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Genetic diversity varies among species due to a range of eco-evolutionary processes that are not fully understood. The neutral theory predicts that the amount of variation in the genome sequence between different individuals of the same species should increase with its effective population size (Ne). In real populations, multiple factors that modulate the variance in reproductive success among individuals cause Ne to differ from the total number of individuals (N). Among these, age-specific mortality and fecundity rates are known to have a direct impact on the ratio. However, the extent to which vital rates account for differences in genetic diversity among species remains unknown. Here, we addressed this question by comparing genome-wide genetic diversity across 16 marine fish species with similar geographic distributions but contrasted lifespan and age-specific survivorship and fecundity curves. We sequenced the whole genome of 300 individuals to high coverage and assessed their genome-wide heterozygosity with a reference-free approach. Genetic diversity varied from 0.2 to 1.4% among species, and showed a negative correlation with adult lifespan, with a large negative effect (slope = − 0.089 per additional year of lifespan) that was further increased when brooding species providing intense parental care were removed from the dataset (slope = −0.129 per additional year of lifespan). Using published vital rates for each species, we showed that the ratio resulting simply from life tables parameters can predict the observed differences in genetic diversity among species. Using simulations, we further found that the extent of reduction in with increasing adult lifespan is particularly strong under Type III survivorship curves (high juvenile and low adult mortality) and increasing fecundity with age, a typical characteristic of marine fishes. Our study highlights the importance of vital rates as key determinants of species genetic diversity levels in nature.Author SummaryUnderstanding how and why genetic diversity varies across species has important implications for evolutionary and conservation biology. Although genomics has vastly improved our ability to document intraspecific DNA sequence variation at the genome level, the range and determinants of genetic diversity remain partially understood. At a broad taxonomic scale in eukaryotes, the main determinants of diversity are reproductive strategies distributed along a trade-off between the quantity and the size of offspring, which likely affect the long-term effective population size. Long-lived species also tend to show lower genetic diversity, a result which has however not been reported by comparative studies of genetic diversity at lower taxonomic scales. Here, we compared genetic diversity across 16 European marine fish species showing marked differences in longevity. Adult lifespan was the best predictor of genetic diversity, with genome-wide average heterozygosity ranging from 0.2% in the black anglerfish (L. budegassa) to 1.4% in the European pilchard (S. pilchardus). Using life tables summarizing age-specific mortality and fecundity rates for each species, we showed that the variance in lifetime reproductive success resulting from age structure, iteroparity and overlapping generations can predict the range of observed differences in genetic diversity among marine fish species. We then used computer simulations to explore how combinations of vital rates characterizing different life histories affect the relationship between adult lifespan and genetic diversity. We found that marine fishes that display high juvenile but low adult mortality, and increasing fecundity with age, are typically expected to show reduced genetic diversity with increased adult lifespan. However, the impact of adult lifespan vanished using bird and mammal-like vital rates. Our study shows that variance in lifetime reproductive success can have a major impact on species genetic diversity and explains why this effect varies widely across taxonomic groups.

A long-term study of a bolster heath–pond system at Newdegate Pass, Mount Field, Tasmania, was designed to test a theory of cyclical dynamics and to determine why there was constancy in the proportions of species in stable mosaic bolster heath, while their individual distributions changed. Groups of permanent plots were monitored approximately once every 5 years between 1983 and 2017, in apparently stable, apparently colonising, apparently recovering and apparently degrading bolster heath. The putatively stable sites exhibited an average of 37% spatial turnover in the three early 5-year periods, with reciprocal replacements between many pairs of species; however, there was little evidence of long-term directional change except for expansion of a gymnosperm shrub across the top of the bolster mosaic at one site. This pattern suggests a cyclical succession of species in the stable mosaic; however, the mechanism driving cyclicity remains unclear, with facilitation, competition and stochastic processes being implicated at different times and locations. These cyclic changes were likely to have been largely endogenous, given the variability and autocorrelations in relative growth rates of the stable mosaic over short horizontal distances, conforming with neutral theory. The process of dam vegetation loss after draining was rapid, as was vegetation colonisation of the floor of one dam and recovery from fire. On a putatively colonising site on rocky ground, changes were subdued but directionally consistent with the previously proposed model, which was consistent with all long-term observations.

The relative contributions of adaptation and genetic drift to morphological diversification of the skulls of echolocating mammals were investigated using two horseshoe bat species, Rhinolophus simulator and R. cf. simulator, as test cases. We used 3D geometric morphometrics to compare the shapes of skulls of the two lineages collected at various localities in southern Africa. Size and shape variation was predominantly attributed to selective forces; the between‐population variance (B) was not proportional to the within‐population variance (W). Modularity was evident in the crania of R. simulator but absent in the crania of R. cf. simulator and the mandibles of both species. The skulls of the two lineages thus appeared to be under different selection pressures, despite the overlap in their distributions. Difference in the crania of R. cf. simulator was centered largely on the nasal dome region of R. cf. simulator but on the cranium and mandibles of R. simulator. It is likely that the size and shape of the nasal dome, which acts as a frequency‐dependent acoustic horn, is more crucial in R. cf. simulator than in R. simulator because of the higher echolocation frequencies used by R. cf. simulator. A larger nasal dome in R. cf. simulator would allow the emission of higher intensity pulses, resulting in comparable detection distances to that of R. simulator. In contrast, selection pressure is probably more pronounced on the mandibles and cranium of R. simulator to compensate for the loss in bite force because of its elongated rostrum. The predominance of selection probably reflects the stringent association between environment and the optimal functioning of phenotypic characters associated with echolocation and feeding in bats., The relative contributions of adaptation and drift to morphological diversification of the crania of echolocating mammals were investigated using two horseshoe bat species, Rhinolophus simulator and R. cf. simulator, as test cases. Shape variation was predominantly attributed to selective forces. The predominance of selection probably reflects the stringent association between environment and the optimal functioning of phenotypic characters associated with echolocation and feeding in bats.

In October, nations of the world will begin negotiations for the post‐2020 Global Biodiversity Framework under the Convention on Biological Diversity. An influential ambition is “bending the curve of biodiversity loss,” which aims to reverse the decline of global biodiversity indicators. A second relevant, yet less prominent, milestone is the 20th anniversary of the publication of The Unified Neutral Theory of Biodiversity and Biogeography. Here, I apply neutral theory to show how global biodiversity indicators for population size (Living Planet Index) and extinction threat (Red List Index) decline under neutral ecological drift. This demonstrates that declining indicators are not solely caused by deterministic species‐specific or geographical patterns of biodiversity loss. Instead, indicators are sensitive to nondirectional stochasticity. Thus, “bending the curve” could be assessed relative to a counterfactual based on neutral theory, rather than static baselines. If used correctly, the 20‐year legacy of neutral theory can be extended to make a valuable contribution to the post‐2020 Global Biodiversity Framework., Global biodiversity indicators for populations (Living Planet Index) and extinction threat (Red List Index) decline under random ecological drift. The consequence of this is that prominent aspirations to “bend the curve of biodiversity loss” may be untenable, at least in terms of current biodiversity metrics. The Unified Neutral Theory of Biodiversity and Biogeography—which celebrates its 20th anniversary this year—could be used as a counterfactual against which to measure progress toward the post‐2020 Global Biodiversity Framework.

Volcanic CO2 seeps are natural laboratories that can provide insights into the adaptation of species to ocean acidification. While many species are challenged by reduced‐pH levels, some species benefit from the altered environment and thrive. Here, we explore the molecular mechanisms of adaptation to ocean acidification in a population of a temperate fish species that experiences increased population sizes under elevated CO2. Fish from CO2 seeps exhibited an overall increased gene expression in gonad tissue compared with those from ambient CO2 sites. Up‐regulated genes at CO2 seeps are possible targets of adaptive selection as they can directly influence the physiological performance of fishes exposed to ocean acidification. Most of the up‐regulated genes at seeps were functionally involved in the maintenance of pH homeostasis and increased metabolism, and presented a deviation from neutral evolution expectations in their patterns of DNA polymorphisms, providing evidence for adaptive selection to ocean acidification. The targets of this adaptive selection are likely regulatory sequences responsible for the increased expression of these genes, which would allow a fine‐tuned physiological regulation to maintain homeostasis and thrive at CO2 seeps. Our findings reveal that standing genetic variation in DNA sequences regulating the expression of genes in response to a reduced‐pH environment could provide for adaptive potential to near‐future ocean acidification in fishes. Moreover, with this study we provide a forthright methodology combining transcriptomics and genomics, which can be applied to infer the adaptive potential to different environmental conditions in wild marine populations.

Ecology cannot yet fully explain why so many tree species coexist in natural communities such as tropical forests. A major difficulty is linking individual-level processes to community dynamics. We propose a combination of tree spatial data, spatial statistics and dynamical theory to reveal the relationship between spatial patterns and population-level interaction coefficients and their consequences for multispecies dynamics and coexistence. Here we show that the emerging population-level interaction coefficients have, for a broad range of circumstances, a simpler structure than their individual-level counterparts, which allows for an analytical treatment of equilibrium and stability conditions. Mechanisms such as animal seed dispersal, which result in clustering of recruits that is decoupled from parent locations, lead to a rare-species advantage and coexistence of otherwise neutral competitors. Linking spatial statistics with theories of community dynamics offers new avenues for explaining species coexistence and calls for rethinking community ecology through a spatial lens., Tree spatial data, spatial statistics and dynamical theory reveal the relationship between spatial patterns and population-level interaction coefficients and their consequences for multispecies dynamics and coexistence.

While having one or more specific functions, macromolecules have collective functions (e.g. Donnan equilibrium and aggregation pressure), and general functions (e.g. contribution to organism weight). Successful molecular evolution requires an appropriate balance between the constraints on these functions, which arise from selective pressures acting at the levels of conventional phenotypes (natural selection) and genome phenotypes (reprotypic selection). Genome-wide constraints include fold pressure (nucleic acid stem-loop extrusion pressure) and GC-pressure (the pressure for a certain base composition). When these bring about within-genome reprotypic selection (hybrid sterility), there is the potential for new species to emerge (speciation). Local constraints include protein pressure (the pressure to encode a protein) and purine-loading pressure (purine-rich messenger ribonucleic acid (mRNA) synonymous strands). As more pressures are identified, arguments for neutral evolution weaken. Key Concepts: Molecules have specific, collective and general functions. Most macromolecules function by virtue of their higher ordered structure. Nucleic acids have both structural and templating functions. Each species achieves its own balance between the competing demands (constraints) of external and internal environments. The organismal phenotype comprises the classical phenotype and the genome phenotype. Natural selection operates on the classical phenotype. Reprotypic selection operates on the genome phenotype. By balancing natural and reprotypic selection mechanisms, the ‘hand of nature’ resolves conflicts between functions. Keywords: conflict resolution; degenerate code; GC rule; neutralism; purine-loading; speciation

Nearly neutral theory is an extension of the neutral theory and contends that the borderline mutations, whose effects lie between the selected and the neutral classes, are important at the molecular level. Under the strict neutral theory, the evolutionary rate is equal to the neutral mutation rate. Under the near-neutrality, the situation is not so simple and the most significant difference between the neutral and the nearly neutral theories is that the latter predicts a negative correlation between evolutionary rate and species population size. The nearly neutral theory also predicts abundant rare alleles in the population as compared with strict neutrality. Genome-wide data on protein evolution are mostly in accord with the nearly neutral theory. Genetic regulatory systems are highly complex. The near-neutrality concept may be extended to the evolution of such systems, where epigenetics and robustness are important for gene expression and many mutations are weakly selected. Key Concepts: The emphasis of significance of weak selection in evolution distinguishes the nearly neutral theory from the neutral theory. The nearly neutral theory contends that the interplay of drift and weak selection is important and predicts that evolution is more rapid in small populations than in large populations. Many observed patterns of protein evolution by measuring synonymous and nonsynonymous divergences are in accord with the nearly neutral theory. Observed molecular polymorphisms within a population often show abundance of rare alleles, in accord with the prediction of the nearly neutral theory. Numerous complex systems work together in living cells such as those in chromatin modelling/remodelling and in various signalling pathways. Interplay of drift and weak selection is important for evolution of such complex systems. Keywords: slightly deleterious mutations; drift; effectiveness of selection; interplay of drift and selection for evolution of complex systems

Cancer growth can be described as a caricature of the renewal process of the tissue of origin, where the tissue architecture has a strong influence on the evolutionary dynamics within the tumor. Using a classic, well-studied model of tumor evolution (a passenger-driver mutation model) we systematically alter spatial constraints and cell mixing rates to show how tissue structure influences functional (driver) mutations and genetic heterogeneity over time. This approach explores a key mechanism behind both inter-patient and intratumoral tumor heterogeneity: competition for space. Time-varying competition leads to an emergent transition from Darwinian premalignant growth to subsequent invasive neutral tumor growth. Initial spatial constraints determine the emergent mode of evolution (Darwinian to neutral) without a change in cell-specific mutation rate or fitness effects. Driver acquisition during the Darwinian precancerous stage may be modulated en route to neutral evolution by the combination of two factors: spatial constraints and limited cellular mixing. These two factors occur naturally in ductal carcinomas, where the branching topology of the ductal network dictates spatial constraints and mixing rates., Some cancers occur in spatially constrained tissues such as the mammary gland, and how the morphological features influence the evolution of the cancer is unclear. Here, the authors use mathematical modeling to study the question of competition for space and provide inferences on the mode of evolution of cancers in such tissues.

Bitter taste perception is important in food choice of animals, and it is mediated by bitter taste receptor (T2R) containing three regions: extracellular regions (ECs), transmembrane regions (TMs), and intracellular regions (ICs). It is hypothesized that ECs, TMs, and ICs are under different selective pressures, with ECs being unstable while TMs and ICs being constrained. To test this hypothesis, we examined the selective pressures on one of the bitter taste receptor genes‐T2R1 and its different areas from 35 primates and found that T2R1 was under neutral evolution but with some positively selected sites in it. Further analyses suggested that TMs, ICs, and the concatenated transmembrane region TM1237 were under purifying selection; in contrast, extracellular regions, the first and second extracellular loop (EL1, EL2), were subject to positive selection with several positively selected sites in them. Therefore, this study supported the above‐mentioned hypothesis. The reason why EL1 and EL2 of T2R1 have positively selected sites is probably due to their participation in forming the cap‐like structure involved in ligand binding. Positive selection acts as a driving force of the T2R1 functional differentiation and confers the ability to discern various bitter substances for primates, which could help them to adapt to the changing environment during the evolutionary course., Positive selection acts as a driving force of the T2R1 functional differentiation and confers the ability to discern various bitter substances for primate, which could help them to adapt to the changing environment during the evolutionary course.

Evolution has led to a great diversity that ranges from elegant simplicity to ornate complexity. Many complex features are often assumed to be more functional or adaptive than their simpler alternatives. However, in 1999, Arlin Stolzfus published a paper in the Journal of Molecular Evolution that outlined a framework in which complexity can arise through a series of non-adaptive steps. He called this framework Constructive Neutral Evolution (CNE). Despite its two-decade-old roots, many evolutionary biologists still appear to be unaware of this explanatory framework for the origins of complexity. In this perspective piece, we explain the theory of CNE and how it changes the order of events in narratives that describe the evolution of complexity. We also provide an extensive list of cellular features that may have become more complex through CNE. We end by discussing strategies to determine whether complexity arose through neutral or adaptive processes.

Understanding how and why species abundance distributions (SADs) vary with sampling scale has been a long-standing issue in ecology. By fitting various SAD models with observations collected in three large forest field plots, the objective of this study is to explore how the shape of SADs and the predictive ability of SAD models vary with sampling scales. Based on a large dataset collected in the Changbaishan, Jiaohe and Liangshui forests in northeastern China, observed SADs were compared with SADs estimated using five different models (log-normal, broken stick, Zipf, niche preemption and neutral model) at four sampling scales (10 × 10 m, 30 × 30 m, 60 × 60 m and 90 × 90 m). The results show that the studied SADs are scale dependent. Niche-based models provided a better fit at small sample sizes, the predictive ability decreasing with increasing sampling scale. The neutral model performed better at large sample sizes, the predictive ability increasing with increasing sampling scale. We identify the models that provided the best fit to observed species abundance distributions across spatial scales, and conclude that there is not one best SAD model for all spatial scales. Future studies should consider the scale effects on the species abundance distribution.

Enhancement of plant diversity via the Janzen-Connell mechanism is often measured relative to neutral models that ignore species' competitive differences. Recent modelling indicates this mechanism is ineffective when included in models incorporating species' demographic variations. This suggests we have been asking the wrong questions when measuring the effectiveness of diversity-enhancing mechanisms.

Teeth have been studied for decades and continue to reveal information relevant to human evolution. Studies have shown that many traits of the outer enamel surface evolve neutrally and can be used to infer human population structure. However, many of these traits are unavailable in archaeological and fossil individuals due to processes of wear and taphonomy. Enamel-dentine junction (EDJ) morphology, the shape of the junction between the enamel and the dentine within a tooth, captures important information about tooth development and vertebrate evolution and is informative because it is subject to less wear and thus preserves more anatomy in worn or damaged specimens, particularly in mammals with relatively thick enamel like hominids. This study looks at the molar EDJ across a large sample of human populations. We assessed EDJ morphological variation in a sample of late Holocene modern humans (n = 161) from archaeological populations using μ-CT biomedical imaging and geometric morphometric analyses. Global variation in human EDJ morphology was compared to the statistical expectations of neutral evolution and "Out of Africa" dispersal modeling of trait evolution. Significant correlations between phenetic variation and neutral genetic variation indicate that EDJ morphology has evolved neutrally in humans. While EDJ morphology reflects population history, its global distribution does not follow expectations of the Out of Africa dispersal model. This study increases our knowledge of human dental variation and contributes to our understanding of dental development more broadly, with important applications to the investigation of population history and human genetic structure.

Recent studies suggest that a significant proportion of cancers undergo neutral tumor evolution. We applied neutral evolution model in HNSCC patients from The Cancer Genome Atlas (TCGA). To ensure the accuracy of classification results, a sample with the purity of tumor0.7 was excluded. A tumor sample was considered to evolve neutrally if R

The emergence of a coordinated network of cognitive and speech genes in the human lineage performing overlapping functions is a great evolutionary puzzle. Prior studies on the speech gene FOXP2 are inconclusive on the nature of selection operating on this gene in the human lineage. Here, I show that the evolution of FOXP2 is accelerated in the human lineage due to relaxation of purifying selection (relaxed selection). Five potential genes associated with human-specific intelligence and speech genes have evolved under the impact of positive selection and three genes including FOXP2 have undergone relaxation of purifying selection in the human lineage. Overall, three evolutionary processes namely positive selection, relaxation of purifying selection and neutral evolution have contributed for the genomic evolution of extraordinary cognitive ability and speech in the hominin lineage. The cognitive and speech genes subjected to natural selection in the human lineage have demonstrated a coevolutionary trend.

The objective of this article is to prove that “Seven non-Darwinian theories opposite to evolution”. However, the genetic drift represents the punctuated equilibrium, the shifting balance theory, the allopatric speciation theory and the species selection theory for the macroevolution. The genetic drift rapidly works in a small and isolated population and not works in a large population. Hence, genetic drift means small and isolated population and vice-versa. But the genetic drift creates zero variation. But there is no variation (raw materials of any kind of evolution); there is no evolution. Hence, evolutionary biologists rejected genetic drift for any kind of evolution. Again, genetic drift means small and isolated but those populations have to mate with their close relative and produced homozygous organisms. Homozygous organisms have low fecundity, suffer from various diseases, least fitted to survive and may extinct suddenly, e.g. American Heath hen. Thus, small populations and isolated populations (i.e. genetic drift) are opposite to any kind of evolution, even risk for extinction. However, genetic drift is also the key force of Neutral theory, which works in smalls and isolated populations. Consequently, Neutral theory is opposite to any kind of evolution. So, many evolutionary biologists rejected Neutral theory. Once more, evolutionary biologists rejected the shifting balance theory, the punctuated equilibrium theory and of Goldschmidt’s theory. Gould and Wright advocated chromosomal speciation (chromosome rearrangements) theory for macroevolution but which are not valid. Moreover, extinction is the main process of the macroevolution, which is quite absurd. The fossil is the excellent and only evidence of those theories of macroevolution. But fossil completely opposes macroevolution. So, those seven non-Darwinian theories are opposite to any kind of evolution. Consequently, the Darwinists, the neo-Darwinists and the Sociobiology’s oppose those non-Darwinian. Subsequently, plants and animals including human are not evolved via those theories.

Mutation is a primary source of genetic variation that is used to power evolution. Many studies, however, have shown that most mutations are deleterious and, as a result, extremely low mutation rates might be beneficial for survival. Using a mutation accumulation experiment, an unbiased method for mutation study, we found an extremely low base-substitution mutation rate of 5.94 × 10–11 per nucleotide site per cell division (95% Poisson confidence intervals: 4.65 × 10–11, 7.48 × 10–11) and indel mutation rate of 8.25 × 10–12 per site per cell division (95% confidence intervals: 3.96 × 10–12, 1.52 × 10–11) in the bacterium Photorhabdus luminescens ATCC29999. The mutations are strongly A/T-biased with a mutation bias of 10.28 in the A/T direction. It has been hypothesized that the ability for selection to lower mutation rates is inversely proportional to the effective population size (drift-barrier hypothesis) and we found that the effective population size of this bacterium is significantly greater than most other bacteria. This finding further decreases the lower-bounds of bacterial mutation rates and provides evidence that extreme levels of replication fidelity can evolve within organisms that maintain large effective population sizes.

Neutral theory proposes that some macroscopic biodiversity patterns can be explained in terms of drift, speciation and immigration, without invoking niches. There are many different varieties of neutral model, all assuming that the fitness of an individual is unrelated to its species identity. Variants that are spatially explicit provide a means for making quantitative predictions about spatial biodiversity patterns. We present software packages that make spatially explicit neutral simulations straightforward and efficient. The packages allow the user to customize both dispersal and landscape structure in a wide variety of ways. We provide a Python package pycoalescence and a functionally equivalent R package rcoalescence. In both packages, the core routines are written in C++ and make use of coalescence methods to optimize performance. We explain the technical details of the packages and give examples for their application, with a particular focus on two scenarios of ecological and evolutionary interest: a landscape with habitat fragmentation, and an archipelago of islands. Spatially explicit neutral models represent an important tool in ecology for understanding the processes of biodiversity generation and predicting outcomes at large scales. The effort required to implement these complex spatially explicit simulations efficiently has thus far been a barrier to entry. Our packages increase the accessibility of these models and encourage further investigation of the primary mechanisms underpinning biodiversity.

Highlights • Outgroup was not used due to the unknown source of SARS-CoV-2. • 16,373 SARS-CoV-2 genomes were included in this evolution analysis. • Nine key specific sites of high linkage and four major haplotypes were found. • Epidemic trends and possible earlier origins of SARS-CoV-2 were indicated., Objectives To further reveal the phylogenetic evolution and molecular characteristics of the whole genome of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) based on a large number of genomes and provide a basis for the prevention and treatment of SARS-CoV-2. Methods Various evolution analysis methods were employed. Results The estimated ratio of the rates of non-synonymous to synonymous changes (Ka/Ks) of SARS-CoV-2 was 1.008 or 1.094 based on 622 or 3624 SARS-CoV-2 genomes and nine key specific sites of high linkage, and four major haplotypes were found: H1, H2, H3 and H4. The results of Ka/Ks, detected population size and development trends of each major haplotype showed that H3 and H4 subgroups were going through a purify evolution and almost disappeared after detection, indicating that they might have existed for a long time. The H1 and H2 subgroups were going through a near neutral or neutral evolution and globally increased with time, and the frequency of H1 was generally high in Europe and correlated with the death rate (r >0.37), suggesting that these two haplotypes might relate to the infectivity or pathogenicity of SARS-CoV-2. Conclusions Several key specific sites and haplotypes related to the infectivity or pathogenicity of SARS-CoV-2, and the possible earlier origin time and place of SARS-CoV-2 were indicated based on the evolution and epidemiology of 16,373 SARS-CoV-2 genomes.

Background Convergent and parallel evolution provide unique insights into the mechanisms of natural selection. Some of the most striking convergent and parallel (collectively recurrent) amino acid substitutions in proteins are adaptive, but there are also many that are selectively neutral. Accordingly, genome-wide assessment has shown that recurrent sequence evolution in orthologs is chiefly explained by nearly neutral evolution. For paralogs, more frequent functional change is expected because additional copies are generally not retained if they do not acquire their own niche. Yet, it is unknown to what extent recurrent sequence differentiation is discernible after independent gene duplications in different eukaryotic taxa. Results We develop a framework that detects patterns of recurrent sequence evolution in duplicated genes. This is used to analyze the genomes of 90 diverse eukaryotes. We find a remarkable number of families with a potentially predictable functional differentiation following gene duplication. In some protein families, more than ten independent duplications show a similar sequence-level differentiation between paralogs. Based on further analysis, the sequence divergence is found to be generally asymmetric. Moreover, about 6% of the recurrent sequence evolution between paralog pairs can be attributed to recurrent differentiation of subcellular localization. Finally, we reveal the specific recurrent patterns for the gene families Hint1/Hint2, Sco1/Sco2 and vma11/vma3. Conclusions The presented methodology provides a means to study the biochemical underpinning of functional differentiation between paralogs. For instance, two abundantly repeated substitutions are identified between independently derived Sco1 and Sco2 paralogs. Such identified substitutions allow direct experimental testing of the biological role of these residues for the repeated functional differentiation. We also uncover a diverse set of families with recurrent sequence evolution and reveal trends in the functional and evolutionary trajectories of this hitherto understudied phenomenon.

It has recently become apparent that the diversity of microbial life extends far below the species level to the finest scales of genetic differences. Remarkably, extensive fine-scale diversity can coexist spatially. How is this diversity stable on long timescales, despite selective or ecological differences and other evolutionary processes? Most work has focused on stable coexistence or assumed ecological neutrality. We present an alternative: extensive diversity maintained by ecologically driven spatiotemporal chaos, with no assumptions about niches or other specialist differences between strains. We study generalized Lotka-Volterra models with antisymmetric correlations in the interactions inspired by multiple pathogen strains infecting multiple host strains. Generally, these exhibit chaos with increasingly wild population fluctuations driving extinctions. But the simplest spatial structure, many identical islands with migration between them, stabilizes a diverse chaotic state. Some strains (subspecies) go globally extinct, but many persist for times exponentially long in the number of islands. All persistent strains have episodic local blooms to high abundance, crucial for their persistence as, for many, their average population growth rate is negative. Snapshots of the abundance distribution show a power law at intermediate abundances that is essentially indistinguishable from the neutral theory of ecology. But the dynamics of the large populations are much faster than birth-death fluctuations. We argue that this spatiotemporally chaotic "phase" should exist in a wide range of models, and that even in rapidly mixed systems, longer-lived spores could similarly stabilize a diverse chaotic phase.

Background Adaptive changes in cis-regulatory elements are an essential component of evolution by natural selection. Identifying adaptive and functional noncoding DNA elements throughout the genome is therefore crucial for understanding the relationship between phenotype and genotype. Results We used ENCODE annotations to identify appropriate proxy neutral sequences and demonstrate that the conservativeness of the test can be modulated during the filtration of reference alignments. We applied the method to noncoding Human Accelerated Elements as well as open chromatin elements previously identified in 125 human tissues and cell lines to demonstrate its utility. Then, we evaluated the impact of query region length, proxy neutral sequence length, and branch count on test sensitivity and specificity. We found that the length of the query alignment can vary between 150 bp and 1 kb without affecting the estimation of selection, while for the reference alignment, we found that a length of 3 kb is adequate for proper testing. We also simulated sequence alignments under different classes of evolution and validated our ability to distinguish positive selection from relaxation of constraint and neutral evolution. Finally, we re-confirmed that a quarter of all non-coding Human Accelerated Elements are evolving by positive selection. Conclusion Here, we introduce a method we called adaptiPhy, which adds significant improvements to our earlier method that tests for branch-specific directional selection in noncoding sequences. The motivation for these improvements is to provide a more sensitive and better targeted characterization of directional selection and neutral evolution across the genome.

Aim: A growing number of studies suggest that adaptation of invasive species plays key roles in their successful establishment in novel environments. However, adaptation of invasive species to climatic conditions remains poorly characterized. This study aimed to understand the population genetic structure produced by the cotton mealybug Phenacoccus solenopsis invasion and to identify preliminary signals of selection during its range expansion. Location: China. Methods: We examined genetic structure of 11 populations across China using SNPs, microsatellites and a segment of mitochondrial cox1 gene. ADMIXTURE, STRUCTURE and DAPC were used to infer population genetic structure; the dispersal routes were reconstructed by the DIYABC; SNPs potentially related to climate adaptation were identified by using four populations differentiation methods and three environmental association methods. Results: Strong genetic differentiation was found among populations with FST values ranging from 0.097 to 0.640 based on SNPs. Populations located at the northern expansion edge exhibited the highest genetic differentiation and the lowest genetic diversity. Demographic analyses indicated that all populations were introduced from a single source population with small effective size and low recent gene flow. RDA analysis showed that climatic variables explained a higher proportion of genetic variance (43%) compared to population structure variables (15%). The top climatic variables associated with genetic differentiation were precipitation of the mean temperature of warmest quarter, mean temperature of driest quarter and isothermality. Genes related to climate candidate SNPs were mainly enriched to pathways of development, energy and xenobiotic metabolisms. Main conclusions: We found that extremely rapid and strong population genetic differentiation among populations appears to have developed after introduction in the cotton mealybug. Our study points to rapid neutral evolution and suggests possible climatic adaptation despite low genetic diversity in this invasive species.

The metacommunity concept incorporates spatial dynamics into community ecology, shedding light on how local and regional processes interact in structuring ecological communities, and to which measure they are deterministic or stochastic. We reviewed metacommunity studies on freshwater meiobenthos published since 2004, when the main principles of metacommunity theory were conceptualized. The studies (together 19) were observational, focused mainly on ostracods, and rarely on rotifers and nematodes. In accordance with general expectations, the prevalent structuring force was species sorting. Ostracods showed more dispersal limitations than nematodes and rotifers, and there was very little support for dispersal surplus. We discussed the role of body size, dispersal mode, and attachment to sediment for the meiofauna dispersal. Effects of metacommunity context (habitat connectivity, spatial extent, and environmental heterogeneity), study design (e.g., sample size), and statistical approach could not be sufficiently disentangled due to the low number of studies. Local stochasticity, consistent with neutral theory and patch dynamics, was indicated for taxa with weak specialization and metacommunities in small habitats. Our understanding of meiofaunal metacommunities is only fragmentary and it would highly benefit from direct comparisons of taxa with different species traits and between different spatial scales, and studies incorporating temporal dynamics and hypothesis-driven experiments.

In this work, we are concerned about the mean square exponential stability property for a class of stochastic neutral functional differential equations with small delay parameters. Both distributed and point delays under the neutral term are considered. Sufficient conditions are given to capture the exponential stability in mean square of the stochastic system under consideration. As an illustration, we present some practical systems to show their exponential stability which is not sensitive to small delays in the mean square sense.

In this paper, we are devoted to consider the periodic problem for the neutral evolution equation with delay in Banach space. By using operator semigroups theory and fixed point theorem, we establish some new existence theorems of periodic mild solutions for the equation. In addition, with the aid of a new integral inequality with delay, we present essential conditions on the nonlinear function to guarantee that the equation has an asymptotically stable periodic mild solution.

The Tetonius-Pseudotetonius (T-P) transition is an often-cited example of phyletic gradualism, but rates of evolution and the roles of neutral and adaptive processes across this lineage remain unclear. Linking Tetonius and Pseudotetonius, two omomyid primates, are a series of stratigraphic and morphologic intermediates revealing trends suggestive of a functional and developmental reorganization of the dentition. Notable changes involved the P3, which reduced size and became indistinguishable from the canine and I2, and the P4, which became a robust tall-cusped tooth comparable to a molar. We test two hypotheses: (1) neutral evolution can explain the observed phenotypic differences in the lineage, and (2) P4 lost developmental association with P3 and became integrated with the molars. First, we calculate the rate of evolutionary differentiation, based on the ratio between inter- and intra-species variation in length and width of P3, P4, M1, and M2 teeth, between lineage segments and over the entire lineage. We test the second hypothesis by comparing bivariate correlations between teeth within individual lineage segments. As the lineage evolved, correlations between P3 and the molars diminished, whereas correlations between P4 and the molars increased. We found evidence of varying degrees of stabilizing selection in the lengths and widths of all cheek teeth and evidence of neutral evolution in the width of P4. These results support a trend towards P4 becoming integrated into the molar morphogenetic field, and demonstrates that morphological rates of evolution, and consequently the degree of selective pressures, vary through time and between teeth.

Microsporidia have the leanest genomes among eukaryotes, and their physiological and genomic simplicity has been attributed to their intracellular, obligate parasitic life-style. However, not all microsporidia genomes are small or lean, with the largest dwarfing the smallest ones by at least an order of magnitude. To better understand the evolutionary mechanisms behind this genomic diversification, we explore here two clades of microsporidia with distinct life histories, Ordospora and Hamiltosporidium, parasitizing the same host species, Daphnia magna. Based on seven newly assembled genomes, we show that mixed-mode transmission (the combination of horizontal and vertical transmission), which occurs in Hamiltosporidium, is found to be associated with larger and AT-biased genomes, more genes, and longer intergenic regions, as compared with the exclusively horizontally transmitted Ordospora. Furthermore, the Hamiltosporidium genome assemblies contain a variety of repetitive elements and long segmental duplications. We show that there is an excess of nonsynonymous substitutions in the microsporidia with mixed-mode transmission, which cannot be solely attributed to the lack of recombination, suggesting that bursts of genome size in these microsporidia result primarily from genetic drift. Overall, these findings suggest that the switch from a horizontal-only to a mixed mode of transmission likely produces population bottlenecks in Hamiltosporidium species, therefore reducing the effectiveness of natural selection, and allowing their genomic features to be largely shaped by nonadaptive processes.

In this study, we perform a systematic analysis of evolutionary forces (i.e., mutational bias and natural selection) that shape the codon usage bias of human genes encoding proteins characterized by different flavors of intrinsic disorder. Well-structured proteins are expected to be more under control by purifying natural selection than intrinsically disordered proteins because one or few mutations (even synonymous) in the genes can result in a protein that no longer folds correctly. On the contrary, intrinsically disordered proteins are thought to evolve more rapidly than well-folded proteins, due to a relaxed purifying natural selection and an increased role of mutational bias. Using different bioinformatic tools, we find evidence that codon usage in IDPs is not only affected by a basic mutational bias, but it is also more selectively constrained than the rest of the human proteome. We speculate that intrinsically disordered proteins have not only a high tolerance to mutations but also a selective propensity to preserve their structural disorder under physiological conditions. Additionally, we confirm not only that intrinsically disordered proteins are preferentially encoded by GC-rich genes, but also that they are characterized by the highest fraction of CpG sites in the sequences, implying a higher susceptibility to methylation resulting in C-T transition mutations. Overall, our results corroborate the essential role of intrinsic disorder for the evolutionary adaptability and evolvability of proteins, offering new insight about protein evolution not only in terms of functional properties and roles in diseases but also in terms of evolutionary forces they are subjected to.

Understanding the evolution of deleterious mutations through domestication has fascinated evolutionary biologists and breeders alike. Some domesticated organisms have been reported to accumulate deleterious mutations, i.e. radical amino acid changes, through their domestication history (“cost of domestication”). However, more recent evidence paints a more complex picture of this phenomenon in different domesticated organisms. In this study, we used genomic sequences of 253 tomato accessions to investigate the evolution of deleterious mutations and genomic structural variants (SVs) through tomato domestication history. Specifically, we used phylogeny-based methods to identify deleterious mutations in the cultivated tomato as well as its closely related semi-wild and wild populations. We also explored a potential correlation between deleterious mutations and SVs. To create a functional link between deleterious alleles and phenotypes of interest for tomato breeding, we also conducted Genome-wide Association Studies (GWAS) on several fruit volatiles.Our results implicate a downward trend, throughout tomato domestication history, in diversity of most alleles, regardless of their functional impact. This suggests that demographic factors, such as bottleneck events and inbreeding, have reduced overall genetic diversity, leading to lower deleterious load and SVs as well as loss of some beneficial alleles during tomato domestication. We also detected an increase in proportions of nonsynonymous and deleterious alleles (relative to synonymous and neutral nonsynonymous alleles, respectively) during the initial stage of tomato domestication in Ecuador, although the final stage of tomato domestication in Mexico did not seem to involve such an increase. However, deleterious alleles in cultivated tomato seem to be more frequent than expected by neutral theory of molecular evolution. Additionally, for all tomato populations, we found a higher proportion of deleterious mutations in genomic regions impacted by SVs.Our analyses also revealed frequent deleterious alleles in several well-studied tomato genes, probably involved in response to biotic and abiotic stress as well as fruit development and flavor regulation. Also, through genome-wide association studies (GWAS), we discovered deleterious alleles associated with two volatiles: isobutyl acetate, which is important for tomato fruit flavor, and methyl salicylate, involved in disease resistance and regulating flowering time. To provide a practical guide for breeding experiments, we created TomDel, a public searchable database of 21,162 deleterious alleles identified in this study (https://github.com/hrazif/TomDel-0.1)

Most genetic variation in humans occurs in a pattern consistent with neutral evolution, but a small subset is maintained by balancing selection. Identifying loci under balancing selection is important not only for understanding the processes explaining variation in the genome, but also to identify loci with alleles that affect response to the environment and disease. Several genome scans using genetic variation data have identified the 5’ end of the DMBT1 gene as a region undergoing balancing selection. DMBT1 encodes the pattern-recognition glycoprotein DMBT1, also known as SALSA, gp340 or salivary agglutinin. It binds to a wide variety of pathogens through a tandemly-arranged scavenger receptor cysteine-rich (SRCR) domain, with the number of SRCR domains varying in humans. Here we use expression analysis, linkage in pedigrees, and long range single transcript sequencing, to show that the signal of balancing selection is driven by one haplotype usually carrying shorter SRCR repeats, and another usually carrying a longer SRCR repeat, within the coding region of DMBT1. The DMBT1 protein size isoform encoded by a shorter SRCR domain repeat allele showed complete loss of binding of a cariogenic and invasive Streptococcus mutans strain in contrast to the long SRCR allele. Taken together, our results suggest that balancing selection at DMBT1 is due to host-microbe interactions of encoded SRCR tandem repeat alleles.

Different models of community dynamics, such as the MacArthur–Wilson theory of island biogeography and Hubbell’s neutral theory, have given us useful insights into the workings of ecological communities. Here, we develop the niche-hypervolume concept of the community into a powerful model of community dynamics. We describe the community’s size through the volume of the hypercube and the dynamics of the populations in it through the fluctuations of the axes of the niche hypercube on different timescales. While the community’s size remains constant, the relative volumes of the niches within it change continuously, thus allowing the populations of different species to rise and fall in a zero-sum fashion. This dynamic hypercube model reproduces several key patterns in communities: lognormal species abundance distributions, 1/f-noise population abundance, multiscale patterns of extinction debt and logarithmic species-time curves. It also provides a powerful framework to explore significant ideas in ecology, such as the drift of ecological communities into evolutionary time.

One key feature of proteins that form liquid droplets by phase separation inside a cell is multivalency—the presence of multiple sites that mediate interactions with other proteins. We know little about the variation of multivalency on evolutionary time scales. Here, we investigated the long-term evolution (∼600 million years) of multivalency in fungal mRNA decapping subunit 2 protein (Dcp2), and in the FET (FUS, EWS and TAF15) protein family. We found that multivalency varies substantially among the orthologs of these proteins. However, evolution has maintained the length scale at which sequence motifs that enable protein–protein interactions occur. That is, the total number of such motifs per hundred amino acids is higher and less variable than expected by neutral evolution. To help explain this evolutionary conservation, we developed a conformation classifier using machine-learning algorithms. This classifier demonstrates that disordered segments in Dcp2 and FET proteins tend to adopt compact conformations, which is necessary for phase separation. Thus, the evolutionary conservation we detected may help proteins preserve the ability to undergo phase separation. Altogether, our study reveals that the length scale of multivalent interactions is an evolutionarily conserved feature of two classes of phase-separating proteins in fungi and vertebrates.

Structural variations (SVs) in cancer cells often impact large genomic regions with functional consequences. However, little is known about the genomic features related to the breakpoint distribution of SVs in different cancers, a prerequisite to distinguish loci under positive selection from those with neutral evolution. We developed a method that uses a generalized additive model to investigate the breakpoint proximity curves from 2,382 whole-genomes of 32 cancer types. We find that a multivariate model, which includes linear and nonlinear partial contributions of various tissue-specific features and their interaction terms, can explain up to 57% of the observed deviance of breakpoint proximity. In particular, three-dimensional genomic features such as topologically associating domains (TADs), TAD-boundaries and their interaction with other features show significant contributions. The model is validated by identification of known cancer genes and revealed putative drivers in novel cancers that have previous evidence of therapeutic relevance in other cancers.

Although many studies have shown that species richness increases from high to low latitudes (the latitudinal diversity gradient), the mechanisms responsible for generating and maintaining higher species richness in the tropics remain intensely debated. Here we investigate how the effects of temperature on speciation rates (kinetic effects) and the effects of productivity on community size (chemical effects) explain the latitudinal diversity gradient of South American small mammals. We implemented Bayesian models that integrate processes from the neutral and metabolic theories, comparing model predictions with empirical richness patterns. The neutral-metabolic model predicted the latitudinal richness gradient in South American small mammals. We found evidence that the effects of productivity on community size are more important for explaining differences in species richness than the effects of temperature on speciation rates. These results suggest that differences in species richness along latitudinal gradients are regulated primarily by the chemical effects of productivity on speciation-extinction dynamics.

The biosynthesis, structure and accumulation of secondary metabolites in plants are largely controlled by genetic factors, which can vary substantially among genotypes within a species. Here we studied a global population of Arabidopsis thaliana accessions for qualitative and quantitative variation in volatile and non-volatile secondary metabolites using essentially untargeted metabolomics. Genome-wide association (GWA) mapping revealed that metabolic variation mainly traces back to genetic variation in dedicated biosynthesis genes. Effect sizes of genetic variants, estimated by a Bayesian procedure, indicate that most of the genetic variation in the accumulation of secondary metabolites is explained by large-effect genes and defined by multiple polymorphisms. The various genetic variants resulted from independent mutation events and combined into distinctive haplotypes, which are representative for specific geographical regions. A strong relationship between the effect-size of regulatory loci, their allele frequencies and fixation index indicates that selection forces discriminate between haplotypes, resulting in different phytochemical profiles. Finally, we demonstrate that haplotype frequencies deviate from neutral theory predictions, suggesting that metabolic profiles are shaped by local adaptation and co-evolution of independent loci.

Background Different types of proteins diverge at vastly different rates. Moreover, the same type of protein has been observed to evolve with different rates in different phylogenetic lineages. In the present study we measured the rates of protein evolution in Eutheria (placental mammals) and Metatheria (marsupials) on a genome-wide basis and we propose that the gene position in the genome landscape has an important influence on the rate of protein divergence. Results We analyzed a protein-encoding gene set (n = 15,727) common to 16 mammals (12 Eutheria and 4 Metatheria). Using sliding windows that averaged regional effects of protein divergence we constructed landscapes in which strong and lineage-specific regional effects were seen on the molecular clock rate of protein divergence. Within each lineage, the relatively high rates were preferentially found in subtelomeric chromosomal regions. Such regions were observed to contain important and well-studied loci for fetal growth, uterine function and the generation of diversity in the adaptive repertoire of immunoglobulins. Conclusions A genome landscape approach visualizes lineage-specific regional differences between Eutherian and Metatherian rates of protein evolution. This phenomenon of chromosomal position is a new element that explains at least part of the lineage-specific effects and differences between proteins on the molecular clock rates.

Neutral theory predicts that genetic diversity increases with population size, yet observed levels of diversity across metazoans vary only two orders of magnitude while population sizes vary over several. This unexpectedly narrow range of diversity is known as Lewontin’s Paradox of Variation (1974). While some have suggested selection constrains diversity, tests of this hypothesis seem to fall short. Here, I revisit Lewontin’s Paradox to assess whether current models of linked selection are capable of reducing diversity to this extent. To quantify the discrepancy between pairwise diversity and census population sizes across species, I combine previously-published estimates of pairwise diversity from 172 metazoan taxa with newly derived estimates of census sizes. Using phylogenetic comparative methods, I show this relationship is significant accounting for phylogeny, but with high phylogenetic signal and evidence that some lineages experience shifts in the evolutionary rate of diversity deep in the past. Additionally, I find a negative relationship between recombination map length and census size, suggesting abundant species have less recombination and experience greater reductions in diversity due to linked selection. However, I show that even assuming strong and abundant selection, models of linked selection are unlikely to explain the observed relationship between diversity and census sizes across species.

Colorectal cancer (CRC) has a global burden of disease. Our current understanding of CRC has progressed from initial discoveries which focused on the stepwise accumulation of key driver mutations, as encapsulated in the Vogelstein model, to one in which marked heterogeneity leads to a complex interplay between clonal populations. Current evidence suggests that an initial explosion, or “Big Bang”, of genetic diversity is followed by a period of neutral dynamics. A thorough understanding of this interplay between clonal populations during neutral evolution gives insights into the roles in which driver genes may participate in the progress from normal colonic epithelium to adenoma and carcinoma. Recent advances have focused not only on genetics, transcriptomics, and proteomics but have also investigated the ecological and evolutionary processes which transform normal cells into cancer. This review first describes the role which driver mutations play in the Vogelstein model and subsequently demonstrates the evidence which supports a more complex model. This article also aims to underscore the significance of tumour heterogeneity and diverse clonal populations in cancer progression.