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mtDNA is a multicopy genome. When mutations exist, they can affect a varying proportion of the mtDNA present within every cell (heteroplasmy). Heteroplasmic mtDNA mutations can be maternally inherited, but the proportion of mutated alleles differs markedly between offspring within one generation. This led to the genetic bottleneck hypothesis, explaining the rapid changes in allele frequency seen during transmission from one generation to the next. Although a physical reduction in mtDNA has been demonstrated in several species, a comprehensive understanding of the molecular mechanisms is yet to be revealed. Several questions remain, including the role of selection for and against specific alleles, whether all bottlenecks are the same, and precisely how the bottleneck is controlled during development. Although originally thought to be limited to the germline, there is evidence that bottlenecks exist in other cell types during development, perhaps explaining why different tissues in the same organism contain different levels of mutated mtDNA. Moreover, tissue-specific bottlenecks may occur throughout life in response to environmental influences, adding further complexity to the situation. Here we review key recent findings, and suggest ways forward that will hopefully advance our understanding of the role of mtDNA in human disease.

Many congestion charging projects charge traffic only within part of a day with predetermined congestion tolls. Demand peaks have been witnessed just around the time when the charge jumps up or down. Such peaks may not be desirable, in particular (a) when the resulting peaks are much higher than available capacities; (b) traffic speeding up to get into the charging zone causes more incidents just before the toll rises up to a higher level; or (c) traffic slowing down or parking on the roadside decreases road traffic throughput just before the toll falls sharply. We term these types of demand peaks ‘boundary effects’ of congestion charging. This paper investigates these effects in a bottleneck scenario and aims to design charging schemes that reduce undesired demand peaks. For this purpose, we observe and analyse the boundary effects utilising a bottleneck model under three types of toll profiles that are indicative of real charging schemes. The first type maintains a constant toll across the charging period, the second type allows the toll to increase from zero to a given maximum level and then decrease back to zero and the third type allows the toll to rise from zero to a given maximum level, remain at this level for a fixed period and then fall down to zero. This investigation shows that all three types of toll profiles can produce greater boundary peak demands than the bottleneck capacity. A significant contribution of this work is that instead of designing an optimal traffic congestion pricing scheme we analyse how existing sub-optimal congestion pricing schemes could be improved and suggest how observed problems may be overcome. Hence, we propose a set of extra requirements to supplement existing principles or requirements for design and implementation of congestion charging, which aim to reduce the adverse consequences of boundary effects. Concluding remarks are made on implications of this investigation for the improvement of existing congestion charging projects and for future research. First published online 13 July 2015

Demographic bottlenecks that occur when populations fluctuate in size erode genetic diversity, but that diversity can be recovered through immigration. Connectivity among populations and habitat patches in the landscape enhances immigration and should in turn facilitate recovery of genetic diversity after a sudden reduction in population size. For the conservation of genetic diversity, it may therefore be particularly important to maintain connectivity in the face of factors that increase demographic instability, such as climate change. However, a direct link between connectivity and recovery of genetic diversity after a demographic bottleneck has not been clearly demonstrated in an empirical system. Here, we show that connectivity of habitat patches in the landscape contributes to the maintenance of genetic diversity after a demographic bottleneck. We were able to monitor genetic diversity in a network of populations of the alpine butterfly, Parnassius smintheus, before, during, and after a severe reduction in population size that lasted two generations. We found that allelic diversity in the network declined after the demographic bottleneck but that less allelic diversity was lost from populations occupying habitat patches with higher connectivity. Furthermore, the effect of connectivity on allelic diversity was important during the demographic recovery phase. Our results demonstrate directly the ability of connectivity to mediate the rescue of genetic diversity in a natural system.

Historic climate changes drive 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? Here, 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 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 the approximate Bayesian computations and Stairway Plot, 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.

The countries of Central America and the island of Hispaniola have set the goal of eliminating malaria in less than a decade. Although efforts to reduce the malaria burden in the region have been successful, there has been an alarming increase in cases in the Nicaraguan Moskitia since 2014. The continuous decrease in cases between 2000 and 2014, followed by a rapid expansion from 2015 to the present, has generated a potential bottleneck effect in the populations of Plasmodium spp. Consequently, this study aimed to evaluate the genetic diversity of P. falciparum and the decrease in allelic richness in this population. The polymorphic regions of the pfmsp-1 and pfmsp-2 genes of patients with falciparum malaria from Honduras and Nicaragua were analyzed using nested PCR and sequencing. Most of the samples were classified into the K1 allelic subfamily of the pfmsp-1 gene and into the 3D7 subfamily of the pfmsp-2 gene. Despite the low genetic diversity found, more than half of the samples presented a polyclonal K1/RO33 haplotype. No sequence polymorphisms were found within each allelic subfamily. This study describes a notable decrease in the genetic diversity of P. falciparum in the Moskitia region after a bottleneck phenomenon. These results will be useful for future epidemiological investigations and the monitoring of malaria transmission in Central America.

Background Diabetes induces many complications including reduced fertility and low oocyte quality, but whether it causes increased mtDNA mutations is unknown. Methods We generated a T2D mouse model by using high-fat-diet (HFD) and Streptozotocin (STZ) injection. We examined mtDNA mutations in oocytes of diabetic mice by high-throughput sequencing techniques. Results T2D mice showed glucose intolerance, insulin resistance, low fecundity compared to the control group. T2D oocytes showed increased mtDNA mutation sites and mutation numbers compared to the control counterparts. mtDNA mutation examination in F1 mice showed that the mitochondrial bottleneck could eliminate mtDNA mutations. Conclusions T2D mice have increased mtDNA mutation sites and mtDNA mutation numbers in oocytes compared to the counterparts, while these adverse effects can be eliminated by the bottleneck effect in their offspring. This is the first study using a small number of oocytes to examine mtDNA mutations in diabetic mothers and offspring. Electronic supplementary material The online version of this article (10.1186/s12958-018-0423-1) contains supplementary material, which is available to authorized users.

In spite of many genetic studies that contributed for a deep knowledge about the peopling of the Americas, no consensus has emerged about important parameters such as the effective size of the Native Americans founder population. Previous estimates based on genomic datasets may have been biased by the use of admixed individuals from Latino populations, while other recent studies using samples from Native American individuals relied on approximated analytical approaches. In this study we use resequencing data for nine independent regions in a set of Native American and Siberian individuals and a full-likelihood approach based on isolation-with-migration scenarios accounting for recent flow between Asian and Native American populations. Our results suggest that, in agreement with previous studies, the effective size of the Native American population was small, most likely in the order of a few hundred individuals, with point estimates close to 250 individuals, even though credible intervals include a number as large as ~4,000 individuals. Recognizing the size of the genetic bottleneck during the peopling of the Americas is important for determining the extent of genetic markers needed to characterize Native American populations in genome-wide studies and to evaluate the adaptive potential of genetic variants in this population.

Taxus yunnanensis,which is an endangered tree that is considered valuable because it contains the effective natural anticancer metabolite taxol and heteropolysaccharides, has long suffered from severe habitat fragmentation. In this study, the levels of genetic diversity in two populations of 136 individuals were analyzed based on eleven polymorphic microsatellite loci. Our results suggested that these two populations were characterized by low genetic diversity (NE= 2.303/2.557;HO= 0.168/0.142;HE= 0.453/0.517), a population bottleneck, a low effective population size (Ne = 7/9), a high level of inbreeding (FIS= 0.596/0.702), and a weak, but significant spatial genetic structure (Sp = 0.001,b= −0.001*). Habitat fragmentation, seed shadow overlap and limited seed and pollen dispersal and potential selfing may have contributed to the observed gene tic structure. The results of the present study will enable development of practical conservation measures to effectively conserve the valuable genetic resources of this endangered plant.

This note demonstrates how the redistribution of revenue from a Pigouvian policy can distort incentives and handicap the social objectives of the policy by creating a moral hazard problem. Based on the Levinson (2005) game theory model, I develop a three-player bottleneck congestion game that emulates a repeated prisoner’s dilemma and derive efficient tolls. This conceptual game demonstrates the distortionary effects from a revenue-neutral toll policy with lump-sum revenue redistribution and the equity-efficiency tradeoff.

The past studies of postglacial recolonization patterns in high latitude regions have revealed a significant role of dispersal capacity in shaping the genetic diversity and population structure of temperate trees. However, most of these studies have focused on species with long-distance dispersal followed by exponential population growth and were therefore unable to reveal the patterns in the case of a gradual expansion. Here we studied the impacts of postglacial range expansions on the distribution of genetic diversity in the Manchurian walnut (Juglans mandshurica), a common tree of East Asian cool-temperate deciduous forests that apparently lacks long-distance seed dispersal ability. The genetic diversity and structure of 19 natural walnut populations in Northeast China and the Korean Peninsula were examined using 17 nuclear simple sequence repeat (SSR) loci. Potential habitats under current and past climatic conditions were predicted using the ecological niche modelling (ENM) method. Bayesian clustering analysis revealed three groups, which were inferred to have diverged through multiple glacial-interglacial cycles in multiple refugia during the Quaternary Period. ENM estimated a southward range shift at the LGM, but high suitability scores still occurred in the western parts of the Changbai Mountains (Northeast China), the Korean peninsula and the exposed seafloor of the Yellow Sea. In contrast to most other cool-temperate trees co-occurring in the same region, the Manchurian walnut did not show any evidence of a population bottleneck, loss of genetic diversity or isolation by distance during the postglacial expansion. Our study clearly indicates that current northern populations originated from one glacial lineage and recolonization via a gradually advancing front due to the lack of a long-distance seed dispersal mechanism led to no latitudinal decrease in genetic diversity.

The opening of the Suez Canal in 1869 led to a massive influx of Red Sea species that invaded the Mediterranean; this was termed ‘Lessepsian migration'. Among these species was a species of lizardfish, identified by some authors as Saurida undosquamis and by others as S. macrolepis. Recently, the Red Sea and the Mediterranean populations were described according to external characteristics as a unique taxon, Saurida lessepsianus. Our molecular study confirms this finding and determines that all previous records of S. undosquamis and S. macrolepis in the Red Sea and the Mediterranean are misidentifications of S. lessepsianus. The Mediterranean population of S. lessepsianus exhibits a lower genetic variability than that of the Red Sea population, suggesting a bottleneck effect.

Cynomolgus macaques (Macaca fascicularis) were introduced to the island of Mauritius by humans around the 16th century. The unique demographic history of the Mauritian cynomolgus macaques provides the opportunity to not only examine the genetic background of well-established nonhuman primates for biomedical research but also understand the effect of an extreme population bottleneck on the pattern of polymorphisms in genomes. We sequenced the whole genomes of six Mauritian cynomolgus macaques and obtained an average of 20-fold coverage of the genome sequences for each individual. The overall level of nucleotide diversity was 23% smaller than that of the Malaysian cynomolgus macaques, and a reduction of low-frequency polymorphisms was observed. In addition, we also confirmed that the Mauritian cynomolgus macaques were genetically closer to a representative of the Malaysian population than to a representative of the Indochinese population. Excess of nonsynonymous polymorphisms in low frequency, which has been observed in many other species, was not very strong in the Mauritian samples, and the proportion of heterozygous nonsynonymous polymorphisms relative to synonymous polymorphisms is higher within individuals in Mauritian than Malaysian cynomolgus macaques. Those patterns indicate that the extreme population bottleneck made purifying selection overwhelmed by the power of genetic drift in the population. Finally, we estimated the number of founding individuals by using the genome-wide site frequency spectrum of the six samples. Assuming a simple demographic scenario with a single bottleneck followed by exponential growth, the estimated number of founders (∼20 individuals) is largely consistent with previous estimates.

The plant microbiome may be bottlenecked at the level of endophytes of individual seeds. Strong defense of developing seeds is predicted by optimal defense theory, and we have experimentally demonstrated exclusionary interactions among endophytic microbes infecting individual seeds of Centaurea stoebe. Having found a single, PDA-culturable microbe per seed or none in an exploratory study with Centaurea stoebe, we completed a more extensive survey of an additional 98 plant species representing 39 families. We again found that individual, surface-sterilized seeds of all species hosted only one PDA-culturable bacterial or fungal endophyte per seed, or none. PDA-unculturables were not determined but we expect them to also be bottlenecked in individual seeds, as they too should be governed by exclusionary interactions. If the bottleneck were confirmed with high-throughput sequencing of individual seeds then it would make sense to further investigate the Primary Symbiont Hypothesis (PSH). This includes the prediction that primary symbionts (i.e., the winners of the exclusionary battles among seed endophytes) have strong effects on seedlings depending on symbiont identity.

Background. The captive cetacean industry is very profitable and popular worldwide, focusing mainly on leisure activities such as “Swim-with-dolphins” (SWD) programs. However, there is a concern for how captivity could affect the bottlenose dolphin Tursiops truncatus, which in nature is a highly social and widespread species. To date, there is little information regarding to the impact of restricted population size on their genetic structure and variability. Methods. The aim of this study was to estimate the genetic diversity of a confined population of T. truncatus, composed of wild-born (n=25) from Cuba, Quintana Roo and Tabasco, and captive-born (n=24) dolphins in southern Mexico, using the hypervariable portion of the mitochondrial DNA and ten nuclear microsatellite markers: TexVet3, TexVet5, TexVet7, D18, D22, Ttr19, Tur4_80, Tur4_105, Tur4_141 and GATA098. Results. Exclusive mtDNA haplotypes were found in at least one individual from each wild-born origin populations and in one captive-born individual; total mean haplotype and nucleotide diversities were 0.912 (±0.016) and 0.025 (±0.013) respectively. At microsatellite loci, low levels of genetic diversity were found with a mean number of alleles per locus of 4 (±2.36), and an average expected heterozygosity over all loci of 0.544 (±0.163). Measures of allelic richness and effective number of alleles were similar between captive-born and wild-born dolphins. No significant genetic structure was found with microsatellite markers, whereas the mtDNA data revealed a significant differentiation between wild-born organisms from Cuba and Quintana ROO. Discussion. Data analysis suggests the occurrence of a recent genetic bottleneck in the confined population probably because of a strong founder effect, given that only a small number of dolphins with a limited fraction of the total species genetic variation were selected at random to start this captive population. The results herein provide the first genetic baseline information on a captive bottlenose dolphin population in Mexico.

Summary The peptide-loading complex is a bottleneck in antigen presentation by major histocompatibility complex (MHC) class I molecules. While the structures of its individual components were known, the recent report of the 7.2 A structure of the entire complex now fits them into their functional context, explaining this monumental step in antigen acquisition by MHC class I molecules.

Genome sequences from archaeological sorghum plants raise questions about our understanding of plant domestication.

International audience; As biological invasions, intentional introductions often result in a loss of genetic diversity in the new founder populations. In classical biological control programs, natural enemies introduced into novel environments are likely to suffer from population bottlenecks. Unlike invasive populations, individuals for biological control are typically kept in quarantine during several generations before being released in the field. This procedure reduces further the effective population size of the introduced populations, which thus increases the effects of inbreeding and genetic drift, resulting in a greater loss of genetic diversity. This study addresses the genetic consequences of the introduction of the parasitoid wasp Aphidius ervi, a successful biocontrol agent of important aphid target-pests in Chile. This was assessed by examining the genetic diversity and differentiation at nuclear and mitochondrial genetic markers in terms of (1) the magnitude of the genetic diversity loss after 38 years of the introduction of A. ervi, (2) the current level of genetic differentiation between Chilean introduced populations and putative native populations from France, and (3) the genetic relationships and magnitude of the genetic diversity loss between introduced populations of A. ervi in Chile compared to those introduced in North America. The results provide evidence that parasitoid populations suffered the effects of a moderate genetic bottleneck during the introduction, showing further a strong geographical genetic differentiation between populations in the natal and novel environments. In addition mtDNA sequences analysis showed evidence of a single main event of introduction in Chile, unlike the North American situation, where there is evidence for multiple introductions. The significance of the loss of genetic diversity during introductions related to the success of parasitoids as biocontrol agents in classical biological control programs is discussed.

Extensive theoretical research has been conducted on the morning commute problem building on the bottleneck model (Vickrey in Am Econ Rev 59(2):251–260, 1969). There have been far fewer studies assessing the bottleneck model and its extensions using real data. This paper presents an analysis of empirical data from the toll plaza of the San Francisco–Oakland Bay Bridge, which is a major regional bottleneck. The Bay Bridge transitioned from a constant toll to a peak step toll on July 1, 2010, so the site is well-suited for assessing many relevant extensions to the classic bottleneck model for the morning commute, including theories for congestion pricing. This paper uses traffic data from the Bay Bridge to address two areas of theoretical work on bottleneck congestion: (1) heterogeneous schedule preferences, and (2) equilibrium response to step tolls. The results suggest that the predicted equilibrium for the morning commute is consistent with observed traffic patterns, especially at the beginning of the rush. The data can be analyzed through the lens of relevant theories to quantify commuters’ value of earliness and lateness relative to queuing delay. The pattern of queuing suggests that the peak step toll has not been implemented in a socially optimal way.

Most antibiotics were discovered by screening soil actinomycetes, but the efficiency of the discovery platform collapsed in the 1960s. By now, more than 3000 antibiotics have been described and most of the current discovery effort is focused on the rediscovery of known compounds, making the approach impractical. The last marketed broad-spectrum antibiotics discovered were daptomycin, linezolid, and fidaxomicin. The current state of the art in the development of new anti-infectives is a non-existent pipeline in the absence of a discovery platform. This is particularly troubling given the emergence of pan-resistant pathogens. The current practice in dealing with the problem of the background of known compounds is to use chemical dereplication of extracts to assess the relative novelty of a compound it contains. Dereplication typically requires scale-up, extraction, and often fractionation before an accurate mass and structure can be produced by MS analysis in combination with 2D NMR. Here, we describe a transcriptome analysis approach using RNA sequencing (RNASeq) to identify promising novel antimicrobial compounds from microbial extracts. Our pipeline permits identification of antimicrobial compounds that produce distinct transcription profiles using unfractionated cell extracts. This efficient pipeline will eliminate the requirement for purification and structure determination of compounds from extracts and will facilitate high-throughput screen of cell extracts for identification of novel compounds.

Critically endangered species that have undergone severe population bottlenecks often have little remaining genetic variation, making it difficult to reconstruct population histories to apply in reintroduction and recovery strategies. By using ancient DNA techniques, it is possible to combine genetic evidence from the historical population with contemporary samples to provide a more complete picture of a species' genetic variation across its historical range and through time. Applying this approach, we examined changes in the mitochondrial DNA (mtDNA) control region (526 base pairs) of the endangered California Condor (Gymnogyps californianus). Results showed a >80% reduction in unique haplotypes over the past 2 centuries. We found no spatial sorting of haplotypes in the historical population; the periphery of the range contained haplotypes that were common throughout the historical range. Direct examination of mtDNA from California Condor museum specimens provided a new window into historical po...

Understanding the extent to which diversity at immunologically important genes is reduced by demographic perturbations such as population bottlenecks, and the resulting consequences this has on individual fitness, is of fundamental importance for the effective management of genetic resources in natural populations. Toll-like receptors are key immunological genes with well-established links to fitness. Here, levels of allelic diversity and heterozygosity at the toll-like receptor 4 locus (Tlr4) were characterised across 280 water voles (Arvicola amphibius) from an isolated, island population in north west Scotland that went through a severe population bottleneck between 2004 and 2006 that eroded neutral microsatellite variation. Two functional Tlr4 alleles were resolved prior to the population crash at frequencies close to parity and an excess of heterozygote genotypes relative to Hardy–Weinberg expectations. Through the population bottleneck both alleles were retained with genotype frequencies conforming to Hardy–Weinberg expectations. Tlr4 genotype was significantly associated with gamasid mite, flea (Megabothris walkeri) and sheep tick larva (Ixodes ricinus) burdens among individuals, suggesting a mechanism through which parasite mediated selection could affect Tlr4 diversity. The results are examined with recourse to the extent that they are consistent with the effects of genetic drift and balancing selection, and their significance is discussed in relation to identifying target genes that assay ecological and adaptively meaningful genetic variation in a conservation context.

The excessive commercial collection of matsutake mushrooms can lead to extreme reduction of population size, which may cause genetic bottleneck and decrease genetic diversity of Tricholoma matsutake. Here, six polymorphic microsatellite loci markers were used to examine the genetic diversity of four natural T. matsutake populations from two main producing regions of China. The minimum combinations of four loci were able to discriminate total 86 sampled individuals with distinctive multilocus genotypes. Our analysis of molecular variance (AMOVA) revealed that about 80% and 20% of the overall genetic variation were respectively partitioned within and among populations. The principal-coordinate analyses (PCA) distinguished the four tested populations into three genetic clusters, each of which was correlated with respective endemic host plants on a geographical basis. The AMOVA, PCA and pairwise population FST estimates consistently displayed the same genetic divergence patterns and spatial structure of T. matsutake mediated by host plants in China. The significant heterozygosity excesses demonstrated that a recent genetic bottleneck occurred in each population tested. The complementary M-ratio test indicated past genetic bottleneck events over longer periods. Only four individuals were identified as putative first generation migrants within northeastern China, which implies restricted interpopulation gene flow in T. matsutake. We discuss that the significant genetic differentiation among populations of T. matsutake is most likely a function of host adaptation, host specificity, genetic bottleneck, limited dispersal and habitat fragmentation.

In this paper we investigate a bottleneck model in which the capacity of the bottleneck is assumed stochastic and follows a uniform distribution. The commuters' departure time choice is assumed to follow the user equilibrium principle according to mean trip cost. The analytical solution of the proposed model is derived. Both the analytical and numerical results show that the capacity variability would indeed change the commuters' travel behavior by increasing the mean trip cost and lengthening the peak period. We then design congestion pricing schemes within the framework of the new stochastic bottleneck model, for both a time-varying toll and a single-step coarse toll, and prove that the proposed piecewise time-varying toll can effectively cut down, and even eliminate, the queues behind the bottleneck. We also find that the single-step coarse toll could either advance or postpone the earliest departure time. Furthermore, the numerical results show that the proposed pricing schemes can indeed improve the efficiency of the stochastic bottleneck through decreasing the system’s total travel cost.

The New Zealand sea lion (NZSL) is of high conservation concern due to its limited distribution and its declining population size. Historically, it occupied most of coastal New Zealand, but is now restricted to a few coastal sites in southern mainland New Zealand and the sub-Antarctic Islands. NZSLs have experienced a recent reduction in population size due to sealing in the 1900s, which is expected to have resulted in increased inbreeding and a loss of genetic variation, potentially reducing the evolutionary capacity of the species and negatively impacting on its long-term prospects for survival. We used 17 microsatellite loci, previously shown to have cross-species applications in pinnipeds, to determine locus- and population-specific statistics for 1205 NZSLs from 7 consecutive breeding seasons. We show that the NZSL population has a moderate level of genetic diversity in comparison to other pinnipeds. We provide genetic evidence for a population reduction, likely caused by historical sealing, and a measure of allele sharing/parental relatedness (internal relatedness) that is suggestive of increased inbreeding in pups that died during recent epizootic episodes. We hypothesize that population bottlenecks and nonrandom mating have impacted on the population genetic architecture of NZSLs, affecting its population recovery.

WOS: 000417160500001, The historical changes in European Black Pine population size across the whole natural distribution in Europe and Asia Minor were analyzed facing the Plio-Pleistocene climatic fluctuations. Thirteen chloroplast SSRs and SNPs markers have been studied under the assumptions of "neutral evolution." Populations and meta-populations had different histories of migration routes, and they were strongly affected by complex patterns of isolation, fragmentation, speciation, expansion (1.88-4.28 Ma), purification selection (2.09-21.41 Ma) and bottleneck (1.85-21.76 Ma). A significant number of populations (min. 29-41%) were in equilibrium for very long periods. Generally, the bottleneck revealed by chloroplast DNA is weaker than the bottleneck revealed by nuclear DNA. The N (e) immediately after the bottleneck reaches between 1820 and 3640 individuals. Generally, the historical effective population sizes shrink significantly for the Tertiary period from 10-15 up to 2.5 Ma in Western Europe (by 82%), followed by Asia Minor (69%) and the Balkan Peninsula (28%), likely resulting from important climatic changes. The rates and frequencies of stepwise westwards migration waves have been not sufficient to prevent isolation between the meta-populations and to suppress "sympatric speciation." The migration was weak for the Pliocene, but was maximal for the Pleistocene, and finally silent for the present interglacial period, namely the Holocene.

Debilitating mutation in RNA viruses can be repaired via different mechanisms, while triggering factors of mutation repair were poorly understood. In this study, multiple levels of triggering factors of mutation repair was identified based on genetic damage of tRNA-like structure (TLS) in cucumber mosaic virus (CMV). TLS mutation in different RNAs of CMV distinctively impacted the pathogenicity and mutation repair. Relative quantity defect of RNA2 or quality defect of RNA3 resulting from TLS mutation was correlated with high rate of mutation repair, and TLS mutation of RNA1 failed to be repaired. However, TLS mutation of RNA1 can be repaired in the mixed inoculation with RNA2 having pre-termination mutation of 2b or at the low dose of original inoculation, especially around dilution end-point. Taken together, TLS mutation resulting into quality or quantity defect of viral genome or TLS mutation at low dose around dilution end-point was inclined to be repaired. In addition, different levels of mutation repair of TLS necessarily required the cell-to-cell movement, which implied the positive effect of cell-to-cell bottleneck on evolution of low-fitness virus, a phenomenon opposite to the Muller ratchet. This study provided important revelations on virus evolution and application of viral mild vaccine.Author summaryDue to the low-fidelity of replicase, debilitating RNA viruses can be repaired through different mechanisms, which implied the resilience of RNA viruses. In this study, we identified multiple levels of triggered factors and occurrence occasion of mutation repair using the divided genome of CMV, which contained conserved cis-element tRNA-like structure (TLS) at the 3’end. TLS mutation of different RNA in CMV presented different rate of mutation repair from 0-80%. TLS mutation resulting into genomic quality or quantity defect or at low dose around dilution end-point was inclined to be repaired. However, all above types of mutation repair necessarily required cell-to-cell movement, which presented the positive effect of cell-to-cell bottleneck on virus evolution and increased fitness of low-fitness RNA viruses. It is an opposite phenomenon to the Muller ratchet, in which bottleneck always decreased the fitness of viruses. Except to identify the triggering factors of mutation repair in RNA viruses, this study also provided important revelations on creation and application of mild vaccine based on RNA viruses.

Most humans carry a mixed population of mitochondrial DNA (mtDNA heteroplasmy) affecting ~1–2% of molecules, but rapid percentage shifts occur over one generation leading to severe mitochondrial diseases. A decrease in the amount of mtDNA within the developing female germ line appears to play a role, but other sub-cellular mechanisms have been implicated. Establishing an in vitro model of early mammalian germ cell development from embryonic stem cells, here we show that the reduction of mtDNA content is modulated by oxygen and reaches a nadir immediately before germ cell specification. The observed genetic bottleneck was accompanied by a decrease in mtDNA replicating foci and the segregation of heteroplasmy, which were both abolished at higher oxygen levels. Thus, differences in oxygen tension occurring during early development likely modulate the amount of mtDNA, facilitating mtDNA segregation and contributing to tissue-specific mutation loads., Using an in vitro culture system, Pezet et al. studied the influence of oxygen on the mitochondrial DNA (mtDNA) in primordial germ cell-like cells (PGCLCs) in vitro. Low oxygen levels resembling in vivo reduced the cell mtDNA content causing a genetic bottleneck and the segregation of different mtDNA genotypes.

The genetic consequences of population bottlenecks on patterns of deleterious genetic variation in human populations are of tremendous interest. Based on exome sequencing of 18 Greenlandic Inuit we show that the Inuit have undergone a severe ∼20,000-year-long bottleneck. This has led to a markedly more extreme distribution of allele frequencies than seen for any other human population tested to date, making the Inuit the perfect population for investigating the effect of a bottleneck on patterns of deleterious variation. When comparing proxies for genetic load that assume an additive effect of deleterious alleles, the Inuit show, at most, a slight increase in load compared to European, East Asian, and African populations. Specifically, we observe

Mitochondria are essential organelles in eukaryotic cells that provide critical support for energetic and metabolic homeostasis. Mutations that accumulate in mitochondrial DNA (mtDNA) in somatic cells have been implicated in cancer, degenerative diseases, and the aging process. However, the mechanisms used by somatic cells to maintain proper functions despite their mtDNA mutation load are poorly understood. Here, we analyzed somatic mtDNA mutations in more than 30,000 human single peripheral and bone marrow mononuclear cells and observed a significant overrepresentation of homoplastic mtDNA mutations in B, T and NK lymphocytes despite their lower mutational burden than other hematopoietic cells. The characteristic mutational landscape of mtDNA in lymphocytes were validated with data from multiple platforms and individuals. Single-cell RNA-seq and computational modeling demonstrated a stringent mitochondrial bottleneck during lymphocyte development likely caused by lagging mtDNA replication relative to cell proliferation. These results illuminate a potential mechanism used by highly metabolically active immune cells for quality control of their mitochondrial genomes.

Numerous species of marine megafauna are at risk of extinction and understanding their genetic population structure and demographic history is essential for their conservation. We used mitochondrial DNA and 18 nuclear microsatellite loci, on the largest genetic dataset compiled to date on Australian humpback dolphins (eight sampling sites, 159 samples), to assess their genetic diversity, gene flow and past demographic history along the east coast of Queensland, Australia. Levels of genetic diversity were low (mtDNA: h = 0–0.52, π = 0–0.007; nDNA: Ho = 0.27–0.41; AR = 1.7–2.4). Both mitochondrial (ΦST = 0.49, P = 0.001) and nuclear markers (FST = 0.14, P = 0.001) showed strong genetic structure among sampling sites. Four putative populations were identified, with little contemporary gene flow (m = 0.017 to 0.047) among populations. Genetic divergence follows an isolation-by-distance model (r = 0.38, P = 0.0001), with an apparent restriction in gene flow occurring at scales of 382–509 km. Estimates of contemporary effective population size were low (Ne = 11.5–31.2), with signatures of genetic bottlenecks for all putative populations about 50–150 generations ago. The current low levels of genetic diversity, gene flow, and effective population size in Australian humpback dolphins indicate the effects of historical population bottlenecks and/or founder events during the late Holocene period (~1250–3750 years ago); probably associated with sea level fall and increased intensity of El Nino Southern Oscillation-climatic events. Our results raise important conservation concerns and emphasize the vulnerability of Australian humpback dolphins to stochastic demographic, genetic and environmental processes. Conservation strategies should focus on promoting connectivity among local populations and reducing direct causes of human-related mortality.

To resolve the taxonomy and assess the population structure of threadfin (sea catfish), Arius arius in south Indian coastal regions this study was designed using morphometric and molecular markers. The analyses found homogeneity among the populations, which was characterized by high gene flow and no isolation by distance. Genetic continuity was consistently observed between east and west coasts of Indian populations, which were confirmed by different estimates of genetic structure. Further more, the observed low nucleotide diversity with high haplotype diversity could be the attribute of genetic bottleneck with rapid population expansion of this species in recent years. The present study underlies the importance of understanding the biological significance of genetic differentiation to establish management strategies for the exploited A. arius populations.

Summary Signal transduction processes are typically initiated by the interaction of signal molecules with sensor domains. The current lack of information on the signal molecules that feed into regulatory circuits forms a major bottleneck that hampers the understanding of regulatory processes. McKellar et al. report a high-throughput approach for the identification of signal molecules, which is based on thermal shift assays of recombinant sensor domains in the absence and presence of compounds from commercially available ligand collections. Initial binding studies with the sensor domain of the PctA chemoreceptor of Pseudomonas aeruginosa showed a close match between thermal shift assay results and microcalorimetric studies reported previously. Using thermal shift assays the authors then identify signals that bind to three chemoreceptors of the kiwifruit pathogen P. syringae pv. Actinidiae NZ-V13. Microcalorimetric binding studies and chemotaxis assays have validated the relevance of these ligands. The power of this technique lies in the combination of a high-throughput analytical tool with commercially available compound collections. The approach reported is universal since it can be employed to identify signal molecules to any type of sensor domain. There is no doubt that this technique will facilitate the identification of many signal molecules in future years.

Aim: The present study was undertaken in Salem Black goat population for genetic analysis at molecular level to exploit the breed for planning sustainable improvement, conservation and utilization, which subsequently can improve the livelihood of its stakeholders. Materials and Methods: Genomic DNA was isolated from blood samples of 50 unrelated Salem Black goats with typical phenotypic features in several villages in the breeding tract and the genetic characterization and bottleneck analysis in Salem Black goat was done using 25 microsatellite markers as recommended by the Food and Agricultural Organization, Rome, Italy. The basic measures of genetic variation were computed using bioinformatic software. To evaluate the Salem Black goats for mutation drift equilibrium, three tests were performed under three different mutation models, viz., infinite allele model (IAM), stepwise mutation model (SMM) and two-phase model (TPM) and the observed gene diversity (He) and expected equilibrium gene diversity (Heq) were estimated under different models of microsatellite evolution. Results: The study revealed that the observed number of alleles ranged from 4 (ETH10, ILSTS008) to 17 (BM64444) with a total of 213 alleles and mean of 10.14±0.83 alleles across loci. The overall observed heterozygosity, expected heterozygosity, inbreeding estimate and polymorphism information content values were 0.631±0.041, 0.820±0.024, 0.233±0.044 and 0.786±0.023 respectively indicating high genetic diversity. The average observed gene diversities (He) pooled over different markers was 0.829±0.024 and the average expected gene diversities under IAM, TPM and SMM models were 0.769±0.026, 0.808±0.024 and 0.837±0.020 respectively. The number of loci found to exhibit gene diversity excess under IAM, TPM and SMM models were 18, 17 and 12 respectively. Conclusion: All the three statistical tests, viz., sign test, standardized differences test and Wilcoxon sign rank test, revealed significant deviation of Salem Black goats from mutation-drift equilibrium under IAM and TPM models, however, nonsignificant deviation under SMM model. The qualitative test of mode shift analysis supported the results under SMM indicating the absence of the genetic bottleneck in the recent past in Salem Black goats.

Mitochondrial DNA (mtDNA) and plastid DNA (ptDNA) encode vital bioenergetic apparatus, and mutations in these organelle DNA (oDNA) molecules can be devastating. In the germline of several animals, a genetic “bottleneck” increases cell-to-cell variance in mtDNA heteroplasmy, allowing purifying selection to act to maintain low proportions of mutant mtDNA. However, most eukaryotes do not sequester a germline early in development, and even the animal bottleneck remains poorly understood. How then do eukaryotic organelles avoid Muller’s ratchet—the gradual buildup of deleterious oDNA mutations? Here, we construct a comprehensive and predictive genetic model, quantitatively describing how different mechanisms segregate and decrease oDNA damage across eukaryotes. We apply this comprehensive theory to characterise the animal bottleneck with recent single-cell observations in diverse mouse models. Further, we show that gene conversion is a particularly powerful mechanism to increase beneficial cell-to-cell variance without depleting oDNA copy number, explaining the benefit of observed oDNA recombination in diverse organisms which do not sequester animal-like germlines (for example, sponges, corals, fungi, and plants). Genomic, transcriptomic, and structural datasets across eukaryotes support this mechanism for generating beneficial variance without a germline bottleneck. This framework explains puzzling oDNA differences across taxa, suggesting how Muller’s ratchet is avoided in different eukaryotes., A comprehensive model for mitochondrial and plasmid DNA segregation, supported by with genomic, transcriptomic, and single-cell data, shows how the attritional effects of Muller’s ratchet can be avoided in the organelles of diverse eukaryotes.

Chinese alligator (Alligator sinensis) is an endangered freshwater crocodilian endemic to China, which experienced a severe bottleneck about 30 years ago. In this study, we developed locus-specific primers to investigate the polymorphism of 3 major histocompatibility complex (MHC) loci in 3 Chinese alligator populations, in combination with 6 neutral microsatellite markers as a contrast. We found the genetic trace for the bottleneck effect on the endangered Chinese alligator: the low allelic diversity (2 alleles at each locus), the low nucleotide substitution rate (no more than 0.009) at all sites, the deviation from Hardy-Weinberg Equilibrium/heterozygote deficiency, and the significant Tajima’s D values, indicating the MHC class I and class II loci being at different stages of bottleneck. We also obtained 3 pieces of evidence for balancing selection on this severely bottlenecked reptile: an obvious excess of nonsynonymous substitutions over synonymous at the antigen-binding positions, the mean synonymous substitution rate of MHC exons significantly higher than mean nucleotide substitution rate of introns, and the differentiation coefficient FST of MHC loci significantly lower than that of microsatellite loci. Consequently, we emphasize that the Chinese alligator holds a pretty low adaptive ability and requires scientific conservation strategies to ensure the long-term population development.

The bottleneck governing infectious disease transmission describes the size of the pathogen population transferred from a donor to a recipient host. Accurate quantification of the bottleneck size is of particular importance for rapidly evolving pathogens such as influenza virus, as narrow bottlenecks would limit the extent of transferred viral genetic diversity and, thus, have the potential to slow the rate of viral adaptation. Previous studies have estimated the transmission bottleneck size governing viral transmission through statistical analyses of variants identified in pathogen sequencing data. The methods used by these studies, however, did not account for variant calling thresholds and stochastic dynamics of the viral population within recipient hosts. Because these factors can skew bottleneck size estimates, we here introduce a new method for inferring transmission bottleneck sizes that explicitly takes these factors into account. We compare our method, based on beta-binomial sampling, with existing methods in the literature for their ability to recover the transmission bottleneck size of a simulated dataset. This comparison demonstrates that the beta-binomial sampling method is best able to accurately infer the simulated bottleneck size. We then apply our method to a recently published dataset of influenza A H1N1p and H3N2 infections, for which viral deep sequencing data from inferred donor-recipient transmission pairs are available. Our results indicate that transmission bottleneck sizes across transmission pairs are variable, yet that there is no significant difference in the overall bottleneck sizes inferred for H1N1p and H3N2. The mean bottleneck size for influenza virus in this study, considering all transmission pairs, was Nb = 196 (95% confidence interval 66-392) virions. While this estimate is consistent with previous bottleneck size estimates for this dataset, it is considerably higher than the bottleneck sizes estimated for influenza from other datasets.Author SummaryThe transmission bottleneck size describes the size of the pathogen population transferred from the donor to recipient host at the onset of infection and is a key factor in determining the rate at which a pathogen can adapt within a host population. Recent advances in sequencing technology have enabled the bottleneck size to be estimated from pathogen sequence data, though there is not yet a consensus on the statistical method to use. In this study, we introduce a new approach for inferring the transmission bottleneck size from sequencing data that accounts for the criteria used to identify sequence variants and stochasticity in pathogen replication dynamics. We show that the failure to account for these factors may lead to underestimation of the transmission bottleneck size. We apply this method to a previous dataset of human influenza A infections, showing that transmission is governed by a loose transmission bottleneck and that the bottleneck size is highly variable across transmission events. This work advances our understanding of the bottleneck size governing influenza infection and introduces a method for estimating the bottleneck size that can be applied to other rapidly evolving RNA viruses, such as norovirus and RSV.

The genetic and demographic bottleneck analysis of Indian camel breeds was carried out utilizing 40 microsatellite markers. Allelic polymorphism was observed at 20 loci in the Indian dromedary breeds. A total of 66 alleles were scored. The average number of alleles, expected heterozygosity and polymorphic information content were, respectively, 3.25 ± 0.27, 0.56 ± 0.04 and 0.49 ± 0.04 in Bikaneri; 3.25 ± 0.25, 0.53 ± 0.03 and 0.46 ± 0.03 in Jaisalmeri; 3.0 ± 0.21, 0.53 ± 0.04 and 0.45 ± 0.03 in Kachchhi and 3.1 ± 0.19, 0.51 ± 0.03 and 0.44 ± 0.03 in Mewari breed. Higher genetic variation was observed in most numerous Bikaneri breed. Genetic distances were least between the breed pair Bikaneri and Jaisalmeri which was closely placed with the Kachchhi breed. The Mewari camels had relatively higher genetic distance from the other three Indian dromedary breeds. The bottleneck analysis revealed the presence of genetic bottleneck in all four breeds of Indian dromedary. However, the qualitative graphical method resulted in normal L-shaped distribution of allele frequencies in Jaisalmeri breeds and shifted mode in Bikaneri, Kachchhi and Mewari breeds. The demographic bottleneck analysis revealed minimum reduction (-9.65 %) in the population of camels in Jaisalmeri breeding tract as compared to that of Bikaneri (-14.18 %), Kachchhi (-27.78 %) and Mewari (-32 %) breeding tracts. Conclusively, the genetic bottleneck analysis could explain the demographic bottleneck in the Indian dromedary populations. Therefore, appropriate conservation and improvement efforts are needed in all four dromedary breeds with immediate attention on Mewari and Kachchhi breeds. The present study is the first report in demonstrating the genetic basis of demographic bottleneck in the Indian dromedary populations.

Background and aims In nutrient poor environments, plant nitrogen (N) acquisition is governed by soil diffusive fluxes and root uptake capacities. However, the relationship between these two processes is not well understood. We explored a way of comparing the processes, enabling identification of the limiting factor for tree N acquisition.

Studies of population genetics in turtles have suggested that turtles do not experience genetic impacts of bottlenecks as strongly as expected. However, recent studies cast doubt on two commonly used tests implemented in the program BOTTLENECK, suggesting that these findings should be re-evaluated. The Spotted Turtle (Clemmys guttata (Schneider, 1792)) is endangered both globally and within Canada, but genetic data required to develop effective recovery strategies are unavailable. Here, we conducted the first study of population genetic structure in C. guttata. We then used multiple small populations of C. guttata as replicates to test whether the commonly used program BOTTLENECK could detect the genetic signature of bottlenecks in our study populations, which are all thought to have experienced significant declines in the past 2–3 generations (75 years). Turtles (n = 256) were genotyped at 11 microsatellite loci. A suite of Bayesian population genetics analyses and a principal coordinates analysis identified a minimum of 6 distinct genetic populations and a maximum of 10 differentiated subpopulations across the sampled Canadian range of C. guttata, which corresponded to demographically independent units. BOTTLENECK failed to detect population declines. A literature review found that bottleneck tests in 17 of 18 previous genetic studies of tortoises and freshwater turtles were based on suboptimal sampling, potentially confounding their results. High retention of genetic diversity (allelic richness and heterozygosity) in isolated populations of C. guttata and other turtle species is encouraging for species recovery, but conclusions about the prevalence of genetic bottlenecks in such populations should be re-examined.

This paper analyzes efficient pricing at a congested airport dominated by a single firm. Unlike much of the previous literature, we combine a dynamic bottleneck model of congestion and a vertical structure model that explicitly considers the role of airlines and passengers. We show that a Stackelberg leader interacting with a competitive fringe partially internalizes congestion, and that there are various toll regimes that induce the welfare maximizing outcome, widening the set of choices for regulators. In particular, charging the congestion toll that would apply for fully competitive carriers and that ignores any internalization, to both the leader and the fringe, yields the first-best outcome. © 2013 Elsevier Inc.

Despite intensive management since the 1970s, recovery of the endangered northwestern Atlantic population of the Roseate Tern (Sterna dougallii dougallii) has not offset low productivity from a female-biased sex ratio, low adult survival, and habitat constriction. Now, >90% of individuals breed at three sites within 200 km from Long Island, NY, to Buzzards Bay, MA (warm-water subregion). To characterize the impact of historical bottlenecks, metapopulation structure, and demographic fluctuations on genetic variation, Roseate Terns from the warm-water (1870s, 1970s, 1997, 2016) and cold-water (Nova Scotia, Canada; 2018) subregions were genotyped at 8–16 microsatellites and 2–3 mitochondrial regions. Diversity declined in the warm-water subregion from the 1870s (expected heterozygosity [HE] = 0.44, allelic richness [AR] = 2.86) and 1970s (HE = 0.53, AR = 3.25) to 1997 (HE = 0.38, AR = 2.58). Genetic signatures of bottlenecks persisted in 1997 (P =

Access the genetic variability of endangered and isolated populations has become an important conservation tool. Astyanax scabripinnis is a well-known fish model for genetic studies, forming very isolated populations in headwaters. Besides that, this species frequently presents supernumerary chromosomes, which elevates the interest on genetic studies. Genetic diversity of an Astyanax scabripinnis population from the Atlantic Forest (Serra da Mantiqueira region, Brazil) was assessed with microsatellite markers for the first time. Since microsatellite markers are not described for this species, we tested markers described for a related species for transferability to A. scabripinnis. Six polymorphic loci were sufficiently reliable for population genetic analysis. We found that this population passed through a recent bottleneck because of the presence of an excess of heterozygotes, low allelic diversity, heterozygosity excess, and small effective population size. Individuals with and without B chromosomes were previously identified in this population and our study found private alleles in the individuals without B chromosomes. Furthermore, when individuals without B chromosomes were removed from the analysis, the population did not present heterozygosity excess, suggesting that the bottleneck event was driven by individuals with B chromosomes. Our results provide an insight into the value of microsatellite markers as molecular tools and is the first genetic study using molecular data of A. scabripinnis from this area.

Population increases over the past several decades provide natural settings in which to study the evolutionary processes that occur during bottleneck, growth, and spatial expansion. We used parallel natural experiments of historical decline and subsequent recovery in two sympatric pinniped species in the Northwest Atlantic, the gray seal (Halichoerus grypus atlantica) and harbor seal (Phoca vitulina vitulina), to study the impact of recent demographic change in genomic diversity. Using restriction site‐associated DNA sequencing, we assessed genomic diversity at over 8,700 polymorphic gray seal loci and 3,700 polymorphic harbor seal loci in samples from multiple cohorts collected throughout recovery over the past half‐century. Despite significant differences in the degree of genetic diversity assessed in the two species, we found signatures of historical bottlenecks in the contemporary genomes of both gray and harbor seals. We evaluated temporal trends in diversity across cohorts, as well as compared samples from sites at both the center and edge of a recent gray seal range expansion, but found no significant change in genomewide diversity following recovery. We did, however, find that the variance and degree of allele frequency change measured over the past several decades were significantly different from neutral expectations of drift under population growth. These two cases of well‐described demographic history provide opportunities for critical evaluation of current approaches to simulating and understanding the genetic effects of historical demographic change in natural populations.

Amylase plays an important role in biotechnology industries, and Gram-positive bacterium Bacillus subtilis is a major host to produce heterogeneous α-amylases. However, the secretion stress limits the high yield of α-amylase in B. subtilis although huge efforts have been made to address this secretion bottleneck. In this question-oriented review, every effort is made to answer the following questions, which look simple but are long-standing, through reviewing of literature: (1) Does α-amylase need a specific and dedicated chaperone? (2) What signal sequence does CsaA recognize? (3) Does CsaA require ATP for its operation? (4) Does an unfolded α-amylase is less soluble than a folded one? (5) Does α-amylase aggregate before transporting through Sec secretion system? (6) Is α-amylase sufficient stable to prevent itself from misfolding? (7) Does α-amylase need more disulfide bonds to be stabilized? (8) Which secretion system does PrsA pass through? (9) Is PrsA ATP-dependent? (10) Is PrsA reused after folding of α-amylase? (11) What is the fate of PrsA? (12) Is trigger factor (TF) ATP-dependent? The literature review suggests that not only the most of those questions are still open to answers but also it is necessary to calculate ATP budget in order to better understand how B. subtilis uses its energy for production and secretion.

The optimal time-varying tolling is cumbersome for practical implementation due to the incomplete knowledge of toll determination and high costs for toll collection. Alternatively, a step toll is easier to implement than an optimal time-varying toll and could have lower operation costs and has been developed to reduce queuing time. In this paper, it is assumed that some drivers are willing to brake, while other drivers may pass the bottleneck near the end of the tolling period, and the braking drivers queue on the lanes and can impede other drivers. Two novel single-step-toll equilibrium models are developed with consideration of dropped capacity due to lanes occupied by the brakers. We found that some existing step-toll models are special cases of the proposed models. The toll level is further optimised to minimise either the maximal queue length or the total social cost. Finally, a numerical example is developed to illustrate the effect of the optimised toll on system performance.

In various crops, genetic bottlenecks occurring through domestication can limit crop resilience to biotic and abiotic stresses. In the present study, we investigated nucleotide diversity in tomato chloroplast genome through sequencing seven plastomes of cultivated accessions from the Campania region (Southern Italy) and two wild species among the closest (Solanum pimpinellifolium) and most distantly related (S. neorickii) species to cultivated tomatoes. Comparative analyses among the chloroplast genomes sequenced in this work and those available in GenBank allowed evaluating the variability of plastomes and defining phylogenetic relationships. A dramatic reduction in genetic diversity was detected in cultivated tomatoes, nonetheless, a few de novo mutations, which still differentiated the cultivated tomatoes from the closest wild relative S. pimpinellifolium, were detected and are potentially utilizable as diagnostic markers. Phylogenetic analyses confirmed that S. pimpinellifolium is the closest ancestor of all cultivated tomatoes. Local accessions all clustered together and were strictly related with other cultivated tomatoes (S. lycopersicum group). Noteworthy, S. lycopersicum var. cerasiforme resulted in a mixture of both cultivated and wild tomato genotypes since one of the two analyzed accessions clustered with cultivated tomato, whereas the other with S. pimpinellifolium. Overall, our results revealed a very reduced cytoplasmic variability in cultivated tomatoes and suggest the occurrence of a cytoplasmic bottleneck during their domestication.

Narrow-leafed lupins (Lupinus angustifolius L.) were fully domesticated as a valuable grain legume crop in Australia during the mid-twentieth century. Pedigree records are available for 31 released varieties and 93 common ancestors from 1967 to 2016, which provides a rare opportunity to study genetic diversity and population inbreeding in a crop following a domestication bottleneck. From the 1930s–1960s, partially domesticated germplasm was exchanged among lupin breeders in eastern and western Europe, Australia, and USA. Mutants of two founder parents contributed to the first fully domesticated narrow-leafed lupin variety “Uniwhite” in 1967. Four Phases of breeding are proposed after domestication in the Australian lupin breeding program: Foundation (1967–1987), First Diversification (1987–1998), Exploitation (1998–2007), and Second Diversification (2007–2016) Phases. Foundation Phase varieties had only two or three founder parents following the domestication bottleneck and high average coefficient of coancestry (f = 0.45). The First Diversification Phase varieties were derived from crosses with wild lupin ecotypes, and varieties in this Phase had lower average coefficient of coancestry (f = 0.27). Population coancestry increased in varieties of the Exploitation Phase (f = 0.39). The rate of inbreeding (ΔF) between the First Diversification and Exploitation Phase (10 years) was 0.09 per cycle, which equates to 9% loss of alleles per cycle due to random drift and low-effective population size (Ne = 5.4), assuming two 5-year cycles. New genetic diversity was introduced in the Second Diversification Phase varieties (f = 0.24) following more crossing with wild lupins. Genetic progress in Australian lupin breeding so far has been substantial with improvements in grain yield and disease resistance, but narrow genetic diversity will limit future genetic progress. The pedigree of the latest varieties includes 39.1% from three founder varieties in the domestication bottleneck and 48.3% from 9 wild ecotypes that survived 50 years of selection. In terms of conservation genetics, the Australian lupin breeding program is a critically endangered population, and subject to excessive random drift. Migration of genetic diversity from wild lupins or exchange with international breeding programs will improve long-term genetic gain and effectiveness of genomic selection.