Search Results (1,873)

Purpose: Gibberellins (GAs) are key phytohormones that regulate plant growth, development, and responses to environmental stress, and their metabolism is mediated by 2-oxoglutarate-dependent dioxygenases (2OGDs). Cotton (Gossypium spp.) is a polyploid crop with a complex genome; however, the evolutionary characteristics and stress-responsive regulation of GA-related 2OGDs remain poorly understood. This study aimed to systematically investigate the evolution, expression patterns, and stress-associated regulation of the cotton 2OGD multigene family, with particular emphasis on GA-related members. Methods: 2OGD genes were identified genome-wide in four Gossypium species and Arabidopsis thaliana. Phylogenetic relationships, gene structures, conserved motifs, cis-acting regulatory elements, and synteny were analyzed. Transcriptomic data from multiple tissues and developmental stages, together with time-course RNA-seq under salt stress, were examined. Transcriptome–metabolome association analysis, endogenous GA quantification, and predicted protein–protein interaction analysis were conducted. Results: A total of 583 2OGD genes were identified and classified into three major classes, including a Class C group comprising GA2ox, GA3ox, and GA20ox genes. Polyploidization-associated duplication contributed to the expansion of the 2OGD family, and most duplicated gene pairs exhibited signatures of purifying selection. GA-related 2OGDs displayed conserved motif compositions with variation in cis-acting elements. Promoter analysis identified abundant hormone-responsive, stress-responsive, and growth-related cis-elements, suggesting complex regulatory control of GA-related 2OGDs in cotton. Under salt stress, GhGA2OX1 and GhGA20OX2 were upregulated, whereas GhGA3OX1 was downregulated, accompanied by reduced endogenous GA levels. Conclusions: GA-related 2OGDs in cotton are transcriptionally responsive to salt stress and are associated with changes in GA metabolism, providing a basis for future functional studies. Full article

Calmodulin-like proteins (CMLs) are key mediators of plant calcium signaling and participate in abiotic stress responses, but their functions in potato remain poorly understood. Here, we systematically identified 62 StCML genes in potato via genome-wide analysis, which were phylogenetically clustered into seven clades and unevenly distributed across 12 chromosomes. Synteny analysis indicated that tandem and segmental duplications drove StCML family expansion, while promoter cis-element analysis suggested their involvement in phytohormone signaling and stress responses. Transcriptomic data showed StCMLs exhibited tissue-specific expression (high in roots, flowers, stamens) and were transcriptionally induced by drought, salt, and abscisic acid (ABA). Heterologous overexpression of StCML50 in Arabidopsis enhanced drought tolerance, as evidenced by improved germination, root elongation, and survival compared to wild-type. Physiologically, StCML50 overexpression increased proline accumulation, boosted antioxidant enzyme (SOD, CAT, POD) activities, and reduced malondialdehyde (MDA) levels under drought. Additionally, transgenic lines showed increased ABA sensitivity. This study provides insights into the potato CML gene family’s evolution and regulatory mechanisms, offering a valuable genetic resource for potato stress tolerance improvement. Full article

Glioblastoma (GBM) shows extensive epigenetic heterogeneity. In IDH-wildtype (IDH-WT) GBM, promoter DNA methylation may regulate lineage programs influencing tumor evolution and prognosis; here, we systematically profiled promoter-level methylation dynamics across longitudinal tumors. Genome-wide DNA methylation data were obtained from the publicly available Gene Expression Omnibus (GEO; GSE279073) dataset, comprising a longitudinal cohort of 226 IDH-wildtype glioblastomas profiled on the Illumina Infinium EPIC 850K array across primary and recurrent stages at the University of California, San Francisco. From 333 Gene Ontology gliogenesis-annotated genes (GO:0042063), a 48-gene promoter panel was derived, with ≥2 probes per gene. Promoter methylation was summarized as the median β-value and tested using one-sample Wilcoxon with FDR correction. Functional enrichment, longitudinal variation, and patient-level methylation burden were assessed. Validation analyses were performed using independent IDH-wildtype GBM datasets from The Cancer Genome Atlas (RNA-seq and 450K methylation; n = 347). Promoter hypomethylation predominated across all stages, with 25 genes consistently hypomethylated and 7 hypermethylated. Functional enrichment highlighted gliogenesis, glial cell differentiation, neurogenesis, and Notch-related signaling. In TCGA, promoter methylation inversely correlated with expression for 11 of 33 genes (FDR < 0.05). An Expression Score contrasting hypomethylated and hypermethylated genes was positively associated with improved overall survival, where higher scores predicted better outcome (HR = 0.87, p = 0.016; Q4 vs. Q1 HR = 0.68, p = 0.025), and a complementary Methylation Score showed that higher promoter hypermethylation predicted poorer outcome (HR = 1.73, p < 0.001). CNTN2 and TSPAN2 were adverse prognostic genes (FDR < 0.05). The Expression Score was highest in Proneural tumors and lowest in Mesenchymal tumors (p < 0.001), reflecting a proneural-like state associated with better prognosis. Promoter methylation within gliogenesis genes defines a stable yet prognostically informative epigenetic signature in IDH-WT GBM. Hypomethylation promotes transcriptional activation and a favorable outcome, whereas hypermethylation represses lineage programs and predicts poorer survival. Full article

Squamosa promoter binding protein (SBP) plays a vital role in plant growth, development, and responses to abiotic stresses. The genus Notopterygium is an endangered perennial herbaceous plant mainly distributed in the high-altitude Qinghai–Tibet Plateau and adjacent areas, which possibly occurred the adaptive evolution to the extreme environmental conditions. In this study, we firstly determined the genome-wide structural characteristics, evolutionary history, and expression profiles of the SBP family genes in Notopterygium species by using genome, transcriptome, and DNA resequencing data. We have also investigated the response patterns of SBPs of N. franchetii to the drought and high-temperature stresses. The 21, 18, and 18 SBP family genes of three Notopterygium species, N. incisum, N. franchetii, and N. forrestii, were, respectively, identified and classified into eight subfamilies, with four subfamily members regulated by miR156. The structure analysis showed that the members of the same SBP subfamily had similar structures and conserved motif composition. Cis-element analysis suggested that those SBP genes may have been essential to the growth and environmental adaptation of Notopterygium. The expansion of the SBP gene family was mainly caused by the whole genome duplication/segmental duplication and transposable element duplication. Evolutionary analysis showed the SBP gene family experienced severe contraction events and most of the gene copies underwent purification selection. Population genetics analysis based on SBPs variations suggested that the genus Notopterygium species have obvious genetic structure and interspecific differentiation. RNA-seq and qRT-PCR experiments demonstrated that the expressions of SBPs genes in Notopterygium were not species-specific, but tissue-specific. NinSBP08 and NinSBP10/12 may have played the key roles in heat tolerance and drought resistance, respectively. These results provided novel insights into the evolutionary history of the SBP gene family in the endangered herb Notopterygium species in the high-altitude Qinghai–Tibet Plateau and adjacent areas. Full article

WRKY transcription factors play critical roles in plant growth, development, metabolism, and stress responses. In this study, we performed the first genome-wide characterization of the WRKY gene family in Bupleurum chinense, using a T2T-level assembly of the autotetraploid genome. A total of 303 BcWRKY genes were identified and found to be unevenly distributed across four subgenomes. Phylogenetic and structural analyses revealed that segmental duplications after polyploidization drove lineage-specific expansion of the family. Meta-transcriptome analysis demonstrated that BcWRKY genes exhibited tissue-specific expression patterns and dynamic responses to stress, suggesting functional diversification. Under drought, waterlogging, methyl jasmonate, and ABA treatments, the contents of saikosaponins A and D significantly increased. This increase was accompanied by transcriptional activation of multiple BcWRKY genes. Correlation analysis between ten BcWRKYs and ten saikosaponins biosynthetic associated genes (BcBASs, BcCYPs, and BcUGTs) identified BcWRKY22, BcWRKY33, and BcWRKY46 as potential regulators of saikosaponin metabolism under stress conditions. Our study provided a comprehensive framework for understanding BcWRKY gene evolution and secondary metabolic regulation in polyploid medicinal plants. It also offered candidate genes for breeding B. chinense cultivars with high saikosaponin content. Full article

Enhancer of zeste homologs inhibitory protein (EZHIP) is a eutherian-specific protein, with poorly defined developmental functions and physiological expression restricted to germ cells. Its aberrant re-expression characterizes posterior fossa ependymoma subtype A and a subset of diffuse midline gliomas with wild-type histone H3—aggressive pediatric brain tumors marked by global loss of the repressive H3 lysine 27 trimethylation (H3K27me3). Functionally analogous to the H3 lysine 27 to methionine (H3K27M) oncohistone, EZHIP inhibits Polycomb repressive complex 2 (PRC2), altering genome-wide H3K27me3 distribution and fate commitment. Unlike H3K27M, EZHIP is epigenetically silenced under physiological conditions yet inducible, suggesting context-dependent oncogenic roles. Its intrinsically disordered structure enables multifunctional interactions and biological versatility. Beyond brain tumors, EZHIP has emerged as an oncogenic driver in osteosarcoma, underscoring broader relevance across cancers. This review integrates current insights into EZHIP—from gene discovery and the mechanism of PRC2 inhibition to its emerging roles in metabolism, DNA repair, 3D chromatin regulation, and development. We outline EZHIP’s clinico-pathological significance in pediatric and adult malignancies, with an emphasis on EZHIP-driven hindbrain tumors. Finally, we discuss therapeutic opportunities, from the direct targeting of intrinsically disordered proteins to the indirect modulation of EZHIP-associated epigenetic and metabolic landscapes, highlighting implications for tumor evolution and precision oncology. Full article

Colorectal cancer (CRC) develops through evolutionary processes involving genomic alterations, epigenetic regulation, and microenvironmental interactions. While traditionally explained by the stepwise accumulation of driver mutations, contemporary evidence supports a ‘Big Bang’ model in which many early-arising clones expand simultaneously to establish extensive heterogeneity. We reviewed recent studies employing spatially resolved multi-omic sequencing of tumour glands combined with computational modelling. These approaches enable high-resolution reconstruction of clonal architecture, transcriptional states, and chromatin accessibility. Findings show that although early clonal mutations shape tumour expansion, gene expression variability can be independent of genetic ancestry and instead reflects phenotypic plasticity driven by microenvironmental cues. Epigenomic analyses identified recurrent somatic chromatin accessibility alterations in promotors and enhancers of oncogenic pathways, frequently in the absence of DNA mutations, suggesting alternative mechanisms of gene regulation. Immune-focused studies demonstrated that early silencing of antigen-presenting genes and loss of neoantigens facilitate immune escape despite active surveillance. CRC is shaped by an interplay of genome, epigenome, and immune evolution, with non-genetic mechanisms and tumour plasticity emerging as important drivers of progression and therapeutic resistance. Full article

PIN-LIKES (PILS) auxin transport genes play key roles in plant development, but their functions and molecular mechanism in soybean yield remain unclear. Here, we characterized the 44-member soybean GmPILS genes via comprehensive analyses. Phylogenetic analysis classified GmPILS into three subfamilies, with most proteins being hydrophobic, stable, and membrane-localized. Chromosomal distribution showed random scattering across 17 chromosomes, with gene duplication driving family expansion. Expression profiling identified GmPILS36 and GmPILS40 as seed-specific and differentially expressed between cultivated Suinong14 (SN14) and wild ZYD00006 (ZYD06) soybeans. Population genetic analyses revealed GmPILS40 experienced a domestication bottleneck without yield-related superior haplotypes, while GmPILS36 underwent selection during landrace-to-improved variety domestication. A coding region CC/TT natural variation in GmPILS36 (S/A substitution) was significantly associated with seed weight per plant and 100-seed weight, with the TT genotype conferring superior traits. This study provides insights into GmPILS genes’ evolution and identifies GmPILS36 as an important candidate gene for further functional study and investigation of the molecular mechanisms regulating soybean yield. Full article

As a class of glutathione-dependent oxidoreductases, glutaredoxins (GRXs) play a central role in maintaining cellular redox homeostasis, thereby influencing diverse biological processes including growth, development, and stress adaptation in plants. This study identified 36 GRX genes in Litsea cubeba through whole-genome analysis. Phylogenetic classification placed them into four subfamilies (CC-, CGFS-, CPYC-type, and a species-specific SS branch), consistent with patterns in model plants like Arabidopsis thaliana and Oryza sativa, indicating evolutionary conservation of GRX core motifs. Genomic analyses including chromosomal location, collinearity, and gene structure revealed family evolution features. Expression profiling showed 11 LcGRX genes were flower-specific, with marked differential expression during stamen (M2) and pistil (F2) degeneration, supporting their roles in sexual dimorphism. Functional assays confirmed that floral highly expressed LcGRX12 directly interacts with TGA transcription factor LcTGA10, similar to its Arabidopsis homolog ROXY1. This study reveals the GRX-TGA module’s role in floral organ development in L. cubeba, offering insights into redox-mediated sex differentiation in Lauraceae and providing candidate genes for molecular breeding. Full article

Mammalian placentation represents one of the most striking evolutionary innovations among vertebrates, and accumulating evidence indicates that virus-derived genes—particularly the metavirus-derived PEG10 and PEG11/RTL1—have played indispensable but distinct roles: PEG10 in the emergence of therian viviparity and PEG11/RTL1 in the subsequent differentiation between marsupial and eutherian placental types. Notably, the metavirus-derived SIRH/RTL gene group, which includes PEG10 and PEG11/RTL1, exhibits unique and diverse functions not only in placenta development but also within microglia of the brain. Because microglia originate from yolk sac progenitors, these findings suggest that extraembryonic tissues such as the placenta and yolk sac provided permissive environments that enabled the retention, expression and functional domestication of virus-derived sequences. Once the placenta itself was established through viral gene integration, it may in turn have acted as a powerful driver of eutherian evolution through recurrent acquisition and co-option of additional virus-derived genes—a process we refer to as “placenta-driven evolution.” This perspective offers a unified framework in which viral gene acquisition is viewed as a key driver of genomic innovation, tightly intertwined with the emergence of viviparity, subsequent divergence at the marsupial–eutherian split, and continued diversification of placental structure and function across eutherian lineages. Full article

The basic/helix-loop-helix (bHLH) transcription factors are crucial regulators of plant development and stress responses. In this study, we conducted a genome-wide analysis of the bHLH family in Rosa roxburghii, an economically important fruit crop. A total of 89 non-redundant RrbHLHs were identified and unevenly distributed across the seven chromosomes. Phylogenetic analysis classified them into 23 subfamilies and 7 Arabidopsis subfamilies were absent, indicating lineage-specific evolutionary trajectories. Conserved motif and gene structure analyses showed that members within the same subfamily generally shared similar architectures, yet subfamily-specific variations were evident, suggesting potential functional diversification. Notably, key residues involved in DNA-binding and dimerization were highly conserved within the bHLH domain. Promoter analysis identified multiple cis-acting elements related to hormone response, stress adaptation, and tissue-specific regulation, hinting at broad regulatory roles. Expression profiling across fruit developmental stages and in response to GA₃ treatment revealed dynamic expression patterns. Furthermore, 21 duplicated gene pairs (17 segmental and 4 tandem duplicated pairs) were identified, with most evolving under purifying selection. Detailed analysis of these pairs revealed that segmental duplication, coupled with structural variations such as exon indels, dissolution/joining, and exonization/pseudoexonization, substantially contributed to their functional divergence during evolution. Our results provide a basis for understanding the evolution and potential functions of the RrbHLHs. Full article

Hylocereus undatus growth is limited by long-term heat stress, and heat shock protein 70 (Hsp70) is crucial in the plant’s heat stress (HS) response. In a previous study, transcriptomic data revealed that Hsp70 family members in pitaya seedlings respond to temperature changes. This study identified 27 HuHsp70 genes in pitaya, analyzed their physicochemical properties (such as molecular weight and isoelectric point), and divided them into five subfamilies with conserved gene structures, motifs (short conserved sequence patterns), and cis-acting elements (regulatory DNA sequences). The Ks value (synonymous substitution rate) ranged from 0.93~3.54, and gene duplication events occurred between 71.17 and 272.19 million years ago (Mya). Under HS, eight and nine differentially expressed genes (DEGs) were detected at 24 h and 48 h, respectively. Quantitative real-time PCR (qRT-PCR, a method for measuring gene expression) verified the expression trends, with HuHsp70-11 expression increasing with heat shock duration, indicating that HuHsp70-11 is a key candidate. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses revealed that HuHsp70s, especially HuHsp70-11, play key roles in responding to high temperatures (HT) in H. undatus seedlings. A potential model by which HuHsp70-11 removes excess reactive oxygen species (ROS) and enhances cell membrane permeability was constructed. These results provide new perspectives for exploring the HS response mechanisms and adaptability of H. undatus plants to heat stress. Full article

Background/Objectives: This review integrates evolutionary, metabolic, genetic, and nutritional perspectives to explain how sterol-derived vitamin D pathways shape human physiology and inter-individual variability in vitamin D status. Methods: The literature on sterol and vitamin D metabolism across animals, plants, fungi, and algae was synthesized with data from metabolomics databases, genome-wide association studies, RNA-seq resources (including GTEx), structural biology, and functional genomics. Results: Vitamin D₂ and vitamin D₃ likely emerged early in evolution as non-enzymatic photochemical sterol derivatives and were later co-opted into a tightly regulated endocrine system in vertebrates. In humans, cytochrome P450 enzymes coordinate vitamin D activation and degradation and intersect with oxysterol production, thereby linking vitamin D signaling to cholesterol and bile acid metabolism. Tissue-specific gene expression and regulatory genetic variants, particularly in the genes DHCR7, CYP2R1, CYP27B1, and CYP27A1, contribute to population-level differences in vitamin D status and metabolic outcomes. Structural analyses reveal selective, high-affinity binding of 1,25-dihydroxyvitamin D₃ to VDR, contrasted with broader, lower-affinity ligand recognition by LXRs. Dietary patterns modulate nuclear receptor signaling through distinct yet convergent ligand sources, including cholesterol-derived oxysterols, oxidized phytosterols, and vitamin D₂ versus vitamin D₃. Conclusions: Sterol and vitamin D metabolism constitute an evolutionarily conserved, adaptable network shaped by UV exposure, enzymatic control, genetic variation, and diet. This framework explains inter-individual variability in vitamin D biology and illustrates how evolutionary and dietary modulation of sterol-derived ligands confers functional flexibility to nuclear receptor signaling in human health. Full article

Fragaria vesca L., a widely distributed model species, serves as a key resource for studying the evolution and genetics of the Fragaria genus. Research has shown that R2R3-MYB transcription factors are crucial for plant growth and development. However, their specific role in cold resistance in F. vesca is not well understood. In this study, we used the latest genome data for the strawberry (F. vesca v6.0). We performed a genome-wide identification of the R2R3-MYB gene family in F. vesca. We identified a total of 106 R2R3-FvMYBs. Based on their predicted functions in plants, we classified these genes into 25 distinct subfamilies. We then conducted a comprehensive bioinformatics analysis of this family. We performed a detailed examination of the R2R3-FvMYBs structures and physicochemical properties. This analysis provided five key parameters for each protein: molecular weight, the number of amino acids, theoretical isoelectric point, grand average of hydropathicity (GRAVY), and instability index. Gene duplication analysis suggested that segmental duplications were a primary driver of the proliferation of this gene family. Promoter cis-acting element prediction revealed that a large proportion of R2R3-FvMYBs possess elements predominantly associated with phytohormone responsiveness and biotic/abiotic stress responses. Quantitative real-time reverse transcription PCR (qRT-PCR) results confirmed that the expression levels of several R2R3-FvMYBs were upregulated under cold stress. Furthermore, compared to wild-type controls, the overexpression of FvMYB103 in Arabidopsis thaliana enhanced cold tolerance, accompanied by increases in the relevant physiological indices. Collectively, these findings support further investigation into R2R3-MYB gene family to directly assess their contribution to cold resistance. Full article

Drought and salt stresses are major abiotic factors limiting maize yield. Lignin, a key cell wall component, plays a crucial role in boosting plant stress resistance. Cinnamyl alcohol dehydrogenase (CAD) is a vital enzyme at the late stage of lignin biosynthesis; however, a systematic study of its functions in abiotic stress responses and its potential for genetic improvement in maize remains lacking. In this study, we conducted the first comprehensive, multi-dimensional analysis of the maize ZmCAD gene family, including gene identification, evolutionary relationships, protein interaction networks, and stress-responsive expression patterns. We identified 9 ZmCAD members that showed significant functional divergence in evolution, structure, and expression patterns. Expression analysis revealed complex, tissue-specific responses of ZmCAD genes to drought and salt stress, with ZmCAD6 strongly induced by drought. Importantly, through haplotype analysis of 157 waxy maize inbred lines, we successfully identified an elite haplotype (H3) of ZmCAD6 that is significantly associated with improved drought tolerance in maize. This study not only clarifies the functional differentiation mechanisms of the ZmCAD gene family but also provides the identified elite ZmCAD6-H3 haplotype as a valuable genetic resource and precise target for molecular breeding aimed at enhancing drought tolerance in maize. Full article