Search Results (500)

Fruit size is an important agronomic trait affecting the yield and commercial value of melon and a key trait selected for during domestication. In this study, two respective melon accessions (large-fruited M202008 and small-fruited M202009) were crossed, and developed biparental mapping populations of the F₂ generation (160 and 382 plants) were checked across two subsequent experimental years (2023 and 2024). The phenotypic characterization and genetic inheritance analysis showed that melon fruit size is modulated by quantitative genetics. Bulked segregant sequencing analysis (BSA-seq) identified a stable and effective quantitative trait locus (QTL, named Cmfs) controlling fruit size, localized to a 3.75 Mb region on chromosome 9. To better delineate the main-effect Cmfs locus, co-dominant polymorphic molecular markers were developed in this genetic interval, and genotyping was performed within the F₂ mapping populations grown across two years. QTL analysis of the phenotypic and genotypic datasets delimited the major-effect Cmfs locus interval for fruit length [2023: logarithm of odds (LOD) value = 6.16, 16.20% phenotypic variation explained (PVE); 2024: LOD = 5.44, 6.35% PVE] and fruit diameter (2023: LOD value = 5.48, 14.59% PVE; 2024: LOD = 6.22, 7.22% PVE) to 1.88 and 2.20 Mb intervals, respectively. The annotation analysis across the melon genome and comparison of resequencing data from the two parental lines led to the preliminary identification of MELO3C021600.1 (annotated as cytochrome P450 724B1) as a candidate gene related to melon fruit size. These results provide a better understanding for further fine mapping and functional gene analysis related to melon fruit size. Full article

Background/Objetives: Sea lice (Caligus rogercresseyi) pose a major threat to Atlantic salmon (Salmo salar) aquaculture by compromising fish health and reducing production efficiency. While genetic variation in parasite load has been reported, the molecular mechanisms underlying this variation remain unclear. Methods: two sea lice challenge trials were conducted, achieving high infestation rates (47.5% and 43.5%). A total of 85 fish, selected based on extreme phenotypes for lice burden (42 low, 43 high), were subjected to transcriptomic analysis. Differential gene expression was integrated with allele-specific expression (ASE) analysis to uncover cis-regulatory variation influencing host response. Results: Sixty genes showed significant ASE (p < 0.05), including 33 overexpressed and 27 underexpressed. Overexpressed ASE genes included Keratin 15, Collagen IV/V, TRIM16, and Angiopoietin-1-like, which are associated with epithelial integrity, immune response, and tissue remodeling. Underexpressed ASE genes such as SOCS3, CSF3R, and Neutrophil cytosolic factor suggest individual variation in cytokine signaling and oxidative stress pathways. Conclusions: several ASE genes co-localized with previously identified QTLs for sea lice resistance, indicating that cis-regulatory variants contribute to phenotypic differences in parasite susceptibility. These results highlight ASE analysis as a powerful tool to identify functional regulatory elements and provide valuable candidates for selective breeding and genomic improvement strategies in aquaculture. Full article

Branching is a critical agronomic trait in flowering Chinese cabbage (Brassica rapa subsp. chinensis), influencing plant architecture and yield. In this study, there was a highly significant difference between CX010 (single primary rosette branches) and BCT18 (multiple primary rosette branches). Phenotypic analysis revealed significant differences in primary rosette branch numbers, with BCT18 showing up to 15 branches and CX010 displaying only one main stem branch. Genetic analysis indicated that branching was controlled by quantitative trait loci (QTL) with a normal distribution of branch numbers. Using bulked segregant analysis coupled with sequencing (BSA-seq), we identified a candidate interval of approximately 2.96 Mb on chromosome A07 linked to branching. Fine mapping narrowed this to a 172 kb region containing 29 genes, with BraA07g032600.3C (BrTCP1) as the most likely candidate. cDNA cloning of the BrTCP1 gene revealed several variations in BCT18 compared to CX010, including a 6 bp insertion, 10 SNPs, and two single-nucleotide deletions. Expression analysis indicated that BrTCP1 was highly expressed in the rosette stems of CX010 compared to BCT18, consistent with its role as a branching suppressor. The heterologous mutants in Arabidopsis confirmed the conserved role of BrTCP1 in branch inhibition. These findings reveal that BrTCP1 might be a key regulator of branching in flowering Chinese cabbage, providing insights into the molecular mechanisms underlying this trait and offering a framework for genetic improvement in Brassica crops. Full article

Nightlily (Hemerocallis citrina Baroni) is mainly cultivated for bud consumption with medicinal, nutritional, and economic value. Enhancing nightlily yield is one of the most significant breeding goals of modern agriculture of H. citrina breeding objective, but it also faces great challenges. In this study, an intraspecific hybridization population crossed between two varieties, ‘Liuyuehua’ and ‘Datong Huanghua’ of Hemerocallis, was used to establish 715 F₁ individuals. Phenotypic data for eight floral traits, including scape number, bud number, scape length, scape diameter, bud length, bud diameter, fresh flower bud weight, and dry flower bud weight, were collected from 715 F₁ individuals over a three-year period (2022, 2023, and 2024). The Simple Repeat Sequence (SSR) markers were validated to genotype the 116 random F₁ individuals and to construct a linkage map. The intraspecific hybridization map contained 11 linkage groups. A total of 169 SSR markers were used to construct a linkage map, spanning a total map length of 1605.3 cM, with an average marker interval of 9.50 cM. The linkage map revealed 11 floral QTLs from 7.21% to 24.29% of phenotypic variation. Through collinearity analysis, it was found that 122 markers could be aligned to the published genome sequence of H. citrina. A total of five candidate genes for floral traits were predicted. The linkage map is essential for mapping and marker-assisted progeny selection that will accelerate the pace of nightlily breeding. Full article

Single-cell RNA sequencing (scRNA-seq) enables expression quantitative trait locus (eQTL) analysis at cellular resolution, offering new opportunities to uncover regulatory variants with cell-type-specific effects. However, existing tools are often limited in functionality, input compatibility, or scalability for sparse single-cell data. To address these challenges, we developed scQTLtools, a comprehensive R/Bioconductor package that facilitates end-to-end single-cell eQTL analysis, from preprocessing to visualization. The toolkit supports flexible input formats, including Seurat and SingleCellExperiment objects, handles both binary and three-class genotype encodings, and provides dedicated functions for gene expression normalization, SNP and gene filtering, eQTL mapping, and versatile result visualization. To accommodate diverse data characteristics, scQTLtools implements three statistical models—linear regression, Poisson regression, and zero-inflated negative binomial regression. We applied scQTLtools to scRNA-seq data from human acute myeloid leukemia and identified eQTLs with regulatory effects that varied across cell types. Visualization of SNP–gene pairs revealed both positive and negative associations between genotype and gene expression. These results demonstrate the ability of scQTLtools to uncover cell-type-specific regulatory variation that is often missed by bulk eQTL analyses. Currently, scQTLtools supports cis-eQTL mapping; future development will extend to include trans-eQTL detection. Overall, scQTLtools offers a robust, flexible, and user-friendly framework for dissecting genotype–expression relationships in heterogeneous cellular populations. Full article

Grain size is a crucial agronomic trait that significantly impacts yield potential in sorghum (Sorghum bicolor), making it a key focus for genetic improvement. In this study, we investigated the genetic basis of grain size variation using two contrasting sorghum accessions, PI302232 (small grain, Sg) and PI563512 (large grain, Lg). The 1000-grain weight, grain length, and grain width of Lg were 3.63-fold, 1.22-fold, and 1.65-fold higher than Sg, respectively. The 1000-grain weight in the F₂ segregating population derived from the cross Sg and Lg parents exhibited the highest phenotypic variation and followed a normal distribution in the three traits. Using bulked segregant analysis sequencing (BSA-seq) with small- and large-grain bulks from the F₂ population, two major quantitative trait loci (QTLs) for grain size were identified on chromosomes 1 and 3. Fine mapping with SSR markers narrowed the qGS1 locus to a 1.03 Mb region on chromosome 1 (Chr01: 22,001,448–23,035,593), containing 49 candidate genes. To narrow down potential candidate genes, transcriptome analysis of spike tissues from Sg and Lg at 0 and 14 days after heading revealed 3719 differentially expressed genes (DEGs), primarily enriched in “starch and sucrose metabolism” and “phenylpropanoid biosynthesis” pathways. Integrating fine mapping intervals and RNA-seq data, 6 DEGs were identified within the qGS1 region. Quantitative real-time PCR confirmed that 6 genes exhibited different expression at two stages. The expression and bioinformatics analysis showed Sobic.001G230700 was the most likely candidate gene for the qGS1 locus. This study provides new insights into the genetic regulation of grain size and a new target to improve grain size in sorghum. Full article

Grain yield establishment is a complex progress and the genetic basis of one of the most important yield components, 100-kernel weight, remains largely unknown. Here, we employed a double haploid (DH) population containing 477 lines which was developed from a cross of two maize elite inbred lines, PHBA6 and Chang7-2, to identify quantitative trait loci (QTL) that related to 100-kernel weight. The phenotypes of the DH population were acquired over three years in two different locations, while the DH lines were genotyped by next-generation sequencing technology of massively parallel 3ʹ end RNA sequencing (MP3RNA-seq). Eventually, 28,874 SNPs from 436 DH lines were preserved after SNP calling and filtering and a genetic map with a length of 837 cM was constructed. Then, single environment QTL analysis was performed using the R/qtl program, and it was found that a total of 17 QTLs related to 100-kernel weight were identified and distributed across the whole genome except chromosomes 5 and 6. The total phenotypic variation explained by QTLs detected in three different environments (BJ2016, BJ2107, and HN2018) was 22.2%, 32.9%, and 51.38%, respectively. Among these QTLs, three of them were identified across different environments as environmentally stable QTLs and explained more than 10% of the phenotypic variance each. Together, the results provided in this study preliminarily revealed the genetic basis of 100-kernel weight and will enhance molecular breeding for key agronomic kernel-related traits in maize. Full article

Dense planting and intercropping are the main ways to improve soybean production. However, both confront inter- and intra-crop shading stress. This leads to stem elongation, resulting in lodging and yield losses. Most previous studies have focused on the later growth stages for shade tolerance. However, it has been found that the seedling stage is crucial, and understanding the genetic basis of shade tolerance at this stage is pivotal for yield improvement. In this study, 310 soybean accessions were used to evaluate shade tolerance under greenhouse conditions. Plant height (PH), main stem length (MSL), and hypocotyl length (HL) were examined at seedling stage, and their treatment/control ratios (PH_r, MSL_r, HL_r) were used for genetic dissection of shade tolerance. Their overall phenotypic variation and heritability (H²) ranged 22.97–36.85% and 31.66–83.81%, respectively. RTM-GWAS identified 12, 10, and 6 QTLs associated with PH_r, MSL_r, and HL_r, respectively. Among these, Block_17_11907536_11926235 was associated with both PH_r and MSL_r, and Block_1_55630414_55715065 associated with the HL_r trait showed the highest contribution (R² = 10.38%). Additionally, seven promising candidate genes, primarily linked to ethylene-responsive transcription factors, were proposed, supported by their established roles in plant development and stress responses, as evidenced in prior studies. The germplasm, QTLs, and candidate genes identified in this study improve our understanding of shade tolerance and have the potential to accelerate the breeding of shade-resilient soybeans. Full article

Rapeseed (Brassica napus L., 2n = 38) is an important oil crop worldwide, providing vegetable oil and biofuel. Despite improvements in breeding, rapeseed’s harvest index and yield remain lower than other major crops. Plant height (PH) and first-branch height (FBH) are crucial plant architecture traits affecting yield, lodging resistance and efficiency of mechanical harvesting. Phenotypic analysis of 125 rapeseed accessions across four environments revealed wide variation in PH (100–198 cm) and FBH (15.56–112.4 cm), with high broad-sense heritability (H² = 81.59% for PH, 77.69% for FBH), and significant positive correlations between traits. To understand the genetic control of PH and FBH, a genome-wide association study (GWAS) of a natural population was conducted, covering 2,131,705 genome variants across four environments. The 13 QTLs for PH and 15 for FBH were identified. Meta-analysis revealed that 28.57% of these loci overlapped with previously reported QTLs. Haplotype analysis confirmed significant effects of these loci on the traits. Candidate genes for PH and FBH, respectively, were identified based on linkage disequilibrium and functional predictions. However, five novel loci lacked nearby annotated genes. The candidate genes are linked to traits in Arabidopsis and other species, as well as to phytohormone response and cell development, and cell development. Notably, MOS1 gene copies (BnaA03G0481200ZS and BnaC07G0459400ZS) were associated with PH and FBH, indicating their multifunctional potential. Additionally, BnaA05G0163200ZS, with no functional annotation, emerged as a crucial gene for plant architecture. This study provides new genetic insights and may enhance marker-based breeding for ideotypes in rapeseed. Full article

Stripe rust, caused by Puccinia striiformis f. sp. tritici (Pst), is a destructive disease of wheat worldwide. William Som (WS), an Argentinian spring wheat landrace, has consistently exhibited high-level resistance to stripe rust for over 20 years in our field evaluations in Washington state, USA. A previous study showed high-temperature adult-plant (HTAP) resistance in WS. To map the HTAP resistance quantitative trait loci (QTL) in WS, 114 F_5-8 recombinant inbred lines (RILs) from the cross AvS/WS were evaluated for their stripe rust response in seven field environments in Washington. The RILs and parents were genotyped with the Infinium 90K SNP chip. Four stable QTL, QYrWS.wgp-1BL on chromosome 1B (669–682 Mb), QyrWS.wgp-2AL on 2A (611–684 Mb), QyrWS.wgp-3AS on 3A (9–13 Mb), and QyrWS.wgp-3BL on 3B (476–535 Mb), were identified, and they explained 10.0–19.0%, 10.2–16.7%, 7.0–15.9%, and 12.0–27.8% of the phenotypic variation, respectively. The resistance in WS was found to be due to additive interactions of the four QTL. For each QTL, two Kompetitive allele-specific PCR (KASP) markers were developed, and these markers should facilitate the introgression of the HTAP resistance QTL into new wheat cultivars. Full article

Rice tillering is an important trait that is genetically and environmentally co-regulated. Nitorgen is one of the key nutrients affecting tillering, and straw return further affects tiller development by altering soil heterogeneity. In order to analyze the genetic regulation mechanism of rice tillering and its interactions with the environment, 124 recombinant inbred line (RIL) populations derived from two superior Peijiu lines, 9311 and PA64s, were used as materials in this study, and the dynamic tillering phenotypes were measured under three treatments (no nitrogen application, nitrogen application, and nitrogen + straw return) for two consecutive years. Using an existing genetic map, we conducted single-environment, multi-environment, and meta-QTL analyses to systematically identify tiller-related genetic loci and their environmental interactions. The main findings were as follows: (1) A total of 57 QTLs were identified in the single-environment QTL analysis, of which 44 were unreported new QTLs. Four QTLs showed temporal pleiotropy, ten QTLs contributed more than 10% to the phenotypes under the no-N treatment, and five QTLs contributed more than 10% under the straw return treatment. Among them, the phenotypic contribution of mks1-355 (qD1tn1-3) and mks1-352 (qD2TN1-2) both exceeded 40%. (2) Multi-environmental QTL analysis detected 15 QTLs. Of these, qmD1TN1 (mks1-356) showed no environmental interaction effect, while qmD1TN12 (mks12-267), qmD2TN1 (mks1-334), qmD2TN3-1 (mks3-105), and qmD5TN6 (mks6-71) exhibited antagonistic pleiotropy, suggesting that these QTL need to be considered for environmental specificity in breeding. (3) Meta-QTL analysis localized 52 MQTLs, of which MQTL3.1 and MQTL6.8 contained 82 and 59 candidate genes, respectively, and no reported tiller-related genes were found. (4) mks1-355 (qD1tn1-3), mks1-352 (qD2TN1-2), and mks1-356 (qmD1TN1) may be located in the same genetic locus, and their phenotypic contributions were more than 40%. These QTLs were detected stably for two consecutive years, and they may be the main effector QTLs in tillering that are less affected by the environment. Further analysis revealed that these QTLs corresponded to MQTL1.6, which contains 56 candidate genes. Of these, the expression level of OsSPL2 gene in the parental line 9311 was significantly higher than that of PA64s, and there were polymorphic differences in the coding region. It was hypothesized that OsSPL2 was the main effector gene of this QTL. This study provides important genetic resources for mining candidate genes related to tillering and nitrogen efficiency in rice and lays a theoretical foundation for directional breeding and molecular marker development in specific environments. Full article

The Multi-Parent Advanced Generation Inter-Cross (MAGIC) population is a powerful tool for dissecting the genetic architecture controlling natural variation in complex traits. In this work, the natural variation available in Arabidopsis thaliana MAGIC lines was evaluated by mapping quantitative trait loci (QTLs) for primary root length (PRL), lateral root number (LRN), lateral root length (LRL), adventitious root number (ARN), and adventitious root length (ARL). We analyzed the differences in the root structure of 139 MAGIC lines by measuring PRL, LRN, LRL, ARN, and ARL. Through QTL mapping, we identified new potential genes that may be responsible for these traits. Furthermore, we detected single-nucleotide polymorphisms (SNPs) in the coding regions of candidate genes in the founder accessions and the recombinant inbred lines (RILs). We identified a significant region on chromosome 1 associated with AR formation. This region encompasses 316 genes, many of which are involved in auxin and gibberellin signaling and homeostasis. We discovered SNPs in the coding regions of these candidate genes in the founder accessions that may contribute to natural variation in AR characteristics. Additionally, we found a novel gene that encodes a protein from the hydroxyproline-rich glycoprotein family, which exhibits differential SNPs in accessions with contrasting AR formation. This study provides genetic insights into the natural variation in AR numbers using MAGIC lines linked to hormone-related genes. Full article

Understanding how hybrids integrate lineage-specific regulatory variants at the haplotype level is crucial for elucidating the genetic basis of heterosis in livestock. In this study, we established three crossbred pig families derived from distant genetic lineages and systematically identified variants from different lineages, including single nucleotide polymorphisms (SNPs) and structural variations (SVs). At the phase level, we quantitatively analyzed gene expression, four histone modifications (H3K4me3, H3K27ac, H3K4me1, and H3K27me3), and the binding strength of transcription factor (CTCF) in backfat (BF) and longissimus dorsi (LD) muscle. By colocalization analysis of phased genetic variants with phased gene expression levels and with phased epigenetic modifications, we identified 18,670 expression quantitative trait loci (eQTL) (FDR < 0.05) and 8,652 epigenetic modification quantitative trait loci (epiQTL) (FDR < 0.05). The integration of eQTL and epiQTL allowed us to explore the potential regulatory mechanisms by which lineage-specific genetic variants simultaneously influence gene expression and epigenetic modifications. For example, we identified a Large White lineage-specific duplication (DUP) encompassing the KIT gene that was significantly associated with its promoter activity (FDR = 7.83 × 10⁻⁴) and expression levels (FDR = 9.03 × 10⁻⁴). Additionally, we found that a Duroc lineage-specific SNP located upstream of AMIGO2 was significantly associated with a Duroc-specific H3K27ac peak (FDR = 0.035) and also showed a significant association with AMIGO2 expression levels (FDR = 5.12 × 10⁻⁴). These findings underscore the importance of phased regulatory variants in shaping lineage-specific transcriptional programs and highlight how the haplotype-resolved integration of eQTL and epigenetic signals can reveal the mechanistic underpinnings of hybrid regulatory architecture. Our results offer insights for molecular marker development in precision pig breeding. Full article

Background: Autism spectrum disorder (ASD) involves complex interactions between genetic and environmental factors. Recent studies suggest that dysregulation of β-arrestin2 (Arrb2) in the central nervous system is linked to ASD. However, its specific mechanisms remain unknown. Methods: This study employs a systems genetics approach to comprehensively investigate Arrb2 in multiple brain tissues, including the amygdala, cerebellum, hippocampus, and prefrontal cortex, using BXD recombinant inbred (RI) strains. In addition, genetic variance analysis, correlation analysis, expression quantitative trait loci (eQTL) mapping, and functional annotation were used to identify the key downstream targets of Arrb2, validated by quantitative reverse transcription polymerase chain reaction (qRT-PCR) and Western blotting (WB). Results: Arrb2 exhibited expression variations across the four brain regions in BXD mice. eQTL mapping revealed that Arrb2 is cis-regulated, and increased Arrb2 expression levels were significantly correlated with ASD-like symptoms, such as impaired social interactions and abnormal learning and memory. Furthermore, protein–protein interaction (PPI) network analysis, tissue correlation, functional relevance to autism, and differential expression identified eight downstream candidate genes regulated by Arrb2. The experimental results demonstrated that deletion of Arrb2 led to the downregulation of Myh9, Dnmt1, and Brd4 expression, along with protein kinase A (PKA)-induced hyperactivation of Synapsin I. These findings suggest that Arrb2 may contribute to the pathogenesis of autism by modulating the expression of these genes. Conclusions: This study highlights the role of Arrb2 in ASD pathogenesis and identifies Myh9, Dnmt1, and Brd4 as key downstream regulators. These findings provide new insights into the molecular mechanisms of ASD and pave the way for novel therapeutic targets. Full article

In the selection of new horticultural crops varieties, fruit shape and size are key agronomic traits targeted by breeders, as well as critical criteria for commercial evaluation and grading. Wild germplasm resources typically exhibit greater genetic diversity in fruit morphology compared to cultivated varieties. The study analyzed fruit shape-related traits of 216 Actinidia eriantha plants from a wild population in Jiangxi Province, China, and identified significant associated single nucleotide polymorphisms (SNPs) and candidate genes for the target traits using genome-wide association analysis (GWAS). The results revealed substantial phenotypic variation in fruit shape- and size-related traits. A total of 115 SNPs and 349 putative coding genes were significantly associated with 7 fruit shape-related traits. Within the candidate genomic regions, we identified several key genes linked to specific morphological features, including F-box and MADS4, previously reported to influence fruit shape; WOX, F-box, and OVATE, associated with fruit shape index; RING-type E3 ubiquitin transferase, correlated with transverse diameter; and PLATZ, COL, and Aux/IAA, implicated in fruit weight regulation. These findings facilitate the precise identification of genes or quantitative trait loci (QTLs) governing fruit morphology. Furthermore, the associated SNP markers provide valuable tools for marker-assisted breeding, enabling the development of elite cultivars with desirable fruit characteristics. Full article