Search Results (270)

Sunflower is a globally important oilseed crop. Improving its fatty acid composition is crucial for enhancing oil quality and nutritional value. To dissect the genetic basis of quality traits, we performed genome resequencing on 203 sunflower inbred lines and conducted a genome-wide association study (GWAS) for five traits—oil content, stearic acid, palmitic acid, oleic acid, and linoleic acid—across three environments. We identified 103 significant single-nucleotide polymorphisms (SNPs) and 154 candidate genes. Notably, several associated loci were co-localized for multiple traits, suggesting pleiotropic effects or close genetic linkages. Integration with transcriptome data from developing seeds revealed that 66 candidate genes were expressed within 30 days after pollination, of which 12 showed significant differential expression between high- and low-oleic acid varieties. Functional characterization of a selected candidate, the ω-6 fatty acid desaturase gene (LOC110938218, designated HaDES8.11), demonstrated that the HaDES8.11-eGFP fusion protein localizes to the endoplasmic reticulum. Heterologous expression of HaDES8.11 in Arabidopsis thaliana significantly increased seed linoleic acid content while decreasing oleic acid content, confirming its role in fatty acid desaturation. Our study provides novel genetic insights and valuable candidate genes for the molecular breeding of sunflower with optimized oil quality. Full article

The genus Parabacteroides comprises widespread gastrointestinal commensals, known to produce immunomodulatory molecules and extracellular vesicles, yet its full diversity is incompletely cataloged. This study describes strain ASD2025^T, isolated from healthy child feces, using a polyphasic taxonomic approach including phenotypic profiling, chemotaxonomy, and comparative genomics. Cells were non-motile, polymorphic rods that produced extracellular vesicles. Phylogenomic analysis placed ASD2025^T within the genus Parabacteroides within a species complex consisting of P. acidifaciens, P. hominis, “P. massiliensis”, P. merdae, and P. johnsonii, with average nucleotide identities to the type strains of 85.5–89.9%. The large genome (5.16 Mbp, 46.2% GC content) contained integrative conjugative elements harboring antibiotic resistance genes and hankyphage-related prophage. The strain produced succinate as the major metabolic end product, and its major fatty acids were anteiso-C_15:0, iso-C_17:0 3-OH, and C_15:0. Conditioned medium from ASD2025^T antagonized the interleukin-8 response caused by E. coli lipopolysaccharide in HT29 cells. The majority of related metagenome-assembled genomes originate from mouse microbiomes. Based on these distinct characteristics, strain ASD2025^T (=VKM B-3926^T = JCM 37967^T) represents a novel species of the genus Parabacteroides, for which the name Parabacteroides vesiculifaciens sp. nov. is proposed. Full article

Nervonic acid (NA), an ultra-long-chain monounsaturated fatty acid, has attracted widespread attention in recent years due to its notable neuroprotective and antioxidant effects. In this study, a structured lipid was developed by enzymatically interesterifying coconut oil, palm stearin, and NA. The effects of lipase type, reaction temperature, time, and enzyme dosage on NA incorporation were investigated. The highest NA content in the structured lipid was achieved under optimized conditions: a reaction temperature of 64.6 °C, a reaction time of 7.17 h, and an enzyme dosage of 8.46%. Subsequently, a machine learning model was constructed to predict the sliding melting point. The NA-rich structured lipid, designed and prepared for use as a plastic fat, comprised 59.34% unsaturated fatty acids (46.76% NA) and exhibited β’ crystal polymorphism. This combined experimental and computational approach is a reliable strategy for preparing functional structured lipids. Full article

Background: Viburnum (Adoxaceae) is a species-rich woody genus whose taxonomy is complicated by morphological convergence and hybridization. Methods: We assembled complete plastomes of eight species representing five sections and analyzed their structural variation, sequence divergence, and molecular evolution. Results: All plastomes displayed the conserved quadripartite structure typical of angiosperms, with limited size variation attributable primarily to intergenic spacer-length polymorphisms. Sequence divergence was unevenly distributed, with single-copy regions exhibiting substantially higher nucleotide diversity than inverted repeat regions. We identified multiple hypervariable intergenic spacers such as the region trnK-UUU–rps16, suitable as molecular markers for population genetics and species identification. Selection pressure analysis revealed that while most protein-coding genes evolved under strong purifying selection, three genes involved in fatty acid biosynthesis and protein import—accD, ycf1, and ycf2—showed significantly relaxed constraints, suggesting ongoing functional divergence. Phylogenetic analysis recovered well-supported relationships consistent with previous classifications, while clarifying the positions of Viburnum amplificatum and Viburnum tinus. Conclusions: These findings provide molecular resources for Viburnum systematics and offer insights into the evolutionary dynamics of plastome genes with non-photosynthetic functions. Full article

Melanoma is a type of skin cancer with an increasing incidence rate worldwide and a high mortality rate. In addition to known risk factors, such as UV exposure and genetic predisposition, researchers are paying more attention to the role of diet, micronutrients, and vitamins in preventing melanoma. This review discusses the effects of selected vitamins (D, A, C, and E), trace elements, and bioactive compounds (polyphenols and omega-3 fatty acids) on biological processes related to melanoma development. The review considered both antioxidant and immunomodulatory effects, as well as effects on DNA repair and photoprotection. The significance of polymorphisms of genes encoding receptors and enzymes that metabolize the compounds studied was also analyzed. The results suggest that maintaining adequate levels of these substances may promote melanoma prevention, particularly among individuals at risk. However, caution in the use of supplementation is necessary due to the possible biphasic effects of some micronutrients. Further clinical trials are needed to develop effective, safe prevention strategies based on micronutrients and vitamins. Full article

Background: The intestinal microflora is a population of microorganisms that resides in the human gastrointestinal tract and is important in maintaining metabolic and immune homeostasis in the body. Bacteria residing in the intestine produce short-chain fatty acids (SCFAs), which communicate with, among other things, the brain–gut axis—disorders of which are one of the causes of MS-like pathologies. A particular property of SCFAs is the induction of regulatory T cells, which are finding their way into pioneering therapies for MS patients. The aim of the study is to evaluate SCFA secretion in patients with multiple sclerosis from the West Pomeranian region depending on the genotypes of rs778986 and rs3894326 polymorphisms of the FUT3 gene. Methods: The study group included 47 patients clinically diagnosed with MS. Genotyping was performed by real-time PCR using TaqMan probes. Analysis of short-chain fatty acids in faeces was performed on a quadrupole mass spectrometer coupled to a time-of-flight (QTOF) analyser coupled to an AB Sciex high-performance liquid chromatograph (UHPLC). Results: Statistical analysis did not reveal any statistically significant differences in the prevalence of the studied polymorphisms in MS patients compared to the healthy control group. It was observed that the intestinal microflora and SCFA production in MS patients may be disturbed, while the studied FUT3 gene polymorphisms probably do not have a significant effect on their concentrations. A statistical tendency towards higher caproic acid content in heterozygotes of the rs778986 polymorphism and higher valeric acid secretion in homozygotes of rs3894326 was demonstrated. Conclusions: In summary, the studied FUT3 gene polymorphisms are not overrepresented in patients with MS. The rs778986 FUT3 polymorphism may affect the caproic acid content in the faeces of patients with MS, and the rs3894326 polymorphism may affect valeric acid secretion. Due to the small sample size and sparse genotype groups, the study has limited power and negative findings may reflect Type II error; replication in larger cohorts is warranted. Full article

In animals and humans, nutrients influence signaling cascades, transcriptional programs, chromatin dynamics, and mitochondrial function, collectively shaping traits related to growth, immunity, reproduction, and stress resilience. This review synthesizes evidence supporting nutrient-mediated regulation of DNA methylation, histone modifications, non-coding RNAs, and mitochondrial biogenesis, and emphasizes their integration within metabolic and developmental pathways. Recent advances in epigenome-wide association studies (EWAS), single-cell multi-omics, and systems biology approaches have revealed how diet composition and timing can reprogram gene networks, sometimes across generations. Particular attention is given to central metabolic regulators (e.g., PPARs, mTOR) and to interactions among methyl donors, fatty acids, vitamins, and trace elements that maintain genomic stability and metabolic homeostasis. Nutrigenetic evidence further shows how genetic polymorphisms (SNPs) in loci such as IGF-1, MSTN, PPARs, and FASN alter nutrient responsiveness and influence traits like feed efficiency, body composition, and egg quality, information that can be exploited via marker-assisted or genomic selection. Mitochondrial DNA integrity and oxidative capacity are key determinants of feed conversion and energy efficiency, while dietary antioxidants and mitochondria-targeted nutrients help preserve bioenergetic function. The gut microbiome acts as a co-regulator of host gene expression through metabolite-mediated epigenetic effects, linking diet, microbial metabolites (e.g., SCFAs), and host genomic responses via the gut–liver axis. Emerging tools such as whole-genome and transcriptome sequencing, EWAS, integrated multi-omics, and CRISPR-based functional studies are transforming the field and enabling DNA-informed precision nutrition. Integrating genetic, epigenetic, and molecular data will enable genotype-specific feeding strategies, maternal and early-life programming, and predictive models that enhance productivity, health, and sustainability in poultry production. Translating these molecular insights into practice offers pathways to enhance animal welfare, reduce environmental impact, and shift nutrition from empirical feeding toward mechanistically informed precision approaches. Full article

Cannabis sativa L. has been cultivated for millennia as a source of food and fibre. Increasing demand for functional foods has renewed interest in C. sativa seeds (hempseeds), which are rich in essential fatty acids and amino acids. However, a near-global moratorium on C. sativa cultivation and research throughout most of the 20th century has delayed crop improvement using modern breeding approaches. As a result, genetic loci contributing to key agronomic traits, including with respect to maximizing yield as a seed crop, remain largely unknown. In this study, a feminized segregating F₂ mapping population, derived from a tall parent with spacious inflorescences and large seeds and a short-stature parent with compact inflorescences and small seeds, was phenotyped for key seed and agronomic traits related to yield. A mid-density Single Nucleotide Polymorphism (SNP) genotyping panel was used to generate a genetic linkage map of 291.5 cM with 455 SNPs. Quantitative Trait Locus (QTL) mapping identified major loci for hundred-seed weight—qHSW3, 26.59 percent variance explained (PVE), seed volume—qSV1, 33.24 PVE, and plant height—qPH9, 46.99 PVE. Our results provide novel target regions, associated molecular markers, and candidate genes for future breeding efforts to improve C. sativa. Full article

Androgen receptor (AR) signaling has a pivotal role in hepatic lipid homeostasis, as well as in core metabolic functions such as lipogenesis, fatty acid oxidation, and insulin sensitivity. Dysregulation of AR function has been demonstrated in both animal and human studies to disrupt these crucial metabolic pathways, thereby promoting hepatic steatosis. Several causes can lead to AR dysregulation, including genetic mutations or polymorphisms, epigenetic and post-transcriptional modifications, as well as various endocrine disturbances. Prompted by a diagnostically challenging case of a lean 34-year-old male with persistent ALT-predominant transaminasemia, unexplained suboptimal dyslipidemia despite adherence to drug therapy and a healthy lifestyle, and chronically elevated creatine phosphokinase levels irrespective of statin use or exercise intensity, we highlight the overlooked mechanistic link between AR dysfunction and liver–muscle disruption in lean-MASLD patients. Considering the pivotal role of AR in liver–muscle crosstalk, we emphasize the importance of evaluating AR signaling pathways through targeted genetic testing in cases of lean-MASLD among the male population, as well as addressing other extrahepatic manifestations, such as neuromuscular diseases, closely related to AR dysfunction. This clinical strategy may ultimately optimize lean-MASLD management, particularly in view of the emerging utilization of AR-targeted therapeutic modalities, and may also facilitate the management of systemic manifestations associated with altered AR signaling pathways. Full article

Carcass weight (CW) is a major determinant of beef yield and market value in Korea, yet the genetic basis of this trait remains largely unexplored in cattle from Jeju Island. In this study, we performed a genome-wide association study (GWAS) using both a mixed linear model (MLM) and the FarmCPU approach, followed by pathway and network analyses to identify loci and biological functions underlying CW variation. A total of 256 Jeju cattle (92 Jeju Black and 164 Jeju Black × Hanwoo crossbreds) were initially sampled. One crossbred sample failed genotyping, leaving 255 animals (92 Jeju Black and 163 crossbreds) for analysis. Animals were genotyped using the Illumina BovineSNP50 v3 BeadChip, and 39,055 high-quality single nucleotide polymorphisms (SNPs) were retained after quality control. The MLM analysis detected no genome-wide significant associations, whereas the FarmCPU analysis identified six significant loci on Bos taurus chromosomes 3, 5, 6, 10, and 13, each explaining 2.55–9.58% of the phenotypic variance. Candidate genes located near these loci included EIF2B3, HECTD3, SOX5, KLF6, PHACTR3, and two uncharacterized protein-coding genes. Functional enrichment analysis identified biologically relevant pathways including lysine degradation, tryptophan metabolism, glycerolipid metabolism, fatty acid biosynthesis, extracellular matrix–receptor interaction, and signaling cascades such as PI3K–Akt and Rap1, although most pathways were not statistically significant after FDR correction. Protein–protein interaction (PPI) network analysis using STRING highlighted modules of signaling, extracellular matrix, and metabolic genes. These clusters suggest that coordinated interactions among these pathways contribute to carcass growth and development. These findings provide new insights into the molecular basis of CW in Jeju Black and Hanwoo × Jeju Black crossbred cattle and identify candidate genes and pathways that may be useful for genomic selection and the sustainable improvement of Jeju Black cattle populations. Full article

Background: Polymorphisms in the FADS1 and FADS2 genes influence fatty acid metabolism. However, evidence of gene–diet interactions in population-based studies from Brazil remains limited. The objective of this study was to examine associations between FADS1–FADS2 single-nucleotide polymorphisms (SNPs) and erythrocyte fatty acid composition and serum lipid concentrations, as well as to explore potential gene–diet interactions. Methods: Data were analyzed from 294 adults (20–93 years) enrolled in the 2015 ISA-Nutrition study. Erythrocyte fatty acid composition and serum lipids were measured using standard enzymatic methods. Dietary intake was assessed by 24 h recalls, and participants were classified into tertiles according to fatty acid intake. Five SNPs were genotyped; FADS1 rs174546 and FADS2 rs174570 were prioritized based on linkage disequilibrium. Associations and interactions were assessed using generalized linear models, adjusting for confounders. Results: Carriers of the minor alleles for rs174546 and rs174570 had significantly lower erythrocyte levels of long-chain polyunsaturated fatty acids, particularly along the ω-6 pathway, suggesting reduced desaturase activity. The rs174546 TT genotype was associated with higher total, very-low-density lipoprotein cholesterol (VLDL), and non–high-density lipoprotein (non-HDL) cholesterolconcentrations. Higher dietary intakes of docosahexaenoic acid (DHA) or a higher linoleic acid to alpha-linolenic acid ratio(LA/ALA ratio) among these carriers were linked to lower serum lipid levels, indicating gene–diet interactions that attenuate adverse genotype effects. In addition, rs174570 TT carriers showed elevated VLDL concentrations, with a significant dietary interaction observed with the LA/ALA ratio. Conclusions: FADS1 and FADS2 polymorphisms influence fatty acid metabolism and interact with diet to shape lipid profiles. These findings highlight the importance of considering gene-diet interactions in cardiometabolic risk. Full article

Docosahexaenoic acid (DHA), an omega-3 polyunsaturated fatty acid essential for human health, is primarily produced at scale using Schizochytrium sp. Mutagenesis-based strain improvement has increased DHA yields, but the genetic and metabolic mechanisms underlying high productivity remain poorly understood. Here, we conducted the comparative whole-genome sequencing and transcriptomic profiling of a high-DHA-yielding mutant strain (HS01) and its parental strain (GS00). The GS00 genome assembly spans 62.4 Mb and encodes 14,886 predicted genes. Functional annotation highlighted pathways involved in central metabolism, saturated fatty acid (SFA) synthesis, and polyunsaturated fatty acid (PUFA)/DHA biosynthesis. Comparative genomics identified 40 insertions/deletions and 396 single-nucleotide polymorphisms between HS01 and GS00, including mutations in the coding and regulatory regions of key metabolic genes. Transcriptomic analysis revealed extensive metabolic reprogramming in HS01, including the upregulation of glycolysis and tricarboxylic acid (TCA) cycle genes, along with a distinct fatty acid profile and the altered expression of fatty acid metabolism genes compared with GS00. Collectively, the integrated genomic and transcriptomic analyses not only pinpointed specific mutations potentially associated with the HS01 high-DHA phenotype but also revealed substantial transcriptional and metabolic remodeling, providing valuable insights into the mechanisms that drive enhanced DHA biosynthesis. Full article

The aim of the study to evaluate relationship between breed, GH and CAST genotypes, and FA composition in the ovine intramuscular fat of musculusSemimembranosus. To fulfil this aim, 175 blood samples were drawn by jugular vein puncture from Lithuanian Black-Headed (N43), Lithuanian Black-Headed *Ile de France (N43), Lithuanian Black-Headed *Suffolk (N44), and Lithuanian Black-Headed *Texel (N45) lambs. The lambs were weighed weekly, and the growth rate was calculated using birth weight and month weight values. Genomic DNA was extracted from blood samples taken into EDTA containing tubes, using a “GeneJET Genomic DNA Purification Kit” (Thermo Scientific, Waltham, MA, USA). The method of polymerase chain reaction and restriction length polymorphism were used to genotype growth hormone (GH) and (CAST) gene polymorphisms. Meat samples of four lamb breeds were taken for analysis (200–250 g from musculusSemimembranosus were taken 48 h after carcass meat cooling). The fatty acid methyl esters (FAMEs) were analyzed using a gas chromatography mass spectrometry (GC/MS) instrumental technique. All data were evaluated statistically. Studies have shown that purebred Lithuanian Black-Headed lambs are born with a higher weight, so it is not advisable to mix them with Ile de France, Suffolk, or Texel breeds. Also, our research shows that the most beneficial breed are lambs that have the BB genotype of the GH gene and the MN genotype of the CAST gene, as these lambs are born with the greatest weight and gain. The meat of Lithuanian Black-Headed lambs showed the lowest content of SFA and the largest content of PUFA. The ratio ω-6/ω-3 FA varied from 2.71 (Lithuanian Black-Headed * Suffolk) to 4.52 (Lithuanian Black-Headed). Based on the research, it can be concluded that the purebred Lithuanian Black-Headed lambs had higher birth weight, therefore it is not appropriate to mix them with Ile de France, Suffolk, or Texel breeds. Full article

Usp21, a member of the ubiquitin protease family, plays a vital role in various biological functions. However, the effects of Usp21 dysfunction remain incompletely understood. In this study, we generated Usp21 knockout (KO) mice. Blood tests showed no impairment of liver function but did reveal elevated levels of total cholesterol (T-CHOL) and free fatty acid (FFA) in Usp21 KO mice compared to wild-type (WT) mice. Next, we performed RNA-sequencing (RNA-seq) to identify genes that Usp21 regulates. The results highlighted several candidate genes based on their biological relevance, and their expression levels were validated by RT-qPCR. The Usp21 KO mice exhibited significant elevations in the expression of the genes Fabp7, Nlrc5, and Ppargc1a, which play an important role in lipid metabolism, compared to WT. These data suggest that Usp21 may play roles in lipid metabolism in association with Fabp7, Nlrc5 and Ppargc1a. To clarify the involvement of USP21 in human hypercholesterolemia, we examined single-nucleotide polymorphisms (SNPs) around USP21 in non-hypercholesterolemic and hypercholesterolemic outpatients. We found that the rs11421 SNP downstream of USP21 was significantly associated with hypercholesterolemia. These data suggest that Usp21 plays a role in mice and human lipid metabolism and that its polymorphism may be a diagnostic marker for human hypercholesterolemia. Full article

Malaria persists as a paradigmatic model of co-evolutionary complexity, emerging from the dynamic interplay among a human host, Anopheles vectors, and Plasmodium falciparum parasites. In human populations, centuries of selective pressures have sculpted an intricate and heterogeneous immunogenetic landscape. Classical adaptations, such as hemoglobinopathies, are complemented by a diverse array of genetic polymorphisms that modulate innate and adaptive immune responses. These genetic traits, along with the acquisition of functional immunity following repeated exposures, mitigate disease severity but are continually challenged by the parasite’s highly evolved mechanisms of antigenic variation and immunomodulation. Such host adaptations underscore an evolutionary arms race that perpetually shapes the clinical and epidemiological outcomes. Intermediaries in malaria transmission have evolved robust responses to both natural and anthropogenic pressures. Their vector competence is governed by complex polygenic traits that affect physiological barriers and immune responses during parasite development. Recent studies reveal that these mosquitoes exhibit rapid behavioral and biochemical adaptations, including shifts in host-seeking behavior and the evolution of insecticide resistance. Mechanisms such as enhanced metabolic detoxification and target site insensitivity have emerged in response to the widespread use of insecticides, thereby eroding the efficacy of conventional interventions like insecticide-treated bed nets and indoor residual spraying. These adaptations not only sustain transmission dynamics in intervention saturated landscapes but also challenge current vector control paradigms, necessitating the development of innovative, integrated management strategies. At the molecular level, P. falciparum exemplifies evolutionary ingenuity through extensive genomic streamlining and metabolic reconfiguration. Its compact genome, a result of strategic gene loss and pruning, is optimized for an obligate parasitic lifestyle. The repurposing of the apicoplast for critical anabolic functions including fatty acid, isoprenoid, and haem biosynthesis highlights the parasite’s ability to exploit host derived nutrients efficiently. Moreover, the rapid accumulation of mutations, coupled with an elaborate repertoire for antigenic switching and epigenetic regulation, not only facilitates immune escape but also accelerates the emergence of antimalarial drug resistance. Advanced high throughput sequencing and functional genomics have begun to elucidate the metabolic epigenetic nexus that governs virulence gene expression and antigenic diversity in P. falciparum. By integrating insights from molecular biology, genomics, and evolutionary ecology, this study delineates the multifaceted co-adaptive dynamics that render malaria a recalcitrant global health threat. Our findings provide critical insights into the molecular arms race at the heart of host–pathogen vector interactions and underscore promising avenues for the development of next generation therapeutic and vector management strategies aimed at sustainable malaria elimination. Full article