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Unifying multimodal single-cell data with a mixture-of-experts β-variational autoencoder framework.

Multimodal single-cell assays profile complementary layers of cell state, but integration is complicated by modality mismatch, sparsity, and uneven cohort coverage. Here, we present Unified Variational Inference (UniVI), a scalable mixture-of-experts β-variational autoencoder that learns a shared latent space while preserving modality-specific structure. UniVI couples modality-specific encoders/decoders with a shared latent prior and a symmetric cross-modal alignment objective, enabling consistent integration of paired measurements without curated feature-link graphs or preannotated reference atlases; optional supervised heads can be added when labels are available. Across paired RNA-protein (CITE-seq) and RNA-chromatin (10x Genomics Multiome, SHARE-seq) data spanning human PBMCs and mouse back skin-a nonhematopoietic tissue with continuous differentiation hierarchies-UniVI produces coherent embeddings, improves label transfer, and enables cross-modal reconstruction and denoising. Extending to trimodal measurements, UniVI maintains robust three-way alignment among RNA, chromatin accessibility, and surface proteins (TEA-seq), and accommodates DNA methylation in a paired scNMT-seq mouse gastrulation proof-of-concept under beta-binomial likelihoods. Performance degrades gracefully under severe cell type imbalance and in the presence of modality-exclusive populations. In an acute myeloid leukemia mosaic design, a paired RNA-protein bridge anchors independent RNA-only and protein+genotype cohorts, revealing genotype-associated neighborhoods that sharpen with mutation-aware fine-tuning. UniVI thus provides a flexible, interpretable framework for multimodal integration across paired, trimodal, and mosaic study designs and supports practical reference-to-query projection in partially observed studies.

Journal Article↗

Combined effects of Ret coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous system.

Hirschsprung disease (HSCR) is a congenital enteric neuropathy caused by disrupted development of enteric neural crest-derived cells (ENCDCs). Although pathogenic coding variants in RET account for many cases, the largest genetic contribution to HSCR risk arises from a common noncoding variant (rs2435357) within a SOX10-bound RET enhancer (MCS+9.7) that reduces RET gene expression in vivo and triggers expression changes in other ENS genes in the human fetal gut. However, the ENS cell types affected by this enhancer and the mechanisms by which these transcriptional changes lead to HSCR remain unknown. Here, we investigated the role of this enhancer by generating mice carrying a deletion of the orthologous Ret mcs+9.7 enhancer (Δmcs+9.7). Single-cell RNA sequencing of E14.5 embryonic gut demonstrated that enhancer deletion reduced Ret expression by 8% without altering ENS cell composition. However, reduced Ret expression was restricted to differentiating neurons and inhibitory motor neuron lineages, revealing cell type-specific enhancer activity. To determine the functional consequences of further reducing Ret dosage, we generated compound heterozygous mice carrying both the enhancer deletion and a Ret coding null allele (+/Δmcs+9.7;+/CFP). These mice exhibited additive reductions in Ret expression, altered Sox10 expression, dysregulation of cell-cycle and neuronal differentiation programs, and selective depletion of developing inhibitory motor neuron lineages. These findings establish a cell type-specific role for the mcs+9.7 enhancer in modulating Ret dosage and reveal how subtle enhancer perturbations alter neural subtype specification without overt hypoganglionosis, suggesting that HSCR arises from a cascade of cellular defects triggered by >50% loss of Ret function.

Journal Article↗

Bayesian inference of lineage trees by joint analysis of single-cell multimodal lineage-tracing data with BiLinT.

The advent of single-cell lineage-tracing technologies has enabled the simultaneous profiling of gene expression and lineage barcodes. However, accurate, high-resolution reconstruction of cell lineage trees remains challenging because most existing approaches treat these modalities separately and therefore fail to fully exploit their complementary information. Here we present BiLinT, a Bayesian framework that jointly models multimodal single-cell lineage-tracing data for lineage tree reconstruction. BiLinT integrates barcode evolution (a continuous-time Markov chain) with gene expression dynamics (an Ornstein-Uhlenbeck process) within a unified probabilistic model. Across synthetic and real data sets, BiLinT provides accurate lineage-tree reconstruction and reveals differentiation-associated clonal structure and developmental fate biases.

Journal Article↗

Fetal signatures in the 3D genome of iPSC-derived neurons and their implications for disease modeling.

Induced pluripotent stem cells (iPSCs) have revolutionized neuroscience, providing an approach to generate patient-specific neurons for modeling of neurological diseases. However, it remains unclear how closely iPSC-derived neurons replicate the chromatin architecture of authentic brain neurons. Here, we uniformly processed newly generated Hi-C data from iPSC-derived neurons and neurons isolated from the human postmortem brain, together with previously published data sets comprising 228 human and 89 mouse Hi-C and snm3C-seq samples from different cell subtypes. These data were merged into 96 high-coverage contact maps used to examine chromatin features ranging from chromatin compartments and topologically associating domains (TADs) to chromatin loops, Polycomb-mediated contacts, and frequently interacting regions (FIREs). We find that iPSC-derived neurons largely retain the chromatin state of undifferentiated cells and resemble fetal rather than mature neurons. iPSC-derived neurons exhibit unusually strong compartmentalization, an enrichment of developmental genes at TAD borders, and a marked reduction of long-range repressive Polycomb-mediated contacts that typically silence early fetal programs. Although immature, iPSC-derived neurons offer advantages for modeling interactions between disease-associated SNPs and target genes, as many psychiatric disorders have neurodevelopmental origins. Integrating iPSC-derived and postmortem neuronal data sets therefore provides complementary insights into the chromatin landscape underlying disease-associated interactions. Our study offers a valuable Hi-C resource for the community and provides a detailed comparison of chromatin architecture throughout neuronal maturation, underscoring its importance for validating neuronal models and providing a robust framework for future studies.

Journal Article↗

Moderated designs can balance between batch-effect mitigation and cell loss due to hashtag-assisted pooling in single-cell experiments.

Minimizing experimental noise is integral to robust data generation in single-cell omics. The current standard for avoiding batch effects during sample processing is barcode- or hashtag-assisted combining of different experimental treatments into one pool, allowing all samples to be subject to the technical protocols uniformly. The final data points for each treatment group are then computationally separated based on the original hashtag labels. Clearly, whereas hashtagging all groups and pooling them in a single well is expected to minimize batch effects, the procedure can also lead to a loss of cells that cannot be confidently decoded during the computational demultiplexing step. Here, we examine four alternate experimental designs, namely, compound, reference, chain, and confounded, that could be used instead of a single-pool approach and quantify the batch effects as well as cell loss in each case. We find a linear relationship-the percentage of cells lost is double the number of hashtags used in the experiment. We use these analyses to identify experimental designs that can successfully mitigate batch effects while minimizing multiplexing, hence the cell loss, in each well. Although a reference design offers the best overall performance, this study can help individual investigators choose particular approaches that are best suited for their biological questions.

Journal Article↗

SwinePan for pig graph-based pangenome and multiomics data mining.

Pigs are one of the most important livestock species worldwide. Although multiple high-quality reference genomes exist, reliance on a single linear reference limits the detection of structural variants (SVs) and the characterization of population-specific genetic diversity. To address this limitation, we developed SwinePan, a comprehensive and integrated multiomics database for pigs built on a graph-based pangenome framework. SwinePan incorporates a variome derived from the graph-based pangenome, covering 2,598 individuals across 35 breeds, including 185,759 SVs, 117 million SNPs, and 6.8 million indels. The database also integrates transcriptomic data from liver, loin muscle, abdominal fat, and backfat, along with over 150,000 phenotypic records. The online toolkit deployed in SwinePan enables genome-wide association studies (GWAS), expression quantitative trait locus (eQTL) mapping, and colocalization, while interactive modules visualize population structure and multiomics associations, streamlining candidate gene and variant exploration. Additionally, two proof-of-concept analyses demonstrate how SwinePan pinpoints trait-associated loci and deciphers their potential regulatory mechanisms.

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T2T genomes of Caenorhabditis nigoni and Caenorhabditis briggsae reveal divergence in satellite DNA abundance.

The two closely related nematode species, Caenorhabditis nigoni and Caenorhabditis briggsae, are commonly used to study the evolution of reproductive modes in animals, with the self-fertile C. briggsae and outcrossing C. nigoni sharing a common ancestor ∼3.5 million years ago. Earlier genomic analyses revealed that selfing Caenorhabditis species have smaller genomes and proposed that at least some gene loss in C. briggsae is adaptive. However, the incomplete C. nigoni reference genome has limited most comparative analyses to genic regions. Here, we leverage long-read sequencing to generate and annotate telomere-to-telomere (T2T) assemblies for the C. nigoni strain JU1422 and the C. briggsae strain AF16. This new 139 Mb C. nigoni genome resolves 57 gaps and 149 unassigned scaffolds from the previous genome assembly. A major driver of the size difference with the 107 Mb T2T C. briggsae genome is the abundance of satellite DNA, which accounts for 12.8 Mb (9.2%) in C. nigoni and only 3.2 Mb (3.0%) in C. briggsae Notably, the C. nigoni X Chromosome is 13.4 Mb larger than in the previous assembly, making it 60% larger than the C. briggsae X Chromosome compared with 18%-26% difference for the autosomes. We also document a surprising degree of plasticity in the ribosomal DNA, with the C. nigoni X Chromosome harboring a second 45S rDNA array that is absent in C. briggsae The hitherto undocumented divergence in the abundance of repetitive DNA elements makes the new genomes an invaluable resource for genomic analysis.

Journal Article↗

Dual-contrastive learning for spatial domain identification in spatial transcriptomics with STAMGC.

Spatial transcriptomics (STs) have become a valuable approach for understanding the growth and development of organisms. Despite the recent emergence of numerous ST models, accurately identifying spatial domains remains challenging owing to the trade-off between preserving local details and reducing noise. Here, we introduce STAMGC, which is a dual-contrastive learning framework built upon graph convolutional networks. This model leverages regional and topological contrastive learning to jointly optimize the model, effectively reducing the noise in spatial domain identification and enhancing the extraction of detailed features. In this study, Gaussian smoothing, originally developed in the image processing field, is introduced to process ST data, providing a foundation for region-level contrastive learning by mitigating spatial discontinuities of gene expression signals. Experimental results indicate that STAMGC outperforms existing methods across multiple data sets according to comprehensive evaluations. Furthermore, STAMGC not only identifies finer structures in the mouse brain but also brings new discoveries for human breast cancer research.

Journal Article↗

A network of steroid receptor transcription factors regulates ovarian chromatin remodeling in the transition to ovulation.

Steroid receptors are transcription factors activated by progesterone, androgen, and glucocorticoid that bind the same canonical DNA sequence to modulate genome function in response to steroid hormones. However, the mechanisms defining unique physiological roles of these conserved receptors within the same tissue context, including the ovary, remain elusive. Here, we describe the dynamic association between each steroid receptor cistrome in the mouse ovary responding to the hormonal switch from follicle development to ovulation and generate chromatin conformation maps to define steroid receptor roles in promoter-enhancer interactions and gene transcription. Ovulatory hormones trigger progesterone receptor (PGR) and glucocorticoid receptor (NR3C1 [also known as GR]) binding to novel chromatin sites, promoting transcriptional activation of genes that are required for ovulation, whereas AR-chromatin interactions and androgen receptor (AR)-associated genes are repressed. Integration of genomic and transcriptomic data illustrates two parallel modes of PGR-mediated gene activation. Unique cooperation between PGR and GR enables their recruitment to previously inaccessible promoters, increasing histone acetylation, chromatin accessibility, and transcription activation, with PGR being the indispensable component of this transcriptional complex. Alternatively, PGR tethered to enhancers interacting with preaccessible, AR/GR-bound promoters induces gene activation. Our findings illustrate the multifaceted steroid receptor interactions that translate progressive change in steroid environments to collectively reprogram granulosa cell genome function to switch from follicle development to ovulation.

Journal Article↗

A horizontally transferred bacterial gene for pantothenic acid biosynthesis regulates diapause and reproduction in the spider mite Amphitetranychus viennensis.

Horizontal gene transfer (HGT) has contributed substantially to the evolution of arthropod genomes, yet the functional significance of many horizontally acquired genes remains poorly understood. The hawthorn spider mite, Amphitetranychus viennensis, is a devastating agricultural pest whose high fecundity and overwintering diapause afford its exceptional ecological resilience. Through a genome-wide screen, we identified 37 high-confidence horizontally transferred genes (HTGs) in A. viennensis. Among these candidates, we prioritized AvPBL, a gene encoding pantothenate-β-alanine ligase, for functional characterization because it controls the rate-limiting step of a distinctly non-metazoan pantothenic acid (vitamin B5) biosynthesis pathway. RNAi-mediated suppression of AvPBL significantly reduced transcript abundance and endogenous pantothenic acid levels, triggering a 23.7% reduction in cumulative fecundity and severely compromising the mites' ability to enter winter diapause. Importantly, exogenous pantothenic acid supplementation rescued these reproductive and diapause defects, directly linking the observed phenotypes to the disruption of pantothenic acid biosynthesis. Our results demonstrate that the horizontally transferred bacterial gene AvPBL has been functionally integrated into the endogenous metabolic network of A. viennensis, playing a critical role in vitamin B5 biosynthesis, reproduction, and diapause regulation. These findings provide direct evidence that horizontally acquired metabolic genes can shape key life-history traits and drive adaptive evolution in arthropods.

Amphitetranychus viennensis↗

Sex pheromone communication and its regulation by the sex determination pathway in cockroaches.

Sexual communication in animals orchestrates a series of interactive behaviors from locating and recognizing potential partners to courtship and final mating decisions and is thus critical for sexual reproduction and population fitness. Highly efficient communication between the sexes requires not only the production and emission of species-specific signals but also their precise detection and interpretation by the receiving individuals. Cockroaches, as one of the most evolutionarily ancient and successful group of insects, are quintessential chemical communicators that rely heavily on sex pheromones for sexual communication. They have long served as excellent model organisms in studies of chemical ecology. Although the biochemical characterization of sex pheromones in several species was largely accomplished during the last century, the past two decades have witnessed remarkable progress in understanding the molecular genetics of sex pheromone communication and its regulation, particularly driven by functional genomics. This review first provides an updated comparative survey of the pheromone components identified across distinct taxa. We then synthesize, but not limited to, recent advances in identification of key molecules controlling sex pheromone production, characterization of candidate chemosensory receptors and their neural processing pathways, and the regulatory roles of the sex determination cascade in shaping sexually dimorphic traits in both pheromone production and perception. Finally, we highlight key scientific questions that remain unsolved and propose future directions aimed at extending our mechanistic understanding of cockroach pheromone communication, as well as at developing behavior-based pest management strategies.

biosynthetic pathway↗

A Deep Model Framework for Morphological Trait Imputation Across Taxonomic Groups.

Incomplete morphological trait data pose major hurdles for trait-based analyses, particularly when missing values, multicollinearity, and sparse sampling constrain inference. These issues limit our ability to quantify trait variation and explore broad patterns of functional differentiation across taxa. Here, we introduce FS-DeepRBFNet, which overcomes these pitfalls through integrating correlation-based feature selection with a dual-layer adaptive radial basis function (RBF) network. This end-to-end approach effectively reduces noise and captures both linear allometric trends and nonlinear morphological relationships. We tested the framework on a large species-level morphological trait dataset of Chinese birds and further validated its cross-taxon transferability using the Amphibian Database (Caudata). FS-DeepRBFNet consistently outperformed conventional methods such as KNN, Random Forest, and XGBoost, demonstrating superior predictive accuracy across multiple traits. Beyond improvements, the model revealed biologically interpretable trait associations and stable cross-taxon generalization. These results demonstrate that FS-DeepRBFNet provides a robust and biologically grounded solution for morphological trait prediction, enabling reliable imputation for comparative phylogenetics, functional ecology, and biodiversity forecasting in data-limited situations.

cross‐taxon transferability↗

Building Families-Implementing Balanced Sexual and Reproductive Health: A Joint IFFS and ISA Scientific Statement.

One of the main initiatives of the World Health Organization (WHO) is the promotion of Sexual and Reproductive Health (SRH). Sexuality, infertility, and contraception are three interconnected pillars of SRH, each essential for achieving global equity in family planning and family building. This scientific Statement, jointly developed by the International Federation of Fertility Societies (IFFS) and the International Society of Andrology (ISA), advocates for inclusive, evidence-based care for all individuals and couples, regardless of geography or socioeconomic status. The Statement underscores the need to enhance practitioner and policymaker education to support access to infertility evaluations and treatments for both men and women and to promote the availability of comprehensive contraceptive services for all in need. The Statement addresses three core domains: sexuality, infertility, and contraception. It emphasizes a biopsychosocial approach to SRH, highlighting the complex interplay between sexual function and fertility. Infertility is a multifactorial condition requiring early, holistic, and multidisciplinary management, including integrated male and female evaluations, medically assisted reproduction, and fertility preservation strategies. Contraception is explored through the lens of global unmet needs, expanding options for male contraceptives, and the importance of socio-culturally sensitive education and counseling. The joint efforts of the IFFS and ISA call for couple-centered SRH, acknowledging the sociocultural and policy challenges that affect access to care in a region-specific manner. This Statement aims to serve as a clinical and advocacy guide for practitioners and stakeholders, reinforcing that reproductive autonomy and access to care are vital components and duties for policymakers when developing public health strategies.

contraception↗

A CCNA1 Missense Variant Associated With Chromatid Non-Disjunction in Abnormal-Headed Sperm and Male Infertility.

BACKGROUND: Macrozoospermia is a rare form of teratozoospermia characterized by tetraploids, large-headed spermatozoa with multiple flagella, usually caused by bi-allelic AURKC mutations. The etiology of atypical phenotypes with a lower proportion of large headed spermatozoa and single flagella however often remains unresolved. OBJECTIVE: To investigate the genetic cause of severe sperm-head abnormalities with moderate macrozoospermia without multiflagellated spermatozoa in a patient with repeated ICSI failure. An infertile male with three failed ICSI attempts underwent semen analysis, revealing complete teratozoospermia, including 25% macrocephalic spermatozoa. METHODS: Multi-probe FISH targeting chromosomes 13, 18, 21, X, Y assessed chromosomal segregation. Whole-exome sequencing (WES) was performed to identify a candidate variant associated with meiotic abnormalities. RESULTS: FISH analysis revealed a high proportion of spermatozoa with n (23) chromosomes and 2c DNA content, consistent with sister chromatid non-disjunction during meiosis II. WES identified a homozygous missense variation in CCNA1, coding for a protein described to be essential for meiotic progression and chromatin remodeling in male germ cells. DISCUSSION: The variant affects a highly conserved residue within a functional domain and is predicted to be deleterious. This study establishes the first clinical association between CCNA1 mutations and chromatid non-disjunction in human spermatogenesis. It highlights the limitations of current morphology-based diagnostic thresholds and supports cytogenetic and genomic assessment for severe teratozoospermia (especially head abnormalities) and ART failure. CONCLUSION: Expanding genetic screening panels to include CCNA1 may improve diagnostic precision and clinical management in atypical macrozoospermia cases.

ART failure↗

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss-of-function (LOF) variants in PIP5K1C, reported in only two families to date. It typically presents with severe fetal akinesia, arthrogryposis multiplex congenita, and perinatal lethality due to respiratory insufficiency case. Herein, we report a new case with survival beyond birth. Prenatal findings included clubfeet with preserved amniotic fluid volume and fetal movements. The infant was delivered by cesarean section at 37 + 7 weeks following breech presentation and developed respiratory distress requiring 14 days of ventilatory support. Physical examination revealed bilateral talipes equinovarus, flexion contractures of the knees, restricted hip mobility, clenched hands with flexion contractures of the third and fourth fingers, and hyperextension of the second and fifth fingers. Neurologically, he had encephalopathy, profound hypotonia with a frog posture, and abnormal neonatal reflexes with a discontinuous background pattern on cerebral function monitoring. Additional observed features were bilateral optic atrophy and hyperinsulinemic hypoglycemia responsive to Diazoxide. Trio genome sequencing identified a homozygous pathogenic splice-site variant in PIP5K1C (c.1127+1G>A, NM_012398.3). The infant died at 6 months from multisystemic failure. Further studies are warranted to elucidate the pathomechanisms underlying the PIP5K1C defect and its phenotypic consequences.

LCCS3↗

Lung Squamous Cell Carcinoma Harbouring a Novel PAX8::PPARγ Fusion and a FGFR2 Exon 7 Missense Mutation.

Comprehensive molecular profiling is now routinely performed in newly diagnosed non-small cell lung carcinomas (NSCLCs) to identify actionable genomic alterations. Although numerous molecular abnormalities have been described in lung carcinomas, rare and unexpected gene fusions may create significant diagnostic challenges, particularly when they are characteristically associated with tumours of different lineages. To our knowledge, this is the first reported case of a primary lung squamous cell carcinoma harbouring an in-frame PAX8::PPARγ fusion with a concurrent FGFR2 exon 7 missense mutation (p.W290C). An 80-year-old man with a smoking history exceeding 50 years presented with a rapidly enlarging PET-avid right upper lobe pulmonary mass. Bronchial brushing cytology demonstrated a hypercellular malignant neoplasm composed of pleomorphic squamoid cells with hyperchromatic nuclei, dense cytoplasm and extensive necrosis. Cell block material showed squamous morphology and diffuse p40 positivity, supporting squamous differentiation. Reflex next-generation sequencing identified an FGFR2 exon 7 missense mutation (p.W290C; c.870G>C) and targeted RNA fusion analysis demonstrated an in-frame PAX8::PPARγ fusion resulting from a t(2;3)(q13;p25.2) translocation. Because PAX8::PPARγ rearrangements are strongly associated with follicular thyroid neoplasms, extensive clinicoradiologic and immunohistochemical correlation was performed to exclude metastatic thyroid carcinoma. Imaging studies showed no thyroid lesion or residual thyroid tissue, and tumour cells were negative for thyroglobulin, TTF-1 and PAX8. Correlation of the clinical history, radiologic findings, cytomorphology, immunophenotype and molecular profile supported the diagnosis of primary lung squamous cell carcinoma. This case expands the molecular spectrum of lung squamous cell carcinoma and highlights the importance of integrated cytopathologic, immunohistochemical, molecular and radiologic evaluation when unexpected gene fusions are identified in cytology specimens.

FGFR2 exon 7 missense mutation↗

Natural variation in GmSOP5 regulates seed oil and protein content during soybean domestication.

Seed oil content, protein content, and yield are agronomically important, correlated traits that determine the economic value of soybean (Glycine max). However, improving seed quality and yield simultaneously is challenging because gains in one breeding target often compromise the other, and the genetic basis of this trade-off is poorly understood. Here, we performed a genome-wide association study of 429 diverse soybean accessions and identified Seed Oil and Protein 5 (SOP5), which encodes a kinesin protein, as a key locus associated with seed oil and protein content. Knockout and overexpression experiments demonstrated that GmSOP5 positively affects seed oil content and 100-seed weight and negatively influences seed protein content. GmSOP5 is located in a selective sweep region, and the domestication-related GmSOP5H1 allele is nearly fixed in cultivated soybean, contributing to increased seed size, weight, and oil content and reduced protein content. Field trials demonstrated that neither loss-of-function GmSOP5-edited mutants, which have increased seed protein content, nor GmSOP5-overexpression lines, which have increased seed oil content, differed significantly in yield from wild-type plants, because changes in plant architecture were offset by changes in seed weight. Our results shed light on soybean domestication and suggest how pleiotropy can be harnessed in breeding to enhance seed quality without compromising yield.

GWAS↗

A robust biotechnology induces artificial genomic duplication via transient RNAi-mediated suppression of OSD1 in rice.

Ploidy manipulation is a crucial strategy for generating germplasm in crop breeding. However, artificial genomic duplication, often induced by colchicine treatment, is associated with toxicity and unpredictability. Although mutations in OSD1 have shown promise for inducing genomic duplication, the instability of ploidy across generations limits their practical application. In this study, we developed a Plant Polyploidization via Gene Interference (PPGI) system that utilizes transient RNAi-mediated suppression of OSD1 to efficiently induce artificial genomic duplication, demonstrating obvious potential for producing autotetraploids. We first validated this system by successfully generating PPGI-induced autotetraploid plants from the Taichung65 cultivar. These PPGI-induced plants exhibited notable differences from Taichung65 but resembled the existing Taichung65-4x line obtained through colchicine treatment. Haplotype analysis indicated that the OSD1 RNAi fragment is conserved across 2,908 rice cultivars. Consequently, we employed the same PPGI vector to develop autotetraploid lines from various germplasms, including another japonica cultivar, seven indica cultivars, and one Oryza rufipogon line. The probability of genomic duplication achieved by our PPGI method was higher than that obtained by colchicine treatment. Typically, autotetraploid lines exhibit severe sterility in the first generation following polyploidization. Leveraging fertile neo-tetraploid rice and the PPGI system, we designed and verified two strategies to directly induce fertile autotetraploid germplasms in the first generation, thereby substantially shortening the breeding cycle. Our method provides a universal, efficient, and non-toxic approach for inducing autotetraploid rice germplasms and contributes to enriching fertile autotetraploid rice germplasm resources.

OSD1↗