Phenotypic Variation Research Articles

Candida auris: An Emerging Challenge in Clinical Mycology and Public Health in Latin America

Candida auris is an emerging fungus that poses a critical challenge in clinical mycology and global public health. Identified in 2005, this pathogen has caused hospital outbreaks due to its resistance to multiple antifungals and ability to persist in hospital settings. In Latin America, C. auris has been reported since 2012 in several countries, including a case in Ecuador in 2024. Its emergence has been linked to climate change and the excessive use of antifungals, which could be favoring its proliferation. The diagnosis of C. aurisis complex and requires advanced methods such as MALDI-TOF mass spectrometry and molecular techniques due to its phenotypic variability. Another factor to be relevant to public health is resistance to conventional treatments. In addition, genomic surveillance is essential to understand the epidemiology of this pathogen and control its spread in hospital settings. Urgent prevention, detection, and treatment measures are necessary to limit the spread of C. auris in the region and minimize its impact on public health. Implementing comprehensive strategies, including genomic surveillance and advanced diagnostic techniques, is crucial to address this emerging problem in Latin America. Keywords: Candida auris, Fungal infections, Antifungal resistance, Clinical mycology, Genomic surveillance, Latin America.

Flower position within plants influences reproductive success both directly and via phenology.

In plants, within-individual trait variation might result from mechanisms related to ontogenetic contingency, i.e., to the position of a particular structure within the plant, previous developmental events, and/or the developmental environment. Flower position within inflorescences as well as inflorescence position within plants can influence resource provisioning, phenology, biotic interactions, and reproductive success. Despite the potential implications of within-individual variation in plant reproductive phenotypes, its causes and effects on reproductive success are still little explored. We assessed how reproductive success, in terms of fruit and seed set, and seed predation of 5883 flowers in Lathyrus vernus were influenced by their position within and among racemes, to what extent relationships between flower position and reproductive success and seed predation were mediated by phenology, and if positional effects on reproductive success depended on the external environment. In three years, basal flowers and racemes opened earlier and had higher fruit set than distal. Basal flowers also experienced higher seed predation. Differences among racemes in fruit and seed set were largely related to phenology, while differences in fruit set, seed set, and seed predation within racemes were not. In one year, differences in fruit set among flowers at different positions depended on flowering duration. Our results highlight the important role of ontogenetic contingency for within-individual variation in phenology and reproductive success. As the spatial distribution of reproductive structures affects both within-plant trait distributions and fitness, it is a likely target for natural selection.

The role of mate competition in speciation and divergence: a systematic review.

Competition for mates can play a critical role in determining reproductive success, shaping phenotypic variation within populations, and influencing divergence. Yet, studies of the role of sexual selection in divergence and speciation have focused disproportionately on mate choice. Here, we synthesize the literature on how mate competition may contribute to speciation and integrate concepts from work on sexual selection within populations - mating systems, ecology, and mate choice. Using this synthesis, we generate testable predictions for how mate competition may contribute to divergence. Then, we identify the extent of existing support for these predictions in the literature with a systematic review of the consequences of mate competition for population divergence across a range of evolutionary, ecological, and geographic contexts. We broadly evaluate current evidence, identify gaps in available data and hypotheses that need testing, and outline promising directions for future work. A major finding is that mate competition may commonly facilitate further divergence after initial divergence has occurred, e.g., upon secondary contact and between allopatric populations. Importantly, current hypotheses for how mate competition contributes to divergence do not fully explain observed patterns. While results from many studies fit predictions of negative frequency dependent selection, agonistic character displacement, and ecological selection, results from ~30% studies did not fit existing conceptual models. This review identifies future research aims for scenarios in which mate competition is likely important but has been understudied, including how ecological context and interactions between mate choice and mate competition can facilitate or hinder divergence and speciation.

Genome-wide association study and molecular marker development for susceptibility to Gibberella ear rot in maize.

Sixty-nine quantitative trait nucleotides conferring maize resistance to Gibberella ear rot were detected, including eighteen novel loci. Four candidate genes were predicted, and four kompetitive allele-specific PCR markers were developed. Maize Gibberella ear rot (GER), caused by Fusarium graminearum, is one of the most devastating diseases in maize-growing regions worldwide. Enhancing maize cultivar resistance to this disease requires a comprehensive understanding of the genetic basis of resistance to GER. In this study, 334 maize inbred lines were phenotyped for GER resistance in five environments and genotyped using the Affymetrix CGMB56K SNP Array, and a genome-wide association study of resistance to GER was performed using a 3V multi-locus random-SNP-effect mixed linear model. A total of 69 quantitative trait nucleotides (QTNs) conferring resistance to GER were detected, and all of them explained individually less than 10% of the phenotypic variation, suggesting that resistance to GER is controlled by multiple minor-effect genetic loci. A total of 348 genes located around the 200-kb genomic region of these 69 QTNs were identified, and four of them (Zm00001d029648, Zm00001d031449, Zm00001d006397, and Zm00001d053145) were considered candidate genes conferring susceptibility to GER based on gene expression patterns. Moreover, four kompetitive allele-specific PCR markers were developed based on the non-synonymous variation of these four candidate genes and validated in two genetic populations. This study provides useful genetic resources for improving resistance to GER in maize.

Grow with the flow: Is phenotypic plasticity across hydrodynamic gradients common in seaweeds?

Seaweeds are widely assumed to be phenotypically plastic across hydrodynamic gradients, yet while many marine macroalgae exhibit intraspecific phenotypic variation that correlates with flow, researchers often fail to test whether such variation is due to plasticity or another mechanism, such as local adaptation. In this minireview, we considered mechanisms for sensing flow in seaweeds that could facilitate adaptive phenotypic plasticity across hydrodynamic gradients. We then reviewed the literature from 1900 to 2024 to see how often phenotypic variation and plasticity across hydrodynamic gradients had been observed and demonstrated in different groups of seaweeds. In the last 124 years, phenotypic variation and plasticity in response to flow have been well documented in brown algae but scarcely documented in red and green algae. This could suggest that brown algae are better able to sense and respond to flow than red and green algae, perhaps due to the intercalary meristem of many brown algae, including most kelps. However, this skewed distribution could also be the result of publication bias, as most studies involving flow have been conducted on brown algae. Only 30% of 141 papers specifically investigated if observations of phenotypic variation along hydrodynamic gradients were due to plasticity. To date, phenotypic plasticity in response to flow has been demonstrated in 20 brown algal species, five red algal species, and two green algal species. Thus, the assumption that phenotypic plasticity to flow is common across seaweeds is not particularly well supported by the literature. Mechanisms underlying plasticity to flow are poorly understood and remain a critical avenue for future research.

347 Quantifying phenotypic and genetic variation for cow fertility phenotypes in American Simmentals using total herd reporting data

Abstract Inefficiencies in reproduction are the largest drivers of loss in United States beef production. Nearly all reproductive traits are at least modestly heritable, making genetic selection and improvement possible over the long term. Cow-centric reproductive traits present unique challenges, as they are not expressed in male animals and will not be observed until later in the productive life of a female, if at all. This makes cow-centric fertility traits ideal candidates for selection with Expected Progeny Differences (EPDs). We used a commercially generated dataset from the American Simmental Association (ASA) to explore the phenotypic and genetic variation in these traits. The dataset comprised Total Herd Enrollment (THE) records, which required unbiased reporting of enrollment, calving, and disposal for 303,158 females (132,403 cows and 170,755 heifers). Using the THE data, we calculated three continuous and two discrete traits that are indicators of heifer and cow fertility and rebreeding ability. These traits were: 1) calving date (calving date of the cow relative to the start of the calving season), 2) calving interval (days between calves), 3) first calving interval (calving interval observation between the first and second calving record for a female), 4) heifer pregnancy (did the animal calve as 2-yr-old?), and 5) discrete early calving (did animal calve in the first 30 d of the calving season?). We observed a significant difference in calving date in mature cows that calved in the first 30 d of the calving season of their contemporary group as heifers compared with those that calved later (Table 1). Early calving heifers averaged a nearly 10 d sooner calving date throughout their productive lives compared with those that calved after 30 d as heifers (29.9 d vs. 40.2 d, P-value < 0.01). We used a combined pedigree and genomic approach, implemented in GIBBSF90+, to estimate genetic, environmental, and permanent environmental variance components. We estimated heritabilities of 0.24 (± 0.037215) for heifer pregnancy, 0.06 (± 0.009265) for calving date, 0.07 (± 0.015451) for discrete early calving, 0.04 (± 0.003954) for calving interval, and 0.04 (± 0.009604) for first calving interval. We observed positive phenotypic and genetic correlations between these traits, ranging from 0.01 to 0.96 (Table 2). This work provides an extensive population survey of phenotypic trends in reproductive performance and management in a large seedstock population. The heritable nature of the inspected traits motivates further work in understanding their genetic architectures and how they are affected by heterosis in crossbreeding programs.

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population

BackgroundHearing loss (HL) is the most common sensory birth deficit worldwide, with causative variants in more than 150 genes. However, the etiological contribution and clinical manifestations of X-linked inheritance in HL remain unclear within the Chinese HL population. In this study, we focused on X-linked hereditary HL and aimed to assess its contribution to hereditary HL and identify the genotype–phenotype relationship.MethodsWe performed a molecular epidemiological investigation of X-linked hereditary HL based on next-generation sequencing and third-generation sequencing in 3646 unrelated patients with HL. We also discussed the clinical features associated with X-linked non-syndromic HL-related genes based on a review of the literature.ResultsWe obtained a diagnostic rate of 52.72% (1922/3646) among our patients; the aggregate contribution of HL caused by genes on the X chromosome in this cohort was ~ 1.14% (22/1922), and POU3F4 variants caused ~ 59% (13/22) of these cases. We found that X-linked HL was congenital or began during childhood in all cases, with representative audiological profiles or typical cochlear malformations in certain genes. Genotypic and phenotypic analyses showed that causative variants in PRPS1 and AIFM1 were mainly of the missense type, suggesting that phenotypic variability was correlated with the different effects that the replaced residues exert on structure and function. Variations in SMPX causing truncation of the protein product were associated with DFNX4, which resulted in typical audiological profiles before and after the age of 10 years, whereas nontruncated proteins typically led to distal myopathy. No phenotypic differences were identified in patients carrying POU3F4 or COL4A6 variants.ConclusionsOur work constitutes a preliminary evaluation of the molecular contribution of X-linked genes in heritable HL (~ 1.14%). The 15 novel variants reported here expand the mutational spectrum of these genes. Analysis of the genotype–phenotype relationship is valuable for X-linked HL precise diagnostics and genetic counseling. Elucidation of the pathogenic mechanisms and audiological profiles of HL can also guide choices regarding treatment modalities.

Ethnic and region-specific genetic risk variants of stroke and its comorbid conditions can define the variations in the burden of stroke and its phenotypic traits.

Burden of stroke differs by region, which could be attributed to differences in comorbid conditions and ethnicity. Genomewide variation acts as a proxy marker for ethnicity, and comorbid conditions. We present an integrated approach to understand this variation by considering prevalence and mortality rates of stroke and its comorbid risk for 204 countries from 2009 to 2019, and Genome-wide association studies (GWAS) risk variant for all these conditions. Global and regional trend analysis of rates using linear regression, correlation, and proportion analysis, signifies ethnogeographic differences. Interestingly, the comorbid conditions that act as risk drivers for stroke differed by regions, with more of metabolic risk in America and Europe, in contrast to high systolic blood pressure in Asian and African regions. GWAS risk loci of stroke and its comorbid conditions indicate distinct population stratification for each of these conditions, signifying for population-specific risk. Unique and shared genetic risk variants for stroke, and its comorbid and followed up with ethnic-specific variation can help in determining regional risk drivers for stroke. Unique ethnic-specific risk variants and their distinct patterns of linkage disequilibrium further uncover the drivers for phenotypic variation. Therefore, identifying population- and comorbidity-specific risk variants might help in defining the threshold for risk, and aid in developing population-specific prevention strategies for stroke.

Genetic and environmental contributions to the development of soft tissue facial profile: a twin study.

This study aimed to determine the relative contribution of genetic and environmental factors in the phenotypic variation of the soft tissue facial profile during the mixed dentition and the permanent dentition stages. In this retrospective cohort study, standardized facial profile photographs of 139 twin pairs (55 monozygotic and 84 dizygotic) were obtained from archival records at the Adelaide Dental School. Photographic analysis used 12 angular and 14 linear facial profile measurements from the mixed dentition (7-11 years) to the permanent dentition (12-17 years) stages. A genetic analysis was performed using a univariate structural equation model adhering to the normal assumptions of a twin model. In the mixed dentition stage, the additive genetic (A) and unique environment (E) model, AE model, was the most parsimonious in explaining the observed phenotypic variance for all 26 facial traits with the narrow-sense heritability estimates ranging between 0.38 and 0.79. In the permanent dentition, the AE model was the most parsimonious for 20 out of 26 traits, however, the variance of six traits, particularly those in the lower third of the face, was best explained by the shared environmental and unique environmental factors. This study exclusively included twins of European ancestry. The soft tissue facial profile demonstrated dynamic genetic and environmental influences with a greater additive genetic influence during the mixed dentition and the early stages of the permanent dentition. However, there was evidence of increasing environmental influence in the lower third of the face during the early stages of the permanent dentition.

Causal interpretations of family GWAS in the presence of heterogeneous effects

Family-based genome-wide association studies (GWASs) are often claimed to provide an unbiased estimate of the average causal effects (or average treatment effects; ATEs) of alleles, on the basis of an analogy between the random transmission of alleles from parents to children and a randomized controlled trial. We show that this claim does not hold in general. Because Mendelian segregation only randomizes alleles among children of heterozygotes, the effects of alleles in the children of homozygotes are not observable. This feature will matter if an allele has different average effects in the children of homozygotes and heterozygotes, as can arise in the presence of gene-by-environment interactions, gene-by-gene interactions, or differences in linkage disequilibrium patterns. At a single locus, family-based GWAS can be thought of as providing an unbiased estimate of the average effect in the children of heterozygotes (i.e., a local average treatment effect; LATE). This interpretation does not extend to polygenic scores (PGSs), however, because different sets of SNPs are heterozygous in each family. Therefore, other than under specific conditions, the within-family regression slope of a PGS cannot be assumed to provide an unbiased estimate of the LATE for any subset or weighted average of families. In practice, the potential biases of a family-based GWAS are likely smaller than those that can arise from confounding in a standard, population-based GWAS, and so family studies remain important for the dissection of genetic contributions to phenotypic variation. Nonetheless, their causal interpretation is less straightforward than has been widely appreciated.

Influence of geographic isolation and the environment on gene flow among phenotypically diverse lizards

Lizards in the genus Anolis comprise hundreds of species that display a wide range of phenotypic variation closely related to their environment. One example is the Guadeloupean anole (Anolis marmoratus ssp.) that display extreme phenotypic variation, primarily in adult male color and pattern, with twelve described subspecies on the archipelago. Here we examine the relationship between phenotypic and genetic divergence among five subspecies on the two main islands and test the role of geographic isolation and the environment in reducing gene flow. We also examined two offshore island populations to assess the impact of complete geographic isolation on gene flow. We analyzed color phenotypes by measuring spectral reflectance and genomic diversity using SNPs. Genetic divergence was correlated with dorsolateral head and body color phenotypes, and slope and geographic distance were nearly equivalent at explaining this divergence. There was minimal genome-wide divergence at neutral loci among phenotypically disparate subspecies on the two main islands and their differentiation is consistent with a model of divergence with gene flow. Our spatial visualization of gene flow showed an impact of environmental features consistent with a hypothesis of ecologically driven divergence. Nonetheless, subspecies on the two main islands remain interconnected by substantial gene flow and their phenotypic variation is likely maintained at selection-gene flow equilibrium by divergent selection at loci associated with their color phenotypes. Greater isolation, such as inhabiting a remote island, may be required for reducing gene flow. Our findings highlight the role of the environment, adaptation, and geographic isolation on gene flow.

GENOME-WIDE ASSOCIATION STUDY OF YIELD-RELATED TRAITS IN A NESTED ASSOCIATION MAPPING POPULATION GROWN IN KAZAKHSTAN

This study evaluated 290 recombinant inbred lines (RILs) from the Nested Association Mapping (NAM) population in the UK, consisting of 24 hybrid families. All genotypes were grown in southeastern Kazakhstan (Kazakh Research Institute of Agriculture and Plant Growing, Almaty region, 2021-2022) and northern Kazakhstan (Alexandr Barayev Scientific-Production Center for Grain Farming, Akmola region, 2020). The studied traits included six yield-related characteristics: spike length (SL, cm), number of productive spikes per plant (NPS, pcs), number of kernels per spike (NKS, pcs), weight of kernels per spike (WKS, g), thousand kernel weight (TKW, g), and yield per square meter (YM2, g/m2). The significant phenotypic variability among genotypes was observed, which was suitable for the genome-wide association study of yield-related traits. Pearson's index showed positive correlations among most yield-related traits, although a negative correlation was found between NKS and TKW in southeastern, and no correlation was recorded for northern regions. Top-performing RILs, surpassing local checks, were identified for NKS, TKW, and YM2, suggesting their potential for breeding programs. The application of GWAS allowed the identification of 72 quantitative trait loci (QTLs), including 36 QTLs in the southeastern region, 16 QTLs in the northern region, and 19 in both locations. Eleven QTLs matched those reported in previous QTL mapping studies and GWAS for studied traits. The results can be used for further studies related to the adaptation and productivity of wheat in breeding projects for higher grain productivity.

Validation and identification of new QTLs for plant and fruit developmental and composition traits in eggplant under low N conditions

Enhancing plant adaptation to low input conditions is a fundamental goal for implementing sustainable agriculture. In the present study, two eggplant (Solanum melongena) accessions (MEL1 and MEL5), two introgression lines (ILs) derived from eggplant wild relatives S. dasyphyllum (IL-M1-D1) and S. insanum (IL-M5-I9), and a heterozygous version of this last IL (ILHet-M5-I9), along with hybrids among them were evaluated under low N (LN) conditions. IL-M1-D1 carries an introgressed fragment of 4.9 Mb in homozygosis from S. dasyphyllum on chromosome 2, while IL-M5-I9 and ILHet-M5-I9 carry an introgression of 21.5 Mb on chromosome 9 in homozygosis and heterozygosis, respectively, from S. insanum. Multiple quantitative trait loci (QTLs) for several traits of interest were associated with both introgressions under LN conditions in a previous study with segregating advanced backcrosses. Here we evaluated the performance of these materials for 22 agronomic and developmental traits under low N fertilization (LN) conditions. Hybrids with the ILs enabled the study of genetic background effects on QTLs expression. The materials evaluated showed a significant phenotypic variation, particularly within hybrids segregating for the introgression from S. insanum in chromosome 9. Statistical analysis revealed no significant differences among hybrids carrying or not the introgression on chromosome 2 of S. dasyphyllum, and only slight differences were observed between the IL-M1-D1 and its recurrent parent S. melongena MEL1, suggesting a limited impact of this introgression on chromosome 2 on the phenotype variation. However, the differences observed between IL-M5-I9 and its recurrent parent S. melongena MEL5, together with the association between genotypic and phenotypic variation in hybrids segregating for this introgression, allowed the identification of 13 QTLs on chromosome 9. These results successfully validated the previously identified QTLs for flavonol content in leaves, nitrogen balanced index, fruit mean weight, and nitrogen content in leaves and, also revealed nine new QTLs associated with the introgressed genomic region in chromosome 9. This study emphasizes the influence of environmental conditions, genotypes, and genetic backgrounds on the phenotypic expression of eggplant QTLs introgressed from wild relatives and highlights the importance of QTL validation. These findings contribute valuable insights for developing new eggplant cultivars for a more sustainable agriculture, particularly with adaptation to LN conditions.

A sex chromosome polymorphism maintains divergent plumage phenotypes between extensively hybridizing yellowhammers (Emberiza citrinella) and pine buntings (E. leucocephalos).

Under allopatric speciation, populations of a species become isolated by a geographic barrier and develop reproductive isolation through genetic differentiation. When populations meet in secondary contact, the strength of evolved reproductive barriers determines the extent of hybridization and whether the populations will continue to diverge or merge together. The yellowhammer (Emberiza citrinella) and pine bunting (E. leucocephalos) are avian sister species that diverged in allopatry on either side of Eurasia during the Pleistocene glaciations. Though they differ greatly in plumage and form distinct genetic clusters in allopatry, these taxa show negligible mitochondrial DNA differentiation and hybridize extensively where they overlap in central Siberia, lending uncertainty to the state of reproductive isolation in the system. To assess the strength of reproductive barriers between taxa, we examined genomic differentiation across the system. We found that extensive admixture has occurred in sympatry, indicating that reproductive barriers between taxa are weak. We also identified a putative Z chromosome inversion region that underlies plumage variation in the system, with the 'pine bunting' haplotype showing dominance over the 'yellowhammer' haplotype. Our results suggest that yellowhammers and pine buntings are currently at a crossroads and that evolutionary forces may push this system towards either continued differentiation or population merging. However, even if these taxa merge, recombination suppression between putative chromosome Z inversion haplotypes may maintain divergent plumage phenotypes within the system. In this way, our findings highlight the important role hybridization plays in increasing the genetic and phenotypic variation as well as the evolvability of a system.

Creating cell-specific computational models of stem cell-derived cardiomyocytes using optical experiments.

Human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) have gained traction as a powerful model in cardiac disease and therapeutics research, since iPSCs are self-renewing and can be derived from healthy and diseased patients without invasive surgery. However, current iPSC-CM differentiation methods produce cardiomyocytes with immature, fetal-like electrophysiological phenotypes, and the variety of maturation protocols in the literature results in phenotypic differences between labs. Heterogeneity of iPSC donor genetic backgrounds contributes to additional phenotypic variability. Several mathematical models of iPSC-CM electrophysiology have been developed to help to predict cell responses, but these models individually do not capture the phenotypic variability observed in iPSC-CMs. Here, we tackle these limitations by developing a computational pipeline to calibrate cell preparation-specific iPSC-CM electrophysiological parameters. We used the genetic algorithm (GA), a heuristic parameter calibration method, to tune ion channel parameters in a mathematical model of iPSC-CM physiology. To systematically optimize an experimental protocol that generates sufficient data for parameter calibration, we created in silico datasets by simulating various protocols applied to a population of models with known conductance variations, and then fitted parameters to those datasets. We found that calibrating to voltage and calcium transient data under 3 varied experimental conditions, including electrical pacing combined with ion channel blockade and changing buffer ion concentrations, improved model parameter estimates and model predictions of unseen channel block responses. This observation also held when the fitted data were normalized, suggesting that normalized fluorescence recordings, which are more accessible and higher throughput than patch clamp recordings, could sufficiently inform conductance parameters. Therefore, this computational pipeline can be applied to different iPSC-CM preparations to determine cell line-specific ion channel properties and understand the mechanisms behind variability in perturbation responses.

Early exposure to phosphorus starvation induces genetically determined responses in Sorghum bicolor roots

Key message We identified novel physiological and genetic responses to phosphorus starvation in sorghum diversity lines that augment current knowledge of breeding for climate-smart crops in Europe.Phosphorus (P) deficiency and finite P reserves for fertilizer production pose a threat to future global crop production. Understanding root system architecture (RSA) plasticity is central to breeding for P-efficient crops. Sorghum is regarded as a P-efficient and climate-smart crop with strong adaptability to different climatic regions of the world. Here we investigated early genetic responses of sorghum RSA to P deficiency in order to identified genotypes with interesting root phenotypes and responses under low P. A diverse set of sorghum lines (n = 285) was genotyped using DarTSeq generating 12,472 quality genome wide single-nucleotide polymorphisms. Root phenotyping was conducted in a paper-based hydroponic rhizotron system under controlled greenhouse conditions with low and optimal P nutrition, using 16 RSA traits to describe genetic and phenotypic variability at two time points. Genotypic and phenotypic P-response variations were observed for multiple root traits at 21 and 42 days after germination with high broad sense heritability (0.38–0.76). The classification of traits revealed four distinct sorghum RSA types, with genotypes clustering separately under both low and optimal P conditions, suggesting genetic control of root responses to P availability. Association studies identified quantitative trait loci in chromosomes Sb02, Sb03, Sb04, Sb06 and Sb09 linked with genes potentially involved in P transport and stress responses. The genetic dissection of key factors underlying RSA responses to P deficiency could enable early identification of P-efficient sorghum genotypes. Genotypes with interesting RSA traits for low P environments will be incorporated into current sorghum breeding programs for later growth stages and field-based evaluations.

Multilocus sequence typing and phenotypic properties of Streptococcus mutans from Thai children with different caries statuses

BackgroundStreptococcus mutans is studied for its acidogenic and aciduric characteristics, notably its biofilm formation in the presence of sucrose, toward its role in the caries process. Variations in both genotype and phenotype have been reported among clinical isolates of S. mutans. This study aimed to examine genotypic and phenotypic characteristics of S. mutans obtained from Thai children with varying caries statuses.MethodsWe determined the presence of S. mutans and caries status in 395 children aged 3–4 years. From 325 children carrying S. mutans, we selected 90 with different caries statuses—caries-free (CF; n = 30), low severity of caries (LC; n = 30), or high severity of caries (HC; n = 30). Three isolates of S. mutans were taken from each child, thus, a total of 270 isolates were obtained. Multilocus sequence typing (MLST) was used to genotype the isolates and assess their clonal relationships. The properties, including biofilm formation, collagen binding, and acid production and tolerance were also evaluated.ResultsChildren with carious lesions showed a higher detection rate and number of S. mutans in saliva than those without caries. S. mutans from individuals with HC status showed the lowest biofilm formation ability, while this group had the highest detection rate of collagen-binding isolates. There was no difference in acid production or tolerance by caries status. Genotyping by MLST did not reveal any clone of S. mutans specific to CF status. This result remained even when we included MLST data from the open-access PubMLST database. MLST did identify clones containing only strains from caries-affected hosts, but tests of their phenotypic properties did not reveal any differences between S. mutans from these clones and clones that were from both caries-free and caries-affected children.ConclusionsThe clonal relationships of S. mutans indicated by MLST were not associated with the status of dental caries in the host.

Genetic analysis of QTLs for lysine content in four maize DH populations

BackgroundLow levels of the essential amino acid lysine in maize endosperm is considered to be a major problem regarding the nutritional quality of food and feed. Increasing the lysine content of maize is important to improve the quality of food and feed nutrition. Although the genetic basis of quality protein maize (QPM) has been studied, the further exploration of the quantitative trait loci (QTL) underlying lysine content variation still needs more attention.ResultsEight maize inbred lines with increased lysine content were used to construct four double haploid (DH) populations for identification of QTLs related to lysine content. The lysine content in the four DH populations exhibited continuous and normal distribution. A total of 12 QTLs were identified in a range of 4.42–12.66% in term of individual phenotypic variation explained (PVE) which suggested the quantitative control of lysine content in maize. Five main genes involved in maize lysine biosynthesis pathways in the QTL regions were identified in this study.ConclusionsThe information presented will allow the exploration of candidate genes regulating lysine biosynthesis pathways and be useful for marker-assisted selection and gene pyramiding in high-lysine maize breeding programs.

Transcriptome Analysis and Identification of Genes Associated with Cotton Seed Size.

Cotton seeds, as the main by-product of cotton, are not only an important raw material for edible oil and feed but also a source of biofuel. The quality of cotton seeds directly affects cotton planting and is closely related to the yield and fiber quality. However, the molecular mechanism governing cotton seed size remains largely unexplored. This study investigates the regulatory mechanisms of cotton seed size by focusing on two cotton genotypes, N10 and N12, which exhibit notable phenotypic variations across multiple environments. Developing seeds were sampled at various stages (5, 20, 30, and 35 DPA) and subjected to RNA-seq. Temporal pattern clustering and WGCNA on differentially expressed genes identified 413 candidate genes, including these related to sugar metabolism that were significantly enriched in transcriptional regulation. A genetic transformation experiment indicated that the overexpression of the GhUXS5 gene encoding UDP-glucuronate decarboxylase 5 significantly increased seed size, suggesting an important role of GhUXS5 in regulating cotton seed size. This discovery provides crucial insights into the molecular mechanisms controlling cotton seed size, helping to unravel the complex regulatory network and offering new strategies and targets for cotton breeding to enhance the economic value of cotton seeds and overall cotton yield.

Sex-Specific Imaging Biomarkers for Parkinson's Disease Diagnosis: A Machine Learning Analysis.

This study aimed to identify sex-specific imaging biomarkers for Parkinson's disease (PD) based on multiple MRI morphological features by using machine learning methods. Participants were categorized into female and male subgroups, and various structural morphological features were extracted. An ensemble Lasso (EnLasso) method was employed to identify a stable optimal feature subset for each sex-based subgroup. Eight typical classifiers were adopted to construct classification models for PD and HC, respectively, to validate whether models specific to sex subgroups could bolster the precision of PD identification. Finally, statistical analysis and correlation tests were carried out on significant brain region features to identify potential sex-specific imaging biomarkers. The best model (MLP) based on the female subgroup and male subgroup achieved average classification accuracy of 92.83% and 92.11%, respectively, which were better than that of the model based on the overall samples (86.88%) and the overall model incorporating gender factor (87.52%). In addition, the most discriminative feature of PD among males was the lh 6r (FD), but among females, it was the lh PreS (GI). The findings indicate that the sex-specific PD diagnosis model yields a significantly higher classification performance compared to previous models that included all participants. Additionally, the male subgroup exhibited a greater number of brain region changes than the female subgroup, suggesting sex-specific differences in PD risk markers. This study underscore the importance of stratifying data by sex and offer insights into sex-specific variations in PD phenotypes, which could aid in the development of precise and personalized diagnostic approaches in the early stages of the disease.