Population Differentiation Research Articles

Genetic diversity and population structure of indigenous guinea fowl (Numida meleagris) in Benin using simple sequence repeat markers.

This study aimed to assess the genetic diversity and population structure of 12 guinea fowl phenotypes from three climatic zones (Guinean, Sudano-Guinean and Sudanian) of Benin. A total of 96 adult guinea fowl, aged at least 6months, were selected for blood sampling. Fragment analysis was carried out using 17 polymorphic microsatellite markers. The informative marker combinations revealed a total of 83alleles across all loci, with an average of 5alleles per locus and a mean polymorphic information content (PIC) of0.793. This study showed an observed heterozygosity of0.492. The inbreeding coefficient values ranged from0.086 in white phenotype to0.226 in cinnamon, showing a deficit of heterozygotes, suggesting a moderate inbreeding level. A relatively low population differentiation was observed, with a mean fixation index(Fst) value of0.033. The short genetic distances between phenotypes, unlike the strong genetic identities, revealed high genetic proximity between the 12 phenotypes of indigenous guinea fowl in Benin. These data indicate the existence of a single indigenous guinea fowl population with high intra-population genetic diversity with respect to climatic zones or phenotypes. This study will help in the selection of parental breeding stock for genetic improvement programs, as well as in the conservation for biodiversity maintenance and sustainable use of the indigenous guinea fowl in the study zones in Benin.

Influences of Microbial Symbionts on Chemoreception of Their Insect Hosts.

Chemical communication is widespread among insects and exploited to adjust their behavior, such as food and habitat seeking and preferences, recruitment, defense, and mate attraction. Recently, many studies have revealed that microbial symbionts could regulate host chemical communication by affecting the synthesis and perception of insect semiochemicals. In this paper, we review recent studies of the influence of microbial symbionts on insect chemoreception. Microbial symbionts may influence insect sensitivity to semiochemicals by regulating the synthesis of odorant-binding proteins or chemosensory proteins and olfactory or gustatory receptors and regulating host neurotransmission, thereby adjusting insect behavior. The manipulation of insect chemosensory behavior by microbial symbionts is conducive to their proliferation and dispersal and provides the impetus for insects to change their feeding habits and aggregation and dispersal behavior, which contributes to population differentiation in insects. Future research is necessary to reveal the material and information exchange between both partners to improve our comprehension of the evolution of chemoreception in insects. Manipulating insect chemoreception physiology by inoculating them with microbes could be utilized as a potential approach to managing insect populations.

Mediterranean Aquaculture and Genetic Pollution: A Review Combined with Data from a Fish Farm Evaluating the Ecological Risks of Finfish Escapes

Mediterranean finfish aquaculture is mainly represented by the production of the gilthead sea bream (Sparus aurata) and sea bass (Dicentrarchus labrax) growing in marine cage farms. Despite the numerous benefits of fish farming, the ecological risk potentially caused by fish escapes to the wild populations is occasionally high. In the current study, an integrated review of fish escapes is presented regarding S. aurata and D. labrax escapes and their potential effect on the genetic composition of wild populations. The collected data from the literature are combined and discussed along with recorded escapes in a fish farm located in the Aegean Sea, Greece. According to these records, fish escapes present a generally stable rate, ranging between 0 and 2% in each escape event, which occur 5–8 times per year. Although for other farmed fish species worldwide, the ecological risk may be higher, this risk is probably lower in Mediterranean finfish populations, which are characterized by generally low levels of genetic differentiation. Nevertheless, the risk of genetic introgression still exists. Particularly in sea bream and sea bass farming, genetic structure and differentiation in wild populations seem to be unaffected for now. Nevertheless, suitable management measurements would be a useful strategy to avoid future negative effects of fish escapes. These strategies should be focused on further efforts towards recapture program development, reduced escapees’ survival, and proper legislation. Furthermore, more data on escapees’ survival percentage, their migration pathways, and the way these pathways relate to mortality, the type of escape event, and the season of release would be also valuable.

Race, Ethnicity, and Pharmacogenomic Variation in the United States and the United Kingdom.

The relevance of race and ethnicity to genetics and medicine has long been a matter of debate. An emerging consensus holds that race and ethnicity are social constructs and thus poor proxies for genetic diversity. The goal of this study was to evaluate the relationship between race, ethnicity, and clinically relevant pharmacogenomic variation in cosmopolitan populations. We studied racially and ethnically diverse cohorts of 65,120 participants from the United States All of Us Research Program (All of Us) and 31,396 participants from the United Kingdom Biobank (UKB). Genome-wide patterns of pharmacogenomic variation-6311 drug response-associated variants for All of Us and 5966 variants for UKB-were analyzed with machine learning classifiers to predict participants' self-identified race and ethnicity. Pharmacogenomic variation predicts race/ethnicity with averages of 92.1% accuracy for All of Us and 94.3% accuracy for UKB. Group-specific prediction accuracies range from 99.0% for the White group in UKB to 92.9% for the Hispanic group in All of Us. Prediction accuracies are substantially lower for individuals who identified with more than one group in All of Us (16.7%) or as Mixed in UKB (70.7%). There are numerous individual pharmacogenomic variants with large allele frequency differences between race/ethnicity groups in both cohorts. Frequency differences for toxicity-associated variants predict hundreds of adverse drug reactions per 1000 treated participants for minority groups in All of Us. Our results indicate that race and ethnicity can be used to stratify pharmacogenomic risk in the US and UK populations and should not be discounted when making treatment decisions. We resolve the contradiction between the results reported here and the orthodoxy of race and ethnicity as non-genetic, social constructs by emphasizing the distinction between global and local patterns of human genetic diversity, and we stress the current and future limitations of race and ethnicity as proxies for pharmacogenomic variation.

Genomic basis of selective breeding from the closest wild relative of large-fruited tomato.

The long and intricate domestication history of the tomato (Solanum lycopersicum) includes selection sweeps that have not been fully explored, and these sweeps show significant evolutionary trajectories of domestication traits. Using three distinct selection strategies, we represented comprehensive selected sweeps from 53 Solanum pimpinellifolium (PIM) and 166 S. lycopersicum (BIG) accessions, which are defined as pseudo-domestication in this study. We identified 390 potential selection sweeps, some of which had a significant impact on fruit-related traits and were crucial to the pseudo-domestication process. During tomato pseudo-domestication, we discovered a minor-effect allele of the SlLEA gene related to fruit weight (FW), as well as the major haplotypes of fw2.2/cell number regulator (CNR), fw3.2/SlKLUH, and fw11.3/cell size regulator (CSR) in cultivars. Furthermore, 18 loci were found to be significantly associated with FW and six fruit-related agronomic traits in genome-wide association studies. By examining population differentiation, we identified the causative variation underlying the divergence of fruit flavonoids across the large-fruited tomatoes and validated BRI1-EMS-SUPPRESSOR 1.2 (SlBES1.2), a gene that may affect flavonoid content by modulating the MYB12 expression profile. Our results provide new research routes for the genetic basis of fruit traits and excellent genomic resources for tomato genomics-assisted breeding.

Genome-wide dissection of the genetic factors underlying food quality in boiled and pounded white Guinea yam.

Food quality traits related to the genetics of yam influence the acceptability for its consumption. This study aimed at identifying genetic factors underlying sensory and textural quality attributes of boiled and pounded yam, the two dominant food products from white Guinea yam. A genome-wide association study (GWAS) of a panel of 184 genotypes derived from five multi-parent crosses population was conducted. The panel was phenotyped for the qualities of boiled and pounded yam using sensory quality and instrument-based textural profile assays. The genotypes displayed significant variation for most of the attributes. Population differentiation and structure analysis using principal component analysis (PCA) and population structure-based Bayesian information criteria revealed the presence of four well-defined clusters. The GWAS results from a multi-random mixed linear model with kinship and PCA used as covariate identified 13 single-nucleotide polymorphic (SNP) markers significantly associated with the boiled and pounded yam food qualities. The associated SNP markers explained 7.51-13.04% of the total phenotypic variance with a limit of detection exceeding 4. Regions on chromosomes 7 and 15 were found to be associated with boiled and pounded yam quality attributes from sensory and instrument-based assays. Gene annotation analysis for the regions of associated SNPs revealed co-localization of several known putative genes involved in glucose export, hydrolysis and glycerol metabolism. Our study is one of the first reports of genetic factors underlying the boiled and pounded yam food quality to pave the way for marker-assisted selection in white Guinea yam. © 2023 Society of Chemical Industry.

Adaptive divergence and genetic vulnerability of relict species under climate change: a case study of Pterocarya macroptera.

Understanding adaptive genetic variation and whether it can keep pace with predicted future climate change is critical in assessing the genetic vulnerability of species and developing conservation management strategies. The lack of information on adaptive genetic variation in relict species carrying abundant genetic resources hinders the assessment of genetic vulnerability. Using a landscape genomics approach, this study aimed to determine how adaptive genetic variation shapes population divergence and to predict the adaptive potential of Pterocarya macroptera (a vulnerable relict species in China) under future climate scenarios. We applied restriction site-associated DNA sequencing (RAD-seq) to obtain 8244 single-nucleotide polymorphisms (SNPs) from 160 individuals across 28 populations. We examined the pattern of genetic diversity and divergence, and then identified outliers by genetic differentiation (FST) and genotype-environment association (GEA) methods. We further dissected the effect of geographical/environmental gradients on genetic variation. Finally, we predicted genetic vulnerability and adaptive risk under future climate scenarios. We identified three genetic lineages within P. macroptera: the Qinling-Daba-Tianmu Mountains (QDT), Western Sichuan (WS) and Northwest Yunnan (NWY) lineages, which showed significant signals of isolation by distance (IBD) and isolation by environment (IBE). IBD and IBE explained 3.7-5.7 and 8.6-12.8 % of the genetic structure, respectively. The identified GEA SNP-related genes were involved in chemical defence and gene regulation and may exhibit higher genetic variation to adapt to the environment. Gradient forest analysis revealed that the genetic variation was mainly shaped by temperature-related variables, indicating its adaptation to local thermal environments. A limited adaptive potential was suggested by the high levels of genetic vulnerability in marginal populations. Environmental gradient mainly shaped the population differentiation of P. macroptera. Marginal populations may be at high risk of extinction, and thus proactive management measures, such as assisted gene flow, are required to ensure the survival of these populations.

LncRNAs associated with vascular mimicry establish a novel molecular subtype and prognostic model for pancreatic cancer.

Vascular mimicry (VM) epitomizes an innovative tumor angiogenesis pathway, potentially serving as an alternate conduit under the assumption of traditional tumor angiogenesis pathway inhibition. The role of VM in pancreatic cancer (PC), however, remains unexplored. Using differential analysis and Spearman correlation, we identified key long non-coding RNAs (lncRNAs) signatures in PC from the collected set of VM-associated genes in the literature. We identified optimal clusters using the non-negative matrix decomposition (NMF) algorithm, and then compared clinicopathological features and prognostic differences between clusters. We also assessed tumor microenvironmental (TME) differences between clusters using multiple algorithms. Using univariate Cox regression analyses as well as lasso regression, we constructed and validated new lncRNA prognostic risk models for PC. We used Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) to analyze model-enriched functions and pathways. Nomograms were then developed to predict patient survival in association with clinicopathological factors. In addition, single-cell RNA-sequencing (scRNA-seq) analysis was used to analyze the expression patterns of VM-related genes and lncRNAs in the PC of TME. Finally, we used the Connectivity Map (cMap) database to predict local anaesthetics that could modify the VM of PC. In this study, we developed a novel three-cluster molecular subtype using the identified VM-associated lncRNA signatures of PC. The different subtypes have significantly different clinical characteristics and prognostic value, and also show differential treatment response and TME. Following an in-depth analysis, we constructed and validated a novel prognostic risk model for PC based on the VM-associated lncRNA signatures. Enrichment analysis suggested that high riskscores were significantly associated with functions and pathways, including extracellular matrix remodeling, et al. In addition, we predicted eight local anaesthetics that could modulate VM in PC. Finally, we discovered differential expression of VM-related genes and lncRNAs across various cell types within pancreatic cancer. VM has a critical role in PC. This study pioneers the development of a VM-based molecular subtype that demonstrates substantial differentiation in PC populations. Furthermore, we highlighted the significance of VM within the immune microenvironment of PC. Moreover, VM might contribute to PC tumorigenesis through its mediation of mesenchymal remodeling and endothelial transdifferentiation-related pathways, which offers a new perspective on its role in PC.

Single nucleotide polymorphism analysis in Leptospermum scoparium (Myrtaceae) supports two highly differentiated endemic species in Aotearoa New Zealand and Australia

Leptospermum scoparium is the basis of a flourishing honey industry in Aotearoa New Zealand (NZ) and Australia. The genetic structure of L. scoparium across its range in NZ and Australia was previously assessed using pooled, whole genome sequencing; however, only one sampling site in Tasmania was included. Here, we used a single nucleotide polymorphism (SNP) array for genotyping samples of L. scoparium collected in natural stands around Tasmania and NZ, to determine the genetic relationship between L. scoparium individuals from the two regions. In total, 2069 high quality, polymorphic SNP markers were applied across the sample set of 504 individuals, revealing that Tasmanian L. scoparium are genetically distinct from NZ mānuka, confirming the observation from the pooled whole genome sequencing project. FST and discriminant analysis of principal components confirmed that the Tasmanian populations are well differentiated genetically from NZ populations, suggesting that they should be recognised as a separate, endemic Australian species. Within NZ, eight geographic groups are distinguished with genotypic variation exhibiting north to south landscape scale patterns with regional genetic clusters. We found support for isolation by distance, and this was reflected in the range of pairwise FST values estimated between NZ genetic clusters (0.056 to 0.356); however, each geographic genetic group exhibits geneflow and is only weakly differentiated from neighbouring clusters as evidenced by low population differentiation (low pairwise FST). These data provide little support for taxonomic revision and subdividing L. scoparium into segregate species within NZ.

Metapangenomic investigation provides insight into niche differentiation of methanogenic populations from the subsurface serpentinizing environment, Samail Ophiolite, Oman.

Serpentinization reactions produce highly reduced waters that have hyperalkaline pH and that can have high concentrations of H2 and CH4. Putatively autotrophic methanogenic archaea have been identified in the subsurface waters of the Samail Ophiolite, Sultanate of Oman, though the strategies to overcome hyperalkaline pH and dissolved inorganic carbon limitation remain to be fully understood. Here, we recovered metagenome assembled genomes (MAGs) and applied a metapangenomic approach to three different Methanobacterium populations to assess habitat-specific functional gene distribution. A Type I population was identified in the fluids with neutral pH, while a Type II and "Mixed" population were identified in the most hyperalkaline fluids (pH 11.63). The core genome of all Methanobacterium populations highlighted potential DNA scavenging techniques to overcome phosphate or nitrogen limitation induced by environmental conditions. With particular emphasis on the Mixed and Type II population found in the most hyperalkaline fluids, the accessory genomes unique to each population reflected adaptation mechanisms suggesting lifestyles that minimize niche overlap. In addition to previously reported metabolic capability to utilize formate as an electron donor and generate intracellular CO2, the Type II population possessed genes relevant to defense against antimicrobials and assimilating potential osmoprotectants to provide cellular stability. The accessory genome of the Mixed population was enriched in genes for multiple glycosyltransferases suggesting reduced energetic costs by adhering to mineral surfaces or to other microorganisms, and fostering a non-motile lifestyle. These results highlight the niche differentiation of distinct Methanobacterium populations to circumvent the challenges of serpentinization impacted fluids through coexistence strategies, supporting our ability to understand controls on methanogenic lifestyles and adaptations within the serpentinizing subsurface fluids of the Samail Ophiolite.

Population structure of Pacific green turtles: a new perspective from microsatellite DNA variation

This study builds upon the current understanding of green turtle population genetic structure in the Pacific that has largely been based on mitochondrial DNA (mtDNA), by examining nuclear DNA (nDNA) diversity, regional connectivity, and male-mediated gene flow. A total of 1,111 nesting green turtle samples were analyzed with 10 microsatellite markers from 20 Pacific rookeries. Population differentiation (FST) was significant (p <0.05) in all but 8 of 190 pairwise rookery comparisons. PairwiseFSTvalues and discriminant analysis of principal components (DAPC) revealed a defined East-West split consistent with mtDNA studies. Additionally, isolation-by-distance was evaluated with estimated effective migration surfaces (EEMS). The data indicated structure throughout the Pacific rookeries largely in agreement with stock structure defined by mtDNA studies, except for some areas on the Central American and Australian continental shelves, providing evidence of possible male-mediated gene flow. The series of analyses performed did indicate that male-mediated gene flow has likely occurred where breeding migration corridors of separate populations overlap with courtship areas. This may occur primarily along the margins of continents, including along Mexico and Central America in the East Pacific. Our study provides an ocean-wide baseline nDNA dataset for green turtle rookeries in the Pacific and reexamines the current thinking regarding the role of male turtles in the population dynamics of management units (MU) and to what extent nuclear gene flow occurs among designated MUs.

Inferring human neutral genetic variation from craniodental phenotypes.

There is a growing consensus that global patterns of modern human cranial and dental variation are shaped largely by neutral evolutionary processes, suggesting that craniodental features can be used as reliable proxies for inferring population structure and history in bioarchaeological, forensic, and paleoanthropological contexts. However, there is disagreement on whether certain types of data preserve a neutral signature to a greater degree than others. Here, we address this unresolved question and systematically test the relative neutrality of four standard metric and nonmetric craniodental data types employing an extensive computational genotype-phenotype comparison across modern populations from around the world. Our computation draws on the largest existing data sets currently available, while accounting for geographically structured environmental variation, population sampling uncertainty, disparate numbers of phenotypic variables, and stochastic variation inherent to a neutral model of evolution. Our results reveal that the four data types differentially capture neutral genomic variation, with highest signals preserved in dental nonmetric and cranial metric data, followed by cranial nonmetric and dental metric data. Importantly, we demonstrate that combining all four data types together maximizes the neutral genetic signal compared with using them separately, even with a limited number of phenotypic variables. We hypothesize that this reflects a lower level of genetic integration through pleiotropy between, compared to within, the four data types, effectively forming four different modules associated with relatively independent sets of loci. Therefore, we recommend that future craniodental investigations adopt holistic combined data approaches, allowing for more robust inferences about underlying neutral genetic variation.

Patterns of Phenetic Diversity and Taxonomy of the Ide <i>Leuciscus idus</i> (Cypriniformes, Cyprinidae) from Water Bodies of Russia and Adjacent Countries

Using the methods of population morphology, we studied the structure of phenetic diversity of the ide Leuciscus idus (L.) from the water bodies of the Russian Federation and some neighboring countries. We analysed our own collection and literature data on meristic characters of external morphology, axial skeleton, as well as the pharyngeal teeth formula. The main features contributing to population differentiation were the number of lateral line scales, total vertebrae count, caudal and pre-caudal vertebrae ratio. It was shown that the strong positive relationships of the first two features with the geographical latitude of fish habitats is associated, first of all, not with the direct influence of physical factors functionally dependent on latitude, but with particular (sub)speciation processes in river basins and dispersal of evolutionarily derived forms to the north. The results obtained are discussed in terms of evolutionary trends in the subfamily Leuciscinae and call for a taxonomic revision of the L. idus species in its current volume with elevation of the former subspecies L. idus oxianus to a species rank.

Genetic diversity of wedgefishes and guitarfishes at landing sites in east Indonesia using Cytochrome Subunit I (COI)

Abstract. Tapilatu ME, Wijayanti DP, Subagiyo, Sembiring A, Yusmalinda NLA, NIngsih EY, Malik MDA, Pertiwi NPD. 2023. Genetic diversity of wedgefishes and guitarfishes at landing sites in east Indonesia using Cytochrome Subunit I (COI). Biodiversitas 24: 3120-3127. Wedgefish and guitarfish are considered endangered and protected by law in Indonesia due to pressure from overexploitation. They are highly exploited because of their economic value. This condition impacts the decline in the number of populations to the value of genetic diversity. This study used mitochondrial DNA to assess the genetic diversity of wedgefishes and guitarfishes which landed in the eastern part of Indonesia. We found Rhynchobatus australiae (Whitley, 1939) to be the most common species (14 out of 26 sequenced samples), with Glaucostegus typus (Bennett, 1830) and Rhinobatos jimbaranensis (Last, White, & Fahmi, 2006) appearing infrequently. COI sequences were obtained from the NCBI database and utilized in the study to compare population differentiation. Among the R. australiae populations, the results showed that the genetic diversity (Hd) values from Papua, Bali, and Lombok were 1.00, 0.67, and 0.75, respectively. In Papua, G.typus populations showed genetic diversity values of 0.90. R. jimbaranensis from Bali showed a genetic diversity of 0.50. Papua populations indicated higher genetic diversity than Bali and Lombok populations. Furthermore, the analyses of pairwise FST values and AMOVA indicated moderate genetic divergence across reference populations of R. australiae and G. typus in this study. Based on this value, a cautious conservation strategy in optimizing fisheries management will be required to limit anthropogenic impacts.

Genomic insights into selection for heterozygous alleles and woody traits in Populus tomentosa.

Heterozygous alleles are widespread in outcrossing and clonally propagated woody plants. The variation in heterozygosity that underlies population adaptive evolution and phenotypic variation, however, remains largely unknown. Here, we describe a de novo chromosome-level genome assembly of Populus tomentosa, an economic and ecologically important native tree in northern China. By resequencing 302 natural accessions, we determined that the South subpopulation (Pop_S) encompasses the ancestral strains of P. tomentosa, while the Northwest subpopulation (Pop_NW) and Northeast subpopulation (Pop_NE) experienced different selection pressures during population evolution, resulting in significant population differentiation and a decrease in the extent of heterozygosity. Analysis of heterozygous selective sweep regions (HSSR) suggested that selection for lower heterozygosity contributed to the local adaptation of P. tomentosa by dwindling gene expression and genetic load in the Pop_NW and Pop_NE subpopulations. Genome-wide association studies (GWAS) revealed that 88 single nucleotide polymorphisms (SNPs) within 63 genes are associated with nine wood composition traits. Among them, the selection for the homozygous AA allele in PtoARF8 is associated with reductions in cellulose and hemicellulose contents by attenuating PtoARF8 expression, and the increase in lignin content is attributable to the selection for decreases in exon heterozygosity in PtoLOX3 during adaptive evolution of natural populations. This study provides novel insights into allelic variations in heterozygosity associated with adaptive evolution of P. tomentosa in response to the local environment and identifies a series of key genes for wood component traits, thereby facilitating genomic-based breeding of important traits in perennial woody plants.

The genetic basis of conspicuous coloration in the Guadeloupean anole: Evolution by sexual and ecological selection

AbstractUnderstanding how natural selection acts on the genome and contributes to the process of speciation is a primary aim of the study of evolution. Here we used natural variation in two subspecies of the Guadeloupean anole (Anolis marmoratus ssp.), from the island of Guadeloupe in the Lesser Antilles, to explore the genomic basis of adaptation and speciation in Anolis lizards. These subspecies inhabit distinct ecological environments and display marked differences in adult male color and pattern. We sequenced the complete genomes of 20 anoles, 10 from each subspecies, at 1.4× coverage. We used genome‐wide scans of population differentiation, allele frequency spectrum, and linkage disequilibrium to characterize the genomic architecture within and between the subspecies. While most of the genome was undifferentiated, we observed five large divergent regions. Within these regions we identified blocks, 5 kb pairs in length, enriched for fixed single nucleotide polymorphisms. These blocks encompass 97 genes, two of which are candidate pigmentation genes. One is melanophilin (mlph), which helps transport melanosomes within melanocytes. The other is a cluster of differentiation 36 (cd36), which regulates carotenoid pigment sequestration. We used high‐pressure liquid chromatography to confirm that carotenoid pigments are significantly more abundant in the conspicuous orange‐pigmented skin of male A. m. marmoratus suggesting that cd36 may be regulating pigment deposition in this tissue. We identified for the first time a carotenoid gene that is a potential target of divergent sexual selection and may be contributing to the early stages of speciation in Anolis lizards.

Genomes of the extinct Bachman's warbler show high divergence and no evidence of admixture with other extant Vermivora warblers.

Bachman's warbler1 (Vermivora bachmanii)-last sighted in 1988-is one of the only North American passerines to recently go extinct.2,3,4 Given extensive ongoing hybridization of its two extant congeners-the blue-winged warbler (V.cyanoptera) and golden-winged warbler (V.chrysoptera)5,6,7,8-and shared patterns of plumage variation between Bachman's warbler and hybrids between those extant species, it has been suggested that Bachman's warbler might have also had a component of hybrid ancestry. Here, we use historic DNA (hDNA) and whole genomes of Bachman's warblers collected at the turn of the 20th century to address this. We combine these data with the two extant Vermivora species to examine patterns of population differentiation, inbreeding, and gene flow. In contrast to the admixture hypothesis, the genomic evidence is consistent with V.bachmanii having been a highly divergent, reproductively isolated species, with no evidence of introgression. We show that these three species have similar levels of runs of homozygosity (ROH), consistent with effects of a small long-term effective population size or population bottlenecks, with one V.bachmanii outlier showing numerous long ROH and a FROH greater than 5%. We also found-using population branch statistic estimates-previously undocumented evidence of lineage-specific evolution in V.chrysoptera near a pigmentation gene candidate, CORIN, which is a known modifier of ASIP, which is in turn involved in melanic throat and mask coloration in this family of birds. Together, these genomic results also highlight how natural history collections are such invaluable repositories of information about extant and extinct species.

A survey of the genome-wide genetic variation of <i>Hibiscus hamabo</i> (Malvaceae)

<i>Hibiscus hamabo</i> (Malvaceae) is a deciduous shrub mainly found in northeast Asia, including China, Japan, and Korea. Due to its limited distribution on Jejudo Island and at several sites in Jeollanam-do in Korea, <i>H. hamabo</i> has been designated as an endangered species by the Ministry of the Environment and has been the subject of several restoration programs. In this study, we quantified genetic variations using double-digestion restrictionassociated DNA sequencing technology in 96 individuals of <i>H. hamabo</i> from 13 distinct populations in Korea. We determined 3,352 genome-wide single nucleotide polymorphism loci after stringent filtering processes and analyzed the level of genetic variation within and among populations as well as the population differentiation and genetic ancestry with various assumptions pertaining to the population origin. Our results indicated weak differentiations among populations surveyed in this study but clearly suggested that most of the <i>H. hamabo</i> populations maintain a relatively high level of genetic diversity as evidence of frequent genetic exchanges among populations via outcrossing or sequential gene flows. For a more detailed analysis of the origin of Korean <i>H. hamabo</i> and its demographic history, it will be necessary to expand sampling in China and Japan.

A bioinformatic approach to identify pathogenic variants for Stevens-Johnson syndrome.

Stevens-Johnson syndrome (SJS) produces a severe hypersensitivity reaction caused by Herpes simplex virus or mycoplasma infection, vaccination, systemic disease, or other agents. Several studies have investigated the genetic susceptibility involved in SJS. To provide further genetic insights into the pathogenesis of SJS, this study prioritized high-impact, SJS-associated pathogenic variants through integrating bioinformatic and population genetic data. First, we identified SJS-associated single nucleotide polymorphisms from the genome-wide association studies catalog, followed by genome annotation with HaploReg and variant validation with Ensembl. Subsequently, expression quantitative trait locus (eQTL) from GTEx identified human genetic variants with differential gene expression across human tissues. Our results indicate that two variants, namely rs2074494 and rs5010528, which are encoded by the HLA-C (human leukocyte antigen C) gene, were found to be differentially expressed in skin. The allele frequencies for rs2074494 and rs5010528 also appear to significantly differ across continents. We highlight the utility of these population-specific HLA-C genetic variants for genetic association studies, and aid in early prognosis and disease treatment of SJS.

The triangle relationship between human genome, gut microbiome, and COVID-19: opening of a Pandora's box.

Since the pandemic started, the coronavirus disease 2019 (COVID-19) has spread worldwide. In patients with COVID-19, the gut microbiome (GM) has been supposed to be closely related to the progress of the disease. The gut microbiota composition and human genetic variation are also connected in COVID-19 patients, assuming a triangular relationship between the genome, GM, and COVID-19. Here, we reviewed the recent developments in the study of the relationship between gut microbiota and COVID-19. The keywords "COVID-19," "microbiome," and "genome" were used to search the literature in the PubMed database. We first found that the composition of the GM in COVID-19 patients varies according to the severity of the illness. Most obviously, Candida albicans abnormally increased while the probiotic Bifidobacterium decreased in severe cases of COVID-19. Interestingly, clinical studies have consistently emphasized that the family Lachnospiraceae plays a critical role in patients with COVID-19. Additionally, we have demonstrated the impact of microbiome-related genes on COVID-19. Specially, we focused on angiotensin-converting enzyme 2's dual functions in SARS-CoV-2 infection and gut microbiota alternation. In summary, these studies showed that the diversity of GMs is closely connected to COVID-19. A triangular relationship exists between COVID-19, the human genome, and the gut flora, suggesting that human genetic variations may offer a chance for a precise diagnosis of COVID-19, and the important relationships between genetic makeup and microbiome regulation may affect the therapy of COVID-19.