, and the degree of dominance of novel mutations. Our analysis reveals that codon usage bias is consistently greater for X-linked genes, suggesting that purifying selection consistently has greater efficacy on the X chromosome than on the autosomes across the Drosophila phylogeny. However, our results are less consistent with respect to the efficacy of positive selection, with only some lineages showing a higher substitution rate on the X chromosome. This suggests that either the distribution of selective effects of mutations or other relevant parameters are sufficiently variable across species to tip the balance in different ways in individual lineages. These data suggest that rates of substitution are not solely governed by adaptive evolution. This genome-wide analysis provides a clear picture that the efficacy of selection varies intragenomically and that this effect is markedly more consistent across the phylogeny in the case of purifying selection. Our results also suggest that simple models that predict systematic differences in rates of evolution between the X and the autosomes can only be made to be compatible with these Drosophila data if the relevant population genetic parameters that drive substitution rates differ among species and chromosomal contexts.

Fertility variation and its impact on seed crops in seed production areas and a natural stand of teak in southern India

Reproductive output and fertility variation in teak were evaluated in five study sites in Western Ghats region of southern India. In four seed production areas (SPA1-4)) and a natural population (NAT) plots with 100 trees were investigated. The 40-year-old seed production areas are located in high rainfall (>2,500 mm) sites in Kerala state and the natural stand is at a drier location in Tamil Nadu. Fruit production per tree was rather high in the natural stand (1500) and quite variable in the seed production areas. SPA 4, located far south from the other sites, had the highest fruit production (almost twice that in the other study sites), high relative population size (Nr = 0.5) and predicted low genetic drift in two consecutive years. Fecundity was very low in SPAs 2 & 3 (200 fruits per tree). Reproductive output was similar in successive years except SPA 1, where the fruit production in the first year was almost five times that in the second year. Fertility variation (computed as sibling coefficient, Ψ) was in general higher in NAT and hence the relative population size was lower than in SPAs. The variation in female fertility in the natural stand was, somewhat surprisingly, similar to that in the seed production areas, while the male fertility variation was higher. In the seed production areas the male fertility variation was lower or similar to the female fertility variation. The fertility variation, Ψ was on average around 3 and correspondingly the relative effective population size, Nr = 0.36 and the variance effective number around 60. Selection for tree diameter would improve predicted diversity of the seed crop as it was positively correlated with reproductive output and negatively correlated with fertility variation among trees.

The effect of life-history and mode of inheritance on neutral genetic variability.

Formulae for the effective population sizes of autosomal, X-linked, Y-linked and maternally transmitted loci in age-structured populations are developed. The approximations used here predict both asymptotic rates of increase in probabilities of identity, and equilibrium levels of neutral nucleotide site diversity under the infinite-sites model. The applications of the results to the interpretation of data on DNA sequence variation in Drosophila, plant, and human populations are discussed. It is concluded that sex differences in demographic parameters such as adult mortality rates generally have small effects on the relative effective population sizes of loci with different modes of inheritance, whereas differences between the sexes in variance in reproductive success can have major effects, either increasing or reducing the effective population size for X-linked loci relative to autosomal or Y-linked loci. These effects need to be accounted for when trying to understand data on patterns of sequence variation for genes with different transmission modes.

Evolutionary Genetics and Genetic Variation of Haplodiploids and X-Linked Genes

The evolutionary genetics of haplodiploids and X-linked genes share many features and are different from diploid (autosomal) genes in many respects. For example, the conditions for a stable polymorphism, the amount of genetic load, and the effective population size are all expected to be quite different between haplodiploids or X-linked genes and diploids. From experimental data, the genetic load for X-linked genes is much less than autosomal genes and appears less for haplodiploids than for diploids. The observed amount of molecular variation for haplodiploids is much less than that for diploids, even more so than predicted from the differences in effective population size. Extensive recently published data suggest that the differences in variation for X-linked and autosomal genes for Drosophila, mice, and humans are consistent with the differences predicted theoretically based on the relative effective population sizes.

Mutation rates, population sizes and amounts of electrophoretic variation of enzyme loci in natural populations.

A method is presented for estimating relative mutation rates or relative effective population sizes, under the hypothesis of adaptively neutral allelic variation. This method was applied to seven surveys of electrophoretic variation. It was observed that electrophoretic mutation rates so obtained follow the gamma distribution and, in Drosophila, are positively correlated with the molecular weights of the enzymes subunits. The variance in mutation rate is larger under the step-wise model of electrophoretic mutation than under the infinite-alleles model. Rates for the most variable loci may exceed rates for less variable loci by a factor of 500. For completely invariant loci, this factor may be as high as 4 X 10(4), an observation suggesting that these loci are subject to purifying selection. In contrast to mutation rates, effective population sizes may vary at the most by a factor of ten. These results support the hypothesis that differences in the amount of electrophoretic variability among polymorphic loci may reflect differences in the rate by which electrophoretically detectable variation is generated in population.