Genetic Structure Research Articles

Genetic and phenotypic evidence suggest the existence of indigenous olive population of wild var. sylvestris in the Carmel coast, southern Levant

BackgroundPopulations of Olea europaea subsp. europaea var. sylvestris, the ancestor of cultivated olives, are scattered across the Mediterranean Basin. However, after millennia of possible hybridization with cultivated varieties, the genetic identity of many of these populations remain questionable. In the southern Levant, the plausible primary domestication center of olives, many of the naturally growing olive (NGOs) are considered feral, having developed from nearby olive groves. Here, we investigated the genetic identity of NGOs population in the Carmel region, hypothesizing that their specific location, which limit anemophily, provided an opportunity for the persistence of genuine var. sylvestris.ResultsWe mapped more than 1,000 NGOs on the Kurkar ridge along the Carmel coast, within and outside the residential area of Atlit and used simple sequence repeats of 14 loci to assess the spatial genetic structure of 129 NGOs. Genetic diversity parameters and genetic distances between NGO and cultivated olives, as well as phenotypic and morphometric analyses of their oil content and pits, respectively, indicated the presence of a genuine var. sylvestris population. However, NGOs within the residential area of Atlit and old settlements showed an intermediate admix genetic structure, indicating on hybridization with local varieties, a consequence of their proximity to cultivated trees.ConclusionsIntegrating the results of genetic and phenotypic analyses we provide crucial evidence of the presence of a genuine var. sylvestris population in the southern Levant, in close geographical proximity to archaeological sites with the earliest evidence of olive exploitation in the ancient world. We supplement the results with recommendations for a conservation program that combines municipal requirements and the urgent need to preserve the largest population of var. sylvestris in the southern Levant.

Bird Words in Arabic, Lineage Structures as an Example

This research is entitled (Bird Words in Arabic, Genealogical Structures as a Model) and it is an attempt to examine the relationship between bird words and the meaning of the structures of those words. I counted the words that indicate the names of those birds that have genetic structures, through searching in dictionaries and language books to study the word semantically and traced The meaning of the construction of the word and linked its morphological meaning to the lexical meaning, relying thus on the eye dictionary and language standards, the custom and the etymological dictionary underlying the words of the Holy Qur’an, and the words were decided according to the morphological structures and lineage structures.

Integrating genetic analysis of germplasm wealth for enhanced selection and improvement in olive (Olea europaea L.): insights from leaves.

High-throughput next-generation sequencing of 161 olive germplas. 33 samples were selected as core olive germplasm and Fingerprints were constructed. After GWAS analysis of olive leaf shape, 14 candidate genes were localized. Olive (Olea europaea L.) has been introduced to China since the 1960s. After a prolonged period of variation and domestication, there is a lack of comprehensive research on its genetics. The olive oil directly extracted from Olea europaea L. is recognized as 'liquid gold', nevertheless, people constantly overlook the valuable wealth of olive leaves. High-throughput next-generation sequencing was performed on 161 olive germplasm to analyze the kinship, genetic structure and diversity of olives, and the core germplasm of olives were selected and fingerprints were constructed. Meanwhile, Genome-wide association analysis (GWAS) was performed to locate the gene for regulating olive leaf shape. Herein, the results parsed that most of the Chinese olive germplasm was more closely related to the Italian germplasm. A wealth of hybridized germplasm possessed high genetic diversity and had the potential to be used as superior parental material for olive germplasm. A total of 33 samples were selected and characterized as core germplasm of olive and Fingerprints were also constructed. A total of 14 candidate genes were localized after GWAS analysis of four olive leaf shape phenotypes, including leaf shape, leaf curvature shape, leaf tip and leaf base shape. Collectively, this study revealed the genetic basis of olives in China and also succeeded in constructing the core germplasm that stands for the genetic diversity of olives, which can contributeto the scientific and effective collection and preservation of olive germplasm resources, and provide a scientific basis for the in-depth excavation and utilization of genes regulating olive leaf shape.

Phylogeography and population genomics of the critically endangered aquatic plant Caldesia grandis in China

Caldesia grandis, a critically endangered aquatic species, is predominantly found in the mid-low mountainous swamps of subtropical China. This study assessed the genetic diversity and population structure of the species using RAD-seq data, explored its phylogeography across the extant nine populations based on five plastid DNA (ptDNA) regions, and conducted niche modeling analysis. We found low genetic diversity (HE = 0.180, Ho = 0.222, and π = 0.197) and genetic differentiation among populations (Fst = 0.089), which was likely due to genetic drift in small populations and frequent inter-population contact during the Quaternary period. Although RAD-seq analysis did not reveal a clear population structure, two distinct clades, comprising western and eastern populations, were identified using five ptDNA haplotypes. Molecular dating and niche modeling suggested that the uplift of the Luoxiao Mts may have contributed to the divergence of the eastern and western clades (ca. 1.51 Ma)during the Pleistocene, which also supports the hypothesis that the Nanling Mts acted as a refugium for C. grandis. Additionally, the repeated glacial periods of the Quaternary, accompanied by contraction and expansion of suitable habitats, likely facilitated gene exchange among populations, influencing the current distribution pattern in subtropical China. Our results suggested that each ptDNA haplotype should be treated as an independent unit for conservation purposes, and ex-situ efforts should be prioritized to conserve C. grandis in China.

Development and characterization of 15 polymorphic microsatellite markers for Hepatica insularis (Ranunculaceae) endemic to the Korean Peninsula

Hepatica insularis Nakai, a perennial herb endemic to warm-temperate regions on the Korean Peninsula, has been a subject of taxonomic debate due to its morphological similarities with Hepatica asiatica Nakai. To address the taxonomic ambiguity and provide evolutionary insights into H. insularis, we developed 15 polymorphic microsatellite markers. Of these, eight markers were successfully cross-amplified in H. asiatica, demonstrating their broader applicability. The markers exhibited high levels of polymorphism, with the number of alleles per locus ranging from two to eleven. The expected heterozygosity (H<sub>E</sub>) and observed heterozygosity (H<sub>O</sub>) values ranged from 0.180 to 0.802 and from 0.000 to 0.933, respectively. The developed markers will serve as a valuable tool for future phylogeographic studies aiming to understand the genetic structure and diversity of H. insularis and related taxa.

Combined genomic evaluation of Merino and Dohne Merino Australian sheep populations.

The Dohne Merino sheep was introduced to Australia from South Africa in the 1990s. It was primarily used in crosses with the Merino breed sheep to improve on attributes such as reproduction and carcass composition. Since then, this breed has continued to expand in Australia but the number of genotyped and phenotyped purebred individuals remains low, calling into question the accuracy of genomic selection. The Australian Merino, on the other hand, has a substantial reference population in a separate genomic evaluation (MERINOSELECT). Combining these resources could fast track the impact of genomic selection on the smaller breed, but the efficacy of this needs to be investigated. This study was based on a dataset of 53,663 genotypes and more than 2 million phenotypes. Its main objectives were (1) to characterize the genetic structure of Merino and Dohne Merino breeds, (2) to investigate the utility of combining their evaluations in terms of quality of predictions, and (3) to compare several methods of genetic grouping. We used the 'LR-method' (Linear Regression) for these assessments. We found very low Fst values (below 0.048) between the different Merino lines and Dohne breed considered in our study, indicating very low genetic differentiation. Principal component analysis revealed three distinct groups, identified as purebred Merino, purebred Dohne, and crossbred animals. Considering the whole population in the reference led to the best quality of predictions and the largest increase in accuracy (from 'LR-method') from pedigree to genomic-based evaluations: 0.18, 0.14 and 0.16 for yearling fibre diameter (YFD), yearling greasy fleece weight (YGFW) and yearling liveweight (YWT), respectively. Combined genomic evaluations showed higher accuracies than the evaluation based on the Dohne reference only (accuracies increased by 0.16, 0.06 and 0.07 for YFD, YGFW, and YWT, respectively). For the combined genomic evaluations, metafounder models were more accurate than Unknown Parent Groups models (accuracies increased by 0.04, 0.04 and 0.06 for YFD, YGFW and YWT, respectively). We found promising results for the future transition of the Dohne breed from pedigree to genomic selection. A combined genomic evaluation, with the MERINOSELECT evaluation in addition to using metafounders, is expected to enhance the quality of genomic predictions for the Dohne Merino breed.

Investigating the shared genetic links between hypothyroidism and psychiatric disorders: a large-scale genomewide cross-trait analysis

BackgroundAssociations between thyroid diseases and psychiatric disorders have been mainly described before. However, the genetic mechanism behind hypothyroidism and psychiatric disorders remains unexplained. MethodsWe examined the genetic architecture of hypothyroidism and 8 psychiatric disorders. Firstly, the global and local genetic relationship between the paired traits was explored. Secondly, cross-trait analysis was performed to investigate the genomic loci and genes between psychiatric disorders and hypothyroidism. Thirdly, the significant expression of these genes and the causal relationships were investigated. Lastly, enrichment analysis was conducted on these genes to explore their biological mechanisms. ResultsWe observed significant positive genetic correlations between psychiatric disorders and hypothyroidism. The cross-trait meta-analysis identified 62 shared genetic loci between hypothyroidism and psychiatric disorders. The colocalization analysis additionally revealed 15 potential pleiotropic loci with a posterior probabilities.H4 (PP·H4) value >0.7. We also found 2308 genes shared between both traits, which were highly enriched in biological pathways such as immune cell differentiation and autoimmune diseases, as well as in tissue structures like the frontal cortex and cerebral cortex. Especially, many pleiotropic genes were significantly expressed for multiple pairwise traits, such as BCL11B, RERE, and SUOX. Lastly, the Latent causal variable model (LCV) analysis did not find any causal components in the genetic structure between them. LimitationsThe limitations of this study include that the conclusions were drawn from a European population. ConclusionsThese findings not only deepens our understanding of their biological mechanisms but also has significant implications for the intervention and treatment of these diseases.

Genetic Attributes and Conservation of an Endangered Giant Water Bug Species, Diplonychus esakii Miyamoto and Lee, 1966 (Hemiptera: Belostomatidae).

Diplonychus esakii, a water bug from the family Belostomatidae, plays an important role in freshwater ecosystems as one of the top predators. In this study, we investigated the genetic diversity and population structure of D. esakii by analyzing 318 specimens across 27 sites in South Korea. We found that the populations of D. esakii possess 11 haplotypes with a haplotype diversity of 0.623. This represents a relatively low level of genetic diversity compared to other known belostomatids and endangered species. AMOVA and FST analyses revealed significant genetic differentiation among populations, with most populations harboring only 1-2 haplotypes, suggesting restricted gene flow between populations and a low level of genetic diversity. This low genetic diversity and limited gene flow suggest a potential vulnerability to environmental changes and an increased risk of extinction, indicating that D. esakii should be designated as a protected species in South Korea as part of future conservation efforts. Based on the results of this study, Upo Wetland, which maintains relatively high levels of genetic diversity and Jeju Island, which, despite its lower genetic diversity compared to the mainland, does not share haplotypes with other regions, should be considered key conservation units for this species. This study highlights the importance of incorporating genetic information into conservation status assessments under the Red List Categories and Criteria and also emphasizes the need to evaluate this species on the Korean Red List. The data provided here will serve as essential baseline information and valuable resources for the development of effective conservation strategies.

Genetic diversity, population structure and marker-trait association analysis for yield-related traits in chickpea (Cicer arietinum L.)

Genetic diversity, population structure and marker-trait association analysis for yield-related traits in chickpea (Cicer arietinum L.)

SNP Markers: Analysis of Genetic Diversity and Identification of Genomic Regions in Pantaneiro Sheep and Texel Sheep Under Natural Selection.

Sheep farming is growing substantially in Brazil, driven by the increasing demand for sheep meat. This rising demand has heightened the focus on sheep, making them the subject of numerous studies, including those centered on genetic analysis. A notable research area involves Pantaneiro sheep, which are indigenous to the Pantanal region of Mato Grosso do Sul and other locations. These sheep are of particular interest due to their adaptation to the unique environmental conditions of the Pantanal, a floodplain characterized by its distinctive climatic and ecological features. This study primarily aimed to conduct a comprehensive genomic analysis of Pantanal sheep subjected to natural selection within the Pantanal region and compare different sample herds using methodological approaches. Genomic analysis was performed to examine genetic diversity and structure via GGP50K single nucleotide polymorphism (SNP) analysis. A sample of 192 adult sheep over 4 years old was categorized into seven populations based on location: Six populations comprised Pantaneiro sheep with one Texel sheep population. Outlier SNPs were assessed to pinpoint regions under natural selection, with comparisons between the Pantaneiro and the commercial Texel breeds. All data analyses were conducted using the R programming language, employing specialized genetic analysis packages. These outlier SNPs were detected using three methodologies, PCAdapt, OutFLANK, and FDIST2/fsthet, with false discovery rate (FDR) corrections applied to ensure result accuracy. Each method was evaluated, and the genes associated with the identified SNPs were cross-referenced with the most recent sheep genome database, focusing specifically on genes with known phenotypic traits. Analysis of a sample comprising 192 adult individuals revealed greater genetic variability within the Pantaneiro breed than the Texel breed, highlighting the adaptation of the Pantaneiro breed to the unique Pantanal environment. Conversely, the Texel breed exhibited significantly higher levels of inbreeding, attributed to its controlled breeding practices. Outlier SNPs were detected with notable variation across different methodologies, underscoring the importance of FDR correction in ensuring the reliability and concentration of identified outliers. These outlier SNPs facilitated the identification of genes associated with key phenotypic traits, including hair growth, tissue regeneration, pigmentation regulation, and muscle capacity. The integrated analysis of methodologies demonstrated significant efficiency in elucidating the genomic landscape of Pantanal sheep, highlighting the genetic richness inherent in sheep from the Pantanal region of Mato Grosso do Sul. The techniques employed effectively identified outlier SNPs associated with phenotypically relevant genes. These findings, which reveal greater genetic variability and adaptability, underscore the potential of these animals for future research and their significance within Brazilian sheep farming. The Texel breed served as a valuable comparative group, illustrating the limited genetic variability in highly controlled breeding environments.

Variation in the Local Grey Mullet Populations (Mugil cephalus) on the Western Pacific Fringe

Background: Understanding population genetic structures is crucial for planning and implementing conservation programmes to preserve species’ adaptive and evolutionary potential and thus ensure their long-term persistence. The grey mullet (Mugil cephalus) is a globally distributed coastal fish. Its populations in waters surrounding Taiwan on the western Pacific fringe are divided into at least two stocks (migratory and residential), but questions remain regarding their genetic divergence and gene flow. Methods and Results: To cast more light on this, allozyme variations at 21 presumptive gene loci of 1217 adult grey mullets from 15 localities in Japan, Taiwan and mainland China, and four gene loci from 1470 juveniles from three localities in Taiwan were used to investigate patterns of genetic variation. The mean expected heterozygosity (He) was 0.128—ranging from 0.031 (Matsu) to 0.442 (Kaoping)—and the mean observed heterozygosity (Ho) was 0.086—ranging from 0.017 (Kaohsiung) to 0.215 (Kaoping). Both AMOVA and the high overall mean FST of 0.252 indicated enormous genetic differentiation among populations and the positive mean value of FIS was 0.328, indicating a deficiency of heterozygotes. PCoA indicated that the samples of M. cephalus could be split into three groups and STRUCTURE analysis showed that all individuals were grouped into three genetic clusters. The results of mutation-drift equilibrium tests did not suggest that the populations experienced any recent genetic bottleneck. The results from all localities in the present investigation showed significant change in the GPI-A genotype frequencies with latitudes—e.g., increases in GPI-A*135/135 homozygote frequencies and GPI-A*100/100 frequencies were highly correlated with latitudinal cline. All migratory populations with the GPI-A genotype were almost exclusively the GPI-A*100/100 homozygote. During the life history of M. cephalus, the GPI-A*100/135 heterozygote frequency significantly decreases with age. Conclusions: Based on these data, we suggest that each GPI-A genotype represents trait combinations of higher fitness in some portions of the environment. Furthermore, the genotypic frequencies change in accordance with life stages, suggesting that selection occurs throughout the life span.

Whole-Genome Sequences of 13 Chinese Indigenous Pinewood Nematodes, Bursaphelenchus xylophilus.

The pinewood nematode (Bursaphelenchus xylophilus, PWN) induces pine wilt disease in Pinaceae plants, causing severe destruction to pine forests. Previous studies report that by 2023, 663 cities across 18 provinces in China had been infested by the PWN, necessitating immediate control measures. To identify the genetic variations associated with the PWN's adaptation to new environments, we conducted whole-genome sequencing (WGS) on 13 indigenous PWN samples from two distinct geographic zones within China, specifically Anhui, Liaoning, and Jiangxi provinces. We identified genetic variants and analyzed the genetic structure of these populations, followed by functional gene enrichment analyses. Our findings reveal genetic variants associated with secretion, immune system function, membrane processes, metabolism, catabolism, and cell wall regulation, supporting the hypothesis that the PWN genome has been shaped by local ecosystems.

QTL mapping and candidate gene mining of seed size and seed weight in castor plant (Ricinus communis L.).

Castor (Ricinus communis L., 2n = 2x = 20) is an important industrial crop, due to its oil is very important to the global special chemical industry. Seed size and seed weight are fundamentally important in determining castor yield, while little is known about it. In this study, QTL analysis and candidate gene mining of castor seed size and seed weight were conducted with composite interval mapping (CIM), inclusive composite interval mapping (ICIM) and marker enrichment strategy in 4 populations, i.e., populations F2, BC1, S1-1 and S1-2, derived from 2 accessions with significant phenotypic differences. In the QTL primary mapping, 2 novel QTL clusters were detected in marker intervals RCM520-RCM76 and RCM915-RCM950. In order to verify their accuracy and to narrow their intervals, QTL remapping was carried out in populations F2 and BC1. Among them, 44 and 30 QTLs underlying seed size and seed weight were detected in F2 population using methods CIM and ICIM-ADD respectively, including 4-9 and 3-5 ones conferring each trait were identified with a phenotypic variation explained ranged from 37.92 to 115.81% and 32.86-45.98% respectively. The remapping results in BC1 population were consistent with those in F2 population. Importantly, 3 QTL clusters (i.e. QTL-cluster1, QTL-cluster2 and QTL-cluster3) were found in marker intervals RCM74-RCM76 (37.1kb), RCM930-RCM950 (259.8kb) and RCM918-RCM920 (172.9kb) respectively; in addition, all of them were detected again, the former one was found in the S1-2 population, and the latter two were found simultaneously in the populations S1-1 and S1-2. Finally, 6 candidate genes (i.e. LOC8266555, LOC8281168, LOC8281151, LOC8259066, LOC8258591 and LOC8270077) were screened in the above QTL clusters, they were differentially expressed in multiple seed tissues of both parents, signifying the potential role in regulating seed size and seed weight. The above results not only provide new insights into the genetic structure of seed size and seed weight in castor, but also lay the foundation for the functional identification of these candidate genes.

Acanthocephalan Profilicollis altmani infecting the mole crab Emerita brasiliensis in southeastern Brazil

Acanthocephalan parasites, specifically from the genus Profilicollis, are known to infect decapod crustaceans, including mole crabs like Emerita brasiliensis, which serve as intermediate hosts in their complex life cycles. This study reports the first occurrence of the acanthocephalan parasite Profilicollis altmani infecting the mole crab Emerita brasiliensis on a sandy beach in southeastern Brazil, thereby expanding the known geographic range of this parasite. Additionally, the study provides novel molecular data that enhance our understanding of the parasite’s taxonomy and distribution, including the first evidence of genetic variation within populations of the intermediate host E. brasiliensis. Phylogenetic analysis based on mitochondrial COX1 gene sequences confirmed the identification of the parasite and underlined small genetic differences among P. altmani populations. These findings suggest a weak genetic population structure of the parasite and underscore the need for further studies to understand gene flow among these populations. This work contributes to the knowledge of parasite-host interactions in sandy beach ecosystems. It highlights the importance of monitoring parasitic infections in species like E. brasiliensis, which play a crucial ecological role in these environments.

Population structure and demographic history of two highly-trafficked species of pangolin in the Congo Basin.

African pangolins are hunted for their meat and for use in local traditional medicine, as well as for their scales, which are trafficked internationally, especially to growing Asian markets. Pangolin's population genetic structure can be used to trace the geographic origins of trafficked scales, but substantial sampling gaps across pangolins' ranges hinder these efforts. In this study, we documented population structure and dynamics in the two species of African pangolin, the white-bellied pangolin (Phataginus tricuspis) and the giant pangolin (Smutsia gigantea) in the underexplored Republic of Congo. Using the mitochondrial control region and two nuclear markers (beta-fibrinogen and titin), we identified high genetic diversity in both species. We document a distinct mitochondrial lineage of the white-bellied pangolin, which was most likely shaped by river barriers together with dynamics of forest refugia related to the climatic shifts during the Pleistocene. We detected population growth in the white-bellied pangolin coinciding with a dry period during the Pleistocene, suggesting some ability for this typically forest-dwelling species to persist under diverse environmental conditions. Using landscape genetics, we found all but one of the pangolins we sampled at bush meat markets originated locally. A single individual appeared to have been imported to Congo from Cameroon. These findings significantly contribute to our understanding of pangolin population biology and local trade dynamics. In addition, our data from a previously unstudied part of pangolins' ranges will help us to better understand international wildlife trafficking patterns and to target conservation and protection strategies for these highly vulnerable species.

Simulation modelling demonstrates differential performance of connectivity methods in their ability to predict genetic diversity in complex landscapes

ContextThere have been few evaluations of how well different connectivity modelling methods are able to predict the spatial genetic structure and genetic diversity of populations residing in complex landscapes. Given the wide application of connectivity modelling tools in applied conservation planning, it is crucial to broadly evaluate how these models perform across resistance, movement, and population structure conditions in predicting genetic diversity patterns. Such evaluations are critical to provide rigorous, biologically based guidance for conservation and management applications. ObjectivesOur goal was to investigate how the predictions of three connectivity models were related to spatial patterns of genetic diversity complex landscapes, considering factors such as population structure, resistance, genetic drift, genetic disequilibrium, and organism movement abilities. MethodsWe evaluated the performance of several connectivity methods across seven a priori landscape resistance surfaces to provide a broad assessment of their performance. We used CDPOP, an individual-based, spatially explicit population and genetic simulation model, to simulate genetic diversity across these resistance surfaces. This provided a pool of genetic diversity patterns that were the response factor in our simulation experiment. We then simulated landscape connectivity with several popular connectivity methods, including resistant kernels, Circuitscape, and Pathwalker, and evaluated how well they were able to predict spatial patterns of genetic diversity. ResultsResistant kernel outperformed other connectivity methods in predicting landscape patterns of genetic diversity. The strongest relationships occurred when the population process has created spatial structure but has not yet led to significant genetic diversity loss due to drift. The time lag disequilibrium was relatively short. Long simulation times resulted in severe reduction in prediction ability due to drift. ConclusionsResistant kernel predictions were much more strongly related to spatial patterns of genetic diversity than were predictions produced by Circuitscape and Pathwalker, across a large combination of population structures. Strong relationships exist between functional connectivity and genetic diversity, with clearer and stronger associations seen in spatial patterns of allelic richness compared to heterozygosity or spatial effective population size. Our results confirm the strong relationship between genetic diversity and population connectivity, and suggest that computationally efficient incidence function algorithms, such as resistant kernel methods, are well suited to predicting functional connectivity.

Divergence and serial colonization shape genetic variation and define conservation units in Asian elephants

Asian elephants (Elephas maximus) are the largest extant terrestrial megaherbivores native to Asia, with 60% of their wild population found in India. Despite ecological and cultural importance, their population genetic structure and diversity, demographic history, and ensuing implications for management/conservation remain understudied. We analyzed 34 whole genomes (between 11× and 32×) from most known elephant landscapes in India and identified five management/conservation units corresponding to elephants in Northern (Northwestern/Northeastern), Central, and three in Southern India. Our data reveal signatures of divergence and serial colonization and a potential dilution of genetic diversity from north to south of India. The northern populations diverged from others more than 70,000 years ago, have higher genetic diversity, and have low inbreeding (pi= 0.0016± 0.0001; FROH>1 MB= 0.09± 0.03). Two of three populations in Southern India have low diversity and are inbred, with very low effective population sizes compared with census sizes (pi= 0.0014± 0.00009 and 0.0015± 0.0001; FROH>1 MB= 0.25± 0.09 and 0.17± 0.02). Analyses of genetic load reveal the purging of potentially high-effect insertion/deletion (indel) deleterious alleles in the southern populations and a decreasing number of deleterious alleles from north to south in India. However, despite dilution and purging for the damaging mutation load in Southern India, the load that remains is homozygous. High homozygosity of deleterious alleles, coupled with low neutral genetic diversity, make southernmost populations high priority for conservation attention. Most surprisingly, our study suggests that patterns of genetic diversity and genetic load can correspond to genomic signatures of serial founding events, even in large, highly mobile, endangered mammals.

Comparative assessment of genotyping-by-sequencing and whole-exome sequencing for estimating genetic diversity and geographic structure in small sample sizes: insights from wild jaguar populations.

Biologists currently have an assortment of high-throughput sequencing techniques allowing the study of population dynamics in increasing detail. The utility of genetic estimates depends on their ability to recover meaningful approximations while filtering out noise produced by artifacts. In this study, we empirically compared the congruence of two reduced representation approaches (genotyping-by-sequencing, GBS, and whole-exome sequencing, WES) in estimating genetic diversity and population structure using SNP markers typed in a small number of wild jaguar (Panthera onca) samples from South America. Due to its targeted nature, WES allowed for a more straightforward reconstruction of loci compared to GBS, facilitating the identification of true polymorphisms across individuals. We therefore used WES-derived metrics as a benchmark against which GBS-derived indicators were compared, adjusting parameters for locus assembly and SNP filtering in the latter. We observed significant variation in SNP call rates across samples in GBS datasets, leading to a recurrent miscalling of heterozygous sites. This issue was further amplified by small sample sizes, ultimately impacting the consistency of summary statistics between genotyping methods. Recognizing that the genetic markers obtained from GBS and WES are intrinsically different due to varying evolutionary pressures, particularly selection, we consider that our empirical comparison offers valuable insights and highlights critical considerations for estimating population genetic attributes using reduced representation datasets. Our results emphasize the critical need for careful evaluation of missing data and stringent filtering to achieve reliable estimates of genetic diversity and differentiation in elusive wildlife species.

Pomological and Molecular Characterization of Apple Cultivars in the German Fruit Genebank.

Traditional varieties are a valuable tool in modern apple breeding. However, the use of synonyms and missing source documentation hinder an effective identification and conservation of relevant cultivars. During several projects, the authenticity and diversity of the apple cultivar collection of the German Fruit Genebank (GFG) was evaluated extensively. The trueness-to-type of 7890 apple trees was assessed on a pomological and molecular level. Pomological evaluations were performed by at least two experienced experts to identify the original cultivar names. On the molecular level, a set of 17 SSR markers was used to determine a unique genetic profile for each apple cultivar. The pomological and molecular characterization was expressed in terms of a comprehensive trueness-to-type criterion and the results were previously published as a well-curated dataset. In this study, the published dataset was analyzed to evaluate the quality and diversity of the apple collection of the GFG and highlight new findings based on phylogenetic and parentage analysis. The dataset contains 1404 unique genetic profiles corresponding to unambiguous cultivar names. Of these 1404 cultivars, 74% were assessed as true-to-type. The collection of diploid apple cultivars showed a high degree of expected heterozygosity (Hexp = 0.84). Genetic diversity in terms of year and location of origin was investigated with a STRUCTURE analysis. It was hypothesized that genetic diversity might decline overtime due to restrictive breeding programs. The results showed a shift dynamic between older and newer cultivars in one specific cluster, but no significant decrease in genetic diversity was observed in this study. Lastly, a parentage analysis was performed to check parental relationships based on historical research. Out of 128 parent-child trios, 110 trios resulted in significant relationships and reconfirmed the information from the literature. In some cases, the information from the literature was disproven. This analysis also allowed for readjusting the trueness-to-type criteria for previously undetermined cultivars. Overall, the importance of authenticity evaluations for gene bank cultivars was highlighted. Furthermore, the direct use of the dataset was shown by relevant investigations on the genetic diversity and structure of the apple cultivar collections of the GFG.

Disentangling the Factors Selecting for Unicellular Programmed Cell Death.

AbstractThe widespread occurrence of genetically programmed cell death (PCD) in unicellular species poses an evolutionary puzzle. While kin selection theory predicts that the fitness benefits of cell suicide must be preferentially directed toward genetic relatives, it does not predict the nature of these benefits. Furthermore, cell suicide must be conditionally expressed, leaving open the question of what conditions optimally regulate expression. Here we formalize several verbal hypotheses for the ecological function of unicellular PCD. We show that self-sacrifice by healthy cells cannot evolve. Instead, PCD evolution requires that damaged cells sense impending death and then (1) expedite this death to spare resources for groupmates, (2) prepare cellular contents so that necrotic toxins are not released upon death, or initiate autolysis in order to (3) release beneficial compounds or (4) release anticompetitior toxins. The prerequisite ability to predict death is a severe cell biological constraint as well as an ecological constraint that restricts PCD evolution to species with specific sources of mortality. We show that the specific type of PCD that will evolve, though, differs on the basis of a species' ecology, life history, and genetic structure.