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Background: Soil salinization is one of the significant factors limiting high crop yields and expansion of arable land, seriously affecting global agricultural production. Rice is an essential food crop throughout the world, and its seedlings are particularly susceptible to salt stress, which can directly affect the growth and development of rice and its final yield. We used the natural population as the material for genome-wide association study (GWAS) and the recombinant inbred line (RIL) population from CD (salt sensitive)/WD20342 (salt tolerant) hybridization as the material for linkage analysis. Results: The degree of salt tolerance was evaluated by using the relative root length (RRL), relative root number (RRN), relative root fresh weight (RRFW), and relative root dry weight (RRDW) as indicators. Fifteen and six major quantitative trait loci (QTLs) were identified by GWAS and linkage analysis, respectively. Meanwhile, the GWAS identified the lead SNP (Chr2_22340368), which was located within qRRL2 and qRRDW2 identified by linkage analysis. GWAS, combined with linkage analysis, selected a 196-kb overlapping region on chromosome 2, including 22 candidate genes. LOC_Os02g36880 was discovered as the candidate gene involved in salt tolerance by haplotype analysis, qRT-PCR, and sequence analysis. The score of salinity toxicity (SST) and seedling survival rate (SSR) were determined for CRISPR/Cas9 mutants (CR-1 and CR-15) and wild-type (ZH11), respectively. Conclusion: The phenotypic validation indicated that LOC_Os02g36880 negatively regulated the salt tolerance at the seedling stage. This study provides resources for breeding Japonica rice to improve its response to salt stress. [ABSTRACT FROM AUTHOR]

Background: Inulin and inulin-derived fructooligosaccharides (FOS) are well-known prebiotics for use in companion animals and livestock. The mechanisms by which FOS contribute to health has not been fully established. Further, the fine chemistry of fructan structures from diverse sources, such as graminan-type fructans found in cereal crops, has not been fully elucidated. New methods to study fructan structure and microbial responses to these complex carbohydrates will be key for evaluating the prebiotic potency of cereal fructans found in cattle feeds. As the rumen microbiome composition is closely associated with their metabolic traits, such as feed utilization and waste production, prebiotics and probiotics represent promising additives to shift the microbial community toward a more productive state. Results: Within this study, inulin, levan, and graminan-type fructans from winter wheat, spring wheat, and barley were used to assess the capacity of rumen-derived Bifidobacterium boum, Bifidobacterium merycicum, and Lactobacillus vitulinus to metabolize diverse fructans. Graminan-type fructans were purified and structurally characterized from the stems and kernels of each plant. All three bacterial species grew on FOS, inulin, and cereal crop fructans in pure cultures. L. vitulinus was the only species that could metabolize levan, albeit its growth was delayed. Fluorescently labelled polysaccharides (FLAPS) were used to demonstrate interactions with Gram-positive bacteria and confirm fructan metabolism at the single-cell level; these results were in agreement with the individual growth profiles of each species. The prebiotic potential of inulin was further investigated within naïve rumen microbial communities, where increased relative abundance of Bifidobacterium and Lactobacillus species occurred in a dose-dependent and temporal-related manner. This was supported by in situ analysis of rumen microbiota from cattle fed inulin. FLAPS probe derived from inulin and fluorescent in situ hybridization using taxon-specific probes confirmed that inulin interacts with Bifidobacteria and Lactobacilli at the single-cell level. Conclusion: This research revealed that rumen-derived Bifidobacteria and Lactobacilli vary in their metabolism of structurally diverse fructans, and that inulin has limited prebiotic potential in the rumen. This knowledge establishes new methods for evaluating the prebiotic potential of fructans from diverse plant sources as prebiotic candidates for use in ruminants and other animals. [ABSTRACT FROM AUTHOR]

Abstract Background Inulin and inulin-derived fructooligosaccharides (FOS) are well-known prebiotics for use in companion animals and livestock. The mechanisms by which FOS contribute to health has not been fully established. Further, the fine chemistry of fructan structures from diverse sources, such as graminan-type fructans found in cereal crops, has not been fully elucidated. New methods to study fructan structure and microbial responses to these complex carbohydrates will be key for evaluating the prebiotic potency of cereal fructans found in cattle feeds. As the rumen microbiome composition is closely associated with their metabolic traits, such as feed utilization and waste production, prebiotics and probiotics represent promising additives to shift the microbial community toward a more productive state. Results Within this study, inulin, levan, and graminan-type fructans from winter wheat, spring wheat, and barley were used to assess the capacity of rumen-derived Bifidobacterium boum, Bifidobacterium merycicum, and Lactobacillus vitulinus to metabolize diverse fructans. Graminan-type fructans were purified and structurally characterized from the stems and kernels of each plant. All three bacterial species grew on FOS, inulin, and cereal crop fructans in pure cultures. L. vitulinus was the only species that could metabolize levan, albeit its growth was delayed. Fluorescently labelled polysaccharides (FLAPS) were used to demonstrate interactions with Gram-positive bacteria and confirm fructan metabolism at the single-cell level; these results were in agreement with the individual growth profiles of each species. The prebiotic potential of inulin was further investigated within naïve rumen microbial communities, where increased relative abundance of Bifidobacterium and Lactobacillus species occurred in a dose-dependent and temporal-related manner. This was supported by in situ analysis of rumen microbiota from cattle fed inulin. FLAPS probe derived from inulin and fluorescent in situ hybridization using taxon-specific probes confirmed that inulin interacts with Bifidobacteria and Lactobacilli at the single-cell level. Conclusion This research revealed that rumen-derived Bifidobacteria and Lactobacilli vary in their metabolism of structurally diverse fructans, and that inulin has limited prebiotic potential in the rumen. This knowledge establishes new methods for evaluating the prebiotic potential of fructans from diverse plant sources as prebiotic candidates for use in ruminants and other animals.

Abstract Enhlink is a computational tool for scATAC-seq data analysis, facilitating precise interrogation of enhancer function at the single-cell level. It employs an ensemble approach incorporating technical and biological covariates to infer condition-specific regulatory DNA linkages. Enhlink can integrate multi-omic data for enhanced specificity, when available. Evaluation with simulated and real data, including multi-omic datasets from the mouse striatum and novel promoter capture Hi-C data, demonstrate that Enhlink outperfoms alternative methods. Coupled with eQTL analysis, it identified a putative super-enhancer in striatal neurons. Overall, Enhlink offers accuracy, power, and potential for revealing novel biological insights in gene regulation.

Barley (Hordeum vulgare L.) is the fourth largest cereal crop in the world after rice, wheat and maize. Barley yellow mosaic disease (BYMD) is a serious threat to winter barley production. The evolution and mutation of virus strains lead to the breakdown of the resistance of the originally resistant varieties. It is therefore vital to explore new BYMD resistance genes. In this study, a natural population (334 barley varieties or lines) and a double haploid population derived from the cross between Tam407227 and Franklin were used to search for new quantitative trait loci (QTL) for BYMD resistance. Two major QTL on chromosomes 3H and 7H, respectively, were detected from the genome wide association study and validated in the DH population. Among them, The QTL on 3H (qRYM-3H/qTFRYM-3H) was confirmed to be the reported BYMD resistance gene eIF4E by haplotype analysis. And the QTL on 7H (qRYM-7H/qTFRYM-7H) is a novel QTL that has not been reported before. Another QTL on 2H was identified from the DH population. This QTL is more likely the Rmy16Hb reported previously. These three QTL showed an additive effect on improving BYMD resistance with the average disease scores from 2.45 (all sensitive alleles for these three QTL) to 0.62 (all tolerant alleles for these three QTL). The candidate genes for the novel QTL qRYM-7H/qTFRYM-7H were predicted based on transcriptome sequencing and qPCR analysis.Key message: A novel QTL qRYM-7H/qTFRYM-7H for barley yellow mosaic resistance was identified by GWAS and linkage analysis, and the candidate genes for qRYM-7H/qTFRYM-7H were predicted based on transcriptome sequencing and qPCR analysis. [ABSTRACT FROM AUTHOR]

The utilization of saline land is a global challenge, and cultivating salt-tolerant soybean varieties is beneficial for improving the efficiency of saline land utilization. Exploring the genetic basis of salt-tolerant soybean varieties and developing salt-tolerant molecular markers can effectively promote the process of soybean salt-tolerant breeding. In the study, the membership function method was used to evaluate seven traits related to salt tolerance and comprehensive salt tolerance at the soybean seedling stage; genome-wide association analysis (GWAS) was performed in a natural population containing 200 soybean materials; and linkage analysis was performed in 112 recombinant inbred lines (RIL) population to detect quantitative trait loci (QTLs) of salt tolerance. In the GWAS, 147 SNPs were mapped, explaining 5.28–17.16% of phenotypic variation. In the linkage analysis, 10 QTLs were identified, which could explain 6.9–16.16% of phenotypic variation. And it was found that there were two co-located regions between the natural population and the RIL population, containing seven candidate genes of salt tolerance in soybean. In addition, one colocalization interval was found to contain qZJS-15-1, rs47665107, and rs4793412, all of which could explain more than 10% of phenotypic variation rates, making it suitable for molecular marker development. The physical positions of rs47665107 and rs47934112 were included in qZJS-15-1. Therefore, a KASP marker was designed and developed using Chr. 15:47907445, which was closely linked to the qZJS-15-1. This marker could accurately and clearly cluster the materials of salt-tolerant genotypes in the heterozygous population tested. The QTLs and KASP markers found in the study provide a theoretical and technical basis for accelerating the salt-tolerant breeding of soybean. [ABSTRACT FROM AUTHOR]

Summary: Carotenoids are indispensable to plants and critical components of the human diet. The carotenoid metabolic pathway is conserved across plant species, but our understanding of the genetic basis of carotenoid variation remains limited for the seeds of most cereal crops. To address this issue, we systematically performed linkage and association mapping for eight carotenoid traits using six recombinant inbred line (RIL) populations. Single linkage mapping (SLM) and joint linkage mapping (JLM) identified 77 unique additive QTLs and 104 pairs of epistatic QTLs. Among these QTLs, we identified 22 overlapping hotspots of additive and epistatic loci, highlighting the important contributions of some QTLs to carotenoid levels through additive or epistatic mechanisms. A genome‐wide association study based on all RILs detected 244 candidate genes significantly associated with carotenoid traits, 23 of which were annotated as carotenoid pathway genes. Effect comparisons suggested that a small number of loci linked to pathway genes have substantial effects on carotenoid variation in our tested populations, but many loci not associated with pathway genes also make important contributions to carotenoid variation. We identified ZmPTOX as the causal gene for a QTL hotspot (Q10/JLM10/GWAS019); this gene encodes a putative plastid terminal oxidase that produces plastoquinone‐9 used by two enzymes in the carotenoid pathway. Natural variants in the promoter and second exon of ZmPTOX were found to alter carotenoid levels. This comprehensive assessment of the genetic mechanisms underlying carotenoid variation establishes a foundation for rewiring carotenoid metabolism and accumulation for efficient carotenoid biofortification. [ABSTRACT FROM AUTHOR]

Amaranthus (Amaranthus spp.) is one of the crops considered superfoods, given that this grain is enriched for minerals, protein, and vitamins. Most cultivars of this species exhibit seed-shattering, resulting in a reduction in seed yield, but it is expected that this undesirable trait can be improved by further breeding. However, the genetic mechanism of seed-shattering in this organism remains largely unknown. In the present study, we compared two amaranthus isolates, the A. cruentus grain cultivar 'New Aztec' (NA) (which exhibits seed-shattering) and Amaranthus spp. Accession DB9350 (DB) (which lacks seed-shattering). In initial experiments, we conducted morphological observations of the spikelets and utricles in these two strains. NA, and not DB, showed a horizontal dehiscence line on the utricle, resulting in easy detachment of the upper part of the pericarp and seed release. Next, we investigated the presence or absence of seed-shattering in the F1 and F2 progeny of an NA×DB cross. Notably, all F1 plants (n=10) showed shattering traits. In contrast, F2 plants (n = 106) exhibited segregation, yielding 82 and 24 plants showing shattering and non-shattering traits (respectively), consistent with the segregation ratio expected for Mendelian inheritance (3:1, χ2 = 0.314, p = 0.575). To elucidate the genetics of this trait, we performed bulked segregant analysis and linkage analysis in the F2 progeny. This analysis identified a locus, designated Acsh, in the 15.2–16.0 Mbp range of Chromosome 2B; the genotype at this locus co-segregated with the seed-shattering phenotype. Together, these data demonstrated that the seed-shattering trait in A. cruentus is a dominant, single-gene, qualitative trait regulated by Acsh. These results are expected to facilitate the breeding of non-shattering cultivars in grain amaranthus. [ABSTRACT FROM AUTHOR]

Many traits play essential roles in determining crop yield. Wide variation for morphological traits exists in Hordeum vulgare L., but the genetic basis of this morphological variation is largely unknown. To understand genetic basis controlling morphological traits affecting yield, a barley doubled haploid population (146 individuals) derived from Clipper X Sahara 3771 was used to map chromosome regions underlying days to awn appearance, plant height, fertile spike number, flag leaf length, spike length, harvest index, seed number per plant, thousands kernel weight, and grain yield. Twentyseven QTLs for nine traits were mapped to the barley genome that described 3-69% of phenotypic variations; and some genomic regions harbor a given QTL for more than one trait. Out of 27 QTLs identified, 19 QTLs were novel. Chromosomal regions on 1H, 2H, 4H, and 6H associated with seed grain yield, and chromosome regions on 2H and 6H had major effects on grain yield (GY). One major QTL for seed number per plant was flanked by marker VRS1-KSUF15 on chromosome 2H. This QTL was also associated with GY. Some loci controlling thousands kernel weight (TKW), fertile spike number (FSN), and GY were the same. The major grain yield QTL detected on linkage PSR167 co-localized with TAM10. Two major QTLs controlling TKW and FSN were also mapped at this locus. Eight QTLs on chromosomes 1H, 2H, 3H, 4H, 5H, 6H, and 7H consistently affected spike characteristics. One major QTL (ANIONT1A-TACMD) on 4H affected both spike length (SL) and spike number explained 9 and 5% of the variation of SL and FSN, respectively. In conclusion, this study could cast some light on the genetic basis of the studied pivotal traits. Moreover, fine mapping of the identified major effect markers may facilitate the application of molecular markers in barley breeding programs. [ABSTRACT FROM AUTHOR]

Based on the multi-regional input-output model, the key industrial chains of energy-food coupling in 10 provinces in the Yangtze River basin are identified through an integrated nexus strength metric, linkage analysis, and net flow analysis. The results show that: (1) In terms of energy consumption, most sectors in the Yangtze River Basin play the role of consumers in energy consumption, and their energy consumption is mainly used to satisfy their own production and development needs. (2) In terms of food consumption, the 01 Agriculture, Forestry, Animal Husbandry, and Fishery, the 04 Textile Industry, the 09 Manufacture of Chemical Products, the 11 Smelting and Processing of Metals, and the 20 Production and Distribution of Electric Power and Heat Power mainly play the role of suppliers in the Yangtze River Basin, and the remaining sectors whose food consumption is used to meet their own production and development needs are the main consumers of food in the basin. (3) The Manufacture of Chemical Products in Jiangsu, the Construction in Sichuan, the Food and Tobacco Processing in Jiangxi, Hunan, and Sichuan, and the Production and Distribution of Electric Power and Heat Power in each region constitute the key industrial chain of energy-food coupling in the Yangtze River basin. [ABSTRACT FROM AUTHOR]

Previous research has demonstrated that both visibility of parties, party leaders, candidates, and topics, and the sentiment of this coverage can affect people's decision in the ballot box. Most of this research was, however, done in the period before social media gained importance which has drastically changed the media consumption of citizens. The main aim of this paper is to investigate whether, and if so to what extent, traditional media use during the 2021 Dutch parliamentary elections has (still) affected vote choice in this era of social media. To study this, two-wave panel survey data from the Dutch Parliamentary Election Survey (DPES) are combined with an automated content analysis of newspaper articles (N = 35,511). We created respondent-specific content variables to conduct a linkage analysis. Our analysis, relying on a pooled analysis of respondent–party combinations (N = 54,162), demonstrates that political parties profit electorally from being visible in both newspapers and online outlets. This is in particular true for parties that are not part of parliament yet, thus increasing the further fragmentation and division in Dutch politics. Contrary to the expectations, sentiment in online media has a negative effect, with negative coverage increasing electoral support. [ABSTRACT FROM AUTHOR]

Objective : To explore disease-related mutations and its effect on disease in the population through high-throughput gene screening of the members of an early-onset Parkinson's disease (EOPD) genetic family. Methods : SNP microarray and whole exon sequencing (WES) were performed in 19 members of early-onset PD genetic families. Moreover, the sequencing of 58 sporadic patients was verified to screen out mutation genes with high risk. Results : Linkage analysis found 3 chromosome regions, and WES and coexpression analysis screened out 24 genes that may be associated with PD. The Spearman correlation coefficient R>0.6 and P<0.05 between five loci genotype and disease outcome indicated that there was a correlation. Conclusion : Through multilevel mutation .site .screening analysis in clinical patients, we find that five mutant genes Pdxdcl, Ddx56, Aspn, Rbm28 and Shisa9 in exon region may be closely associated with PD. More functional research will be conducted in the future. [ABSTRACT FROM AUTHOR]

BackgroundSoil salinization is one of the significant factors limiting high crop yields and expansion of arable land, seriously affecting global agricultural production. Rice is an essential food crop throughout the world, and its seedlings are particularly susceptible to salt stress, which can directly affect the growth and development of rice and its final yield. We used the natural population as the material for genome-wide association study (GWAS) and the recombinant inbred line (RIL) population from CD (salt sensitive)/WD20342 (salt tolerant) hybridization as the material for linkage analysis.ResultsThe degree of salt tolerance was evaluated by using the relative root length (RRL), relative root number (RRN), relative root fresh weight (RRFW), and relative root dry weight (RRDW) as indicators. Fifteen and six major quantitative trait loci (QTLs) were identified by GWAS and linkage analysis, respectively. Meanwhile, the GWAS identified the lead SNP (Chr2_22340368), which was located within qRRL2 and qRRDW2 identified by linkage analysis. GWAS, combined with linkage analysis, selected a 196-kb overlapping region on chromosome 2, including 22 candidate genes. LOC_Os02g36880 was discovered as the candidate gene involved in salt tolerance by haplotype analysis, qRT-PCR, and sequence analysis. The score of salinity toxicity (SST) and seedling survival rate (SSR) were determined for CRISPR/Cas9 mutants (CR-1 and CR-15) and wild-type (ZH11), respectively.ConclusionThe phenotypic validation indicated that LOC_Os02g36880 negatively regulated the salt tolerance at the seedling stage. This study provides resources for breeding Japonica rice to improve its response to salt stress.

Introduction: Neurodevelopmental disorders (NDDs) refer to a broad range of diseases including developmental delay, intellectual disability, epilepsy, autism spectrum disorders, and attention-deficit/hyperactivity disorder caused by dysfunctions in tightly controlled brain development. The genetic backgrounds of NDDs are quite heterogeneous; to date, recessive or dominant variations in numerous genes have been implicated. Herein, we present a large consanguineous family from Turkiye, who has been suffering from NDDs with two distinct clinical presentations. Methods and results: Combined in-depth genetic approaches led us to identify a homozygous frameshift variant in NALCN related to NDD and expansion of dodecamer repeat in CSTB related to Unverricht-Lundborg disease (ULD). Additionally, we sought to functionally analyze the NALCN variant in terms of mRNA expression level and current alteration. We have both detected a decrease in the level of premature stop codon-bearing mRNA possibly through nonsense-mediated mRNA decay mechanism and also an increased current in patch-clamp recordings for the expressed truncated protein. Conclusion: In conclusion, increased consanguinity may lead to the revealing of distinct rare neurogenetic diseases in a single family. Exome sequencing is generally considered the first-tier diagnostic test in individuals with NDD. Yet we underline the fact that customized approaches other than exome sequencing may be used as in the case of ULD to aid diagnosis and better genetic counseling. [ABSTRACT FROM AUTHOR]

SUMMARY: Stalk lodging is a severe problem that limits maize production worldwide, although little attention has been given to its genetic basis. Here we measured rind penetrometer resistance (RPR), an effective index for stalk lodging, in a multi‐parent population of 1948 recombinant inbred lines (RILs) and an association population of 508 inbred lines (AMP508). Linkage and association mapping identified 53 and 29 single quantitative trait loci (QTLs) and 50 and 19 pairs of epistatic interactions for RPR in the multi‐parent population and AMP508 population, respectively. Phenotypic variation explained by all identified epistatic QTLs (up to ~5%) was much less than that explained by all single additive QTLs (up to ~33% in the multi‐parent population and ~ 60% in the AMP508 population). Among all detected QTLs, only eight single QTLs explained >10% of phenotypic variation in single RIL populations. Alleles that increased RPR were enriched in tropical/subtropical (TST) groups from the AMP508 population. Based on genome‐wide association studies in both populations, we identified 137 candidate genes affecting RPR, which were assigned to multiple biological processes, such as the biosynthesis of cell wall components. Sixty‐six candidate genes were cross‐validated by multiple methods or populations. Most importantly, 23 candidate genes were upregulated or downregulated in high‐RPR lines relative to low‐RPR lines, supporting the associations between candidate genes and RPR. These findings reveal the complex nature of the genetic basis underlying RPR and provide loci or candidate genes for developing elite varieties that are resistant to stalk lodging via molecular breeding. Significance Statement: Linkage and association mapping in multi‐parent and diverse natural populations revealed that a few large‐effect QTLs and many small‐effect QTLs contribute to the complex nature of maize stalk strength and provide loci or candidate genes for developing elite varieties with stalk lodging resistance via molecular breeding. [ABSTRACT FROM AUTHOR]

Immunoglobulin A (IgA) nephropathy (IgAN), the most common form of glomerulonephritis, is one of the leading causes of end-stage kidney disease (ESKD). It is widely believed that genetic factors play a significant role in the development of IgAN. Previous studies of IgAN have provided important insights to unravel the genetic architecture of IgAN and its potential pathogenic mechanisms. The genome-wide association studies (GWASs) together have identified over 30 risk loci for IgAN, which emphasizes the importance of IgA production and regulation in the pathogenesis of IgAN. Follow-up fine-mapping studies help to elucidate the candidate causal variant and the potential pathogenic molecular pathway and provide new potential therapeutic targets. With the rapid development of next-generation sequencing technologies, linkage studies based on whole-genome sequencing (WGS)/whole-exome sequencing (WES) also identify rare variants associated with IgAN, accounting for some of the missing heritability. The complexity of pathogenesis and phenotypic variability may be better understood by integrating genetics, epigenetics, and environment. We have compiled a review summarizing the latest advancements in genetic studies on IgAN. We similarly summarized relevant studies examining the involvement of epigenetics in the pathogenesis of IgAN. Future directions and challenges in this field are also proposed. [ABSTRACT FROM AUTHOR]

Introduction: Joint linkage and association (JLA) analysis combines two disease gene mapping strategies: linkage information contained in families and association information contained in populations. Such a JLA analysis can increase mapping power, especially when the evidence for both linkage and association is low to moderate. Similarly, an association analysis based on haplotypes instead of single markers can increase mapping power when the association pattern is complex. Methods: In this paper, we present an extension to the GENEHUNTER-MODSCORE software package that enables a JLA analysis based on haplotypes and uses information from arbitrary pedigree types and unrelated individuals. Our new JLA method is an extension of the MOD score approach for linkage analysis, which allows the estimation of trait-model and linkage disequilibrium (LD) parameters, i.e., penetrance, disease-allele frequency, and haplotype frequencies. LD is modeled between alleles at a single diallelic disease locus and up to three diallelic test markers. Linkage information is contributed by additional multi-allelic flanking markers. We investigated the statistical properties of our JLA implementation using extensive simulations, and we compared our approach to another commonly used single-marker JLA test. To demonstrate the applicability of our new method in practice, we analyzed pedigree data from the German National Case Collection for Familial Pancreatic Cancer (FaPaCa). Results: Based on the simulated data, we demonstrated the validity of our JLA-MOD score analysis implementation and identified scenarios in which haplotype-based tests outperformed the single-marker test. The estimated trait-model and LD parameters were in good accordance with the simulated values. Our method outperformed another commonly used JLA single-marker test when the LD pattern was complex. The exploratory analysis of the FaPaCa families led to the identification of a promising genetic region on chromosome 22q13.33, which can serve as a starting point for future mutation analysis and molecular research in pancreatic cancer. Conclusion: Our newly proposed JLA-MOD score method proves to be a valuable gene mapping and characterization tool, especially when either linkage or association information alone provide insufficient power to identify the disease-causing genetic variants. [ABSTRACT FROM AUTHOR]

Greenbug (Schizaphis graminum, Rondani) is a serious insect pest in many wheat growing regions and has been infesting cereal crops in the USA for over a century. Continuous occurrence of new greenbug biotypes makes it essential to explore all greenbug resistant sources available to manage this pest. Gb1, a recessive greenbug resistance gene in DS28A, confers resistance to several economically important greenbug biotypes and is the only gene found to be resistant to greenbug biotype F. A set of 174 F2:3 lines from the cross DS28A × Custer was evaluated for resistance to greenbug biotype F in 2020 and 2022. Selective genotyping of the corresponding F2 population using single nucleotide polymorphism (SNP) markers generated by genotyping-by-sequencing (GBS) led to the identification of a candidate genomic region for Gb1. Thus, SSR markers previously mapped in this region were used to genotype the entire F2 population, and kompetitive allele specific PCR (KASP) markers were also developed from SNPs in the target region. Gb1 was placed in the terminal region of the short arm of chromosome 1A, and its location was confirmed in a second population derived from the cross DS28A × PI 697274. The combined data analysis from the two mapping populations delimited Gb1 to a

The utilization of saline land is a global challenge, and cultivating salt-tolerant soybean varieties is beneficial for improving the efficiency of saline land utilization. Exploring the genetic basis of salt-tolerant soybean varieties and developing salt-tolerant molecular markers can effectively promote the process of soybean salt-tolerant breeding. In the study, the membership function method was used to evaluate seven traits related to salt tolerance and comprehensive salt tolerance at the soybean seedling stage; genome-wide association analysis (GWAS) was performed in a natural population containing 200 soybean materials; and linkage analysis was performed in 112 recombinant inbred lines (RIL) population to detect quantitative trait loci (QTLs) of salt tolerance. In the GWAS, 147 SNPs were mapped, explaining 5.28–17.16% of phenotypic variation. In the linkage analysis, 10 QTLs were identified, which could explain 6.9–16.16% of phenotypic variation. And it was found that there were two co-located regions between the natural population and the RIL population, containing seven candidate genes of salt tolerance in soybean. In addition, one colocalization interval was found to contain qZJS-15-1, rs47665107, and rs4793412, all of which could explain more than 10% of phenotypic variation rates, making it suitable for molecular marker development. The physical positions of rs47665107 and rs47934112 were included in qZJS-15-1. Therefore, a KASP marker was designed and developed using Chr. 15:47907445, which was closely linked to the qZJS-15-1. This marker could accurately and clearly cluster the materials of salt-tolerant genotypes in the heterozygous population tested. The QTLs and KASP markers found in the study provide a theoretical and technical basis for accelerating the salt-tolerant breeding of soybean.

Melon (Cucumis melo L.) is an economically important Cucurbitaceae crop grown around the globe. The sweetness of melon is a significant factor in fruit quality and consumer appeal, and the soluble solids content (SSC) is a key index of melon sweetness. In this study, 146 recombinant inbred lines (RILs) derived from two oriental melon materials with different levels of sweetness containing 1427 bin markers, and 213 melon accessions containing 1,681,775 single nucleotide polymorphism (SNP) markers were used to identify genomic regions influencing SSC. Linkage mapping detected 10 quantitative trait loci (QTLs) distributed on six chromosomes, seven of which were overlapped with the reported QTLs. A total of 211 significant SNPs were identified by genome-wide association study (GWAS), 138 of which overlapped with the reported QTLs. Two new stable, co-localized regions on chromosome 3 were identified by QTL mapping and GWAS across multiple environments, which explained large phenotypic variance. Five candidate genes related to SSC were identified by QTL mapping, GWAS, and qRT-PCR, two of which were involved in hydrolysis of raffinose and sucrose located in the new stable loci. The other three candidate genes were involved in raffinose synthesis, sugar transport, and production of substrate for sugar synthesis. The genomic regions and candidate genes will be helpful for molecular breeding programs and elucidating the mechanisms of sugar accumulation.

In this paper, we first study the ARMA model and its derivative models, smooth the non-stationary time series by order difference, and estimate the coefficients of the ARMA model by the method of moment estimation. Then, hypothesis testing is conducted based on serial correlation of the relationship between corporate business administration and organizational effectiveness. In the process of hypothesis testing, the empirical likelihood method is used to test the serial correlation of the residual terms under weak hypotheses, which is then extended to apply to the test case where the residual terms contain finite and infinite variances. Finally, based on the model, we assessed the level of business administration and organizational effectiveness of Enterprise H, explored the correlation between the two, and analyzed the linkage effect between business administration and organizational effectiveness. The results show that there is a significant positive correlation between the dimensions of business administration and organizational effectiveness of enterprises, r=0.754-0.864, P

ABSTRACTAutophagy contributes to innate immunity by targeting intracellular pathogens for elimination. Previous studies identified a non-canonical autophagy pathway that controls Toxoplasma gondii infection in a strain-dependent manner in interferon gamma-activated human cells. Ubiquitination of unknown targets recruits adaptors and LC3 to the parasitophorous vacuole, leading to membrane envelopment and stunted growth. Vacuoles containing strain types II and III are susceptible, while type I strains of T. gondii are largely resistant and hence avoid autophagy-mediated growth restriction. Here we interrogated the genetic differences in LC3 recruitment between a resistant type I (GT1) strain and a susceptible type III (CTG) strain of T. gondii. We took advantage of a previous genetic cross between these two strains to determine the LC3 recruitment phenotype of 34 unique progeny clones. Genetic linkage mapping revealed that LC3 recruitment was highly multigenic, depending on two major quantitative trait loci (QTLs) on chromosome II and VIII, as well as three minor contributing loci. Ubiquitin affinity capture followed by mass spectrometry identified several potential targets exposed at the surface of the parasitophorous vacuole, including several candidates within the major QTLs. We tested several candidates and identified the dense granule proteins MAF1 on chromosome II, and MAG1 and PSD1 on chromosome VIII, as being partially responsible for susceptibility to LC3 recruitment. Differential susceptibility is likely due to strain-specific differences in recognition of parasite molecules, rather than actively blocking recognition, thus revealing a new mechanism for cell-autonomous restriction of intracellular pathogens.IMPORTANCEAutophagy is a process used by cells to recycle organelles and macromolecules and to eliminate intracellular pathogens. Previous studies have shown that some stains of Toxoplasma gondii are resistant to autophagy-dependent growth restriction, while others are highly susceptible. Although it is known that autophagy-mediated control requires activation by interferon gamma, the basis for why parasite strains differ in their susceptibility is unknown. Our findings indicate that susceptibility involves at least five unlinked parasite genes on different chromosomes, including several secretory proteins targeted to the parasite-containing vacuole and exposed to the host cell cytosol. Our findings reveal that susceptibility to autophagy-mediated growth restriction relies on differential recognition of parasite proteins exposed at the host-pathogen interface, thus identifying a new mechanism for cell-autonomous control of intracellular pathogens.

Simple Summary: Atrial fibrillation (AF), the most prevalent sustained dysrhythmia, is accountable for substantial mortality and morbidity. Accumulating convincing evidence highlights the predominant roles of heritable components in the initiation and maintenance of AF. Here, through pan-genomic genotyping with genetic markers followed by a genetic linkage study in an AF family, a novel AF-causing locus was located at human chromosome 7p14.2–p14.3. An exome-wide sequence assay unveiled that, at the defined locus, the mutation in TBX20, NM_001077653.2: c.695A>G; p.(His232Arg), was solely co-segregated with AF in the family. Additionally, a Sanger sequencing assay of TBX20 in another AF family uncovered a novel mutation, NM_001077653.2: c.862G>C; p.(Asp288His). Neither of the two mutations were found in 600 control persons. Functional investigations demonstrated that the two mutations both significantly reduced the transactivation of the target gene KCNH2 and the ability to bind the promoter of KCNH2, while they had no effect on the nuclear distribution of TBX20. These findings strongly indicate that TBX20 is a new AF-predisposing gene, shedding light on the mechanism underlying AF and suggesting clinical significance for the individually tailored treatment of AF. Atrial fibrillation (AF), the most prevalent type of sustained cardiac dysrhythmia globally, confers strikingly enhanced risks for cognitive dysfunction, stroke, chronic cardiac failure, and sudden cardiovascular demise. Aggregating studies underscore the crucial roles of inherited determinants in the occurrence and perpetuation of AF. However, due to conspicuous genetic heterogeneity, the inherited defects accounting for AF remain largely indefinite. Here, via whole-genome genotyping with genetic markers and a linkage assay in a family suffering from AF, a new AF-causative locus was located at human chromosome 7p14.2-p14.3, a ~4.89 cM (~4.43-Mb) interval between the markers D7S526 and D7S2250. An exome-wide sequencing assay unveiled that, at the defined locus, the mutation in the TBX20 gene, NM_001077653.2: c.695A>G; p.(His232Arg), was solely co-segregated with AF in the family. Additionally, a Sanger sequencing assay of TBX20 in another family suffering from AF uncovered a novel mutation, NM_001077653.2: c.862G>C; p.(Asp288His). Neither of the two mutations were observed in 600 unrelated control individuals. Functional investigations demonstrated that the two mutations both significantly reduced the transactivation of the target gene KCNH2 (a well-established AF-causing gene) and the ability to bind the promoter of KCNH2, while they had no effect on the nuclear distribution of TBX20. Conclusively, these findings reveal a new AF-causative locus at human chromosome 7p14.2-p14.3 and strongly indicate TBX20 as a novel AF-predisposing gene, shedding light on the mechanism underlying AF and suggesting clinical significance for the allele-specific treatment of AF patients. [ABSTRACT FROM AUTHOR]

Carbohydrates play essential roles in a variety of biological processes that are dictated by their structures. However, characterization of carbohydrate structures remains extremely difficult and generally unsolved. In this work, a de novo mass spectrometry-based workflow was developed to isolate and structurally elucidate oligosaccharides to provide sequence, monosaccharide compositions, and glycosidic linkage positions. The approach employs liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based methods in a 3-dimensional concept: one high performance liquid chromatography-quadrupole time-of-flight mass spectrometry (HPLC-QTOF MS) analysis for oligosaccharide sequencing and two ultra high performance liquid chromatography-triple quadrupole mass spectrometry (UHPLC-QqQ MS) analyses on fractionated oligosaccharides to determine their monosaccharides and linkages compositions. The workflow was validated by applying the procedure to maltooligosaccharide standards. The approach was then used to determine the structures of oligosaccharides derived from polysaccharide standards and whole food products. The integrated LC-MS workflow will reveal the in-depth structures of oligosaccharides.

The effective use of high-quality and high-yielding germplasm resources is of great importance for the development of hulless barley varieties. Therefore, the search for such resources has long been a goal of the breeding community. In this study, a genotyping-by-sequencing (GBS) analysis was performed on an F2 (Nierumuzha × Kunlun 10) population. A high-density genetic map of hulless barley was constructed, which contained 1 475 efficient single-nucleotide polymorphism markers with 7 052 bin markers. The total length of the seven chromosomes was 1 139.4 cM, with an average marker distance of 0.59 cM. Based on this high-density linkage map, a total of 54 quantitative trait loci (QTLs) related to the seed traits were detected, including seed colour (SC), thousand kernel weight (TKW), seed average area (SAA), seed perimeter (SP), seed length (SL), seed width (SW), seed length/width (SLW), seed diameter (SD), and seed circular degree (SCD). These QTLs explained 3.32-35.73% (mean = 11.45%) of the phenotypic interpretation, including 24 main QTLs and 30 epistatic QTLs. A total of 24 candidate genes were identified within the QTL region, including one SC-associated transcription factor (ANT1), two TSW-related genes, a transcription factor (NAC021), a gene associated with the non-homologous end joining (NHEJ) pathway (ku70), three SAA-associated genes (LOL2, NAC021, TSK), two SL-associated genes (MADS21, MADS4), six SW-associated genes (FIP1, NAC021, DREB 1A, HVA22A, CYP78A6, SAUR71), five LW-related genes (NAM-B2, CRY1, LHY, CYP710A1, WRKY72), two SP-related genes (SKIP11, TCP18), two SD-related genes (NAC021, SKIP8), and three SCD-related genes (MYB1R1, RAX3, NAC100). These genes are involved in the regulation of the cell development, material transport, signal transduction, and plant morphogenesis and play an important role in the regulation of agronomic traits in hulless barley. The high-density genetic mapping and QTL identification of the seed traits in hulless barley provide a valuable genetic resource and the basis for further molecular marker-assisted selection and genomic studies.

Neurodevelopmental disorders (NDDs) have broad heterogeneity both clinically and genetically. Inborn errors of metabolism can be one of the reasons of neurodevelopmental disruption causing specific NDDs. Although there is tremendous advance in molecular identification via next-generation sequencing (NGS), there are still many unsolved patients with NDD. Reanalysis of NGS data with different pipelines can at least partially accomplish this challenge. Herein, we report clinic and genetic components of an adult sib-pair with an undiagnosed NDD condition, which has been solved through reanalysis of whole-exome sequencing (WES). Parallel analysis of SNP-based genotyping and WES was performed to focus on variants only in loci with positive logarithm of the odds scores. WES data was analyzed through three different pipelines with two distinct bed files. Reanalysis of WES data led us to detect a homozygous FOLR1 variant (ENST00000393676.5:c.610C > T, p.(Arg204Ter), rs952165627) in the affected sib-pair. Surprisingly, the variant could not be detected in the first analysis as the variant region is not included in the first bed file which may frequently be used. Biochemical tests of CSF have confirmed the genetic analysis, CSF folic acid levels were detected low in sib-pair, and intravenous folinic acid treatment improved the disease course for the first 6 months of follow-up even at late diagnosis age. Although combined analysis of SNP-based genotyping and WES is a powerful tool to reveal the genetic components of heterogeneous diseases, reanalysis of genome data still should be considered in unsolved patients. Also, biochemical screening helps us to decipher undiagnosed NDD that may be a treatable neurometabolic condition. [ABSTRACT FROM AUTHOR]

Long-read sequencing offers a great improvement in the assembly of complex genomic regions, such as the major histocompatibility complex (MHC) region, which can contain both tandemly duplicated MHC genes (paralogs) and high repeat content. The MHC genes have expanded in passerine birds, resulting in numerous MHC paralogs, with relatively high sequence similarity, making the assembly of the MHC region challenging even with long-read sequencing. In addition, MHC genes show rather high sequence divergence between alleles, making diploid-aware assemblers incorrectly classify haplotypes from the same locus as sequences originating from different genomic regions. Consequently, the number of MHC paralogs can easily be over- or underestimated in long-read assemblies. We therefore set out to verify the MHC diversity in an original and a haplotype-purged long-read assembly of one great reed warbler Acrocephalus arundinaceus individual (the focal individual) by using Illumina MiSeq amplicon sequencing. Single exons, representingMHCclass I (MHC-I) and class IIB (MHC-IIB) alleles, were sequenced in the focal individual and mapped to the annotated MHC alleles in the original long-read genome assembly. Eighty-four percent of the annotated MHC-I alleles in the original long-read genome assembly were detected using 55% of the amplicon alleles and likewise, 78% of the annotated MHCIIB alleles were detected using 61% of the amplicon alleles, indicating an incomplete annotation of MHC genes. In the haploid genome assembly, each MHC-IIB gene should be represented by one allele. The parental origin of the MHC-IIB amplicon alleles in the focal individual was determined by sequencing MHC-IIB in its parents. Two of five larger scaffolds, containing 6-19 MHC-IIB paralogs, had a maternal and paternal origin, respectively, as well as a high nucleotide similarity, which suggests that these scaffolds had been incorrectly assigned as belonging to different loci in the genome rather than as alternate haplotypes of the same locus. Therefore, the number of MHCIIB paralogs was overestimated in the haploid genome assembly. Based on our findings we propose amplicon sequencing as a suitable complement to long-read sequencing for independent validation of the number of paralogs in general and for haplotype inference in multigene families in particular. [ABSTRACT FROM AUTHOR]

The advent of genomic big data and the statistical need for reaching significant results have led genome-wide association studies to be ravenous of a huge number of genetic markers scattered along the whole genome. Since its very beginning, the so-called genotype imputation served this purpose; this statistical and inferential procedure based on a known reference panel opened the theoretical possibility to extend association analyses to a greater number of polymorphic sites which have not been previously assayed by the used technology. In this review, we present a broad overview of the genotype imputation process, showing the most known methods and presenting the main areas of interest, with a closer look to the most up-to-date approaches and a deeper understanding of its usage in the presentday genomic landscape, shedding a light on its future developments and investigation areas. [ABSTRACT FROM AUTHOR]

Wheat grain yield is generally sink-limited during grain filling. The grain-filling rate (GFR) plays a vital role but is poorly studied due to the difficulty of phenotype surveys. This study explored the grain-filling traits in a recombinant inbred population and wheat collection using two highly saturated genetic maps for linkage analysis and genome-wide association study (GWAS). Seventeen stable additive quantitative trait loci (QTLs) were identified on chromosomes 1B, 4B, and 5A. The linkage interval between IWB19555 and IWB56078 showed pleiotropic effects on GFR1, GFRmax, kernel length (KL), kernel width (KW), kernel thickness (KT), and thousand kernel weight (TKW), with the phenotypic variation explained (PVE) ranging from 13.38% (KW) to 33.69% (TKW). 198 significant marker-trait associations (MTAs) were distributed across most chromosomes except for 3D and 4D. The major associated sites for GFR included IWB44469 (11.27%), IWB8156 (12.56%) and IWB24812 (14.46%). Linkage analysis suggested that IWB35850, identified through GWAS, was located in approximately the same region as QGFRmax2B.3-11, where two high-confidence candidate genes were present. Two important grain weight (GW)-related QTLs colocalized with grain-filling QTLs. The findings contribute to understanding the genetic architecture of the GFR and provide a basic approach to predict candidate genes for grain yield trait QTLs.

Aroma is an important factor affecting the character and quality of tea. The improvement of aroma trait is a crucial research direction of tea plant breeding. Volatile terpenes, as the major contributors to the floral odors of tea products, also play critical roles in the defense responses of plants to multiple stresses. However, previous studies have largely focused on the aroma formation during the manufacture of tea or the comparison of raw tea samples. The mechanisms causing different aroma profiles between tea cultivars have remained underexplored. In the current study, a high-density genetic linkage map of tea plant was constructed based on an F1 population of ‘Huangdan’ × ‘Jinxuan’ using genotyping by sequencing. This linkage map covered 1754.57 cM and contained 15 linkage groups with a low inter-marker distance of 0.47 cM. A total of 42 QTLs associated with eight monoterpene contents and 12 QTLs associated with four sesquiterpenes contents were identified with the average PVE of 12.6% and 11.7% respectively. Furthermore, six candidate genes related to volatile terpene contents were found in QTL cluster on chromosome 5 by RNA-seq analysis. This work will enrich our understanding of the molecular mechanism of volatile terpene biosynthesis and provide a theoretical basis for tea plant breeding programs for aroma quality improvement. [ABSTRACT FROM AUTHOR]

As one of the most widely cultivated cotton species in China, upland cotton has moderate fiber quality and wide applicability, but its genetic basis is relatively narrow. To expand genetic diversity and improve fiber quality, in this study an introgression population (BC5S5) containing 107 lines was constructed by using G. hirsutum acc. 4105 as the recurrent parent and G. tomentosum as the donor parent. Using the specific-locus amplified fragment sequencing (SLAF-seq) strategy, 3157 high-throughput single nucleotide polymorphism (SNP) markers were obtained. Linkage analysis showed that a total of ninety-one QTLs related to fiber quality traits were detected in three environments, and the phenotypic variance explained (PVE) rates were 4.53–20.92%. Forty-six QTL (50.55%) synergistic genes were derived from G. tomentosum. Among them, qFS-A02-1 and qSCI-A02-1 were stably detected with a PVE of 9.8–16.71% and 14.78–20.92%, respectively. Within the candidate interval, Ghir_A02G012730, Ghir_A02G012790 and Ghir_A02G012830 were found to be possibly involved in cellulose and cell wall biosynthesis, with a relatively high expression during fiber development, 20 DPA and 25 DPA, which suggested that these three genes may be involved in the regulation of fiber strength traits, but their functions need further validation to determine the regulatory mechanism. Our research lays the foundation of fiber quality related to basic genetic research and breeding in cotton. [ABSTRACT FROM AUTHOR]

Long-read sequencing offers a great improvement in the assembly of complex genomic regions, such as the major histocompatibility complex (MHC) region, which can contain both tandemly duplicated MHC genes (paralogs) and high repeat content. The MHC genes have expanded in passerine birds, resulting in numerous MHC paralogs, with relatively high sequence similarity, making the assembly of the MHC region challenging even with long-read sequencing. In addition, MHC genes show rather high sequence divergence between alleles, making diploid-aware assemblers incorrectly classify haplotypes from the same locus as sequences originating from different genomic regions. Consequently, the number of MHC paralogs can easily be over- or underestimated in long-read assemblies. We therefore set out to verify the MHC diversity in an original and a haplotype-purged long-read assembly of one great reed warbler Acrocephalus arundinaceus individual (the focal individual) by using Illumina MiSeq amplicon sequencing. Single exons, representing MHC class I (MHC-I) and class IIB (MHC-IIB) alleles, were sequenced in the focal individual and mapped to the annotated MHC alleles in the original long-read genome assembly. Eighty-four percent of the annotated MHC-I alleles in the original long-read genome assembly were detected using 55% of the amplicon alleles and likewise, 78% of the annotated MHC-IIB alleles were detected using 61% of the amplicon alleles, indicating an incomplete annotation of MHC genes. In the haploid genome assembly, each MHC-IIB gene should be represented by one allele. The parental origin of the MHC-IIB amplicon alleles in the focal individual was determined by sequencing MHC-IIB in its parents. Two of five larger scaffolds, containing 6–19 MHC-IIB paralogs, had a maternal and paternal origin, respectively, as well as a high nucleotide similarity, which suggests that these scaffolds had been incorrectly assigned as belonging to different loci in the genome rather than as alternate haplotypes of the same locus. Therefore, the number of MHC-IIB paralogs was overestimated in the haploid genome assembly. Based on our findings we propose amplicon sequencing as a suitable complement to long-read sequencing for independent validation of the number of paralogs in general and for haplotype inference in multigene families in particular.

Abstract Objective Although linkage studies have been utilized for the identification of variants associated with cancer in the world, little is known about their role in non BRCA1/2 individuals in the Sri Lankans. Hence we performed linkage analysis to identify susceptibility loci related to the inherited risk of cancer in a cohort of Sri Lankans affected with hereditary breast cancer. The Illumina global screening array having 654,027 single nucleotide polymorphism markers was performed in four families, in which at least three individuals within third degree relatives were affected by breast cancer. Two-point parametric linkage analysis was conducted assuming disease allele frequency of 1%. Penetrance was set at 90% for carriers with a 10% phenocopy rate. Results Thirty-one variants exhibited genome-wide suggestive HLODs. The top overall HLOD score was at rs1856277, an intronic variant in MYO16 on chromosome 13. The two most informative families also suggested several candidate linked loci in genes, including ERAP1, RPRM, WWOX, CDH1, EXOC1, HUS1B, STIM1 and TUSC1. This study provides the first step in identifying germline variants that may be involved in risk of cancer in cancer-aggregated non-BRCA1/2 families from the understudied Sri Lankan population. Several candidate linked regions showed suggestive evidence of linkage to cancer risk.

To locate the specific susceptibility genes of a high incidence of schizoaffective disease (SAD) with autonomic dominant inheritance, we recruited a family group from Henan Province with a high incidence of SAD, including 19 individuals sampled from five generations.We used a genome-wide high-density SNP chip to perform genotype detection. The LINKAGE package and MENDEL programs were used for. The two-point and multipoint analyses were calculated by Merlin and SimWalk2 software to obtain the nonparametric linkage (NPL) value, corresponding P value, and parameter linkage limit of detection (LOD) value.Genome-wide linkage analysis yielded a significant linkage signal located on the short arm of chromosome 19. In the dominant genetic model, the LOD of the multipoint parametric analysis was 2.5, and the nonparametric analysis was 19.4 (P

Aroma is an important factor affecting the character and quality of tea. The improvement of aroma trait is a crucial research direction of tea plant breeding. Volatile terpenes, as the major contributors to the floral odors of tea products, also play critical roles in the defense responses of plants to multiple stresses. However, previous studies have largely focused on the aroma formation during the manufacture of tea or the comparison of raw tea samples. The mechanisms causing different aroma profiles between tea cultivars have remained underexplored. In the current study, a high-density genetic linkage map of tea plant was constructed based on an F1 population of ‘Huangdan’ × ‘Jinxuan’ using genotyping by sequencing. This linkage map covered 1754.57 cM and contained 15 linkage groups with a low inter-marker distance of 0.47 cM. A total of 42 QTLs associated with eight monoterpene contents and 12 QTLs associated with four sesquiterpenes contents were identified with the average PVE of 12.6% and 11.7% respectively. Furthermore, six candidate genes related to volatile terpene contents were found in QTL cluster on chromosome 5 by RNA-seq analysis. This work will enrich our understanding of the molecular mechanism of volatile terpene biosynthesis and provide a theoretical basis for tea plant breeding programs for aroma quality improvement.

Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the deletion of an integral number of 3.3 kb units of the polymorphic D4Z4 repeat array at 4q35. The prenatal identification of this defect can be carried out on chorionic villi or amniocytes, whereas preimplantation genetic testing for monogenic disorders (PGT‐M) requires molecular markers linked to the D4Z4 allele of reduced size. In this context the reliability of this association is crucial. To test the informativeness of the nearby polymorphic markers we investigated recombination at 4q35 using the polymorphic markers D4S1523, D4S163 and D4S139 positioned at 0.55, 0.5 and 0.21 Mb proximal to the D4Z4 array respectively. We determined the probability of recombination events to occur in the D4Z4‐D4S1523 interval considering 86 subjects belonging to 12 FSHD families and found a recombination frequency of 14% between D4Z4 and D4S1523. Our study also revealed the occurrence of de novo variants and germline mosaicism. These findings highlight the recombinogenic nature of the 4q subtelomere and indicate that caution should be taken when interpreting PGT‐M results. It is advisable that a woman who underwent a PGT‐M cycle undertakes a prenatal DNA analysis to confirm the size of the D4Z4 alleles carried by the fetus. [ABSTRACT FROM AUTHOR]

Salt stress is a major limiting factor that severely affects the survival and growth of crops. It is important to understand the salt stress tolerance ability of Brassica napus and explore the underlying related genetic resources. We used a high‐throughput phenotyping platform to quantify 2111 image‐based traits (i‐traits) of a natural population under three different salt stress conditions and an intervarietal substitution line (ISL) population under nine different stress conditions to monitor and evaluate the salt stress tolerance of B. napus over time. We finally identified 928 high‐quality i‐traits associated with the salt stress tolerance of B. napus. Moreover, we mapped the salt stress‐related loci in the natural population via a genome‐wide association study and performed a linkage analysis associated with the ISL population, respectively. These results revealed 234 candidate genes associated with salt stress response, and two novel candidate genes, BnCKX5 and BnERF3, were experimentally verified to regulate the salt stress tolerance of B. napus. This study demonstrates the feasibility of using high‐throughput phenotyping‐based quantitative trait loci mapping to accurately and comprehensively quantify i‐traits associated with B. napus. The mapped loci could be used for genomics‐assisted breeding to genetically improve the salt stress tolerance of B. napus. [ABSTRACT FROM AUTHOR]