Journal of Genetics and Genomics最新文献

Rice productivity arises from an interdependent system: optimal nitrogen utilization enables efficient light signaling, photosynthetic energy capture, and carbon fixation (ultimately yielding carbohydrates), while these processes are fine-tuned by the nitrogen status they regulate, collectively optimizing growth and yield. Light signaling, mediated by photoreceptors, converts environmental cues into transcriptional reprogramming that elicits specific cellular responses. Concurrently, photosynthesis converts light into chemical energy and sugar signals that orchestrate plant growth and development. Nitrogen serves not only as a fundamental building block for all core biomolecules but also as a master regulatory signal, ultimately determining crop yield by governing both the physical structure and developmental programs of plants. The synergistic coordination of light, carbon, and nitrogen metabolism thus underlies crop productivity by regulating carbon-nitrogen balance and associated physiological processes. This review summarizes the dual role of light as both a signal and an energy source, and its integration with sugar and nitrogen metabolism across multiple biological levels to shape yield traits in rice. We further analyze how key transcription factor networks function as central hubs, integrating light, carbon, and nitrogen pathways to enhance photosynthetic capacity, nitrogen assimilation, and reproductive development, providing strategic insights for breeding high-yielding rice varieties with superior resource-use efficiency.

Muscle growth and development are fundamental biological processes with significant implications for both human health and livestock production. Although circular RNAs (circRNAs) have long been regarded as noncoding RNAs, recent studies suggest that some circRNAs possess protein-coding potential. However, the biological roles and mechanisms of circRNA-encoded proteins remain poorly understood. Here, we identify circARHGAP10 as a protein-coding circRNA in cattle skeletal muscle that encodes a 202-amino acid protein, ARHGAP10-202aa, through an internal ribosome entry site (IRES)-dependent mechanism. ARHGAP10-202aa expression is confirmed by in vitro translation, immunodetection with a specific antibody, and Western blotting analysis. Functional assays reveal that ARHGAP10-202aa interacts with myosin light chain 6 (MYL6) to promote myoblast differentiation. Moreover, in vivo overexpression of ARHGAP10-202aa significantly enhances MYL6 expression and accelerates the regeneration of injured tibialis anterior muscle in mice. These findings not only expand our understanding of the role of circRNAs in muscle biology but also underscore the functional significance of circRNA-encoded proteins in muscle recovery and regeneration.

Autophagy is a highly conserved intracellular recycling process in eukaryotes that delivers cellular components to the lysosome or vacuole for degradation, thereby maintaining intracellular homeostasis. Acting as a quality control system, autophagy plays a pivotal role in plant growth, development, and adaptation to environmental challenges. The regulation of autophagy under stress conditions involves multi-layered mechanisms, including transcriptional, epigenetic, and post-translational controls. Transcription factors from families such as WRKY, NO APICAL MERISTEM/ARABIDOPSIS TRANSCRIPTION ACTIVATION FACTOR/CUP-SHAPED COTYLEDON (NAC), and basic leucine zipper (bZIP) directly bind to the promoters of autophagy-related (ATG) genes, thereby integrating stress-responsive signal pathways to orchestrate autophagic activity dynamically. Epigenetic modifications, including histone modifications, DNA methylation, N⁶-methyladenosine (m⁶A) methylation, and microRNA-mediated silencing, further fine-tune ATG genes expression in response to changing environments. At the post-translational level, modifications such as phosphorylation, ubiquitination, acetylation, persulfidation, and S-nitrosylation, serve as rapid regulatory switches that modulate autophagosome formation under stress. This review summarizes recent advances in elucidating these regulatory layers, highlighting how these regulators collectively modulate autophagy to improve plant tolerance to environment cues. Unraveling these mechanisms will expand our understanding of the autophagy regulatory network in plants and provide potential strategies for improving stress tolerance in crops.

Lipids function as central regulators of cellular and systemic physiology through their roles in energy storage, membrane architecture, signaling, and nutrient transport. Maintaining lipid metabolic balance is essential, as its disruption underlies a broad spectrum of metabolic and metabolic-related disorders, including fatty liver disease, obesity, cardiovascular disease, neurodegeneration, and infections. Recent studies have uncovered roles for phospholipids, sphingolipids, lipid-related metabolites, and lipoproteins as metabolic modulators in regulating disease development or mediating inter-organ communication. In this review, we summarize emerging insights into lipid metabolism and metabolite function, with an emphasis on their contribution to the pathogenesis of diseases. We further highlight how these discoveries reshape our understanding of lipid biology and open new avenues for therapeutic intervention.

Multiple genes encoding v-ATPase subunits are associated with various forms of syndromic hearing loss. Their functions in hair cells, the key sensory cells required for hearing and balance, remain unclear. In this study, linkage analysis and exome sequencing of a large autosomal dominant family with non-syndromic deafness identify a pathogenic p.R281P variant in ATP6V1C1 that encodes the C1 subunit of the v-ATPase. Conditional knock-out (CKO) of Atp6v1c1 in mouse hair cells results in early-onset sensorineural hearing loss and vestibular malfunction. The CKO mice show synaptic defects in inner hair cells, evidenced by decreased wave I amplitude and prolonged latency of the auditory brainstem responses, loss of inner hair cell ribbon synapses, accumulation of endocytic compartments, and absence of F-actin mesh network surrounding the active zones. The cochlear and vestibular hair cells of the CKO mice also undergo disrupted autophagic flux and apoptosis. The Atp6v1c1 p.R281P knock-in mice develop late-onset, high-frequency hearing loss with normal hair cell morphology but degenerated spiral ganglion neurons due to disrupted autophagic flux and apoptosis. Our study reveals ATP6V1C1 as a causative gene for non-syndromic deafness and its important roles in maintenance and synaptic function of hair cells.

Yunnan Province has long served as a key nexus facilitating economic and cultural exchanges between East Asia, Southeast Asia, and Qinghai-Tibet Plateau. However, previous genetic studies were largely limited by sparse marker density, low sequencing depth, or single-population designs, leaving the population genetic structure and demographic history insufficiently resolved. Here, we conduct a high-resolution population genetic study based on 366 high-depth whole-genome sequencing samples from six ethnic groups, including Bai, Dai, Hani, Miao, Tibetan, and Han. We identify approximately 3.51 million novel variants and reveal fine-scale population structure and complex demographic histories among Yunnan ethnic groups. Beyond the three ancestries proposed by the tri-genealogy hypothesis, we detect a Han Chinese-related lineage, Yan-Huang, within multiple Yunnan populations. We further demonstrate that Yunnan represents a major gene-flow hotspot across East and Southeast Asia despite geographic barriers. Finally, we identify genomic loci under positive selection with candidate genes enriched in immune regulation, energy metabolism, cardiac development, and dietary adaptation, highlighting the role of local environmental pressures in shaping the genetic diversity of Yunnan populations.

The 13th-century Changzhou Mummy, from the Lower Yangtze region in China, is the earliest known East Asian case of an artificially mummified body employing mercury and cinnabar enema without evisceration. This study conducts multidisciplinary research, integrating paleo-radiological, paleo-pathological, paleo-genetic, and paleo-nutritional analysis to investigate the phenotype, genotype, individual life history, and the process of deliberate mummification performed on this individual. We generate a whole genome with 12.7× coverage, revealing potential genetic predisposition for several atherosclerotic cardiovascular diseases (ASCVD). Stable C and N isotope analysis of bones, teeth and hairs indicates high animal protein consumption as well as terminal illness. Hereditary and dietary risk factors are consistent with the diagnosis of atherosclerosis determined via postmortem examination. Our study, leveraging high-quality ancient DNA, provides a unique opportunity to challenge and rethink the widely accepted consensus on the relationship between atherosclerosis and post-industrial age lifestyles, uncovering unrecognized genetic polymorphisms of ASCVD among ancient individuals, and improving our understanding of the role of genetic factors in the development and evolution of ASCVD.

Mammalian oocyte maturation relies on the precise assembly of the acentrosomal spindle, and its disruption causes aneuploidy and developmental failure. Symplekin (SYMPK), a 3'-end processing scaffold with emerging functions in regulating chromosome dynamics, remains unexplored in oocytes. Here, we investigate whether SYMPK governs spindle dynamics and chromosome fidelity during meiotic maturation. We find SYMPK dynamically tracks spindle microtubules during oocyte maturation following germinal vesicle breakdown (GVBD). By generating oocyte-specific Sympk knockout mice, loss of SYMPK in oocytes yields complete female infertility and impaired oocyte quality. Sympk-deficient oocytes show a predominant metaphase I (MI) arrest, accompanied by disorganized spindle architecture and destabilized kinetochore-microtubule attachments. Furthermore, chromosome spreads indicate persistent spindle assembly checkpoint (SAC) activation, and pharmacologic SAC inhibition can partially restore meiotic progression but not spindle integrity in SYMPK-deficient oocytes. Mechanistically, immunoprecipitation-mass spectrometry in MI oocytes reveals that SYMPK interacts with the spindle regulators KIF20A and NUMA1, and is required for their proper localization to the spindle. Collectively, these findings establish that SYMPK supports KIF20A and NUMA1 to coordinate acentrosomal spindle organization, thereby safeguarding oocyte meiotic maturation and ensuring faithful female meiotic progression.

Potassium channels regulate diverse biological processes, ranging from cell proliferation to immune responses. However, the functions of potassium homeostasis and its regulatory mechanisms in adult stem cells and tumors remain poorly characterized. Here, we identify Sandman (Sand), a two-pore-domain potassium channel in Drosophilamelanogaster, as an essential regulator for the proliferation of intestinal stem cells and malignant tumors, while dispensable for the normal development processes. Mechanistically, loss of sand elevates intracellular K⁺ concentration, leading to growth inhibition. This phenotype is rescued by pharmacological reduction of intracellular K⁺ levels using the K⁺ ionophore. Conversely, overexpression of sand triggers stem cell death in most regions of the midgut, inhibits tumor growth, and induces a Notch loss-of-function phenotype in the posterior midgut. These effects are mediated predominantly via the induction of endoplasmic reticulum (ER) stress, as demonstrated by the complete rescue of phenotypes through the co-expression of Ire1 or Xbp1s. Additionally, human homologues of Sand demonstrated similar ER stress-inducing capabilities, suggesting an evolutionarily conserved relationship between this channel and ER stress. Together, our findings identify Sand as a shared regulatory node that governs Drosophila adult stem cell dynamics and tumorigenesis through bioelectric homeostasis, and reveal a link between the two-pore potassium channel and ER stress signaling.