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The long-term persistence of a population which has suffered a bottleneck partly depends on how historical demographic dynamics impacted its genetic diversity and the accumulation of deleterious mutations. Here we provide genomic evidence for the detrimental genetic effect of a recent population bottleneck in the endangered black-faced spoonbill (Platalea minor) even after its rapid population recovery. Our population genomic data suggest that the bird’s effective population size, N, had been relatively stable (7,500-9,000) since the end of the last glacial maximum; however, a recent brief yet severe bottleneck (N= 20) around the 1940s wiped out more than 99% of its historical N in roughly three generations. By comparing it with its sister species, the royal spoonbill (P. regia) whose conservation status is of lesser concern, we found that despite a more than 15-fold population recovery since 1988, genetic drift has led to higher levels of inbreeding (7.4 times more runs of homozygosity longer than 100 Kb) in the black-faced spoonbill than in the royal spoonbill genome. Although the two spoonbills have similar levels of genome-wide nucleotide diversity and heterozygosity, because of relaxed purifying selection, individual black-faced spoonbills carry 3% more nonsynonymous substitutions than royal spoonbills each of which is 7% more deleterious. Our results imply that the persistence of a threatened species cannot be inferred from a recovery in its population. They also highlight the necessity of continually using genomic indices to monitor its genetic health and employing all possible measures to assure its long-term persistence in the ever-changing environment.

During antibiotic treatment, the evolution of bacterial pathogens is fundamentally affected by bottlenecks and varying selection levels imposed by the drugs. Bottlenecks—that is, reductions in bacterial population size—lead to an increased influence of random effects (genetic drift) during bacterial evolution, and varying antibiotic concentrations during treatment may favour distinct resistance variants. Both aspects influence the process of bacterial evolution during antibiotic therapy and thereby treatment outcome. Surprisingly, the joint influence of these interconnected factors on the evolution of antibiotic resistance remains largely unexplored. Here we combine evolution experiments with genomic and genetic analyses to demonstrate that bottleneck size and antibiotic-induced selection reproducibly impact the evolutionary path to resistance in pathogenic Pseudomonas aeruginosa, one of the most problematic opportunistic human pathogens. Resistance is favoured—expectedly—under high antibiotic selection and weak bottlenecks, but—unexpectedly—also under low antibiotic selection and severe bottlenecks. The latter is likely to result from a reduced probability of losing favourable variants through drift under weak selection. Moreover, the absence of high resistance under low selection and weak bottlenecks is caused by the spread of low-resistance variants with high competitive fitness under these conditions. We conclude that bottlenecks, in combination with drug-induced selection, are currently neglected key determinants of pathogen evolution and outcome of antibiotic treatment., Strong population bottlenecks in combination with weak antibiotic selection consistently favours the evolution of resistance across independently performed Pseudomonas aeruginosa evolution experiments.

As neuroscience literature suggests, extreme capsule is considered a whiter matter tract. Nevertheless, it is not clear whether extreme capsule itself is an association fiber pathway or only a bottleneck for other association fibers to pass. Via our review, investigating anatomical position, connectivity and cognitive role of the bundles in extreme capsule, and by analyzing data from the dissection, it can be argued that extreme capsule is probably a bottleneck for the passage of uncinated fasciculus (UF) and inferior fronto-occipital fasciculus (IFOF), and these fasciculi are responsible for the respective roles in language processing.

Population bottlenecks can reduce genetic diversity and may lead to inbreeding depression. However, some studies have provided evidence that long lifespans buffer negative genetic effects of bottlenecks. Others have cautioned that longevity might merely mask the effects of genetic drift, which will still affect long-term population viability. We used microsatellite data from actual populations of tuatara (Sphenodon punctatus) and eastern massasaugas (Sistrurus catenatus) as a starting point for simulated population declines to evaluate the performance of bottleneck tests under a range of scenarios. We quantified losses in genetic diversity for each scenario and assessed the power of commonly used tests (i.e., M-ratio, heterozygosity excess, and mode-shift) to detect known bottlenecks in these moderate- to long-lived species. Declines in genetic diversity were greater in bottlenecks simulated for eastern massasaugas, the shorter-lived species, and mode-shift and heterozygosity excess tests were more sensitive to population declines in this species. Conversely, M-ratio tests were more sensitive to bottlenecks simulated in tuatara. Despite dramatic simulated population declines, heterozygosity excess and mode-shift tests often failed to detect bottlenecks in both species, even when large losses in genetic diversity had occurred (both allelic diversity and heterozygosity). While not eliminating type II error, M-ratio tests generally performed best and were most reliable when a critical value (Mc) of 0.68 was used. However, in tuatara simulations, M-ratio tests had high rates of type I error when Mc was calculated assuming θ = 10. Our results suggest that reliance on these tests could lead to misguided species management decisions.

The research was aimed at determination of genetic variability of Prestice Black-Pied (PC) pig breed (Czech national breed and genetic resource) and to evaluate possible presence of recent bottleneck in this closed small pig population. One hundred and eighty of breeding boars were analysed by eleven tetramer Short Tandem Repeats (STR) panel specifically developed for the genotyping of breeding livestock. Despite the fact that appearance of rare alleles, which may be relatively increased after recent bottleneck, was discovered, the heterozygosity excess was not significant. The PC breed has not undergone recent bottleneck and remained at mutation-drift equilibrium.

The peregrine falcon (Falco peregrinus) has been affected by persecution, pollution, trade and habitat degradation, but it is considered a flagship conservation success story because of successful reintroductions. However, in the UK there were never formal reintroduction programmes for peregrine falcons, and it appears that UK populations – and specifically the Sussex peregrines of the English south coast – recently recovered from a population crash unassisted. To study this, we obtained samples from contemporary populations in southern England, Ireland, continental Europe, domestic-bred peregrine falcons, and from England pre-population crash. Using microsatellite and mtDNA control region data, the genetic diversity and structure, signatures of genetic bottlenecks, and potential origin of the Sussex peregrines was investigated. We found low levels of genetic diversity across all peregrine falcon populations, low but significant genetic differentiation among all populations, and a few private alleles, indicating some level of genetic structure in European peregrines. Although we could not pinpoint the origin of the Sussex peregrines, the data suggests that it is not likely to have originated from escaped domestic birds or from adjacent European populations. The results obtained here parallel other studies on peregrines elsewhere showing low genetic diversity but genetic structure. We conclude that not enough time elapsed for genetic erosion to occur due to the population bottleneck, and that at least for the Sussex peregrines there is no need for genetic conservation by wild-take and subsequent captive breeding programmes as long as current protection measures remain in place.

International audience; The Mascarene Petrel Pseudobulweria aterrima is a critically endangered seabird endemic to Reunion Island, with an extremely small population suffering several threats. Fifteen polymorphic microsatellite loci were isolated from this species to analyse genetic diversity, estimate contemporary effective population size, search for evidence of a population bottleneck and see whether results support the hypothesis that life history traits could preserve allelic diversity in small populations. Results from 22 individuals found grounded as a consequence of light pollution highlight a surprisingly high genetic diversity, an absence of inbreeding, a contemporary effective population size estimated at approximately 1211 individuals and a probable bottleneck around 10 000 generations ago. Additional studies on genetic diversity and structure from a larger number of samples are thus required to evaluate the evolutionary potential of this critically endangered species.

Evolution is a key process by which populations can adapt to novel conditions, but it is not well understood how predictable this process is. Predictability is expected to depend on the ratio of deterministic and stochastic processes that contribute to evolutionary change and this ratio is modulated by the effective population size. Smaller effective populations harbor less genetic diversity and stochastic processes are generally expected to play a larger role, leading to less repeatable evolutionary trajectories. Empirical insight into the relationship between effective population size and repeatability is limited and biased towards asexual unicellular organisms. Here, we used populations of obligately outcrossing Caenorhabditis elegans to test whether fitness increase and selection response were more heterogeneous after a moderate or strong population bottleneck compared to a scenario without bottleneck. Nematodes were exposed to a novel bacterial prey and lower temperature. Population sizes after one week of growth (as a proxy of fitness) were measured before and after 15 generations of evolution. We found that replicates across all (no/moderate/strong bottleneck) treatments evolved higher fitness and no significant difference in average or maximum fitness was found among treatments. Partitioning fitness variance among effects from selection and effects from chance showed that a strong (but not a moderate) bottleneck reduced the relative contribution of selection effects to fitness variation. However, the reduced contribution from selection did not translate to a significant reduction in the repeatability of fitness evolution. Thus, although a strong bottleneck reduced the contribution of deterministic evolutionary change, we found only marginal effects on quantitative measurements of repeatability in evolution. We conclude that the extent to which evolution is predictable may not universally depend on effective population size. IMPACT SUMMARYEvolution is a key process by which populations can adapt to novel conditions. The predictability of evolution is elusive, but the extent to which evolution is predictable is central to our understanding of evolutionary processes and to emergent applications in medicine, agriculture, and conservation. Predictability is expected to be high when evolutionary change is mainly driven by selection, because this leads to repeatable evolutionary trajectories. However, chance effects, e.g. from genetic drift, reduce repeatability. In populations with smaller effective sizes (and thus reduced genetic diversity), chance effects are generally thought to be more prevalent than in large effective populations, suggesting that effective population size influences evolutionary repeatability. Recent theoretical insights cast doubt on the universality of this relationship between evolutionary repeatability and effective population size. Thus far, empirical work testing these theoretical insights is limited to asexual species, leaving a gap in our knowledge. Therefore, we performed an evolutionary experiment using sexually reproducing populations of the nematode Caenorhabditis elegans. Populations either went through a strong or moderate bottleneck or through no bottleneck at all to create populations with different degrees of genetic variation. These populations with different histories (but similar census size) were then exposed to novel conditions. Our results showed that neither average fitness in the novel environment or the repeatability of fitness evolution were significantly lower following a bottleneck. This was despite a reduced contribution from selection and increased contribution from chance to fitness variation in populations that experienced a strong bottleneck. We therefore show that in sexually reproducing species, increased contributions from chance in populations with lower effective sizes do not necessarily affect evolutionary repeatability. This is an important novel insight that is relevant both for our fundamental understanding as well as for evolutionary forecasting applications in agriculture and conservation, which are primarily targeted at sexual species.

Genetic diversity is important for long‐term viability of a population. Low genetic diversity reduces persistence and survival of populations and increases susceptibility to diseases. Comparisons of the neutral markers with functional loci such as immune genes [Toll‐like receptors; TLR] can provide useful insights into evolutionary potential of a species and how the diversity of pathogens and selection pressures on their hosts are directly linked to their environment. In this study, we compare genetic diversity in neutral (eleven microsatellite loci) and adaptive (seven TLR loci) loci to determine genetic variation in a nonmigratory western Himalayan passerine, the black‐throated tit (Aegithalos concinnus), distributed across an elevation gradient with varying degree of pathogen‐mediated selection pressure. We further compare the diversity in TLR loci with a high‐elevation sister species, the white‐throated tit (Aegithalos niveogularis). Our results indicate a lack of population genetic structure in the black‐throated tit and signatures of a past bottleneck. In contrast, we found high diversity in TLR loci and locus‐specific (TLR7) signatures of pathogen‐mediated selection, which was comparable to diversity in the white‐throated tit. Levels of diversity at TLR5 locus corresponded very closely with neutral microsatellite variation. We found evidence of positive selection in TLR1LA, TLR5, and TLR7 loci highlighting the importance in pathogen recognition. Our finding demonstrates that reduction in neutral variation does not necessarily lead to reduction in functional genetic diversity and probably helps in revival of population in a widespread species., Comparisons of allelic richness (size corrected) using eight neutral loci and seven TLR loci (*p

Inheritance of the mitochondrial genome does not follow the rules of conventional Mendelian genetics. The mitochondrial DNA (mtDNA) is present in many copies per cell and is inherited through the maternal germline. In addition, mutations in the mtDNA will give rise to heteroplasmy, the coexistence of different mtDNA variants within a single cell, whose levels can vary considerably between cells, organs or organisms. The inheritance and subsequent accumulation of deleterious variants are the cause of severe progressive mitochondrial disorders and play a role in many other conditions, including aging, cancer and neurodegenerative disorders. Here, we discuss the processes that give rise to cell-to-cell variability in mtDNA composition, focussing on somatic mtDNA segregation and on less conventional sources of heteroplasmy: non-maternal inheritance and mtDNA recombination. Understanding how mtDNA variants and mutations emerge and evolve within an organism is of crucial importance to prevent and cure mitochondrial disease and can potentially impact more common aging-associated conditions.

Historic climate changes had always driven geographical populations of coastal plants to contract and recover dynamically, even die out completely. Species suffering from such bottlenecks usually lose intraspecific genetic diversity, but how do these events influence population subdivision patterns of coastal plants? We investigated this question in the typical coastal plant: mangrove species Aegiceras corniculatum. Inhabiting the intertidal zone of the tropical and subtropical coast of the Indo-West Pacific oceans, its populations are deemed to be greatly shaped by historic sea-level fluctuations. Using dual methods of Sanger and Illumina Solexa sequencing, we found that the 18 sampled populations were structured into two groups, namely, the “Indo-Malayan” group, comprising three subgroups (the northern South China Sea, Gulf of Bengal, and Bali), and the “Pan-Australasia” group, comprising the subgroups of the southern South China Sea and Australasia. Based on simulations using the approximate Bayesian computation method, we inferred that the southern South China Sea subgroup, which penetrates the interior of the “Indo-Malayan” group, originated from the Australasia subgroup, accompanied by a severe bottleneck event, with a spot of gene flow from both the Australasia and “Indo-Malayan” groups. Geographical barriers such as the Sundaland underlie the genetic break between Indian and Pacific Oceans, but the discontinuity between southern and northern South China Sea was originated from genetic drift in the bottleneck event. Hence, we revealed a case evidencing that the bottleneck event promoted population subdivision. This conclusion may be applicable in other taxa beyond coastal plants.

Key message Taxus baccata remnants established recently tend to contribute less to the species’ overall genetic variation than historical populations because they are subjected to a greater impact of the founder effect and genetic isolation. As tree trunk perimeter is a rough indicator of genetic variation in a population, this measure should be considered in conservation programs. Context Genetic variation within Taxus baccata (L.) populations is not associated with the current census size but correlates well with the effective size, suggesting that genetic drift intensity reflects variation in demographic histories. Aims We hypothesize that recently established populations are subjected to greater bottleneck than old remnants. Using the mean trunk perimeter as a surrogate of tree age, we test whether the demographic history and genetic variation are associated with the mean tree age. Methods Using 18 microsatellite markers, we analyze the genetic diversity and demographic history of 11 yew populations in Poland to assess the relationship between the mean trunk perimeter and the inferred genetic parameters. Results Populations reveal significant differences in levels of genetic variation and in the intensity and time of genetic bottleneck. After excluding an apparent outlier, the genetic variation is significantly greater while the bottleneck intensity lower in populations with a greater perimeter. Conclusion Due to continuous species decline and increasing fragmentation, the non-uniform contribution of yew remnants to the overall genetic variation tends to decrease together with the mean tree age. Germplasm collections for the species should take into account tree perimeter as a rough indicator of the genetic variation of a population.

In many germinating orchids that rely on fungal partners for their nutrition, fungal diversity decreases during development. We document this pattern in the in situ development of Dendrobium moniliforme, where the diversity of cultivable Tulasnella species drops from the early germinating stage (6 Tulasnella species) to that of emergence of the second leaf (2 species), with species discontinuance and no new species appearing. We investigated the functional aspects of this decay by germinating seeds in vitro with the different strains available and observed, over 60 and 120 days, a perfect match between the stages at which Tulasnella spp. occur in situ and the ability to support in vitro development to this stage. The taxonomic bottleneck during germination may result, at least in D. moniliforme, from inability of the fungus to support seedling growth beyond a specific stage. Moreover, the isolated Tulasnella strains that best supported D. moniliforme development did not cluster together phylogenetically. Thus, the interaction between partners, rather than intrinsic fungal traits, may be involved in bottleneck of fungal symbionts during orchid germination.

By the beginning of the twentieth century, many brown bear populations in Europe were on the brink of extinction due to relentless hunting pressure and habitat loss. The situation was critical also in Estonia, where in the 1920s the population went through a severe demographic bottleneck. Thanks to the protective measures implemented in the 1930s, the population started to recover. However, the process has been slow, especially in the western and southern areas of the country. To study the effects of the demographic bottleneck, we analysed 216 brown bear samples from throughout their main range in Estonia. In combination with widely used methods of population genetics, a recently developed spatially explicit analysis (distribution of residual dissimilarity, DResD) was also applied. Three genetic clusters were revealed, of which two were most likely founded by the survivors of the bottleneck. The DResD analysis revealed several contact zones near the Estonian-Russian border, suggesting that the third cluster was influenced by gene flow from the neighbouring population in Russia. The DResD analysis revealed also a male biased movement corridor along the forested south-north axis in the central part of Estonia. In comparison to other European populations, the genetic diversity of the Estonian population is relatively low and is comparable with other populations that have gone through a severe bottleneck. This work has important implications for brown bear conservation and highlights once again the dangers of excessive hunting.

We study the optimal single-step coarse toll design problem for the bottleneck model where the toll level and tolling duration have maximum acceptable upper bounds and the unconstrained optimal solution exceeds the upper bounds. We consider proportional user heterogeneity where users’ values of time and schedule delay vary in fixed proportions. Three classic coarse tolling models are studied, the ADL, Laih and braking models. In the ADL model, untolled users form a mass arrival at the bottleneck following the last tolled user. In the Laih model, there is a separated waiting facility for untolled users to wait until the toll ends. In the braking model, untolled users can choose to defer their arrival at the bottleneck to avoid paying the toll. We find that, in the ADL and the Laih models, the optimal solution chooses the maximum acceptable toll level and tolling duration. The ADL model further requires the tolling period to be started as late as possible to eliminate the queue at the toll ending moment. In the braking model, if the upper bound of the tolling duration is too small, no toll should be charged. Otherwise the optimal solution chooses the maximum acceptable tolling duration and may choose a toll price less than the maximum acceptable level.

Arctic foxes, Vulpes lagopus living on Mednyi Island suffered a drastic decline in population size in the late 1970s due to an outbreak of mange epizootic. This dramatic fall in numbers rendered the subspecies endangered, and the concomitant loss of variability resulted in a population bottleneck. Here, we investigate whether differences in cranial morphology between Mednyi Island Arctic foxes and Bering Island Arctic foxes could be attributed to the severe population bottleneck suffered by the Mednyi population in the 1970s. We used morphometric traits as proxies for genetic data to provide estimates of FST. Results show higher FST estimates for the Mednyi population than for the Bering population, which we interpret as a bottleneck signature. FST results also indicate a pattern of divergence between the two populations consistent with random genetic drift. Bottleneck detection is critical for the interpretation of the demographic history of the endangered Mednyi Island Arctic fox, with consequences for conservation management.

Mitochondrial DNA (mtDNA) is present in multiple copies within an organism. Since these copies are not identical, a single individual carries a heterogeneous population of mtDNAs, a condition known as heteroplasmy. Several factors play a role in the dynamics of the within-organism mtDNA population: among them, genetic bottlenecks, selection, and strictly maternal inheritance are known to shape the levels of heteroplasmy across mtDNAs. In Metazoa, the only evolutionarily stable exception to the strictly maternal inheritance of mitochondria is the doubly uniparental inheritance (DUI), reported in 100+ bivalve species. In DUI species, there are two highly divergent mtDNA lineages, one inherited through oocyte mitochondria (F-type) and the other through sperm mitochondria (M-type). Having both parents contributing to the mtDNA pool of the progeny makes DUI a unique system to study the dynamics of mtDNA populations. Since, in bivalves, the spermatozoon has few mitochondria (4–5), M-type mtDNA faces a tight bottleneck during embryo segregation, one of the narrowest mitochondrial bottlenecks investigated so far. Here, we analyzed the F- and M-type mtDNA variability within individuals of the DUI species Ruditapes philippinarum and investigated for the first time the effects of such a narrow bottleneck affecting mtDNA populations. As a potential consequence of this narrow bottleneck, the M-type mtDNA shows a large variability in different tissues, a condition so pronounced that it leads to genotypes from different tissues of the same individual not to cluster together. We believe that such results may help understanding the effect of low population size on mtDNA bottleneck.

The evolutionary mechanisms by which SARS-CoV-2 viruses adapt to mammalian hosts and, potentially, undergo antigenic evolution depend on the ways genetic variation is generated and selected within and between individual hosts. Using domestic cats as a model, we show that SARS-CoV-2 consensus sequences remain largely unchanged over time within hosts, while dynamic sub-consensus diversity reveals processes of genetic drift and weak purifying selection. We further identify a notable variant at amino acid position 655 in Spike (H655Y), which was previously shown to confer escape from human monoclonal antibodies. This variant arises rapidly and persists at intermediate frequencies in index cats. It also becomes fixed following transmission in two of three pairs. These dynamics suggest this site may be under positive selection in this system and illustrate how a variant can quickly arise and become fixed in parallel across multiple transmission pairs. Transmission of SARS-CoV-2 in cats involved a narrow bottleneck, with new infections founded by fewer than ten viruses. In RNA virus evolution, stochastic processes like narrow transmission bottlenecks and genetic drift typically act to constrain the overall pace of adaptive evolution. Our data suggest that here, positive selection in index cats followed by a narrow transmission bottleneck may have instead accelerated the fixation of S H655Y, a potentially beneficial SARS-CoV-2 variant. Overall, our study suggests species- and context-specific adaptations are likely to continue to emerge. This underscores the importance of continued genomic surveillance for new SARS-CoV-2 variants as well as heightened scrutiny for signatures of SARS-CoV-2 positive selection in humans and mammalian model systems., Author summary Through ongoing human adaptation, spill-back events from other animal intermediates, or with the distribution of vaccines and therapeutics, the landscape of SARS-CoV-2 genetic variation is certain to change. The evolutionary mechanisms by which SARS-CoV-2 will continue to adapt to mammalian hosts depend on genetic variation generated within and between hosts. Here, using domestic cats as a model, we show that within-host SARS-CoV-2 genetic variation is predominantly influenced by genetic drift and purifying selection. Transmission of SARS-CoV-2 between hosts is defined by a narrow transmission bottleneck, involving 2–5 viruses. We further identify a notable variant at amino acid position 655 in Spike (H655Y), which arises rapidly and is transmitted in cats. Spike H655Y has been previously shown to confer escape from human monoclonal antibodies and is currently found in over 1,000 human sequences. Overall, our study suggests species- and context-specific adaptations are likely to continue to emerge, underscoring the importance of continued genomic surveillance in humans and non-human mammalian hosts.

SUMMARYThe demographic history is a foundation of human evolutionary studies. However, the ancient demographic history during the Mid-Pleistocene is poorly investigated while it is essential for understanding the early origin of humankind. Here we present the fast infinitesimal time coalescent (FitCoal) process, which allows the analytical calculation of the composite likelihood of a site frequency spectrum and provides the precise inference of demographic history. We apply it to analyze 3,154 present-day human genomic sequences. We find that African populations have passed through a population super bottleneck, a small effective size of approximately 1,280 breeding individuals between 930 and 813 thousand years ago. Further analyses confirm the existence of the super bottleneck on non-African populations although it cannot be directly inferred. This observation, together with simulation results, indicates that confounding factors, such as population structure and selection, are unlikely to affect the inference of the super bottleneck. The time interval of the super bottleneck coincides with a gap in the human fossil record in Africa and possibly marks the origin ofHomo heidelbergensis. Our results provide new insights into human evolution during the Mid-Pleistocene.

An early analysis of SARS-CoV-2 deep-sequencing data that combined epidemiological and genetic data to characterize the transmission dynamics of the virus in and beyond Austria concluded that the size of the virus’s transmission bottleneck was large – on the order of 1000 virions. We performed new computational analyses using these deep-sequenced samples from Austria. Our analyses included characterization of transmission bottleneck sizes across a range of variant calling thresholds and examination of patterns of shared low-frequency variants between transmission pairs in cases where de novo genetic variation was present in the recipient. From these analyses, among others, we found that SARS-CoV-2 transmission bottlenecks are instead likely to be very tight, on the order of 1-3 virions. These findings have important consequences for understanding how SARS-CoV-2 evolves between hosts and the processes shaping genetic variation observed at the population level.

A pivotal debate on biodiversity conservation is whether the scarce budgets must be invested in critically endangered taxa or in those with higher chances to survive due to larger population sizes. Addressing the fate of extremely bottlenecked taxa is an ideal way to test this idea, but empirical cases are surprisingly limited. The reintroduction of the extinct-in-the-wild Alagoas curassow (Pauxi mitu) by Brazilian scientists in September 2019 added to the two other known cases of survival to bottlenecks of only two or three individuals. We exploit the reasons why this species has survived, and we report how investments to rescue the Alagoas curassow resulted in the protection of many other taxa, suggesting that in the face of the dramatic number of extinctions expected for the Anthropocene, integration must prevail over a choice.

The present study was performed to reveal genetic diversity and bottleneck of Turkish and Algerian autochthonous sheep breeds using fifteen microsatellites marker recommended by FAO (2011). Animal material for the study was consisted of 180 head sheep raised in different location in Turkey and Algeria. A total of 349 alleles were detected from fifteen markers studied. The mean number of alleles (23.26), observed heterozygosity (0.76) and polymorphic information content (0.89) findings indicated that noticeable genetic variability in sheep population studied. Fourteen out of the sixteen microsatellite markers studied had a positive FIS value. The mean value of FIS was 0.061.The infinite allele model (IAM), two-phase mutation model (TPM) and stepwise mutation model (SMM) in the Bottleneck software were used to check genetic bottleneck. The Lshaped curve obtained from analyze indicates absence of bottleneck in studied sheep population raised in Turkey and Algeria. Consequently, it can be said that these results will help to develop conservation and breeding strategies for the sheep population.

Giant clams are an important ecological component of coral reefs in the Red Sea, as they enhance the reef’s productivity and provide habitat that can increase diversity. Three species of giant clams, namely Tridacna maxima, T. squamosa, and T. squamosina have been described within the Red Sea. However, due to its scarcity, information about the distribution and ecology of T. squamosina in the Saudi Arabian Red Sea is still lacking. This study used DNA barcoding to confirm the identity of the rare T. squamosina in the Farasan Banks. Six mtCOI fragments (500 bp) of T. squamosina were successfully amplified using the SQUA-primers for the first time. We used our data along with 18 reference sequences (16S) from the online database to assess the genetic diversity and population structure of T. squamosina. Low genetic diversity among the T. squamosina populations inferred from the 16S sequences implies a recent bottleneck for this species, which is supported by their historically higher diversity based on the coalescent-based estimator. Given the small population abundance and limited genetic variation of T. squamosina, it may warrant immediate local protections such as biobanking and fertility preservation programs as well as effective integrated coastal zone management plans.

Many positive-sense RNA viruses, especially those infecting plants, are known to experience stringent, stochastic population bottlenecks inside the cells they invade, but exactly how and why these populations become bottlenecked are unclear. A model proposed ten years ago advocates that such bottlenecks are evolutionarily favored because they cause the isolation of individual viral variants in separate cells. Such isolation in turn allows the viral variants to manifest the phenotypic differences they encode. Recently published observations lend mechanistic support to this model and prompt us to refine the model with novel molecular details. The refined model, designated Bottleneck, Isolate, Amplify, Select (BIAS), postulates that these viruses impose population bottlenecks on themselves by encoding bottleneck-enforcing proteins (BNEPs) that function in a concentration-dependent manner. In cells simultaneously invaded by numerous virions of the same virus, BNEPs reach the bottleneck-ready concentration sufficiently early to arrest nearly all internalized viral genomes. As a result, very few (as few as one) viral genomes stochastically escape to initiate reproduction. Repetition of this process in successively infected cells isolates viral genomes with different mutations in separate cells. This isolation prevents mutant viruses encoding defective viral proteins from hitchhiking on sister genome-encoded products, leading to the swift purging of such mutants. Importantly, genome isolation also ensures viral genomes harboring beneficial mutations accrue the cognate benefit exclusively to themselves, leading to the fixation of such beneficial mutations. Further interrogation of the BIAS hypothesis promises to deepen our understanding of virus evolution and inspire new solutions to virus disease mitigation.

As neuroscience literature suggests, the extreme capsule is considered a white matter tract. Nevertheless, it is not clear whether the extreme capsule itself is an association fiber pathway or only a bottleneck for other association fibers to pass. Via our review, investigating anatomical position, connectivity, and cognitive role of the extreme capsule, and by analyzing data from the dissection, it can be argued that extreme capsule is probably a bottleneck for the passage of uncinated fasciculus (UF) and inferior fronto occipital fasciculus (IFOF), and its different role of language processing is due to various tracts that pass it through.

Heteroplasmy is the presence of variable mitochondrial DNA (mtDNA) within the same individual. The dynamics of heteroplasmy allele frequency among tissues of the human body is not well understood. Here, we measured allele frequency at heteroplasmic sites in two to eight hairs from each of 11 humans using next-generation sequencing. We observed a high variance in heteroplasmic allele frequency among separate hairs from the same individual—much higher than that for blood and cheek tissues. Our population genetic modelling estimated the somatic bottleneck during embryonic follicle development of separate hairs to be only 11.06 (95% confidence interval 0.6–34.0) mtDNA segregating units. This bottleneck is much more drastic than somatic bottlenecks for blood and cheek tissues (136 and 458 units, respectively), as well as more drastic than, or comparable to, the germline bottleneck (equal to 25–32 or 7–10 units, depending on the study). We demonstrated that hair undergoes additional genetic drift before and after the divergence of mtDNA lineages of individual hair follicles. Additionally, we showed a positive correlation between donor's age and variance in heteroplasmy allele frequency in hair. These findings have important implications for forensics and for our understanding of mtDNA dynamics in the human body. This article is part of the theme issue ‘Linking the mitochondrial genotype to phenotype: a complex endeavour’.

Biological invasions represent an important component of global change, with potentially huge detrimental effects on native biological biodiversity and ecosystems. Knowledge about invasion history provides information about the invasion process and the origin and genetic composition of invading populations. To clarify the source and invasive routes of a successful world-wide invader, the veined rapa whelk, Rapana venosa, genetic variability of samples from five representative native populations from coasts of Japan and China and 13 worldwide invasive populations was analyzed using 11 nuclear microsatellite loci. A dramatic decrease of genetic variation was detected in the invasive populations compared with the native populations. The results demonstrated that R. venosa was capable of establishing itself in many areas despite a dramatic genetic bottleneck, suggesting that a remarkable reduction of genetic diversity is not a limiting factor for short-term success of this invasive species. Considering the lack of mitochondrial variation previously observed in the invasive populations, the dramatic genetic bottleneck and the allele distribution detected using microsatellites suggested that the original introduced Black Sea population could have been founded by very few individuals, perhaps only a single female and a single male. The initial invasive Black Sea population was likely an accidental introduction from Japan, and then invaded the Adriatic Sea by range expansion, which served as a source for subsequent invasive populations in Europe and America by various transport vectors. In addition, microsatellite alleles in the invasive populations showed a tendency to mutate with the addition or deletion of a single repeat, which is consistent with the stepwise mutation model. Our findings provide a good example of how an aquatic invader with a drastic genetic bottleneck and very low genetic diversity rapidly expands its geographical range.

COVID-19 vaccines emerging from different platforms differ in efficacy, duration of protection, and side effects. To maximize the benefits of vaccination, we explored the utility of employing a heterologous prime-boost strategy in which different combinations of the four types of leading COVID-19 vaccine candidates that are undergoing clinical trials in China were tested in a mouse model. Our results showed that sequential immunization with adenovirus vectored vaccine followed by inactivated/recombinant subunit/mRNA vaccine administration specifically increased levels of neutralizing antibodies and promoted the modulation of antibody responses to predominantly neutralizing antibodies. Moreover, a heterologous prime-boost regimen with an adenovirus vector vaccine also improved Th1-biased T cell responses. Our results provide new ideas for the development and application of COVID-19 vaccines to control the SARS-CoV-2 pandemic.

We investigated genetic variation at 37 newly-developed microsatellite loci in populations of the tsetse flyGlossina fuscipes fuscipescaptured from the upper and lower reaches of a single hydrographical network within an endemic Human African Trypanosomiasis focus. Our primary aim was to assess the impact of vector control using insecticide-treated baits (Tiny Targets) on genetic structure. We initially usedSTRUCTUREto delineate geographical boundaries of two stable ‘ancestral’ reference populations without any history of vector control but marked for either vector control (‘intervention’) or no control (‘non-intervention’). We then used theADMIXTUREmodel to assess genetic divergence in temporal populations collected after vector control implementation. We applied the Linkage Disequilibrium method to explicitly measure spatial and temporal changes in effective population size (Ne). We observed a significant reduction inNecoincident with vector control, whereasNeremained stable in the non-intervention area. Our empirical findings show how classical population genetics approaches detected within a short period of time, a significant genetic bottleneck associated with vector control, and opens up the possibility of using routine genomic surveillance. We have also generated a resource of new genetic markers for studies on the population genetics of tsetse at finer-scale resolution.FundingThis work was funded through a Wellcome Trust Master’s Fellowship in Public Health and Tropical Medicine awarded to Allan Muhwezi (103268/Z/13/Z).

In the Origin of Species, Darwin wrote “The affinities of all the beings of the same class have sometimes been represented by a great tree. I believe this simile largely speaks the truth.” Modern comparative genomics has revealed that the intuition of Darwin was correct. A set of highly conserved genes and cellular functions indicate that all life on Earth is related by common ancestry. These genes were inherited from the last universal common ancestor or LUCA. The functions coded by these genes suggest that LUCA was a rather complex cell already endowed with a genetic code and a protein translation apparatus. One of the questions regarding the nature of LUCA is whether it was a hyperthermophile. Here, we review recent evidence derived from the molecular fossil record on the temperature preferences of LUCA. We suggest that current evidence on the nature of LUCA and its immediate predecessors are compatible with the impact-bottleneck hypothesis – the proposal that during the early evolution of life, a meteoritic impact eliminated all life on Earth except for prokaryotes capable of living at high temperatures. If our interpretation of the data is correct, it would indicate that early life was resilient to the rough environmental conditions of the Archean, a relevant result from the point of view of astrobiology because it would exemplify the persistence of life in harsh environments.

The first-best solution for a transportation bottleneck is to impose a first-best peak-load toll that varies continuously over time, reaching its maximum value at the most desirable crossing time. This eliminates all wasteful queueing. With homogeneous values of time, the private costs of consumers are unchanged, but the large maximum value of the first-best toll may make it politically infeasible. In this paper, I consider continuously time-varying partial peak-load tolls that have a much lower maximum value, but which still achieve a large fraction of the efficiency gain of the first-best toll. With heterogeneous values of time, a partial peak-load toll can leave all consumers with unchanged or decreased private costs even when the first-best toll does not do this.

This study is the maiden attempt for genetic characterization of the Purnathadi, a phenotypically distinct buffalo population of the western Vidarbha region of Maharashtra and to explore genetic diversity using STR markers. A total of 48 unrelated Purnathadi buffaloes from the entire native tract were genotyped using a battery of 25 heterologous microsatellite markers. 5' end of forward primer of each microsatellite marker was labeled with one of the fluorescent dyes, viz., FAM (Blue), VIC (Green), NED (Yellow) or PET (Red) to assess the fragment length of genotyped PCR product with automated DNA sequencer (ABI 3100). 23 microsatellite loci (except ETH003 and ILSTS030) amplified successfully and adequately high allelic diversity (observed: 0.615 ± 0.043 and expected: 0.655 ± 0.037) was reported with 162 distinct microsatellite alleles. Sufficiently high Shannon index and PIC indicated the suitability of markers to evaluate genetic diversity in Purnathadi buffaloes. Within-population inbreeding estimates (

Pakistan is rich in sheep genetic resources. Balkhi, Hashtnagri, and Michni are neighboring sheep populations found in Khyber Pakhtunkhwa province of Pakistan. In this study, we analyzed the genetic structures and bottleneck incidents within these sheep populations using 31 microsatellite DNA markers. Total numbers of 116, 100, and 95 alleles, with average numbers of 3.20, 3.26, and 3.74 alleles per locus were observed, respectively, in Balkhi, Hashtnagri, and Michni population. Mean observed heterozygosity was 0.402 in Balkhi, 0.416 in Hashtnagri, and 0.522 in Michni population. All the three sheep populations showed significantly high inbreeding. Michni population was found to be in mutation drift equilibrium, showing the absence of genetic bottleneck. The data of Balkhi and Hashtnagri indicated the presence of genetic bottleneck in these populations. These results suggest a moderate level of genetic diversity within Michni population that may be useful for breed improvement programs. Hashtnagri and Balkhi populations having low within breed genetic variability may contain some valuable characteristics that need to be conserved.

Cancer stem cells (CSCs) are responsible for cancer initiation, drug resistance, and aggressive tumor phenotypes. Our lab has established a novel method to induce CSCs from induced pluripotent stem (iPS) cells in a microenvironment mimicking chronic inflammation. The converted cells acquired CSC characteristics and developed malignant tumors. Recently, we demonstrated that nonmutagenic chemical inhibitors accelerated the conversion of mouse iPS (miPS) cells into CSCs. Here, we investigated the effects of AZD-6244, a MEK1/2-specific inhibitor, on the conversion of iPS cells into CSCs. The miPS cells were cultured for one week in the presence of the conditioned medium (CM) of Lewis lung carcinoma (LLC) cells and AZD-6244, PD0325901, a pan-MEK inhibitor, or GDC-0879, a B-Raf inhibitor. As a result, AZD-6244 enhanced the conversion of iPS cells into CSCs and upregulated AKT phosphorylation as same as GDC-0879 and PD0325901. The converted cells maintained their self-renewal ability and stemness gene expression. The expression of the CSC markers CD24, CD44 and CD133 was higher in the cells cultured with MAPK inhibitors than in those cultured without MAPK inhibitors. Moreover, converted cells gained migration and invasion abilities assessed by in vitro assays. Therefore, the inhibition of MEK1/2 was found to be critical for the conversion of normal stem cells into CSCs in the tumor-inducing microenvironment.

Developing a mechanistic understanding of plant growth regulation requires studying cell division and cell expansion in addition to molecular studies. A recent time-lapse confocal microscopy study (Fox, S. et al. PLoS Biol. 2018:16;e2005952) quantifying these processes in individual cells in growing organs in combination with multiscale modeling provides profound new insights into the regulatory mechanisms involved.

In this study, we investigated a bottleneck effect on an RRV population that may drastically affect the viral population structure. RRV populations were serially passaged under two levels of a bottleneck effect, which exemplified human-to-human transmission. As a result, the genetic diversity and specific growth rate of RRV populations increased under the stronger bottleneck effect, which implied that a bottleneck created a new space in a population for minor mutants originally existing in a hidden layer, which includes minor mutations that cannot be distinguished from a sequencing error. The results of this study suggest that the genetic drift caused by a bottleneck in human-to-human transmission explains the random appearance of new genetic lineages causing viral outbreaks, which can be expected according to molecular epidemiology using next-generation sequencing in which the viral genetic diversity within a viral population is investigated., RNA viruses form a dynamic distribution of mutant swarms (termed “quasispecies”) due to the accumulation of mutations in the viral genome. The genetic diversity of a viral population is affected by several factors, including a bottleneck effect. Human-to-human transmission exemplifies a bottleneck effect, in that only part of a viral population can reach the next susceptible hosts. In the present study, two lineages of the rhesus rotavirus (RRV) strain of rotavirus A were serially passaged five times at a multiplicity of infection (MOI) of 0.1 or 0.001, and three phenotypes (infectious titer, cell binding ability, and specific growth rate) were used to evaluate the impact of a bottleneck effect on the RRV population. The specific growth rate values of lineages passaged under the stronger bottleneck (MOI of 0.001) were higher after five passages. The nucleotide diversity also increased, which indicated that the mutant swarms of the lineages under the stronger bottleneck effect were expanded through the serial passages. The random distribution of synonymous and nonsynonymous substitutions on rotavirus genome segments indicated that almost all mutations were selectively neutral. Simple simulations revealed that the presence of minor mutants could influence the specific growth rate of a population in a mutant frequency-dependent manner. These results indicate a stronger bottleneck effect can create more sequence spaces for minor sequences. IMPORTANCE In this study, we investigated a bottleneck effect on an RRV population that may drastically affect the viral population structure. RRV populations were serially passaged under two levels of a bottleneck effect, which exemplified human-to-human transmission. As a result, the genetic diversity and specific growth rate of RRV populations increased under the stronger bottleneck effect, which implied that a bottleneck created a new space in a population for minor mutants originally existing in a hidden layer, which includes minor mutations that cannot be distinguished from a sequencing error. The results of this study suggest that the genetic drift caused by a bottleneck in human-to-human transmission explains the random appearance of new genetic lineages causing viral outbreaks, which can be expected according to molecular epidemiology using next-generation sequencing in which the viral genetic diversity within a viral population is investigated.

Population bottlenecks leading to a drastic reduction of the population size are common in the evolutionary dynamics of natural populations; their occurrence is known to have implications for genome evolution due to genetic drift, the consequent reduction in genetic diversity and the rate of adaptation. Nevertheless, an empirical characterization of the effect of population bottleneck size on evolutionary dynamics of bacteria is currently lacking. Here we show that selective conditions have a stronger effect on the evolutionary history of bacteria in comparison to genetic drift following population bottlenecks. We evolvedEscherichia colipopulations under three different population bottlenecks (small, medium, large) in two temperature regimes (37°C and 20°C). We find a high genetic diversity in the large in comparison to the small bottleneck size. Nonetheless, the cold temperature led to reduced genetic diversity in all bottleneck sizes, hence, the temperature has a stronger effect on the genetic diversity in comparison to the bottleneck size. A comparison of the fitness gain among the evolved populations reveals a similar pattern where the temperature has a significant effect on the fitness. Our study demonstrates that population bottlenecks are an important determinant of the evolvability in bacteria; their consequences depend on the selective conditions and are best understood via their effect on the standing genetic variation.