Search Results (812)

Sex determination is a fundamental biological process governing animal reproduction. Although substantial progress has been made in elucidating its genetic basis, the genetic architecture underlying complex sex determination systems remains poorly understood. In this study, we identify sex-associated insertion–deletion (indel) variants, screen candidate genes, and compare sex-associated variation across populations with different genetic backgrounds in the Fujian oyster (Magallana angulata). Based on whole-genome resequencing data of a culture strain (designated FL), a total of 299,774 high-quality indels were identified. By integrating genome-wide association analysis (GWAS), fixation index (F_ST) analysis, and sex-biased genotype frequency comparisons, 77 overlapping sex-associated indels were identified, predominantly clustered within a 1.8 Mb (8.3–10.1 Mb) region on chromosome 9. Principal component analysis (PCA) based on the sex-associated markers and their subsets consistently separated male and female individuals in the FL strain. For two representative sex-associated indels, PCR-based genotyping methods were developed and validated. Functional annotation identified putative candidate genes for sex determination, including PKD1L1, 5-HTRL, SCP, and CCKRa. Comparative analysis of variants within PKD1L1 across wild, farmed, and selectively bred populations revealed a progressive enrichment of male-linked alleles in domesticated and selectively bred groups, particularly in male individuals. This study provides direct evidence that sex in the Fujian oyster is genetically determined and reveals that domestication and artificial selection may drive the emergence of major sex-determining loci, offering important insights into the genetic basis of sex determination in the Fujian oyster, and establishing a theoretical and practical foundation for molecular marker-assisted breeding of monosex lines for this species. Full article

As the fourth-largest global food crop, the quality and functional characteristics of processed potato products are closely linked to endogenous sugar metabolism in tubers, with the trehalose–sucrose metabolism playing a key role in processing adaptability. This study analyzed 333 accessions from a tetraploid potato natural population. The trehalose and sucrose content of potato tubers at harvest was quantified using the high-performance liquid chromatography (HPLC) method. Combined with whole-genome resequencing, a genome-wide association study (GWAS) was conducted to map regulatory loci and identify candidate genes. The results showed that relative trehalose content in tubers was 20.38–24.78, while relative sucrose content was 10.32–19.50. Frequency histograms for both sugars exhibited normal distributions characteristic of quantitative traits, and a positive correlation was observed between them. GWAS for trehalose identified 111 significant SNP loci, mainly on chromosomes 10 and 12, leading to the identification of 88 candidate genes. Kyoto encyclopedia of genes and genomes analysis (KEGG) revealed that trehalose-related genes were primarily involved in pathways such as ABC transporters, tricarboxylic acid (TCA) cycle, and cysteine and methionine metabolism. Candidate genes potentially regulating tuber trehalose content included GH10, GH28, GH127, UXS, UGT, PMEI, and MYB108. For sucrose, GWAS identified 279 significant SNP loci, mainly on chromosomes 5, 6, and 12, resulting in 111 candidate genes. KEGG enrichment analysis showed that sucrose-related genes were enriched in pathways including starch and sucrose metabolism, cyanoamino acid metabolism, and phenylpropanoid biosynthesis. Candidate genes potentially regulating tuber sucrose content included GH17, GH31,GH47, GH9A4, SPP1, BGLU12, GSA1, TPS8, cwINV4, HXK, UST, MYB5, MYB14, and WRKY11. Therefore, this study provides marker loci for trehalose and sucrose metabolism research, aiming to clarify their regulatory mechanisms and support potato variety improvement and superior germplasm development. Full article

A major cause of lameness in turkeys is reoviral arthritis, driven by turkey reovirus (TRV) infection. In the U.S., TRV was first isolated in the 1980s but re-emerged as a significant pathogen causing arthritis in 2011. Since then, TRV outbreaks have spread nationwide across turkey-producing regions and have occasionally resulted in hepatitis-associated pathotypes. The absence of a consistently effective commercial vaccine continues to hinder disease control efforts. To better understand TRV’s evolutionary trajectory and transmission dynamics, we analyzed 211 complete TRV genome sequences collected across the U.S. from 2007 to 2021. Bayesian time-scaled phylogenetic and phylogeographic analyses were conducted for all ten genome segments to estimate gene flow among geographic regions, client groups, and pathotypes. The results reconstructed a coherent, decades-long history of TRV evolution, which revealed segment-specific differences in the evolutionary rates—particularly in S1c (σC protein coding region of S1) and M2—suggesting reassortment with other avian reoviruses during the 2011 emergence. Nationwide spread patterns indicated dominant transmission routes from the Eastern U.S. to Minnesota and from breeder to smallholder flocks, likely driven by inter-regional animal or feed movement via the multi-stage turkey production cycle. Pathotype transitions were more frequently observed from arthritis-associated strains to those causing hepatitis or cardiac lesions. These findings provide crucial insights to support national TRV control strategies and long-term monitoring by industry stakeholders. Full article

Germplasm resources embody the genetic diversity of plants and form the foundation for breeding and the ongoing improvement of elite cultivars. The establishment of germplasm banks, along with their systematic evaluation, constitutes a critical step toward the conservation, sustainable use, and innovative utilization of these resources. Liriodendron, a rare and endangered tree genus with species distributed in both East Asia and North America, holds considerable ecological, ornamental, and economic significance. However, a standardized evaluation system for Liriodendron germplasm remains unavailable. In this study, 297 Liriodendron germplasm accessions were comprehensively evaluated using 34 phenotypic traits and whole-genome resequencing data. Substantial variation was observed in most phenotypic traits, with significant correlations identified among several characteristics. Cluster analysis based on phenotypic data grouped the accessions into three distinct clusters, each exhibiting unique distribution patterns. This classification was further supported by principal component analysis (PCA), which effectively captured the underlying variation among accessions. These phenotypic groupings demonstrated high consistency with subsequent population structure analysis based on SNP markers (K = 3). Notably, several key traits exhibited significant divergence (p < 0.05) among distinct genetic clusters, thereby validating the coordinated association between phenotypic variation and molecular markers. Genetic diversity and population structure were assessed using 4204 high-quality single-nucleotide polymorphism (SNP) markers obtained through stringent filtering. The results indicated that the Liriodendron sino-americanum displayed the highest genetic diversity, with an expected heterozygosity (He) of 0.18 and a polymorphic information content (PIC) of 0.14. In addition, both hierarchical clustering and PCA revealed clear population differentiation among the accessions. Association analysis between three phenotypic traits (DBH, annual height increment, and branch number) and SNPs identified 25 highly significant SNP loci (p < 0.01). Of particular interest, the branch number-associated locus SNP_17_69375264 (p = 1.03 × 10⁻⁵) demonstrated the strongest association, highlighting distinct genetic regulation patterns among different growth traits. A minimal set of 13 core SNP markers was subsequently used to construct unique DNA fingerprints for all 297 accessions. In conclusion, this study systematically characterized phenotypic traits in Liriodendron, identified high-quality and core SNPs, and established correlations between key phenotypic and molecular markers. These achievements enabled differential analysis and genetic diversity assessment of Liriodendron germplasm, along with the construction of DNA fingerprint profiles. The results provide crucial theoretical basis and technical support for germplasm conservation, accurate identification, and utilization of Liriodendron resources, while offering significant practical value for variety selection, reproduction and commercial applications of this species. Full article

Red epicarp in pears is an important trait for breeding. Exploring the genes regulating pear anthocyanin synthesis and developing molecular markers associated with these traits are important for obtaining new varieties of red pears. We performed whole-genome resequencing (WGS) on 127 ‘Yuluxiang (Pyrus bretschneideri)’ × ‘Xianghongli (Pyrus communis)’ F1 populations and identified a total of 510,179 single-nucleotide polymorphism (SNP) sites in the population. In total, 1972 bins were screened to form a high-density genetic map with a total map length of 815.507 cM, covering 17 linkage groups with an average genetic distance of 0.414 cM between markers. Three red skin quantitative trait loci (QTLs), located on LG4 and LG5, that explained 18.7% of the phenotypic variance, were detected. The QTL intervals contained 1658 genes, including 94 transcription factors (TF), subjected to Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses. Four key candidate genes (Pspp.Chr05.01969, Pspp.Chr05.01908, Pspp.Chr05.02419, and Pspp.Chr04.01087) that may play a role in promoting pear anthocyanin synthesis were screened and identified by a quantitative polymerase chain reaction (qPCR). Overall, our study deepens our understanding of the genetics of red peel traits in pears and accelerates pear breeding. Full article

Mugil cephalus is a cosmopolitan marine fish highly relevant from ecological and economic perspectives. Previous studies identified sex-associated variants in the follicle-stimulating hormone receptor (fshr) gene following an XX/XY sex determination (SD) system. However, these variants could not be fully associated with sex in all samples. This suggests other genes and/or environmental factors may be involved in the SD of this species, denoting intraspecific variation. In this study, we constructed a new high-quality genome assembly of M. cephalus. We then re-sequenced the whole genome in males and females from two divergent Mediterranean populations to ascertain whether other genetic variants could also be involved in SD. fshr gene variants showed to only partially explain SD, while a new intronic variant in the sestd1 gene appeared to be associated with SD following a ZZ/ZW system. The presence of other putative candidate SD variants showing significant differences between the two populations suggested a regional pattern of variation in SD in the Mediterranean Sea. The incomplete association of all the identified variants also pointed to a potential role for environmental factors. Full article

Sorghum is a crucial food crop, and utilizing heterosis is significant for yield enhancement. To classify heterotic groups in sorghum, 96 inbred lines (48 male sterile lines and 48 restoring lines) were previously analyzed using whole-genome resequencing (WGRS) technology, from which 9691 high-quality SNP markers were obtained. In this study, the materials were divided into two groups—Group I (36 lines; predominantly restoring lines) and Group II (60 lines; mainly male sterile lines)—according to their genetic distances, and 8 lines were selected from each group for incomplete diallel crosses, producing 64 hybrid combinations for analyzing ten agronomic traits and their relationship with heterosis and combining ability. Heterosis analysis revealed that yield-related traits (plant weight, grain yield, and single-spike grain weight) exhibited the strongest heterosis, followed by morphological and developmental traits. The general combining-ability variance exceeded the specific combining-ability variance for traits controlled by additive gene effects. The results demonstrate that WGRS technology effectively classifies heterotic groups in sorghum, providing scientific support for parent selection in hybrid breeding. While combining-ability analysis offers higher predictability for heterosis than molecular genetic distance, genetic distance remains valuable for predicting heterosis. Full article

Local adaptation allows animal populations to persist in diverse and changing environments, yet its genomic underpinnings remain poorly characterized in livestock. Chinese indigenous pigs, renowned for their rich phenotypic and ecological diversity, offer a powerful model for investigating environmental adaptation. Here, we integrated whole-genome resequencing data, environmental variables, genotype–environment association (GEA) analyses, and functional annotation to explore the adaptive genomic landscape of 46 native pig breeds across China. Based on 578 individuals and 17.7 million SNPs, we performed genome-wide GEA using latent factor mixed models (LFMMs), identifying 8644 SNPs significantly associated with environmental factors, including 310 linked to precipitation in the wettest quarter (BIO16). Redundancy analysis (RDA) and gradient forest modeling identified BIO16 as a major environmental driver of genomic variation. Functional annotation of BIO16-associated SNPs revealed significant enrichment in regulatory elements and genes highly expressed in the lung, spleen, hypothalamus, and intestine, implicating immune and metabolic pathways in local adaptation. Among the candidate loci, MS4A7 exhibited strong association signals, population differentiation, and tissue-specific regulation, suggesting a role in precipitation-mediated adaptation. This work enhances our understanding of livestock adaptation and informs climate-resilient conservation and breeding strategies. Full article

Transposable elements (TEs) serve as important drivers mediating polyploidization events and phenotypic diversification in plant genomes. However, the dynamic changes in various TE subclasses post-polyploidization and their mechanisms of influencing phenotypic variation require further investigation. The allopolyploid Gossypium species, originating from two diploid progenitors, provide an ideal model for studying TE dynamics following polyploidization. This study investigated TE dynamics post-polyploidization based on 21 diploid and 7 polyploid cotton genomes. The Tekay subclass of the Gypsy serves as a major driver of Gossypium genome evolution, as it underwent two burst events in the At-subgenome and its progenitor, exhibiting the highest abundance, longest length, and largest proportion among all TE subclasses. In contrast, the Gopia superfamily Tork subclass has lower abundance but greater genic association, facilitating environmental adaptation and phenotypic variation. Additionally, a pan-TE-related structural variation, the pan-TRV map, was constructed by integrating resequencing data from 256 accessions. Genome-wide analysis of 28 cotton genomes identified 142,802 TRVs, among which 72,116 showed polymorphisms in the 256 G. hirsutum accessions. The Gypsy superfamily, particularly the Tekay subclass, has been identified as a major source of TRVs, while Copia-type elements demonstrate significantly greater enrichment in gene-proximal genomic regions. A total of 334 TRVs exhibiting statistically significant associations with 10 key phenotypic traits, including 164 TRVs affecting yield components and 170 TRVs determining fiber quality. This investigation delineates the evolutionary significance of transposable elements in Gossypium genome diversification while simultaneously providing novel functional markers and potential editing targets for genetic dissection and molecular breeding of key agronomic traits in cotton. Full article

In this study, we performed whole-genome resequencing (WGS) to investigate genomic variation and functional divergence among four wild Cymbidium species—C. ensifolium, C. sinense, C. kanran, and C. floribundum—collected from Fujian Province, China. A total of 350.58 Gbp of high-quality sequencing data was obtained from 13 samples, enabling comprehensive identification of SNPs and InDels. Genomic variants were unevenly distributed, with lower variation in gene-rich regions and higher levels in non-coding areas. Circos plots and variant density heatmaps revealed significant regional differences across chromosomes, with longer chromosomes exhibiting greater variant enrichment in 1 Mb windows. C. floribundum harbored the highest number of nonsynonymous SNPs and InDel-associated genes, whereas C. sinense and C. kanran had fewer mutations. KEGG pathway enrichment analysis revealed species-specific functional divergence, particularly in metabolism, stress response, and secondary metabolite biosynthesis. Population structure analysis and principal component analysis (PCA) indicated genetic differentiation among these species Notably, C. kanran exhibited high within-population genetic diversity. These findings provide essential genomic resources for the conservation and functional studies of wild Cymbidium species in subtropical China. Full article

Speed is not only the primary objective of racehorse breeding but also a crucial indicator for evaluating racehorse performance. This study investigates a newly developed racehorse breed in China. Through whole-genome resequencing, we selected 60 offspring obtained from the crossbreeding of Thoroughbred horses and Xilingol horses for this study. This breed is tentatively named “Grassland-Thoroughbred”, and the samples were divided into two groups based on racing ability: 30 racehorses and 30 non-racehorses. Based on whole-genome sequencing data, the study achieved an average sequencing depth of 25.63×. The analysis revealed strong selection pressure on chromosomes (Chr) 1 and 3. Selection signals were detected using methods such as the nucleotide diversity ratio (π ratio), integrated haplotype score (iHS), fixation index (Fst), and cross-population extended haplotype homozygosity (XP-EHH). Regions ranked in the top 5% by at least three methods were designated as candidate regions. This approach detected 215 candidate genes. Additionally, the Fst method was employed to detect Indels, and the top 1% regions detected were considered candidate regions, covering 661 candidate genes. Functional enrichment analysis of the candidate genes suggests that pathways related to immune regulation, neural signal transmission, muscle contraction, and energy metabolism may significantly influence differences in performance. Among these identified genes, PPARGC1A, FOXO1, SGCD, FOXP2, PRKG1, SLC25A15, CKMT2, and TRAP1 play crucial roles in muscle function, metabolism, sensory perception, and neurobiology, indicating their key significance in shaping racehorse phenotypes. This study not only enhances understanding of the molecular mechanisms underlying racehorse speed but also provides essential theoretical and practical references for the molecular breeding of Grassland-Thoroughbreds. Full article

Seed oil represents a key trait in soybeans, which holds substantial economic significance, contributing to roughly 60% of global oilseed production. This research employed genome-wide association mapping to identify genetic loci associated with oil content in soybean seeds. A panel comprising 341 soybean accessions, primarily sourced from Northeast China, was assessed for seed oil content at Heilongjiang Province in three replications over two growing seasons (2021 and 2023) and underwent genotyping via whole-genome resequencing, resulting in 1,048,576 high-quality SNP markers. Phenotypic analysis indicated notable variation in oil content, ranging from 11.00% to 21.77%, with an average increase of 1.73% to 2.28% across all growing regions between 2021 and 2023. A genome-wide association study (GWAS) analysis revealed 119 significant single-nucleotide polymorphism (SNP) loci associated with oil content, with a prominent cluster of 77 SNPs located on chromosome 8. Candidate gene analysis identified four key genes potentially implicated in oil content regulation, selected based on proximity to significant SNPs (≤10 kb) and functional annotation related to lipid metabolism and signal transduction. Notably, Glyma.08G123500, encoding a receptor-like kinase involved in signal transduction, contained multiple significant SNPs with PROVEAN scores ranging from deleterious (−1.633) to neutral (0.933), indicating complex functional impacts on protein function. Additional candidate genes include Glyma.08G110000 (hydroxycinnamoyl-CoA transferase), Glyma.08G117400 (PPR repeat protein), and Glyma.08G117600 (WD40 repeat protein), each showing distinct expression patterns and functional roles. Some SNP clusters were associated with increased oil content, while others correlated with decreased oil content, indicating complex genetic regulation of this trait. The findings provide molecular markers with potential for marker-assisted selection (MAS) in breeding programs aimed at increasing soybean oil content and enhancing our understanding of the genetic architecture governing this critical agricultural trait. Full article

During a prolonged domestication and environmental selection, Brassica rapa has formed diverse morphological types during a cultivation process of up to 8000 years, such as root-type turnips (Brassica rapa var. rapa), leaf-type Chinese cabbage (Brassica rapa var. pekinensis), oil-type rapeseed (Brassica rapa L.), and other rich types. China is one of the origins of Brassica rapa L., which is spread all over the east, west, south, and north of China. Studying its origin and evolution holds significant importance for unraveling the cultivation history of Chinese oilseed crops, intraspecific evolutionary relationships, and the utilization value of genetic resources. This article summarizes the cultivation history, evolution, classification research progress, and germplasm resource diversity of Brassica rapa var. oleifera in China. Combining karyotype analysis, genomic information, and wild relatives of Brassica rapa var. oleifera discovered on the Qinghai–Tibet Plateau, it is proposed that Brassica rapa var. oleifera has the characteristic of polycentric origin, and Gansu Province in China is one of the earliest regions for its cultivation. Brassica rapa var. oleifera, originating from the Mediterranean region, was diffused to the East Asian continent through two independent transmission paths (one via the Turkish Plateau and the other via Central Asia and Siberia). Analyzing the genetic diversity characteristics and evolutionary trajectories of these two transmission paths lays a foundation for clarifying the origin and evolutionary process of Brassica rapa var. oleifera and accelerating the breeding of Brassica rapa var. oleifera in China. Despite existing research on the origin of Brassica rapa L., the domestication process of this species remains unresolved. Future studies will employ whole-genome resequencing to address this fundamental question. Full article

Fusarium root rot, caused by Fusarium equiseti, poses a significant threat to soybean production. This study aimed to explore the genetic basis of resistance to Fusarium equiseti root rot (FERR) by evaluating the resistance phenotype of 346 soybean germplasms and conducting a genome-wide association study (GWAS) using 698,949 SNP markers obtained from soybean germplasm resequencing data. GWAS analysis identified 101 SNPs significantly associated with FERR resistance, distributed across nine chromosomes, with the highest number of SNPs on chromosomes 13 and 20. Further gene-based association and allele variation analyses identified candidate genes whose mutations are closely related to FERR resistance. To accelerate soybean FERR resistance breeding screening, we developed CAPS markers S13_14464319-CAPS1 and S15_9215524-CAPS2, targeting these SNP sites, and KASP markers based on the S15_9205620-G/A, providing an effective tool for marker-assisted selection (MAS). This study offers a valuable theoretical foundation and molecular marker resources for the functional validation of FERR resistance genes and soybean disease resistance breeding. Full article

A novel barna-like virus was found to be associated with field-collected Afrina sporoboliae plant-parasitic nematodes. The positive-sense, single-stranded RNA genome of this virus, named Afrina barna-like virus (AfBLV), comprises 4020 nucleotides encoding four open reading frames (ORFs). ORF 1 encodes a protein product spanning a transmembrane, a peptidase, and VPg domains, whereas an overlapping ORF 2 encodes an RNA-dependent RNA polymerase (RdRP). ORF2 may be expressed via a −1 translational frameshift. In phylogenetic reconstructions, the RdRP of AfBLV was placed inside a separate clade of barna and barna-like viruses related to but distinct from the genera in the Solemoviridae and Alvernaviridae families, within the overall lineage of Sobelivirales. ORF 3 of AfBLV encodes a protein product of 206 amino acids (aa) long with homology to a putative protein encoded by a similarly positioned gene of an uncharacterized virus sequence identified previously as Barnaviridae sp. ORF 4 encodes a 161 aa protein with no significant similarities to sequences in the GenBank databases. AfBLV is the first barnavirus found in a nematode. Sequence comparisons of the AfBLV genome and genomes of other barna-like viruses suggested that a recombination event was involved in the evolution of AfBLV. Analyses of the phylogeny of RdRPs and genome organizations of barna-like and solemo-like viruses support the re-classification of Barnavirus and Dinornavirus genera as members of the Solemoviridae family. Full article