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The island of Nias/Indonesia shows an extremely reduced genetic diversity indicating a strong founder effect. As a consequence, the prevalence of some disease genes should significantly differ among populations depending on the gene pool passed on to the founder population and their successive expansion as it has already been documented for several monogenic diseases. Results of the current study based on routine laboratory blood examination give rise to the notion that this might also hold true for polygenic disorders. We observed very high prevalence of hyperglycemia (non-fasting glucose above 200 mg/dL in 14 % Nias population compared to 1.5 % in the population of the neighboring island of Sumatra) accompanied by hypertriglyceridemia, high non-HDL-cholesterol, and low HDL-cholesterol levels. These findings suggest that the Nias population may be disproportionally affected by prediabetes and type 2 diabetes mellitus. By contrast, laboratory parameters potentially indicative of other polygenic disorders such as total plasma cholesterol, electrolytes, creatinine, urea, and uric acid were comparable between the inhabitants of Nias and Sumatra islands. To our knowledge this is the first study suggesting that the extremely strong genetic bottleneck seen in the Nias population translates into the widespread metabolic disease with potentially deleterious influence on public health.

The Seychelles magpie‐robin's (SMR) five island populations exhibit some of the lowest recorded levels of genetic diversity among endangered birds, and high levels of inbreeding. These populations collapsed during the 20th century, and the species was listed as Critically Endangered in the IUCN Red List in 1994. An assisted translocation‐for‐recovery program initiated in the 1990s increased the number of mature individuals, resulting in its downlisting to Endangered in 2005. Here, we explore the temporal genomic erosion of the SMR based on a dataset of 201 re‐sequenced whole genomes that span the past ~150 years. Our sample set includes individuals that predate the bottleneck by up to 100 years, as well as individuals from contemporary populations established during the species recovery program. Despite the SMR's recent demographic recovery, our data reveal a marked increase in both the genetic load and realized load in the extant populations when compared to the historical samples. Conservation management may have reduced the intensity of selection by increasing juvenile survival and relaxing intraspecific competition between individuals, resulting in the accumulation of loss‐of‐function mutations (i.e. severely deleterious variants) in the rapidly recovering population. In addition, we found a 3‐fold decrease in genetic diversity between temporal samples. While the low genetic diversity in modern populations may limit the species' adaptability to future environmental changes, future conservation efforts (including IUCN assessments) may also need to assess the threats posed by their high genetic load. Our computer simulations highlight the value of translocations for genetic rescue and show how this could halt genomic erosion in threatened species such as the SMR. [ABSTRACT FROM AUTHOR]

Summary: Between 1959 and 1988, three populations of purple-flowered terrestrial orchids attributable to Dactylorhiza subgenus Dactylorhiza were discovered in Canada. The populations at Timmins, Ontario, and St John's, Newfoundland were strongly marked on both flowers and leaves, in contrast with the anthocyanin-deficient population at Tilt Cove, Newfoundland. All three populations have since experienced a wide range of taxonomic assignments; debates are also ongoing regarding their origin and most appropriate conservation status. Here, we address these questions by combining detailed in situ morphometric analyses based on 52 characters with allozyme profiles and data from nrITS, 15 plastid microsatellites and seven nuclear microsatellites. The allozyme data alone are sufficient to both confirm allopolyploidy and categorically refute past assignments of these populations to D. incarnata, D. maculata, D. fuchsii, D. majalis or D. purpurella. Several morphometric characters, nuclear microsatellites and nrITS all reliably distinguish each of the three study populations, whereas the two sampled subpopulations from St John's proved near-identical morphologically. In contrast, morphological variation within each of the three populations is strikingly low, particularly in characters other than those influenced by plant vigour. Similarly, compared with 14 European populations, the three Canadian populations proved genetically impoverished (two were near-invariant) and likely experienced recent, extreme genetic bottlenecks during establishment. The three populations differ substantially, both morphologically and molecularly, therefore probably representing independent immigration events. Although clearly attributable to D. praetermissa, all three populations deviate significantly in morphology and DNA data from comparable populations sampled across Europe, preventing identification of their precise geographic origins. Any attempt to determine their mode or origin — through natural long-distance transport, or accidental or deliberate introduction by humans – is challenged to explain why three lineages of a single European Marsh-orchid species, each in different ways atypical of that species, arrived independently in North America whereas no other European dactylorchid species has become established there. [ABSTRACT FROM AUTHOR]

Introduction: Bottleneck events are crucial for the strength of genetic drift, selection and speed of evolution. They are believed to play a particularly prominent role for parasitic infrapopulations, inhabiting single host individuals, which are often established by very few parasite individuals during transmission. In vector-borne pathogens, the bottlenecking effects can even be serialized through repeated filtering of parasitic stages at different tissues and organs of the vector. Using qPCR we aimed to quantify the number of potentially transmittable sporozoites of the hemosporidian blood parasite Haemoproteus columbae in the specialized vector louse flies Pseudolynchia canariensis which transmit these parasites between house pigeon hosts Columba livia. Results: Based on qPCR measurements of organ-derived DNA of individual louse flies, we estimate that the midgut of these vectors contains on average 20 parasites, the hindgut and other intestines ca. 50 parasites and the salivary glands ca. 5 parasite cells. Nearly one third of all vector individuals appeared to lack parasite DNA, despite having only infected hosts as blood meal sources. The magnitude of parasite numbers in midgut and salivary glands tended to correlate positively. Discussion: Our results indicate, potential severe bottlenecking of parasite populations during individual transmission events and a probable effect of individual vector immunity on this variable. However, this may be partly alleviated by the coloniality of house pigeons, the frequency of louse flies and their daily feeding events in most populations, leading to repeated transmission opportunities, decreased quasi-vertical transmission between parents and offspring and probable panmixia of Haemoproteus columbae lineages. Many of these mechanisms might not apply in other host-vector systems. We propose several additional molecular and microscopical tools to improve the accuracy of estimating parasite population sizes in vectors and call for more estimations in different vector species to better understand the co-evolution between malarialike blood parasites and their avian and insect hosts. [ABSTRACT FROM AUTHOR]

Abstract The Seychelles magpie‐robin's (SMR) five island populations exhibit some of the lowest recorded levels of genetic diversity among endangered birds, and high levels of inbreeding. These populations collapsed during the 20th century, and the species was listed as Critically Endangered in the IUCN Red List in 1994. An assisted translocation‐for‐recovery program initiated in the 1990s increased the number of mature individuals, resulting in its downlisting to Endangered in 2005. Here, we explore the temporal genomic erosion of the SMR based on a dataset of 201 re‐sequenced whole genomes that span the past ~150 years. Our sample set includes individuals that predate the bottleneck by up to 100 years, as well as individuals from contemporary populations established during the species recovery program. Despite the SMR's recent demographic recovery, our data reveal a marked increase in both the genetic load and realized load in the extant populations when compared to the historical samples. Conservation management may have reduced the intensity of selection by increasing juvenile survival and relaxing intraspecific competition between individuals, resulting in the accumulation of loss‐of‐function mutations (i.e. severely deleterious variants) in the rapidly recovering population. In addition, we found a 3‐fold decrease in genetic diversity between temporal samples. While the low genetic diversity in modern populations may limit the species' adaptability to future environmental changes, future conservation efforts (including IUCN assessments) may also need to assess the threats posed by their high genetic load. Our computer simulations highlight the value of translocations for genetic rescue and show how this could halt genomic erosion in threatened species such as the SMR.

Many avian species endemic to Aotearoa New Zealand were driven to extinction or reduced to relict populations following successive waves of human arrival, due to hunting, habitat destruction and the introduction of mammalian predators. Among the affected species were the large flightless South Island takahē (Porphyrio hochstetteri) and the moho (North Island takahē; P. mantelli), with the latter rendered extinct and the former reduced to a single relictual population. Little is known about the evolutionary history of these species prior to their decline and/or extinction. Here we sequenced mitochondrial genomes from takahē and moho subfossils (12 takahē and 4 moho) and retrieved comparable sequence data from takahē museum skins (n = 5) and contemporary individuals (n = 17) to examine the phylogeny and recent evolutionary history of these species. Our analyses suggest that prehistoric takahē populations lacked deep phylogeographic structure, in contrast to moho, which exhibited significant spatial genetic structure, albeit based on limited sample sizes (n = 4). Temporal genetic comparisons show that takahē have lost much of their mitochondrial genetic diversity, likely due to a sudden demographic decline soon after human arrival (~750 years ago). Time‐calibrated phylogenetic analyses strongly support a sister species relationship between takahē and moho, suggesting these flightless taxa diverged around 1.5 million years ago, following a single colonisation of New Zealand by a flighted Porphyrio ancestor approximately 4 million years ago. This study highlights the utility of palaeogenetic approaches for informing the conservation and systematic understanding of endangered species whose ranges have been severely restricted by anthropogenic impacts. [ABSTRACT FROM AUTHOR]

Pikeperch (Sander lucioperca Linnaeus, 1758) is a wide-ranged percid predator fish characterised by a great ecological value in the Eurasian freshwater and brackish ecosystems. It is also one of the most famous fish species of Lake Balaton (Hungary), where a unique (genetically separated) pikeperch stock lives. However, until now, no detailed information was available about the pikeperch population genetic structure in Lake Balaton. In the present study, the population genetic structure of the pikeperch assemblages in the lake was revealed by using microsatellite markers. Commercial fishery and angler catch data going back more than 100 years verified that the pikeperch has always been a key element of Lake Balaton's fish stock utilization. Results of genetic data analyses showed that the pikeperch in the Lake Balaton forms a metapopulation system, in which only the westward stocks show certain separation. Moreover, it seems that the exploitation and mass fish kills that happened in the 1960s and 1970s may have had only a slight impact on the population genetic structure of Balaton pikeperch stocks. The information about genetic features and utilization changes of pikeperch stocks can help to develop area-specific management plans and ensure the long-term survival of this carnivore fish species characteristic of Lake Balaton. [ABSTRACT FROM AUTHOR]

IntroductionBottleneck events are crucial for the strength of genetic drift, selection and speed of evolution. They are believed to play a particularly prominent role for parasitic infrapopulations, inhabiting single host individuals, which are often established by very few parasite individuals during transmission. In vector-borne pathogens, the bottlenecking effects can even be serialized through repeated filtering of parasitic stages at different tissues and organs of the vector. Using qPCR we aimed to quantify the number of potentially transmittable sporozoites of the hemosporidian blood parasite Haemoproteus columbae in the specialized vector louse flies Pseudolynchia canariensis which transmit these parasites between house pigeon hosts Columba livia.ResultsBased on qPCR measurements of organ-derived DNA of individual louse flies, we estimate that the midgut of these vectors contains on average 20 parasites, the hindgut and other intestines ca. 50 parasites and the salivary glands ca. 5 parasite cells. Nearly one third of all vector individuals appeared to lack parasite DNA, despite having only infected hosts as blood meal sources. The magnitude of parasite numbers in midgut and salivary glands tended to correlate positively.DiscussionOur results indicate, potential severe bottlenecking of parasite populations during individual transmission events and a probable effect of individual vector immunity on this variable. However, this may be partly alleviated by the coloniality of house pigeons, the frequency of louse flies and their daily feeding events in most populations, leading to repeated transmission opportunities, decreased quasi-vertical transmission between parents and offspring and probable panmixia of Haemoproteus columbae lineages. Many of these mechanisms might not apply in other host-vector systems. We propose several additional molecular and microscopical tools to improve the accuracy of estimating parasite population sizes in vectors and call for more estimations in different vector species to better understand the co-evolution between malaria-like blood parasites and their avian and insect hosts.

Abstract Background Anaplasma phagocytophilum is a tick-vectored, obligately intracellular bacterium that infects a diversity of vertebrate hosts. In North America, the Ap-ha variant of A. phagocytophilum can cause dangerous infections in humans, whereas symptomatic human infections in Europe are rare. Conversely, the European host-generalist ecotype of A. phagocytophilum frequently causes illness in domestic ruminants while no comparable infections have been recorded from North America. Despite these differences in pathogenicity, the Ap-ha variant is closely aligned phylogenetically with the European host-generalist ecotype. Furthermore, North American populations of A. phagocytophilum are less genetically diverse than those in Europe. Taken together, these observations suggest that the North American Ap-ha variant may represent an introduced population of this bacterium. Methods Data from publicly available whole genomes of A. phagocytophilum were used to compare phylogeographic patterns and the extent of genetic divergence between the North American Ap-ha variant and the European host-generalist ecotype. Results The results confirm that North American Ap-ha samples are phylogenetically nested within the diversity of the European host-generalist ecotype, and that Ap-ha likely radiated within the last 100 years. As expected, the Ap-ha variant also exhibited relatively low genetic diversity levels compared to the European host-generalist ecotype. Finally, North American Ap-ha harbored significantly more derived alleles than the European host-generalist A. phagocytophilum population. Conclusions Collectively, these results support the hypothesis that the Ap-ha variant was recently introduced to North America from Europe and underwent a strong genetic bottleneck during this process (i.e. a ‘founder event’). Adaptation to novel vectors may have also played a role in shaping genetic diversity and divergence patterns in these pathogenic bacteria. These findings have implications for future studies aimed at understanding evolutionary patterns and pathogenicity variation within A. phagocytophilum. Graphical Abstract

Background: Anaplasma phagocytophilum is a tick-vectored, obligately intracellular bacterium that infects a diversity of vertebrate hosts. In North America, the Ap-ha variant of A. phagocytophilum can cause dangerous infections in humans, whereas symptomatic human infections in Europe are rare. Conversely, the European host-generalist ecotype of A. phagocytophilum frequently causes illness in domestic ruminants while no comparable infections have been recorded from North America. Despite these differences in pathogenicity, the Ap-ha variant is closely aligned phylogenetically with the European host-generalist ecotype. Furthermore, North American populations of A. phagocytophilum are less genetically diverse than those in Europe. Taken together, these observations suggest that the North American Ap-ha variant may represent an introduced population of this bacterium. Methods: Data from publicly available whole genomes of A. phagocytophilum were used to compare phylogeographic patterns and the extent of genetic divergence between the North American Ap-ha variant and the European host-generalist ecotype. Results: The results confirm that North American Ap-ha samples are phylogenetically nested within the diversity of the European host-generalist ecotype, and that Ap-ha likely radiated within the last 100 years. As expected, the Ap-ha variant also exhibited relatively low genetic diversity levels compared to the European host-generalist ecotype. Finally, North American Ap-ha harbored significantly more derived alleles than the European host-generalist A. phagocytophilum population. Conclusions: Collectively, these results support the hypothesis that the Ap-ha variant was recently introduced to North America from Europe and underwent a strong genetic bottleneck during this process (i.e. a 'founder event'). Adaptation to novel vectors may have also played a role in shaping genetic diversity and divergence patterns in these pathogenic bacteria. These findings have implications for future studies aimed at understanding evolutionary patterns and pathogenicity variation within A. phagocytophilum. [ABSTRACT FROM AUTHOR]

A species' success during the invasion of new areas hinges on an interplay between the demographic processes common to invasions and the specific ecological context of the novel environment. Evolutionary genetic studies of invasive species can investigate how genetic bottlenecks and ecological conditions shape genetic variation in invasions, and our study pairs two invasive populations that are hypothesized to be from the same source population to compare how each population evolved during and after introduction. Invasive European starlings (Sturnus vulgaris) established populations in both Australia and North America in the 19th century. Here, we compare whole‐genome sequences among native and independently introduced European starling populations to determine how demographic processes interact with rapid evolution to generate similar genetic patterns in these recent and replicated invasions. Demographic models indicate that both invasive populations experienced genetic bottlenecks as expected based on invasion history, and we find that specific genomic regions have differentiated even on this short evolutionary timescale. Despite genetic bottlenecks, we suggest that genetic drift alone cannot explain differentiation in at least two of these regions. The demographic boom intrinsic to many invasions as well as potential inversions may have led to high population‐specific differentiation, although the patterns of genetic variation are also consistent with the hypothesis that this infamous and highly mobile invader adapted to novel selection (e.g., extrinsic factors). We use targeted sampling of replicated invasions to identify and evaluate support for multiple, interacting evolutionary mechanisms that lead to differentiation during the invasion process. [ABSTRACT FROM AUTHOR]

In summer 2011, Tropical storms Lee and Irene caused an estimated 90% decline of the submersed aquatic plant Vallisneria americana Michx. (Hydrocharitaceae) in the Hudson River of New York (USA). To understand the genetic impact of such large‐scale demographic losses, we compared diversity at 10 microsatellite loci in 135 samples collected from five sites just before the storms with 239 shoots collected from nine sites 4 years after. Although 80% of beds sampled in 2011 lacked V. americana in 2015, we found similar genotypic and genetic diversity and effective population sizes in pre‐storm versus post‐storm sites. These similarities suggest that despite local extirpations concentrated at the upstream end of the sampling area, V. americana was regionally resistant to genetic losses. Similar geographically based structure among sites in both sampling periods suggested that cryptic local refugia at previously occupied sites facilitated re‐expansion after the storms. However, this apparent resistance to disturbance may lead to a false sense of security. Low effective population sizes and high clonality in both time periods suggest that V. americana beds were already small and had high frequency of asexual reproduction before the storms. Dispersal was not sufficient to recolonize more isolated sites that had been extirpated. Chronic low diversity and reliance on asexual reproduction for persistence can be risky when more frequent and intense storms are paired with ongoing anthropogenic stressors. Monitoring genetic diversity along with extent and abundance of V. americana will give a more complete picture of long‐term potential for resilience. [ABSTRACT FROM AUTHOR]

In the present study, it was aimed to reveal the genetic diversity and bottleneck status of Karacabey Merino sheep with the help of 14 microsatellite markers recommended by the FAO. The study was carried out in a sheep breeding farm in Bandırma and 103 unrelated Karacabey merino sheep. The microsatellites used in this study showed high levels of polymorphism. A total of 290 alleles were detected in this study. The mean values of polymorphic information content (PIC=0.90), observed heterozygosity (Ho=0.89) and expected heterozygosity (He=0.91) were high, suggesting that the total analysed population is characterized by noticeable genetic variability. Ten out of the fourteen microsatellite markers studied had a positive FIS value. The mean value of FIS was 0.032. The infinite allele model (IAM), two-phase mutation model (TPM) and stepwise mutation model (SMM) in the Bottleneck software were used to check genetic bottlenecks. The L-shaped curve obtained from the analysis indicates the absence of a bottleneck in the Karacabey Merino sheep population studied.

Abstract In summer 2011, Tropical storms Lee and Irene caused an estimated 90% decline of the submersed aquatic plant Vallisneria americana Michx. (Hydrocharitaceae) in the Hudson River of New York (USA). To understand the genetic impact of such large‐scale demographic losses, we compared diversity at 10 microsatellite loci in 135 samples collected from five sites just before the storms with 239 shoots collected from nine sites 4 years after. Although 80% of beds sampled in 2011 lacked V. americana in 2015, we found similar genotypic and genetic diversity and effective population sizes in pre‐storm versus post‐storm sites. These similarities suggest that despite local extirpations concentrated at the upstream end of the sampling area, V. americana was regionally resistant to genetic losses. Similar geographically based structure among sites in both sampling periods suggested that cryptic local refugia at previously occupied sites facilitated re‐expansion after the storms. However, this apparent resistance to disturbance may lead to a false sense of security. Low effective population sizes and high clonality in both time periods suggest that V. americana beds were already small and had high frequency of asexual reproduction before the storms. Dispersal was not sufficient to recolonize more isolated sites that had been extirpated. Chronic low diversity and reliance on asexual reproduction for persistence can be risky when more frequent and intense storms are paired with ongoing anthropogenic stressors. Monitoring genetic diversity along with extent and abundance of V. americana will give a more complete picture of long‐term potential for resilience.

Infectious diseases can cause steep declines in wildlife populations, leading to changes in genetic diversity that may affect the susceptibility of individuals to infection and the overall resilience of populations to pathogen outbreaks. Here, we examine evidence for a genetic bottleneck in a population of American crows (Corvus brachyrhynchos) before and after the emergence of West Nile virus (WNV). More than 50% of marked birds in this population were lost over the 2‐year period of the epizootic, representing a 10‐fold increase in adult mortality. Using analyses of single‐nucleotide polymorphisms (SNPs) and microsatellite markers, we tested for evidence of a genetic bottleneck and compared levels of inbreeding and immigration in the pre‐ and post‐WNV populations. Counter to expectations, genetic diversity (allelic diversity and the number of new alleles) increased after WNV emergence. This was likely due to increases in immigration, as the estimated membership coefficients were lower in the post‐WNV population. Simultaneously, however, the frequency of inbreeding appeared to increase: Mean inbreeding coefficients were higher among SNP markers, and heterozygosity–heterozygosity correlations were stronger among microsatellite markers, in the post‐WNV population. These results indicate that loss of genetic diversity at the population level is not an inevitable consequence of a population decline, particularly in the presence of gene flow. The changes observed in post‐WNV crows could have very different implications for their response to future pathogen risks, potentially making the population as a whole more resilient to a changing pathogen community, while increasing the frequency of inbred individuals with elevated susceptibility to disease. [ABSTRACT FROM AUTHOR]

Whooper swans have two old and new populations, the new population has reported since 2007. The current study aimed to investigate the genetic structure of this species and compare their gene pool, especially the new population. For this purpose, 110 samples from Iran and four European countries were analyzed, using six microsatelite loci. In addition to the samples of the emerging population in Fereydoonkenar International Wetland and the old population of Gilan, samples from Iceland, Sweden, Finland and Poland were also examined. The observed average heterozygosity ranged from 0.598 to 1.0 and the expected heterozygosity ranged from 0.661 to 0.950. Iceland in the extreme west of Palearctic had the highest observed heterozygosity of 1.0 and Iran in the easternmost part of the study area had the highest effective allele frequency (12.72). Also, the population of Iran showed deviation from Hardy-Weinberg equilibrium, except for one loci. Based on the STRUCTURE 2.3.4 results, the Iranian swan population had the highest gene flow due to the high dispersion of breeding colonies in northern latitudes. Therefore, the autumn and winter migrant swans have two populations in Fereydunkanar and one separate population in Guilan. Generally, the high allelic richness in the new population indicates a high conservation value of the Fereydoonkenar wintering colony.

Abstract Background The successful establishment of a species population following a single introduction of a few individuals to a non-native area has been limited. Nevertheless, the oriental fire-bellied toad (Bombina orientalis) population in Beijing is purportedly descended from a single introduction of about 200 individuals translocated from Yantai, Shandong Province, China, in 1927. Results To resolve the introduction process and to understand the genetic consequences since that introduction approximately 90 years ago, we investigated the population’s genetic diversity and structure using 261 toads from Beijing and two native Shandong populations and inferred the species’ introduction history using simulation-based approaches. Analysis of mitochondrial DNA (mtDNA) sequences showed the two haplotypes found in Beijing nested within Yantai haplotypes, thus corroborating the historical record of the translocation source. The mtDNA and 11 nuclear microsatellite markers revealed both considerably lower genetic diversity in Beijing than in the source population and strong genetic differentiation between them. Although the current census population in Beijing may be in the range of a few thousand, the effective population size was estimated at only 20–57. Simulations also suggest that this population may have descended from 40–60 founders. Conclusions The Beijing population’s genetic patterns were consistent with the consequences of a severe bottleneck during introduction followed by genetic drift. The introduction trajectory constructed for this B. orientalis population reveals the genetic footprints of a small population sustained in isolation for nearly a century. Our results provide an intriguing example of establishment success from limited founders and may inform ex situ conservation efforts as well as the management of biological invasions.

Species at the periphery of their range are typically limited in density by poor habitat quality. As a result, the central–marginal hypothesis (CMH) predicts a decline in genetic diversity of populations toward the periphery of a species' range. Grizzly bears (Ursus arctos) once ranged throughout most of North America but have been extirpated from nearly half of their former range, mainly in the south. They are considered a species at risk even in Canada's remote North, where they occupy the northernmost edge of the species' continental distribution in a low‐productivity tundra environment. With climate change, one of their main prey species in the tundra (caribou), which has always shown yearly fluctuations, is declining, but simultaneously, grizzlies appear to be expanding their range northward in the same tundra environment. Yet, a lack of population density estimates across the North is hindering effective conservation action. The CMH has implications for the viability of peripheral populations, and the links between population fluctuations, potential bottlenecks, and genetic diversity need to be determined to contribute to species' conservation. Using noninvasive genetic sampling from 2012 to 2014 and autosomal DNA genotyping (via microsatellites), we estimated bear density using a spatial capture–recapture framework and analyzed genetic diversity using observed heterozygosity (Ho), allelic richness (AR), and expected heterozygosity (He). We compared our findings to other studies that used comparable methodologies on grizzly bears and a related species (black bears; Ursus americanus). We found densities of grizzly bears that were low for the species but characteristic for the region (5.9 ± 0.4 bears/1000 km2), but with high Ho (0.81 ± 0.05), AR (7 ± 0.78), and He (0.71 ± 0.03), despite a signal of recent bottlenecks. In both species, peripherality was not correlated with Ho but was negatively correlated with density. We suggest that the apparent growth of this expanding population of grizzlies offsets the negative impacts of recent bottlenecks on Ho. Indigenous knowledge provides historical context (on the order of centuries, e.g., arctic large mammal fluctuations, grizzly bear bottlenecks) for the current bear population dynamics (on the order of decades, e.g., climate change, northern grizzly bear expansion). [ABSTRACT FROM AUTHOR]

In the present study, it was aimed to reveal the genetic diversity and bottleneck status of Karacabey Merino sheep with the help of 14 microsatellite markers recommended by the FAO. The study was carried out in a sheep breeding farm in Bandırma and 103 unrelated Karacabey merino sheep. The microsatellites used in this study showed high levels of polymorphism. A total of 290 alleles were detected in this study. The mean values of polymorphic information content (PIC=0.90), observed heterozygosity (Ho=0.89) and expected heterozygosity (He=0.91) were high, suggesting that the total analysed population is characterized by noticeable genetic variability. Ten out of the fourteen microsatellite markers studied had a positive FIS value. The mean value of FIS was 0.032. The infinite allele model (IAM), two-phase mutation model (TPM) and stepwise mutation model (SMM) in the Bottleneck software were used to check genetic bottlenecks. The L-shaped curve obtained from the analysis indicates the absence of a bottleneck in the Karacabey Merino sheep population studied. [ABSTRACT FROM AUTHOR]

To better understand the transmission of human immunodeficiency virus type 1 (HIV-1), the genetic characteristics of blood and genital viruses from males were compared to those of the imputed founding virus population in their female partners. Initially serodiscordant heterosexual African couples with sequence-confirmed male-to-female HIV-1 transmission and blood and genital specimens collected near the time of transmission were studied. Single viral templates from blood plasma and genital tract RNA and DNA were sequenced across HIV-1 env gp160. Eight of 29 couples examined yielded viral sequences from both tissues. Analysis of these couples' sequences demonstrated, with one exception, that the women's founding viral populations arose from a single viral variant and were CCR5 tropic, even though CXCR4 variants were detected within four males. The median genetic distance of the imputed most recent common ancestor of the women's founder viruses showed that they were closer to the semen viruses than to the blood viruses of their transmitting male partner, but this finding was biased by detection of a greater number of viral clades in the blood. Using multiple assays, the blood and genital viruses were consistently found to be compartmentalized in only two of eight men. No distinct amino acid signatures in the men's viruses were found to link to the women's founders, nor did the women's env sequences have shorter variable loops or fewer N-linked glycosylation sites. The lack of selective factors, except for coreceptor tropism, is consistent with others' findings in male-to-female and high-risk transmissions. The infrequent compartmentalization between the transmitters' blood and semen viruses suggests that cell-free blood virus likely includes HIV-1 sequences representative of those of viruses in semen.IMPORTANCE Mucosal transmissions account for the majority of HIV-1 infections. Identification of the viral characteristics associated with transmission would facilitate vaccine design. This study of HIV strains from transmitting males and their seroconverting female partners found that the males' genital tract viruses were rarely distinct from the blood variants. The imputed founder viruses in women were genetically similar to both the blood and genital tract variants of their male partners, indicating a lack of evidence for genital tract-specific lineages. These findings suggest that targeting vaccine responses to variants found in blood are likely to also protect from genital tract variants.

IntroductionA small percentage of Alzheimer's disease (AD) cases are caused by genetic mutations with autosomal dominant inheritance. We report a family with a novel variant in PSEN1.MethodsWe performed clinical and genetic evaluation of 93 related individuals from a Colombian admixed population. 31 individuals had whole-genome sequencing.ResultsGenetic analysis revealed a missense variant in PSEN1 (NM_000021.3: c.1247T>C p.Ile416Thr), which originated on an African haplotype and segregated with AD logarithm of the odds score of 6. Their clinical phenotype is similar to sporadic AD except for earlier age at onset: the mean age at onset for mild cognitive impairment was 47.6 years (standard deviation 5.83) and for dementia 51.6 years (standard deviation 5.03).DiscussionIle416Thr is a novel pathogenic variant that causes AD in the sixth decade of life. The history of the region that included slave importation and admixtures within a confined geographic locale represents a "mini-population bottleneck" and subsequent emergence of a rare dominant mutation.

Abstract Species at the periphery of their range are typically limited in density by poor habitat quality. As a result, the central–marginal hypothesis (CMH) predicts a decline in genetic diversity of populations toward the periphery of a species' range. Grizzly bears (Ursus arctos) once ranged throughout most of North America but have been extirpated from nearly half of their former range, mainly in the south. They are considered a species at risk even in Canada's remote North, where they occupy the northernmost edge of the species' continental distribution in a low‐productivity tundra environment. With climate change, one of their main prey species in the tundra (caribou), which has always shown yearly fluctuations, is declining, but simultaneously, grizzlies appear to be expanding their range northward in the same tundra environment. Yet, a lack of population density estimates across the North is hindering effective conservation action. The CMH has implications for the viability of peripheral populations, and the links between population fluctuations, potential bottlenecks, and genetic diversity need to be determined to contribute to species' conservation. Using noninvasive genetic sampling from 2012 to 2014 and autosomal DNA genotyping (via microsatellites), we estimated bear density using a spatial capture–recapture framework and analyzed genetic diversity using observed heterozygosity (Ho), allelic richness (AR), and expected heterozygosity (He). We compared our findings to other studies that used comparable methodologies on grizzly bears and a related species (black bears; Ursus americanus). We found densities of grizzly bears that were low for the species but characteristic for the region (5.9 ± 0.4 bears/1000 km2), but with high Ho (0.81 ± 0.05), AR (7 ± 0.78), and He (0.71 ± 0.03), despite a signal of recent bottlenecks. In both species, peripherality was not correlated with Ho but was negatively correlated with density. We suggest that the apparent growth of this expanding population of grizzlies offsets the negative impacts of recent bottlenecks on Ho. Indigenous knowledge provides historical context (on the order of centuries, e.g., arctic large mammal fluctuations, grizzly bear bottlenecks) for the current bear population dynamics (on the order of decades, e.g., climate change, northern grizzly bear expansion).

Simple Summary: Due to its large size and importance in commercial and recreational fishery, the blue crab, Callinectes sapidus, has always been a well-known crab species all along the temperate and tropical American east coast. Over the past century, there have been increasing reports of this species from Africa, Asia, and Europe. However, the corresponding introduction pathways remain a reason for speculation. Its long larval development in marine plankton and tolerance towards varying salinities are prerequisites for a successful dispersal by marine currents or in ballast waters. On the other hand, being a highly valued seafood, it is conceivable that C. sapidus may have been intentionally released to establish breeding populations elsewhere. The species started expanding conspicuously in the east Mediterranean after the 1930s (Nile Delta, Thessaloniki Bay). On the other hand, western Mediterranean records are much more recent and regionally confined. The reconstruction of their origin is the main goal of the current study. For that purpose, the genetic composition of populations from the American native range and from the entire Mediterranean needed to be included and used for the overall comparison. It appears that only a few founding individuals are responsible for the invasion into Spanish and Italian waters, arguing in favor of a dispersal theory. The American blue crab Callinectes sapidus is a particularly successful invader in estuarine ecosystems worldwide. Despite increasing awareness of its potential harm, the invasion history and underlying genetic diversity of this species within the Mediterranean Sea remain unknown. This study constitutes the first large-scale approach to study phylogeographic patterns of C. sapidus in Europe, facilitated by the first comparison of all currently available COI sequence data. For this investigation, 71 individuals of C. sapidus were newly analyzed and the entire COI gene was sequenced and used for a comparative phylogeographic analyses. For the first time, two separately used adjacent regions of this gene were combined in a single dataset. This allowed emphasizing the prevalence of three geographically defined lineages within the native range: (1) eastern North America, including the Gulf of Mexico, (2) the Caribbean, and (3) Brazil. New data from the Mediterranean reveal that non-native populations of C. sapidus are characterized by a conspicuously low genetic diversity (except for Turkey, where stocking took place), and that there is surprisingly low connectivity among established populations. The occurrence of strong genetic bottlenecks suggests few founder individuals. This confirms that, even under a scenario of restricted large-scale gene flow, a very limited number of invasive individuals is sufficient for a massive impact. [ABSTRACT FROM AUTHOR]

Global commerce and transportation facilitate the spread of invasive species. The African big‐headed ant, Pheidole megacephala (Fabricius), has achieved worldwide distribution through globalization. Since the late 19th century, Taiwan has served as a major seaport because of its strategic location. The population genetic structure of P. megacephala in Taiwan is likely to be shaped by international trade and migration between neighboring islands. In this study, we investigated the population genetics of P. megacephala colonies sampled from four geographical regions in Taiwan and elucidated the population genetic structures of P. megacephala sampled from Taiwan, Okinawa, and Hawaii. We observed a low genetic diversity of P. megacephala across regions in Taiwan. Moreover, we noted low regional genetic differentiation and did not observe isolation by distance, implying that long‐distance jump dispersal might have played a crucial role in the spread of P. megacephala. We sequenced the partial cytochrome oxidase I gene and observed three mitochondrial haplotypes (TW1–TW3). TW1 and TW3 most likely originated from populations within the species' known invasive range, suggesting that secondary introduction is the predominant mode of introduction for this invasive ant. TW2 represents a novel haplotype that was previously unreported in other regions. P. megacephala populations from Taiwan, Okinawa, and Hawaii exhibited remarkable genetic similarity, which may reflect their relative geographic proximity and the historical connectedness of the Asia‐Pacific region. [ABSTRACT FROM AUTHOR]

The coffee species Coffea arabica is facing numerous challenges regarding climate change, pests and disease pressure. Improved varieties will be part of the solution. Making optimal use of the scarce genetic diversity of the species is hence essential. In this paper, we present the first study of C. arabica genetic diversity covering its complete native habitat in Ethiopia together with its main domestication centers: Yemen and Hararghe region in Ethiopia. All in all, 555 samples were analyzed with a set of Single Sequence Repeat markers. Through admixture genetic analysis, six clusters were identified. A total of two "Core Ethiopian" clusters did not participate in the domestication of the species. There were four clusters that were part of the "Domestication Pathway" of C. arabica. The first one was named "Ethiopian Legacy" as it represents the genetic link between "Core Ethiopia" and the "Domestication Pathway" in Yemen and Hararghe. The geographic origin of this cluster in Ethiopia was the south of Ethiopia, namely Gedio, Guji and Sidama, which hence appears as the source of coffee seeds that led to the domestication of C. arabica. In Yemen, in addition to the "Ethiopian Legacy" cluster, we confirmed the "Typica/Bourbon" and "New-Yemen" clusters. In Hararghe, the "Harrar" cluster, never described before, likely originates from a re-introduction of domesticated coffee from Yemen into this region of Ethiopia. Cultivated varieties around the world today originate from the "Ethiopian Legacy" and "Typica/Bourbon" clusters and but none are related to the "new-Yemen" and "Harrar" clusters. Implications for breeding strategies are discussed. [ABSTRACT FROM AUTHOR]

Gracilaria chilensis is the main cultivated seaweed in Chile. The low genetic diversity observed in the Chilean populations has been associated with the over‐exploitation of natural beds and/or the founder effect that occurred during post‐glacial colonization from New Zealand. How these processes have affected its evolutionary trajectory before farming and incipient domestication is poorly understood. In this study, we used 2232 single nucleotide polymorphisms (SNPs) to assess how the species' evolutionary history in New Zealand (its region of origin), the founder effect linked to transoceanic dispersion and colonization of South America, and the recent over‐exploitation of natural populations have influenced the genetic architecture of G. chilensis in Chile. The contrasting patterns of genetic diversity and structure observed between the two main islands in New Zealand attest to the important effects of Quaternary glacial cycles on G. chilensis. Approximate Bayesian Computation (ABC) analyses indicated that Chatham Island and South America were colonized independently near the end of the Last Glacial Maximum and emphasized the importance of coastal and oceanic currents during that period. Furthermore, ABC analyses inferred the existence of a recent and strong genetic bottleneck in Chile, matching the period of over‐exploitation of the natural beds during the 1970s, followed by rapid demographic expansion linked to active clonal propagation used in farming. Recurrent genetic bottlenecks strongly eroded the genetic diversity of G. chilensis prior to its cultivation, raising important challenges for the management of genetic resources in this incipiently domesticated species. [ABSTRACT FROM AUTHOR]

Whooper swans have two old and new populations, the new population has reported since 2007. The current study aimed to investigate the genetic structure of this species and compare their gene pool, especially the new population. For this purpose, 110 samples from Iran and four European countries were analyzed, using six microsatelite loci. In addition to the samples of the emerging population in Fereydoonkenar International Wetland and the old population of Gilan, samples from Iceland, Sweden, Finland and Poland were also examined. The observed average heterozygosity ranged from 0.598 to 1.0 and the expected heterozygosity ranged from 0.661 to 0.950. Iceland in the extreme west of Palearctic had the highest observed heterozygosity of 1.0 and Iran in the easternmost part of the study area had the highest effective allele frequency (12.72). Also, the population of Iran showed deviation from Hardy-Weinberg equilibrium, except for one loci. Based on the STRUCTURE 2.3.4 results, the Iranian swan population had the highest gene flow due to the high dispersion of breeding colonies in northern latitudes. Therefore, the autumn and winter migrant swans have two populations in Fereydunkanar and one separate population in Guilan. Generally, the high allelic richness in the new population indicates a high conservation value of the Fereydoonkenar wintering colony. [ABSTRACT FROM AUTHOR]

The host range of a given parasitoid species is shaped by host acceptance and suitability traits of the host and parasitoid species, which can themselves be influenced by the parasitoid genotype. However, during biological control introductions, relatively few parasitoid individuals are introduced into a new geographic region and the resulting founder event may alter their ability to attack and parasitize various host species. The aphid parasitoid Lysiphlebus testaceipes is native to the Nearctic region and was introduced from Cuba to Southern Europe in the early 1970s to control two aphid pests of Citrus. We compared parasitoid preference and performance between members of introduced (French) and native (North American) populations of L. testaceipes on 16 aphid species and found differences in various aspects of host specificity. Individuals of the French population exhibited lower virulence overall than individuals of the North American population did. In particular, French L. testaceipes exhibited a lower capability to complete development within five aphid species than North American L. testaceipes did. F1 offspring of crosses between the two parasitoid populations demonstrated significant improvements in virulence on an aphid species on which members of the French parental population exhibited poor virulence. This suggests a relatively simple genetic basis of these performance traits in L. testaceipes. [ABSTRACT FROM AUTHOR]

Abstract Background Uncovering the mechanisms underlying rapid genetic adaptation can provide insight into adaptive evolution and shed light on conservation, invasive species control, and natural resource management. However, it can be difficult to experimentally explore rapid adaptation due to the challenges associated with propagating and maintaining species in captive environments for long periods of time. By contrast, many introduced species have experienced strong selection when colonizing environments that differ substantially from their native range and thus provide a “natural experiment” for studying rapid genetic adaptation. One such example occurred when sea lamprey (Petromyzon marinus), native to the northern Atlantic, naturally migrated into Lake Champlain and expanded their range into the Great Lakes via man-made shipping canals. Results Utilizing 368,886 genome-wide single nucleotide polymorphisms (SNPs), we calculated genome-wide levels of genetic diversity (i.e., heterozygosity and π) for sea lamprey collected from native (Connecticut River), native but recently colonized (Lake Champlain), and invasive (Lake Michigan) populations, assessed genetic differentiation between all populations, and identified candidate genes that responded to selection imposed by the novel environments. We observed a 14 and 24% reduction in genetic diversity in Lake Michigan and Lake Champlain populations, respectively, compared to individuals from the Connecticut River, suggesting that sea lamprey populations underwent a genetic bottleneck during colonization. Additionally, we identified 121 and 43 outlier genes in comparisons between Lake Michigan and Connecticut River and between Lake Champlain and Connecticut River, respectively. Six outlier genes that contained synonymous SNPs in their coding regions and two genes that contained nonsynonymous SNPs may underlie the rapid evolution of growth (i.e., GHR), reproduction (i.e., PGR, TTC25, STARD10), and bioenergetics (i.e., OXCT1, PYGL, DIN4, SLC25A15). Conclusions By identifying the genomic basis of rapid adaptation to novel environments, we demonstrate that populations of invasive species can be a useful study system for understanding adaptive evolution. Furthermore, the reduction in genome-wide levels of genetic diversity associated with colonization coupled with the identification of outlier genes underlying key life history traits known to have changed in invasive sea lamprey populations (e.g., growth, reproduction) illustrate the utility in applying genomic approaches for the successful management of introduced species.

Allohexaploidization and continuous introgression play a key role in the origin and evolution of bread wheat. The genetic bottleneck of bread wheat resulting from limited germplasms involved in the origin and modern breeding may be compensated by gene flow from tetraploid wheat through introgressive hybridization. The inter-ploidy hybridization between hexaploid and tetraploid wheat generates pentaploid hybrids first, which absorbed genetic variations both from hexaploid and tetraploid wheat and have great potential for re-evolution and improvement in bread wheat. Therefore, understanding the effects of the pentaploid hybrid is of apparent significance in our understanding of the historic introgression and in informing breeding. In the current study, two sets of F2 populations of synthetic pentaploid wheat (SPW1 and SPW2) and synthetic hexaploid wheat (SHW1 and SHW2) were created to analyze differences in recombination frequency (RF) of AB genomes and distorted segregation of polymorphic SNP markers through SNP genotyping. Results suggested that (1) the recombination of AB genomes in the SPW populations was about 3- to 4-fold higher than that in the SHW populations, resulting from the significantly (P < 0.01) increased RF between adjacent and linked SNP loci, especially the variations that occurred in a pericentromeric region which would further enrich genetic diversity; (2) the crosses of hexaploid × tetraploid wheat could be an efficient way to produce pentaploid derivatives than the crosses of tetraploid × hexaploid wheat according to the higher germination rate found in the former crosses; (3) the high proportion of distorted segregation loci that skewed in favor of the female parent genotype/allele in the SPW populations might associate with the fitness and survival of the offspring. Based on the presented data, we propose that pentaploid hybrids should increasingly be used in wheat breeding. In addition, the contribution of gene flow from tetraploid wheat to bread wheat mediated by pentaploid introgressive hybridization also was discussed in the re-evolution of bread wheat. [ABSTRACT FROM AUTHOR]

Allohexaploidization and continuous introgression play a key role in the origin and evolution of bread wheat. The genetic bottleneck of bread wheat resulting from limited germplasms involved in the origin and modern breeding may be compensated by gene flow from tetraploid wheat through introgressive hybridization. The inter-ploidy hybridization between hexaploid and tetraploid wheat generates pentaploid hybrids first, which absorbed genetic variations both from hexaploid and tetraploid wheat and have great potential for re-evolution and improvement in bread wheat. Therefore, understanding the effects of the pentaploid hybrid is of apparent significance in our understanding of the historic introgression and in informing breeding. In the current study, two sets of F2 populations of synthetic pentaploid wheat (SPW1 and SPW2) and synthetic hexaploid wheat (SHW1 and SHW2) were created to analyze differences in recombination frequency (RF) of AB genomes and distorted segregation of polymorphic SNP markers through SNP genotyping. Results suggested that (1) the recombination of AB genomes in the SPW populations was about 3- to 4-fold higher than that in the SHW populations, resulting from the significantly (P < 0.01) increased RF between adjacent and linked SNP loci, especially the variations that occurred in a pericentromeric region which would further enrich genetic diversity; (2) the crosses of hexaploid × tetraploid wheat could be an efficient way to produce pentaploid derivatives than the crosses of tetraploid × hexaploid wheat according to the higher germination rate found in the former crosses; (3) the high proportion of distorted segregation loci that skewed in favor of the female parent genotype/allele in the SPW populations might associate with the fitness and survival of the offspring. Based on the presented data, we propose that pentaploid hybrids should increasingly be used in wheat breeding. In addition, the contribution of gene flow from tetraploid wheat to bread wheat mediated by pentaploid introgressive hybridization also was discussed in the re-evolution of bread wheat.

Introduced species are a significant global concern because they can disrupt native ecosystems and cause economic damage to agricultural systems and infrastructure. The mitochondrial DNA (mtDNA) diversity of invasive populations can help to identify the source and number of incursions and reveal whether these populations have maintained standing genetic variation that might allow mitochondrial genomes to adapt to new environments. We investigated mitochondrial diversity in native and invasive populations of the Asian honey bee (Apis cerana). We generated 144 sequences of mitochondrial cytochrome c oxidase subunit I (COI) from samples spanning three invasive populations (Australia, New Guinea and Solomon Islands) and three native‐range Indonesian populations (Java, Sulawesi and Flores). We then analysed these sequences together with published COI sequences to evaluate changes in mtDNA diversity associated with the recent spread of A. cerana across the Austral‐Pacific region. Mitochondrial COI diversity was consistent with invasive A. cerana populations having endured severe founder event bottlenecks during colonisation of New Guinea from Java, and then again during colonisation of Australia and the Solomon Islands from New Guinea. Mitochondrial diversity of native‐range Indonesian populations was high (26 COI haplotypes detected), particularly on Java (20 haplotypes), while all samples from invasive populations carried the same COI haplotype. Indeed, the single COI haplotype of invasive A. cerana populations is consistent with invasive populations being founded by just one, or very few, queens, as previously suggested from nuclear markers. Further investigation is needed to understand the fitness effects, if any, of mitochondrial diversity loss in invasive A. cerana populations of the Austral‐Pacific. [ABSTRACT FROM AUTHOR]

Abstract Euterpe edulis (Arecaceae) Mart has high ecological and economic importance providing food resources for more than 58 species of birds and 20 species of mammals, including humans. E. edulis is the second most exploited nontimber product from Brazilian Atlantic Forest. Due to overexploitation and destruction of habitats, E. edulis is threatened by extinction. Euterpe edulis populations have large morphological variations, with individuals having green, red, or yellow leaf sheath. However, no study has related phenotypic distinctions between populations and their levels of genetic structure. Thus, this study aimed to evaluate the diversity and genetic structure of different E. edulis morphotypes. We sampled 250 adult individuals in eight populations with the different morphotypes. Using 14 microsatellite markers, we access genetic diversity through population genetic parameters calculated in the GenAlex program and the diveRsity package in R. We used the Wilcoxon test to verify population bottlenecks and the genetic distance of Nei and Bayesian analysis for genetic clusters. The eight populations showed low allele richness, low observed heterozygosity, and high inbreeding values (f). In addition, six of the eight populations experienced genetic bottlenecks, which would partly explain the low genetic diversity in populations. Cluster analysis identified two clusters (K = 2), with green morphotype genetically distinguishing from yellow and red morphotypes. Thus, we show, for the first time, a strong genetic structure among E. edulis morphotypes even for geographically close populations.

Abstract Species colonizations (both natural and anthropogenic) can be associated with genetic founder effects, where founding populations demonstrate significant genetic bottlenecks compared to native populations. Yet, many successfully established free‐living species exhibit little reduction in genetic diversity—possibly due to multiple founding events and/or high propagule pressure during introductions. Less clear, however, is whether parasites may show differential signatures to their free‐living hosts. Parasites with indirect life cycles may particularly be more prone to founder effects (i.e., more genetically depauperate) because of inherently smaller founding populations and complex life cycles. We investigated this question in native (east coast) and introduced (west coast) North American populations of a host snail Tritia obsoleta (formerly Ilyanassa obsoleta, the eastern mudsnail) and four trematode parasite species that obligately infect it. We examined genetic diversity, gene flow, and population structure using two molecular markers (mitochondrial and nuclear) for the host and the parasites. In the host snail, we found little to no evidence of genetic founder effects, while the trematode parasites showed significantly lower genetic diversity in the introduced versus native ranges. Moreover, the parasite's final host influenced infection prevalence and genetic diversity: Trematode species that utilized fish as final hosts demonstrated lower parasite diversity and heightened founder effects in the introduced range than those trematodes using birds as final hosts. In addition, inter‐regional gene flow was strongest for comparisons that included the putative historical source region (mid‐Atlantic populations of the US east coast). Overall, our results broaden understanding of the role that colonization events (including recent anthropogenic introductions) have on genetic diversity in non‐native organisms by also evaluating less studied groups like parasites.

The island of Nias/Indonesia shows an extremely reduced genetic diversity indicating a strong founder effect. As a consequence, the prevalence of some disease genes should significantly differ among populations depending on the gene pool passed on to the founder population and their successive expansion as it has already been documented for several monogenic diseases. Results of the current study based on routine laboratory blood examination give rise to the notion that this might also hold true for polygenic disorders. We observed very high prevalence of hyperglycemia (non-fasting glucose above 200 mg/dL in 14 % Nias population compared to 1.5 % in the population of the neighboring island of Sumatra) accompanied by hypertriglyceridemia, high non-HDL-cholesterol, and low HDL-cholesterol levels. These findings suggest that the Nias population may be disproportionally affected by prediabetes and type 2 diabetes mellitus. By contrast, laboratory parameters potentially indicative of other polygenic disorders such as total plasma cholesterol, electrolytes, creatinine, urea, and uric acid were comparable between the inhabitants of Nias and Sumatra islands. To our knowledge this is the first study suggesting that the extremely strong genetic bottleneck seen in the Nias population translates into the widespread metabolic disease with potentially deleterious influence on public health., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 The Authors.)

Aim: Many pinniped species have experienced drastic demographic changes due to their interaction with humans. Most studies, however, have failed to detect recent bottlenecks in otariids from genetic data. The South American Sea Lion Otaria flavescens have a long history of population changes associated with interglacial expansion and hunting to almost extinction. This study aimed at investigating these different demographic fluctuations integrating population genetics and phylogeographic approaches. Location: Pacific coast of South America. Methods: Eighty‐five samples from the Chilean coast were collected. Eight microsatellite loci were genotyped, and D‐Loop mitochondrial DNA (mtDNA) sequenced. Genetic diversity was assessed, and tests of recent genetic bottlenecks were performed. Past demographic changes were inferred based on neutrality tests, adjustment of a sudden expansion model and Bayesian skyline plots. The magnitude and timing of the different population size changes were further investigated through approximate Bayesian computation (ABC) of coalescent inferences. Results: The mtDNA shows relatively high diversity (h = 0.98 and π = 0.01) compared to most otariids, corroborates the divergence between Pacific and Atlantic populations, around 80,000 years ago (ya), and revealed a secondary contact zone in the Magellan strait. Microsatellite data support a second genetic discontinuity at 40°S, associated with post‐glacial colonization of Patagonia. ABC analyses confirmed that glaciation affected the effective population size (Ne) all along the Pacific Coast, between ~50,000 and 15,000 ya. A strong reduction of Ne was also inferred for the hunting period (73–66 ya from sampling). Main conclusions: O. flavescens shows clear signatures of susceptibility to climatic and anthropogenic disturbances and a spatial genetic structure that should be taken into account in the context of management and conservation policies. Yet, despite a recent history of demographic bottlenecks, the genetic diversity remains high, likely a consequence of the demographic dynamics in otariids, characterized by large and connected metapopulations. [ABSTRACT FROM AUTHOR]

Emmer wheat (Triticum turgidum ssp. dicoccum) is an important gene source for wheat improvement but less studied in crosses with its descendant species durum (Triticum turgidum ssp. durum), especially in respect to the type of genetic components, intergenic interactions and the genetic mechanisms governing responses to drought. In this study, generation means analysis was performed using F1, F2, BC1P1 and BC1P2 from two different crosses of emmer × durum. Seeds were planted in a RCBD design with three replications under two water regimes. Results showed that there was a highly considerable difference between generations for all studied traits. The presence of significant mean parameter for all the traits, indicated the quantitative inheritance of the traits. Estimating the number of effective genes, polygenic control of the traits were confirmed. In moisture stress condition, epistatic effect for grain yield and yield-related traits illustrated the importance of epistasis in plant adaptation and performance stability. The additive × additive effect, which is fixable, was remarkable in both crosses. Under both water regimes, narrow-sense heritability was relatively high and estimates of gain from selection were positive for most of the traits. Among generations studied, the backcrosses were superior for drought tolerant indices. Based on the results, emmer wheat seems to have genetic potential for durum improvement. Pasta is mainly produced from durum wheat (Triticum turgidum ssp. durum , which is different from bread wheat (Triticum aestivum L.). To make durum wheat grow and yield in water limited regions of the world, drought tolerant genes may be transferred from a relative species emmer wheat (Triticum turgidum ssp. dicoccum). This research was conducted to make this achievable by understanding how well the gens between the two species combine and express themselves. [ABSTRACT FROM AUTHOR]

Most studies of HIV-1 transmission have focused on subtypes B and C. In this study, we determined the genomic sequences of the transmitted founder (TF) viruses from acutely infected individuals enrolled between 2005 and 2011 into IAVI protocol C in Rwanda and have compared these isolates to viruses from more recent (2016–2019) acute/early infections in three at risk populations – MSM, high risk women (HRW), and discordant couples (DC). For the Protocol C samples, we utilized near full-length single genome (NFLG) amplification to generate 288 HIV-1 amplicons from 26 acutely infected seroconverters (SC), while for the 21 recent seroconverter samples (13 from HRW, two from DC, and six from MSM), we PCR amplified overlapping half-genomes. Using PacBio SMRT technology combined with the MDPseq workflow, we performed multiplex sequencing to obtain high accuracy sequences for each amplicon. Phylogenetic analyses indicated that the majority of recent transmitted viruses from DC and HRW clustered within those of the earlier Protocol C cohort. However, five of six sequences from the MSM cohort branched together and were greater than 97% identical. Recombination analyses revealed a high frequency (6/26; 23%) of unique inter-subtype recombination in Protocol C with 19% AC and 4% CD recombinant viruses, which contrasted with only 6.5% of recombinants defined by sequencing of the pol gene previously. The frequency of recombinants was significantly higher (12/21; 57%) in the more recent isolates, although, the five related viruses from the MSM cohort had identical recombination break points. While major drug resistance mutations were absent from Protocol C viruses, 4/21 of recent isolates exhibited transmitted nevirapine resistance. These results demonstrate the ongoing evolution and increased prevalence of recombinant and drug resistant transmitted viruses in Rwanda and highlight the importance of defining NFLG sequences to fully understand the nature of TF viruses and in particular the prevalence of unique recombinant forms (URFs) in transmission cohorts. [ABSTRACT FROM AUTHOR]

Island populations are at higher risk of extinction than mainland populations. Therefore, understanding the factors that facilitate connectivity is particularly pressing for the conservation of island taxa. Sceloporus occidentalis becki, the Island Fence Lizard, is an endemic taxon restricted to the Northern Channel Islands, part of a nearshore archipelago in Southern California, USA. Since the Last Glacial Maximum, fence lizard habitat on the Northern Channel Islands has decreased with rising sea levels and increasing temperatures that have reduced the availability of woody vegetation. More recently, the introduction (and subsequent removal) of invasive ungulates over the last 170 years and recovery of vegetation has resulted in further dramatic habitat modification. Given the potential for genetic bottlenecks, the history of habitat alteration, and topographic and landscape complexity, we used landscape and population genetic approaches to characterize patterns of genetic diversity and structure of Island Fence Lizards on Santa Cruz Island, the largest of the Northern Channel Islands. Our analyses revealed shallow population structure across the island, low effective population size (Ne = ~ 200), and evidence for a recent genetic bottleneck. Landscape genetic analyses showed that connectivity is facilitated by tree canopy cover and shrubland, as well as by intermediate temperatures, emphasizing the importance of woody vegetation and habitats with variable thermal regimes as the climate warms. Combined, these population and landscape genetic analyses suggest that the Island Fence Lizard is of greater conservation concern than currently appreciated, and increased conservation management focus is warranted for this island endemic. [ABSTRACT FROM AUTHOR]

In Myanmar, civil unrest and establishment of internally displaced persons (IDP) settlement along the Myanmar-China border have impacted malaria transmission. The growing IDP populations raise deep concerns about health impact on local communities. Microsatellite markers were used to examine the source and spreading patterns of Plasmodium falciparum between IDP settlement and surrounding villages in Myanmar along the China border. Genotypic structure of P. falciparum was compared over the past three years from the same area and the demographic history was inferred to determine the source of recent infections. In addition, we examined if border migration is a factor of P. falciparum infections in China by determining gene flow patterns across borders. Compared to local community, the IDP samples showed a reduced and consistently lower genetic diversity over the past three years. A strong signature of genetic bottleneck was detected in the IDP samples. P. falciparum infections from the border regions in China were genetically similar to Myanmar and parasite gene flow was not constrained by geographical distance. Reduced genetic diversity of P. falciparum suggested intense malaria control within the IDP settlement. Human movement was a key factor to the spread of malaria both locally in Myanmar and across the international border.

BACKGROUND: Previous studies documented the problem of inbreeding among Italian Greyhounds (IG) from the USA and its possible role in a multiple autoimmune disease syndrome. The present study is an extension of these earlier experiments and had two objectives: 1) to identify pockets of additional genetic diversity that might still exist among IG from the USA and Continental Europe, and 2) to determine how loss of genetic diversity within the genome and in the dog leukocyte antigen (DLA) complex relates to the problem of autoimmune disease in IG from the USA. Genetic testing was conducted using 33 short tandem repeat (STR) loci across 25 chromosomes and 7 STR loci that associated with specific dog leukocyte antigen (DLA) class I and II haplotypes. Standard genetic assessment tests based on allele frequencies and internal relatedness (IR) were used as measures of breed-wide and individual heterozygosity. RESULTS: The results of these tests demonstrated that IG from the USA and Continental Europe belonged to a single breed but were genetically distinguishable by genomic allele frequencies, DLA class I and II haplotypes, and principal coordinate analysis (PCoA). In the second part of the study, 85 IG from the USA that had suffered various autoimmune disorders (case) and 104 healthy dogs (control) of comparable age were studied for genetic associations with disease. Case dogs were found to be significantly more homozygous in the DLA regions than control dogs. Principal coordinate analysis did not differentiate case from control populations. No specific STR-associated DLA-class I or II haplotype was associated with increased autoimmune disease risks. Reasons for the loss of genetic diversity and increased homozygosity among IG from the USA were studied using registration data and deep pedigrees. The breed in the USA started from a small number of founders from Europe and has remained relatively isolated and small in numbers, limiting breeding choices especially in the period before modern transportation and artificial insemination. An additional cause of lost diversity and increased homozygosity has been the influence of famous sires and their show-winning progeny. The most influential of these sires was Ch. Dasas King of the Mountain (King) born in 1978. Virtually all contemporary IG from the USA have King at least once in 10 generation pedigrees and 18 % of the genome of contemporary IG from the USA is shared with King. CONCLUSIONS: It was concluded that artificial genetic bottlenecks have concentrated numerous genetic polymorphisms responsible for autoimmune disease and that these risk factors did not originate in a specific individual or bloodline of the breed. Rather, they were of ancestral origin in both purebred and random bred dogs and inherited by descent. Italian Greyhound breeders in the USA have several options to improve breed health: 1) breed against homozygosity within the genome and in the DLA region, 2) avoid breeding dogs that have suffered an autoimmune disorder, 3) increase diversity by incorporating the genetic differences that exist in IG from Continental Europe, or 4) outcross to other small sighthound breeds. The latter two approaches must be undertaken with care to avoid introduction of new deleterious traits and to maximize retention and dissemination of new genetic diversity.

BackgroundSebaceous adenitis (SA) and Addison's disease (AD) increased rapidly in incidence among Standard Poodles after the mid-twentieth century. Previous attempts to identify specific genetic causes using genome wide association studies and interrogation of the dog leukocyte antigen (DLA) region have been non-productive. However, such studies led us to hypothesize that positive selection for desired phenotypic traits that arose in the mid-twentieth century led to intense inbreeding and the inadvertent amplification of AD and SA associated traits.ResultsThis hypothesis was tested with genetic studies of 761 Standard, Miniature, and Miniature/Standard Poodle crosses from the USA, Canada and Europe, coupled with extensive pedigree analysis of thousands more dogs. Genome-wide diversity across the world-wide population was measured using a panel of 33 short tandem repeat (STR) loci. Allele frequency data were also used to determine the internal relatedness of individual dogs within the population as a whole. Assays based on linkage between STR genomic loci and DLA genes were used to identify class I and II haplotypes and disease associations. Genetic diversity statistics based on genomic STR markers indicated that Standard Poodles from North America and Europe were closely related and reasonably diverse across the breed. However, genetic diversity statistics, internal relatedness, principal coordinate analysis, and DLA haplotype frequencies showed a marked imbalance with 30 % of the diversity in 70 % of the dogs. Standard Poodles with SA and AD were strongly linked to this inbred population, with dogs suffering with SA being the most inbred. No single strong association was found between STR defined DLA class I or II haplotypes and SA or AD in the breed as a whole, although certain haplotypes present in a minority of the population appeared to confer moderate degrees of risk or protection against either or both diseases. Dogs possessing minor DLA class I haplotypes were half as likely to develop SA or AD as dogs with common haplotypes. Miniature/Standard Poodle crosses being used for outcrossing were more genetically diverse than Standard Poodles and genetically distinguishable across the genome and in the DLA class I and II region.ConclusionsAncestral genetic polymorphisms responsible for SA and AD entered Standard Poodles through separate lineages, AD earlier and SA later, and were increasingly fixed by a period of close linebreeding that was related to popular bloodlines from the mid-twentieth century. This event has become known as the midcentury bottleneck or MCB. Sustained positive selection resulted in a marked imbalance in genetic diversity across the genome and in the DLA class I and II region. Both SA and AD were concentrated among the most inbred dogs, with genetic outliers being relatively disease free. No specific genetic markers other than those reflecting the degree of inbreeding were consistently associated with either disease. Standard Poodles as a whole remain genetically diverse, but steps should be taken to rebalance diversity using genetic outliers and if necessary, outcrosses to phenotypically similar but genetically distinct breeds.

Most studies of HIV-1 transmission have focused on subtypes B and C. In this study, we determined the genomic sequences of the transmitted founder (TF) viruses from acutely infected individuals enrolled between 2005 and 2011 into IAVI protocol C in Rwanda and have compared these isolates to viruses from more recent (2016–2019) acute/early infections in three at risk populations – MSM, high risk women (HRW), and discordant couples (DC). For the Protocol C samples, we utilized near full-length single genome (NFLG) amplification to generate 288 HIV-1 amplicons from 26 acutely infected seroconverters (SC), while for the 21 recent seroconverter samples (13 from HRW, two from DC, and six from MSM), we PCR amplified overlapping half-genomes. Using PacBio SMRT technology combined with the MDPseq workflow, we performed multiplex sequencing to obtain high accuracy sequences for each amplicon. Phylogenetic analyses indicated that the majority of recent transmitted viruses from DC and HRW clustered within those of the earlier Protocol C cohort. However, five of six sequences from the MSM cohort branched together and were greater than 97% identical. Recombination analyses revealed a high frequency (6/26; 23%) of unique inter-subtype recombination in Protocol C with 19% AC and 4% CD recombinant viruses, which contrasted with only 6.5% of recombinants defined by sequencing of the pol gene previously. The frequency of recombinants was significantly higher (12/21; 57%) in the more recent isolates, although, the five related viruses from the MSM cohort had identical recombination break points. While major drug resistance mutations were absent from Protocol C viruses, 4/21 of recent isolates exhibited transmitted nevirapine resistance. These results demonstrate the ongoing evolution and increased prevalence of recombinant and drug resistant transmitted viruses in Rwanda and highlight the importance of defining NFLG sequences to fully understand the nature of TF viruses and in particular the prevalence of unique recombinant forms (URFs) in transmission cohorts.

The American blue crab Callinectes sapidus is a particularly successful invader in estuarine ecosystems worldwide. Despite increasing awareness of its potential harm, the invasion history and underlying genetic diversity of this species within the Mediterranean Sea remain unknown. This study constitutes the first large-scale approach to study phylogeographic patterns of C. sapidus in Europe, facilitated by the first comparison of all currently available COI sequence data. For this investigation, 71 individuals of C. sapidus were newly analyzed and the entire COI gene was sequenced and used for a comparative phylogeographic analyses. For the first time, two separately used adjacent regions of this gene were combined in a single dataset. This allowed emphasizing the prevalence of three geographically defined lineages within the native range: (1) eastern North America, including the Gulf of Mexico, (2) the Caribbean, and (3) Brazil. New data from the Mediterranean reveal that non-native populations of C. sapidus are characterized by a conspicuously low genetic diversity (except for Turkey, where stocking took place), and that there is surprisingly low connectivity among established populations. The occurrence of strong genetic bottlenecks suggests few founder individuals. This confirms that, even under a scenario of restricted large-scale gene flow, a very limited number of invasive individuals is sufficient for a massive impact.

The coffee species Coffea arabica is facing numerous challenges regarding climate change, pests and disease pressure. Improved varieties will be part of the solution. Making optimal use of the scarce genetic diversity of the species is hence essential. In this paper, we present the first study of C. arabica genetic diversity covering its complete native habitat in Ethiopia together with its main domestication centers: Yemen and Hararghe region in Ethiopia. All in all, 555 samples were analyzed with a set of Single Sequence Repeat markers. Through admixture genetic analysis, six clusters were identified. A total of two “Core Ethiopian” clusters did not participate in the domestication of the species. There were four clusters that were part of the “Domestication Pathway” of C. arabica. The first one was named “Ethiopian Legacy” as it represents the genetic link between “Core Ethiopia” and the “Domestication Pathway” in Yemen and Hararghe. The geographic origin of this cluster in Ethiopia was the south of Ethiopia, namely Gedio, Guji and Sidama, which hence appears as the source of coffee seeds that led to the domestication of C. arabica. In Yemen, in addition to the “Ethiopian Legacy” cluster, we confirmed the “Typica/Bourbon” and “New-Yemen” clusters. In Hararghe, the “Harrar” cluster, never described before, likely originates from a re-introduction of domesticated coffee from Yemen into this region of Ethiopia. Cultivated varieties around the world today originate from the “Ethiopian Legacy” and “Typica/Bourbon” clusters and but none are related to the “new-Yemen” and “Harrar” clusters. Implications for breeding strategies are discussed.

Emmer wheat (Triticum turgidum ssp. dicoccum) is one of the most promising gene sources for drought tolerance improvement of durum wheat (Triticum turgidum ssp. durum). Achieving desired results requires a conscious choice of crossing parents based on general and specific combining ability (GCA and SCA) and also understanding the genes action involved in controlling the desired traits. In this study a 12 × 12 full diallel cross was performed using four emmer and eight durum wheats. The 132 hybrid progenies along with their parental lines were field evaluated under water-stressed and non-stressed conditions. Based on the Griffing diallel analysis both GCA and SCA effects were highly significant for all measured traits under both water treatments indicating possibility of improvement for drought tolerance. In this respect, the amount of additive effect was higher than the non-additive suggesting the chance for genetic advancement through selection. Based on Hayman's graphical analyses under the two water conditions it was revealed that several grain yield component traits were under the control of partial dominance. In contrary, grain yield and most morphological traits showed either dominance or over-dominance gene action. Grain yield had a significant positive correlation with the number of kernels per spike, kernel diameter, grain weight per spike and harvest index. These traits also had greater share of additive effects, relatively high narrow-sense heritability and high Baker ratio suggesting effective indirect selection for grain yield. Most durum × emmer hybrids had grain yield and drought tolerance indices better than the parents indicating that Iranian emmer wheats have a great genetic potential for drought tolerance improvement of durum wheat. [ABSTRACT FROM AUTHOR]