Long-term Genetic Diversity Research Articles

Within-host genetic diversity of extended-spectrum beta-lactamase-producing Enterobacterales in long-term colonized patients

Despite recognition of the immediate impact of infections caused by extended-spectrum beta-lactamase (ESBL)-producing Enterobacterales (ESBL-PE) on human health, essential aspects of their molecular epidemiology remain under-investigated. This includes knowledge on the potential of a particular strain to persist in a host, mutational events during colonization, and the genetic diversity in individual patients over time. To investigate long-term genetic diversity of colonizing and infecting ESBL-Klebsiella pneumoniae species complex and ESBL-Escherichia coli in individual patients over time, we performed a ten-year longitudinal retrospective study and extracted clinical and microbiological data from electronic health records. In this investigation, 76 ESBL-K. pneumoniae species complex and 284 ESBL-E. coli isolates were recovered from 19 and 61 patients. Strain persistence was detected in all patients colonized with ESBL-K. pneumoniae species complex, and 83.6% of patients colonized with ESBL-E. coli. We frequently observed isolates of the same strain recovered from different body sites associated with either colonization or infection. Antimicrobial resistance genes, plasmid replicons, and whole ESBL-plasmids were shared between isolates regardless of chromosomal relatedness. Our study suggests that patients colonized with ESBL-producers may act as durable reservoirs for ongoing transmission of ESBLs, and that they are at prolonged risk of recurrent infection with colonizing strains.

Polyandry and non-random fertilisation maintain long-term genetic diversity in an isolated island population of adders (Vipera berus).

Conservation genetic theory suggests that small and isolated populations should be subject to reduced genetic diversity i.e., heterozygosity and allelic diversity. Our 34 years study of an isolated island population of adders (Vipera berus) in southern Sweden challenges this notion. Despite a lack of gene flow and a yearly mean estimated reproductive adult population size of only 65 adult adders (range 12-171), the population maintains high levels of heterozygosity and allelic diversity similar to that observed in two mainland populations. Even a 14-year major "bottleneck" i.e., a reduction in adult adder numbers, encompassing at least four adder generations, did not result in any reduction in the island adders' heterozygosity and allelic diversity. Female adders are polyandrous, and fertilisation is non-random, which our empirical data and modelling suggest are underpinning the maintenance of the population's high level of heterozygosity. Our empirical results and subsequent modelling suggest that the positive genetic effects of polyandry in combination with non-random fertilisation, often overlooked in conservation genetic analyses, deserve greater consideration when predicting long-term survival of small and isolated populations.

Variation in intraspecific demography drives localised concordance but species-wide discordance in response to past climatic change

BackgroundUnderstanding how species biology may facilitate resilience to climate change remains a critical factor in detecting and protecting species at risk of extinction. Many studies have focused on the role of particular ecological traits in driving species responses, but less so on demographic history and levels of standing genetic variation. Additionally, spatial variation in the interaction of demographic and adaptive factors may further complicate prediction of species responses to environmental change. We used environmental and genomic datasets to reconstruct the phylogeographic histories of two ecologically similar and largely co-distributed freshwater fishes, the southern (Nannoperca australis) and Yarra (N. obscura) pygmy perches, to assess the degree of concordance in their responses to Plio-Pleistocene climatic changes. We described contemporary genetic diversity, phylogenetic histories, demographic histories, and historical species distributions across both species, and statistically evaluated the degree of concordance in co-occurring populations.ResultsMarked differences in contemporary genetic diversity, historical distribution changes and historical migration were observed across the species, with a distinct lack of genetic diversity and historical range expansion suggested for N. obscura. Although several co-occurring populations within a shared climatic refugium demonstrated concordant demographic histories, idiosyncratic population size changes were found at the range edges of the more spatially restricted species. Discordant responses between species were associated with low standing genetic variation in peripheral populations. This might have hindered adaptive potential, as documented in recent demographic declines and population extinctions for the two species.ConclusionOur results highlight both the role of spatial scale in the degree of concordance in species responses to climate change, and the importance of standing genetic variation in facilitating range shifts. Even when ecological traits are similar between species, long-term genetic diversity and historical population demography may lead to discordant responses to ongoing and future climate change.

Genetic assessment of captive red pandas (Ailurus fulgens) in American zoos to address management separation by putative subspecies.

Red pandas (Ailurus fulgens) are small charismatic mammals native across montane southern Asia, now endangered by human impacts. They are considered "living fossils" as the sole member of a distinct family, warranting higher conservation priority. Therefore, ex situ breeding programs were initiated to prevent extinction and act as genetic reservoirs for reintroduction, although complicated by apparent taxonomic subdivision. This study investigated whether the separation of captive red pandas in the North American Species Survival Plan® by putative subspecies was justified. A 383-bp segment of mitochondrial DNA control region was therefore sequenced from 67 members representing matriarchal lineages of both groups. A network analysis placed the 11 haplotypes found into separate but closely connected clusters, with one group more strongly related than the other. Statistical analyses and diversity indices corroborated differentiation between the two management units. Phylogenetic analyses employing multiple outgroups confirmed, although not robustly, reciprocal monophyly of the four- and seven-haplotype clades representing putative subspecies Ailurus fulgens fulgens and Ailurus fulgens styani, respectively. These empirical results are adequate to justify continued independent management of these zoo subpopulations, but cannot be definitive for taxonomic classification due to limited sampling from their native range. They will, however, be useful in evaluating long-term genetic diversity changes, focusing management efforts on newly revealed evolutionary limitations, and comparing with an assessment of wild red pandas to determine how representative zoo populations are for reintroduction purposes. Maintaining genetic diversity and population structure of endangered species is essential to protect evolutionary potential and adaptations for long-term sustainability.

Genomic diversity and population structure of the Leonberger dog breed

BackgroundLeonberger is a giant dog breed formed in the 1850s in Germany. Its post-World War II popularity has resulted in a current global population of ~ 30,000 dogs. The breed has predispositions to neurodegenerative disorders and cancer, which is likely due in large part to limited genetic diversity. However, to date there is no scientific literature on the overall demography and genomic architecture of this breed.ResultsWe assessed extensive pedigree records, SNP array genotype data, and whole-genome sequences (WGS) on 142,072, 1203 and 39 Leonberger dogs, respectively. Pedigree analyses identified 22 founder animals and revealed an apparent popular sire effect. The average pedigree-based inbreeding coefficient of 0.29 and average kinship of 0.31 show a dramatic loss of genetic diversity. The observed average life span decreased over time from 9.4 years in 1989 to 7.7 years in 2004. A global health survey confirmed a high prevalence of cancer and neurological disorders. Analysis of SNP-based runs of homozygosity (ROH) identified 125,653 ROH with an average length of 5.88 Mb, and confirmed an average inbreeding coefficient of 0.28. Genome-wide filtering of the WGS data revealed 28 non-protein-changing variants that were present in all Leonberger individuals and a list of 22 potentially pathogenic variants for neurological disorders of which 50% occurred only in Leonbergers and 50% occurred rarely in other breeds. Furthermore, one of the two mtDNA haplogroups detected was present in one dog only.ConclusionsThe increasing size of the Leonberger population has been accompanied by a considerable loss of genetic diversity after the bottleneck that occurred in the 1940s due to the intensive use of popular sires resulting in high levels of inbreeding. This might explain the high prevalence of certain disorders; however, genomic data provide no evidence for fixed coding variants that explain these predispositions. The list of candidate causative variants for polyneuropathy needs to be further evaluated. Preserving the current genetic diversity is possible by increasing the number of individuals for breeding while restricting the number of litters per sire/dam. In addition, outcrossing would help optimize long-term genetic diversity and contribute to the sustainability and health of the population.

Phylogeography, genetic diversity, and population structure of Nile crocodile populations at the fringes of the southern African distribution.

Nile crocodiles are apex predators widely distributed in sub-Saharan Africa that have been viewed and managed as a single species. A complex picture of broad and fine-scale phylogeographic patterns that includes the recognition of two species (Crocodylus niloticus and Crocodylus suchus), and the structuring of populations according to river basins has started to emerge. However, previous studies surveyed a limited number of samples and geographical regions, and large areas of the continent remained unstudied. This work aimed at a fine scale portrait of Nile crocodile populations at the fringes of their geographic distribution in southern Africa. Wild and captive individuals were sampled across four major river systems (Okavango, Lower Kunene, Lower Shire and Limpopo) and the KwaZulu-Natal region. A multi-marker approach was used to infer phylogeographic and genetic diversity patterns, including new and public mitochondrial data, and a panel of 11 nuclear microsatellites. All individuals belonged to a phylogenetic clade previously associated with the C. niloticus species, thus suggesting the absence of C. suchus in southern Africa. The distribution of mitochondrial haplotypes indicated ancestral genetic connectivity across large areas, with loss of diversity along the north-south axis. Genetic variation partitioned the populations primarily into western and eastern regions of southern Africa, and secondarily into the major river systems. Populations were partitioned into five main groups corresponding to the Lower Kunene, the Okavango, the Lower Shire, and the Limpopo rivers, and the KwaZulu-Natal coastal region. All groups show evidence of recent bottlenecks and small effective population sizes. Long-term genetic diversity is likely to be compromised, raising conservation concern. These results emphasize the need for local genetic assessment of wild populations of Nile crocodiles to inform strategies for management of the species in southern Africa.

Determining causes of genetic isolation in a large carnivore (Ursus americanus) population to direct contemporary conservation measures.

The processes leading to genetic isolation influence a population’s local extinction risk, and should thus be identified before conservation actions are implemented. Natural or human-induced circumstances can result in historical or contemporary barriers to gene flow and/or demographic bottlenecks. Distinguishing between these hypotheses can be achieved by comparing genetic diversity and differentiation in isolated vs. continuous neighboring populations. In Ontario, American black bears (Ursus americanus) are continuously distributed, genetically diverse, and exhibit an isolation-by-distance structuring pattern, except on the Bruce Peninsula (BP). To identify the processes that led to the genetic isolation of BP black bears, we modelled various levels of historical and contemporary migration and population size reductions using forward simulations. We compared simulation results with empirical genetic indices from Ontario black bear populations under different levels of geographic isolation, and conducted additional simulations to determine if translocations could help achieve genetic restoration. From a genetic standpoint, conservation concerns for BP black bears are warranted because our results show that: i) a recent demographic bottleneck associated with recently reduced migration best explains the low genetic diversity on the BP; and ii) under sustained isolation, BP black bears could lose between 70% and 80% of their rare alleles within 100 years. Although restoring migration corridors would be the most effective method to enhance long-term genetic diversity and prevent inbreeding, it is unrealistic to expect connectivity to be re-established. Current levels of genetic diversity could be maintained by successfully translocating 10 bears onto the peninsula every 5 years. Such regular translocations may be more practical than landscape restoration, because areas connecting the peninsula to nearby mainland black bear populations have been irreversibly modified by humans, and form strong barriers to movement.

Captive management and the maintenance of genetic diversity in a vulnerable marsupial, the greater bilby

The endemic Australian greater bilby (Macrotis lagotis) is a vulnerable and iconic species. It has declined significantly due to habitat loss, as well as competition and predation from introduced species. Conservation measures include a National Recovery Plan that incorporates several captive breeding programs. Two of these programs were established within 12 months of one another (1997/98), with the same number and sex ratio of founding individuals, but executed different breeding strategies: (1) unmanipulated mating in semi–free range natural habitat versus (2) minimising mean kinship in large enclosures, with the supplementation of new individuals into both populations. This study evaluates the long-term genetic impact of these programs and examines the congruency between the pedigree studbook estimates of diversity and molecular data. Our data demonstrate that genetic diversity was maintained in both populations, with the supplementation of new individuals contributing to the gene pool. The studbook estimates of diversity and inbreeding are not consistent with the microsatellite data and should not solely be relied upon to evaluate the genetic health of captive populations. Our analyses suggest that captive breeding programs may not require costly and intensive management to effectively maintain long-term genetic diversity in a promiscuous species.

Mitochondrial and pedigree analysis in Przewalski's horse populations: implications for genetic management and reintroductions

Background and Aims: Przewalski’s horses have been imported from the western zoos to China since 1985. Yet the genetic diversity in China’s populations has not been studied, thus lacking of such knowledge inevitably affects this population’s management. The aim of this study was to assess genetic diversity in Chinese population of Przewalski’s horses via mitochondrial DNA (mtDNA) control region and pedigree analysis. Materials and methods: Two captive and one reintroduced populations were examined based on mitochondrial DNA control region variation via fecal sampling from 2010 to 2012, together with pedigree analysis. Results: Amplification success rates of fecal mtDNA were as high as 96.2% (93.8%–100%), and were higher for sample in winter than in summer and autumn. Two haplotypes were identified and shared among three populations, but the proportion of individuals with each haplotype varied among the three populations (FST = 0.10874, p = 0.00978). Haplotype diversity in the released population (0.153) was much lower than that in the two captive populations (0.4011 and 0.4966), in accordance with the direction of increase in probability of identity at the dam lines. Conclusion: Future concerns in Przewalski’s horse population management should emphasize on strict reproduction control to minimize inbreeding in captivity, followed by long-term genetic diversity guidelines and non-invasive monitoring in the reintroduction programmes.

Genetic structure among coastal tailed frog populations at Mount St. Helens is moderated by post‐disturbance management

Catastrophic disturbances often provide "natural laboratories" that allow for greater understanding of ecological processes and response of natural populations. The 1980 eruption of the Mount St. Helens volcano in Washington, USA, provided a unique opportunity to test biotic effects of a large-scale stochastic disturbance, as well as the influence of post-disturbance management. Despite severe alteration of nearly 600 km2 of habitat, coastal tailed frogs (Ascaphus truei) were found within a portion of the blast area five years after eruption. We investigated the genetic source of recolonization within the blast area and tested whether post-eruption salvage logging and subsequent tree planting influenced tailed frog movement patterns. Our results support widespread recolonization across the blast area from multiple sources, as all sites are grouped into one genetic cluster. Landscape genetic models suggest that gene flow through the unmanaged portion of the blast area is influenced only by distance between sites and the frost-free period (r2 = 0.74). In contrast, gene flow pathways within the blast area where salvage logging and replanting occurred post-eruption are strongly limited (r2 = 0.83) by the physiologically important variables of heat load and precipitation. These data suggest that the lack of understory and coarse wood (downed and standing dead tree boles) refugia in salvaged areas may leave frogs more susceptible to desiccation and mortality than those frogs moving through the naturally regenerated area. Simulated populations based on the landscape genetic models show an increase in the inbreeding coefficient in the managed area relative to the unmanaged blast area. In sum, we show surprising resilience of an amphibian species to a catastrophic disturbance, and we suggest that, at least for this species, naturally regenerating habitat may better maintain long-term genetic diversity of populations than actively managed habitat.

A Fine-scale Assessment of Using Barriers to Conserve Native Stream Salmonids: A Case Study in Akokala Creek, Glacier National Park, USA

Biologists are often faced with the difficult decision in managing native salmonids of where and when to install barriers as a conservation action to prevent upstream invasion of nonnative fishes. However, fine-scale approaches to assess long-term persistence of populations within streams and watersheds chosen for isolation management are often lacking. We employed a spatially-explicit approach to evaluate stream habitat conditions, relative abundance, and genetic diversity of native westslope cutthroat trout (Oncorhynchus clarkii lewisi) within the Akokala Creek watershed in Glacier National Parka population threatened by introgressive hybridization with nonnative rainbow trout (O. mykiss) from nearby sources. The systematic survey of 24 stream reaches showed broad overlap in fish population and suitable habitat characteristics among reaches and no natural barriers to fish migration were found. Analysis of population structure using 16 microsatellite loci showed modest amounts of genetic diversity among reaches, and that fish from Long Bow Creek were the only moderately distinct genetic group. We then used this information to assess the potential impacts of three barrier placement scenarios on long-term population persistence and genetic diversity. The two barrier placement scenar- ios in headwater areas generally failed to meet general persistence criteria for minimum population size (2,500 individu- als, Ne = 500), maintenance of long-term genetic diversity (He), and no population subdivision. Conversely, placing a bar- rier near the stream mouth and selectively passing non-hybridized, migratory spawners entering Akokala Creek met all persistence criteria and may offer the best option to conserve native trout populations and life history diversity. System- atic, fine-scale stream habitat, fish distribution, and genetic assessments in streams chosen for barrier installation are needed in conjunction with broader scale assessments to understand the potential impacts of using barriers for conserva- tion of native salmonid populations threatened by nonnative fish invasions.

Genetic diversity and differentiation of fragmented reedbeds (Phragmites australis) in the United Kingdom

Reedbeds, which are dominated by the common reed Phragmites australis, provide one of the most important aquatic habitats in the United Kingdom, and have been identified as a priority habitat under the UK Biodiversity Action Plan. Ongoing conservation and management of reedbeds is necessary because past eradication and fragmentation have been extensive. However, there has been little consideration of the potential long-term effects that may arise if processes such as founder effects during restoration projects, or genetic bottlenecks following harvesting, are leading to reductions in genetic diversity. In this study, we used microsatellite data to compare the genetic diversity of 19 P. australis stands in the UK, and found that neither size, management, nor habitat disturbance were affecting genetic diversity. Mixed reproduction (clonal and sexual), possibly combined with gene flow across relatively small spatial scales, appears to be maintaining genetic diversity within most stands. However, most stands were highly genetically differentiated from one another, which implies low gene flow. Long-term genetic diversity in managed stands may therefore require periodic bolstering from other populations, combined with the simultaneous cultivation of multiple generations. In addition, low gene flow suggests that managers should actively introduce plants into all areas in which reedbeds are desired. In conclusion, our study shows that reedbed restoration and maintenance do not seem to be adversely affecting the population genetics of P. australis, but the importance of genetic diversity should be factored into long-term projects.

Genetic Diversity Levels in Fishery-Exploited Spiny Lobsters of the Genus Palinurus (Decapoda: Achelata)

Abstract Most fisheries involving spiny lobsters of the genus Palinurus have been overexploited during the last decades, so there is a raising concern about management decisions for these valuable resources. A total of 13 microsatellite DNA loci recently developed in Palinurus elephas were assayed in order to assess genetic diversity levels in every known species of the genus. Microsatellite markers gave amplifications and showed polymorphism in all species, with gene diversity values varying from 0.650 ± 0.077 SD (Palinurus barbarae) to 0.792 ± 0.051 SD (Palinurus elephas). Most importantly, when depth distribution was taken into account, shallower water species consistently showed larger historical effective population sizes than their deeper-water counterparts. This could explain why deeper-water species are more sensitive to overfishing, and would indicate that overexploitation may have a larger impact on their long-term genetic diversity.

Relationships between demography and gene flow and their importance for the conservation of tree populations in tropical forests under selective felling regimes

Determining how tropical tree populations subject to selective felling (logging) pressure may be conserved is a crucial issue for forest management and studying this issue requires a comprehensive understanding of the relationships between population demography and gene flow. We used a simulation model, SELVA, to study (1) the relative impact of demographic factors (juvenile mortality, felling regime) and genetic factors (selfing, number and location of fathers, mating success) on long-term genetic diversity; and (2) the impact of different felling regimes on population size versus genetic diversity. Impact was measured by means of model sensitivity analyses. Juvenile mortality had the highest impact on the number of alleles and genotypes, and on the genetic distance between the original and final populations. Selfing had the greatest impact on observed heterozygote frequency and fixation index. Other factors and interactions had only minor effects. Overall, felling had a greater impact on population size than on genetic diversity. Interestingly, populations under relatively low felling pressure even had a somewhat lower fixation index than undisturbed populations (no felling). We conclude that demographic processes such as juvenile mortality should be modelled thoroughly to obtain reliable long-term predictions of genetic diversity. Mortality in selfed and outcrossed progenies should be modelled explicitly by taking inbreeding depression into account. The modelling of selfing based on population rate appeared to be oversimplifying and should account for inter-tree variation. Forest management should pay particular attention to the regeneration capacities of felled species.