Gene最新文献

Musculoskeletal injuries and interindividual variability in recovery remain critical challenges for sustaining elite athletic performance. Despite advances in diagnostics, training, and rehabilitation, unexplained differences in injury risk and recovery efficiency persist. Growing evidence implicates genetic and epigenetic mechanisms in these disparities, influencing collagen integrity, inflammatory regulation, oxidative stress, and muscle regeneration. Key contributors include single-nucleotide polymorphisms (SNPs) in COL1A1, COL5A1, ACTN3, and IL6, as well as novel loci identified by genome-wide association studies (GWAS). Polygenic risk scores (PRS), which integrate the effects of multiple low-impact variants, enhance prediction compared to single-gene markers. Epigenetic regulators, including DNA methylation and exercise-responsive microRNAs (e.g., miR-206, miR-133a, miR-486), provide a dynamic interface linking genetic predisposition with environmental factors such as training load and nutrition. Integration of genomic data with wearable technologies and artificial intelligence enables real-time monitoring, adaptive recovery, and precision load management. Yet, clinical translation faces challenges including limited population diversity, interpretative complexity, and ethical concerns over data privacy and potential misuse. Advancing precision sports medicine will require multidisciplinary, systems-level strategies that unite molecular insights with practical implementation, ultimately enabling individualized injury prevention, optimized rehabilitation, and the preservation of long-term athlete health and performance.

Fusarium oxysporum f. sp. cubense (Foc), the causal agent of banana Fusarium wilt, is one of the most destructive plant pathogens worldwide. However, the molecular mechanisms that integrate fungal growth, metabolism, and virulence remain poorly understood. This study identifies and functionally characterizes FoSrk1, a serine/arginine-rich protein kinase (SRPK), in Foc. Deletion of FoSrk1 markedly impaired vegetative growth, reduced aerial mycelium formation and conidiation, and significantly attenuated virulence toward banana plantlets. The mutant also exhibited compromised utilization of diverse carbon sources, accompanied by altered expression of 32 genes involved in carbon metabolism. Complementation with the wild-type FoSrk1 allele restored normal growth and pathogenicity, confirming the gene's essential role. Transcriptomic analyses revealed that loss of FoSrk1 altered the expression of 2,500 genes and was associated with changes in 37 alternative splicing events, predominantly intron retention, affecting transcripts linked to protein metabolism, ribosome biogenesis, and redox processes. Moreover, several virulenceassociated genes encoding ABC transporters, cytochrome P450 enzymes, and hydrophobins were downregulated in the FoSrk1-deficient strain. These findings suggest that FoSrk1 acts as an important regulator that couples RNA processing with metabolic and pathogenic pathways and is required for normal fungal development and virulence. This study provides new insight into the molecular basis of pathogenic adaptation and identifies FoSrk1 as a potential target for antifungal intervention strategies.

Entomopathogenic bacteria express virulence genes in a temperature-dependent manner, but the underlying molecular mechanisms remain poorly understood. Here, we describe the roles of an unusual LytTR-containing transcription factor Yen6 in determining the virulence of Yersinia entomophaga (MH96). An initial transcriptome analysis in vivo revealed that yen6, located 1,372 bp upstream from genes encoding the Yen Toxin complex (Yen-Tc), exhibited significantly higher transcriptional activity at 37 °C compared to 25 °C (adjusted p-value < 0.001) during intrahemocoelic infection in the insect model Galleria‍ mellonella. Deletion of yen6 also significantly reduced MH96's virulence in G.‍‍ mellonella by up to three-fold. Next, comparing the transcriptome of wild-type MH96 and its derived Δyen6 mutant revealed genes for ribose utilization were downregulated whereas genes for fructose utilization and the RNA-binding protein YhbY were upregulated in the yen6-deficient mutant. Subsequent electromobility shift assays showed that purified Yen6_His6 protein was capable of specifically binding to the promoter regions of the ribose and fructose utilization-related gene clusters, as well as yhbY. A 645-nucleotide-long 3' untranslated region, designated yen7_AS, was identified extending from the yen6 coding region. Notably, yen7_AS completely overlaps the yen7 gene on the opposing strand and may therefore act as a cis anti-sense RNA regulating yen7 expression, which encodes a putative transcriptional regulator of the Yen-Tc. This study highlights the critical role of the yen6-yen7 locus in MH96 virulence during G.‍ mellonella infection, including the complex mechanisms controlling insecticidal exoprotein production.

Korean indigenous goats are maintained as purebred lineages in geographically isolated populations such as Dangjin, Gyeongsang National University (GNU), Jangsu, and Tongyeong. However, their small population size and high rates of inbreeding have raised concerns regarding the preservation of genetic diversity. We generated SNP genotypes for 217 Korean indigenous goats using the GoatSNP50 BeadChip, and standardized body size measurements with complete metadata were available for 64 adult individuals. Principal component analysis (PCA) clearly separated the four lineages, with the GNU population showing particularly high values of inbreeding coefficient and proportion of runs of homozygosity, reflecting the impact of recent closed breeding. Genome-wide patterns of haplotype sharing revealed exploratory trends suggesting that introgression from global breeds tended to coincide with larger body size, whereas intensified inbreeding within the Korean population showed a general tendency toward reduced body size. Furthermore, cross-population extended haplotype homozygosity (XP-EHH) analysis revealed candidate genes, including ADGRL3, SP8, and ARL6IP5, that are likely involved in adaptation to seasonal environmental stress. Our findings highlight the global connectivity, functional relevance of body conformation traits, and selective signatures of Korean indigenous goats, providing a genomic foundation for preserving diversity and guiding future breeding.

Phosphoenolpyruvate carboxylase (PEPC) is a bicarbonate fixation enzyme that is associated with nitrogen metabolism. We previously observed that NO₃^- affected the expression levels of PEPC genes differently in detached wheat leaves. Three types of PEPC isogenes, including the orthologous isogene group (Tappc1b) for C₄-photosynthetic PEPC, exhibited distinct transcriptionally up-regulated patterns from one another. However, it remains unclear which nitrogen compounds exactly trigger the gene expression responses and their light dependency. Here, we investigated the cause of isogene-specific expression responses of PEPCs to different forms of nitrogen supplementation. Detached leaves from wheat seedlings cultivated under a nitrogen-deficient condition were incubated with NO₃^-, NH₄⁺, and urea under both light and dark conditions. Notably, the genes analyzed exhibited markedly different expression patterns across the nitrogen forms under the light condition. Tappc1a, which did non-respond to NO₃^-, was up-regulated by NH₄⁺ exclusively under light. Tappc2 was also up-regulated by NO₃^- and NH₄⁺ only under light, and these up-regulations were suppressed under the dark condition. The candidate transcriptional regulator DOF1 for Tappc1b in wheat was also up-regulated by NO₃^- only under light condition, but earlier than Tappc1b, implicating a DOF1-mediated transcriptional response of Tappc1b to NO₃^-. Comparison of Tappc1b promoter sequences with that of NO₃^--responsive maize C₄PEPC revealed conserved light-responsive elements near the Dof1 binding site. These findings suggest that distinct transcriptional regulatory cascades would exist for non-photosynthetic PEPCs in response to different inorganic nitrogen forms.

Globoid cell leukodystrophy (GLD) is an autosomal recessive lysosomal storage disorder caused by mutations in the β-galactosylceramidase(GALC) gene, resulting in enzyme deficiency and the progressive accumulation of galactosylsphingosine and galactosylceramide in the white matter of the central nervous system and in peripheral nerves, which in turn triggers demyelination. Although no curative therapy is currently available, studies in animal models in recent years have shown that gene therapy can ameliorate pathological and biochemical abnormalities and holds considerable promise for clinical translation. This article reviews advances in gene therapy in animal models of GLD and discusses key directions and challenges for future treatments.