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Objective: To evaluate the effects of uncoupling protein (UCP) 1, UCP2 and UCP3 gene variants on body composition and metabolic changes in response to chronic overfeeding and the recovery after the period of overfeeding. Subjects and design: Twenty-four normal weight men (21±2 y), who constituted 12 pairs of identical twins, ate a 4.2 MJ/day energy surplus, 6 days a week, during a period of 100 days. The subjects were asked to return to the laboratory for testing at 4 months and for a final examination 5 y after completion of the overfeeding protocol. Methods: Resting metabolic rate (RMR) measurements were performed before and after overfeeding. A 4.2 MJ test meal was consumed, after which calorimetric measurements were continued for 240 min. Total body fat was assessed by hydrodensitometry and total subcutaneous fat by the sum of eight skinfolds. Polymorphisms were typed by PCR and PCR-RFLP-techniques. Thyroid stimulating hormone (TSH) concentrations after a thyrotropin releasing hormone (TRH) injection were measured by radioimmunoassay (RIA). Results: The changes in body weight and adiposity were not different between UCP1 Bcl I, UCP2 alanine to valine (A55V), UCP2 insertion/deletion (I/D) or UCP3 Rsa I genotypes. However, the recovery from overfeeding was worse among G-allele carriers of the UCP1 Bcl I, I allele non-carriers of the UCP2 I/D, AV heterozygote subjects of the UCP2 A55V and CC subjects of the UCP3 Rsa I polymorphisms. RMR was lower both before (P=0.01) and after (P=0.001) overfeeding in subjects with the CC genotype of the UCP3 Rsa I polymorphism. Moreover, after overfeeding, the UCP2 A55V heterozygote and UCP3 Rsa I CC homozygote subjects had significantly higher respiratory quotient (RQ) values at rest (P

The guppy Y chromosome has been considered a model system for the evolution of suppressed recombination between sex chromosomes, and it has been proposed that complete sex-linkage has evolved across about 3 Mb surrounding this fish's sex-determining locus, followed by recombination suppression across a further 7 Mb of the 23 Mb XY pair, forming younger "evolutionary strata". Sequences of the guppy genome show that Y is very similar to the X chromosome. Knowing which parts of the Y are completely nonrecombining, and whether there is indeed a large completely nonrecombining region, are important for understanding its evolution. Here, we describe analyses of PoolSeq data in samples from within multiple natural populations from Trinidad, yielding new results that support previous evidence for occasional recombination between the guppy Y and X. We detected recent demographic changes, notably that downstream populations have higher synonymous site diversity than upstream ones and other expected signals of bottlenecks. We detected evidence of associations between sequence variants and the sex-determining locus, rather than divergence under a complete lack of recombination. Although recombination is infrequent, it is frequent enough that associations with SNPs can suggest the region in which the sex-determining locus must be located. Diversity is elevated across a physically large region of the sex chromosome, conforming to predictions for a genome region with infrequent recombination that carries one or more sexually antagonistic polymorphisms. However, no consistently male-specific variants were found, supporting the suggestion that any completely sex-linked region may be very small.

Frontotemporal dementia (FTD) is a primary cause of dementia encompassing a broad range of clinical phenotypes and cellular pathologies. Genetic discoveries in FTD have largely been driven by linkage studies in well-documented extended families, explaining most of the patients with a known pathogenic mutation. In the context of complex diseases, it is hypothesized that mutations with reduced penetrance or a combination of low-effect size variants with environmental factors drive disease. Furthermore, these genes are likely to be part of the interaction networks of known FTD genes, contributing to converging cellular processes. In this review, we examine gene discovery approaches in FTD and introduce network biology concepts as tools to assist gene identification studies in genetically complex disease.

Identification and mapping of an inhibitor of Ndhrl1 mediating nitrogen-dependent hypersensitive reaction-like phenotype in wheat. Hypersensitive reaction-like (HRL) traits are characteristic of spontaneous lesions including yellowish spots, brown spots or white-stripe that appeared randomly and dispersedly on all the leaves in the absence of plant pathogens. Our previous studies have shown that the wheat line P7001 showed an HRL trait at low nitrogen supply, and this trait was controlled by the gene Ndhrl1 (Nitrogen-dependent hypersensitive reaction-like 1). In order to investigate the robustness of the trait expression mediated by Ndhrl1 under different genetic backgrounds, seven genetic populations, with P7001 being the common female parent, were constructed and analyzed. F

Genetic architecture controlling grain lutein content of common wheat was investigated through an integration of genome-wide association study (GWAS) and linkage analysis. Putative candidate genes involved in carotenoid metabolism and regulation were identified, which provide a basis for gene cloning and development of nutrient-enriched wheat varieties through molecular breeding. Lutein, known as 'the eye vitamin', is an important component of wheat nutritional and end-use quality. However, the genetic manipulation of grain lutein content (LUC) in common wheat has not previously been well studied. Here, quantitative trait loci (QTL) associated with the LUC measured by high performance liquid chromatography (HPLC) were first identified by integrating a genome-wide association study (GWAS) and linkage mapping. A Chinese wheat mini-core collection (MCC) of 262 accessions and a doubled haploid (DH) population derived from Jinchun 7 and L1219 were genotyped using the 90K SNP array. A total of 124 significant marker-trait associations (MTAs) on all 21 wheat chromosomes except for 1A, 4D, and 5B that formed 58 QTL were detected. Among them, six stable QTL were identified on chromosomes 2AL, 2DS, 3BL, 3DL, 7AL, and 7BS. Meanwhile, three of the ten QTL identified in the DH population, QLuc.5A.1 and QLuc.5A.2 on chromosome 5AL and QLuc.6A.2 on 6AS, were stable and independently explained 5.58-10.86% of the phenotypic variation. The QLuc.6A.2 region colocalized with two MTAs identified by GWAS. Moreover, 71 carotenoid metabolism-related candidate genes were identified, and the allelic effects were analyzed in the MCC panel based on the 90K array. Results revealed that the genes CYP97A3 (Chr. 6B) and CCD1 (Chr. 5A) were significantly associated with LUC. Additionally, the gene PSY3 (QLuc.5A.1) and several candidate genes involved in the methylerythritol 4-phosphate (MEP) pathways colocalized with stable QTL regions. The present study provides potential targets for future functional gene exploration and molecular breeding in common wheat.

Genetic linkage maps are used to localize markers on the genome based on the recombination frequency. Most often, these maps are based on the segregation observed within a single biparental population of limited size ( n 4:5 mapping populations ( n = 278–365), totaling 1857 individuals. The six linkage maps were then merged to produce a consensus map comprising a total of 16 311 mapped SNPs that jointly cover 99.5% of the soybean genome with only two gaps larger than 10 cM. Compared to previous soybean consensus maps, it offers a more extensive and uniform coverage.

Introduction There has been limited research conducted on the identifications/methodological approaches of using plant species as indicators of the presence of economically, important mineral resources. Objectives This study set out to answer the following questions (1) Do specific plant species and species assemblages indicate the presence of mineral deposits? and (2) if yes, then what sort of ecological, experimental, and statistical procedures could be employed to identify such indicators? Methods Keeping in mind these questions, the vegetation of subtropical mineral mines sites in northern Pakistan were evaluated using Indicator Species Analysis (ISA), Canonical Correspondence Analysis (CCA) and Structural Equation Modeling (SEM). Results A total of 105 plant species belonging to 95 genera and 43 families were recorded from the three mining regions. CA and TWCA classified all the stations and plants into three major mining zones, corresponding to the presence of marble, coal, and chromite, based on Jaccard distance and Ward’s linkage methods. This comprehended the following indicator species: Ficus carica, Isodon rugosus and Ajuga parviflora (marble indicators); Olea ferruginea, Gymnosporia royleana and Dicliptera bupleuroides (coal indicators); and Acacia nilotica, Rhazya stricta and Aristida adscensionis (chromite indicators) based on calculated Indicator Values (IV). These indicators were reconfirmed by CCA and SEM analysis. Conclusion It was concluded that ISA is one of the best techniques for the identification/selection of plant indicator species, followed by reconfirmation via CCA and SEM analysis. In addition to establishing a robust approach to identifying plant indicator species, our results could have application in mineral prospecting and detection.

The covariance between relatives is a tenet in quantitative genetics, but the covariance between nonrelatives in crops has not been studied. My objective was to determine if a covariance between nonrelatives is present in maize (Zea mays L.). The germplasm comprised 272 maize lines that were previously genotyped with 28,626 single nucleotide polymorphism (SNP) markers. Pairs of unrelated lines were identified on the basis of their membership probabilities in five subpopulations. The covariance between nonrelatives was assessed as the regression of phenotypic similarity on SNP similarity between unrelated lines. Out of 77 regressions, seven were significant at a 5% false discovery rate: anthesis and silking dates in unrelated B73 and Oh43 lines; plant height and ear height in unrelated Oh43 and PH207 lines; oil in unrelated A321 and Mo17 lines; starch in unrelated B73 and PH207 lines; and protein in unrelated B73 and Mo17 lines. The latter covariance was negative, and this negative covariance between nonrelatives was attributed to the subpopulations having different linkage phases between the markers and underlying causal variants. Overall, the results indicated that a covariance between nonrelatives in maize is not ubiquitous but is sometimes present for specific traits and for certain groups of unrelated individuals. I propose that the covariance between nonrelatives and the covariance between relatives be combined into a generalized covariance between individuals, thus giving a unified framework for expressing the resemblance regardless of the degree of relatedness.

The Hessian fly (HF, Mayetiola destructor) is one of the destructive pests of wheat (Triticum aestivum L.) worldwide. Resistant cultivars can effectively minimize wheat damage due to this insect pest. To identify new quantitative trait loci (QTL) for HF resistance, a population of recombinant inbred lines (RILs) was developed from a cross between the HF-resistant wheat cultivar ‘Chokwang’ and susceptible wheat ‘Ning 7840’, and phenotyped for responses to HF attack. A linkage map was constructed using 1147 single nucleotide polymorphism (SNP) markers generated from genotyping-by-sequencing (GBS). One major QTL, QHf.hwwg-6BS, for HF-resistance was identified on chromosome arm 6BS, which explained up to 84.0% of the phenotypic variation and was contributed by Chokwang. Two RILs showed recombination in the candidate interval of QHf.hwwg-6BS, which delimited QHf.hwwg-6BS to a 4.75 Mb physical interval between 6,028,601 bp and 10,779,424 bp on chromosome arm 6BS of IWGSC Chinese Spring reference genome RefSeq v2.0. Seven GBS-SNPs in the candidate interval were converted into Kompetitive allele specific polymerase chain reaction (KASP) markers. Two of them, KASP-6B112698 and KASP-6B7901215, were validated in a U.S. winter wheat panel. KASP-6B112698 was nearly diagnostic, thus can be used to screen QHf.hwwg-6BS and pyramid it with other resistance genes in breeding programs.

Black point disease caused by Bipolaris sorokiniana is a problem in wheat production worldwide. We aimed to identify major quantitative trait loci (QTL) for resistance to black point and develop molecular markers for marker-assisted selection (MAS). A recombinant inbred line (RIL) population derived from a cross between Wanyuanbai 1 (susceptible) and SN4143 (resistant) was evaluated for black point response at three locations during two years under artificial inoculation with B. sorokiniana, providing data for six environments. Thirty resistant and 30 susceptible RILs were selected to form resistant and susceptible bulks, respectively, that were genotyped by the wheat 660K SNP array; 685 single-nucleotide polymorphisms (SNPs) were identified, among which 385 (56.2%) and 115 (16.8%) were located on chromosomes 4A and 2B, respectively. Bulked segregant RNA-Seq analysis identified candidate regions on chromosomes 4A (4.60 Mb–40.28 Mb) and 5A (1.22 Mb–48.47 Mb). Genetic linkage maps were constructed for chromosomes 2B, 4A, and 5A using 59 polymorphic dCAPS and SSR markers. Finally, two QTL, designated QBB.hau-4A and QBB.hau-5A, were detected on chromosomes 4A and 5A, respectively. The resistance allele of QBB.hau-4A was derived from SN4143, and that of QBB.hau-5A came from Wanyuanbai 1. QBB.hau-4A with a large and consistent effect (15.1%) is likely to be a new locus for black point resistance. The markers linked to QBB.hau-4A and QBB.hau-5A have potential application in MAS-based breeding.

qCT7, a novel QTL for increasing seedling cold tolerance in rice, was fine-mapped to a 70.9-kb region on chromosome 7, and key OsWRKY115 was identified in transgenic plants. Cold stress caused by underground cold-water irrigation seriously limits rice productivity. We systemically measured the cold-responsive traits of 2,570 F2 individuals derived from two widely cultivated rice cultivars, Kong-Yu-131 and Dong-Nong-422, to identify the major genomic regions associated with cold tolerance. A novel major QTL, qCT7, was mapped on chromosome 7 associated with the cold tolerance and survival, using whole-genome re-sequencing with bulked segregant analysis. Local QTL linkage analysis with F

Silphium integrifolium (Asteraceae) has been identified as a candidate for domestication as a perennial oilseed crop and is assumed to have sporophytic self-incompatibility system-the genetic basis of which is not well understood in the Asteraceae. To address this gap, we sought to map the genomic location of the self-recognition locus (S-locus) in this species. We used a biparental population and genotyping-by-sequencing to create the first genetic linkage map for this species, which contained 198 SNP markers and resolved into the correct number of linkage groups. Then we developed a novel crossing scheme and set of analysis methods in order to infer S-locus genotypes for a subset of these individuals, allowing us to map the trait. Finally, we evaluated potential genes of interest using synteny analysis with the annual sunflower (Helianthus annuus) and lettuce (Lactuca sativa) genomes. Our results confirm that S. integrifolium does indeed have a sporophytic self-incompatibility system. Our method is effective and efficient, allowed us to map the S. integrifolium S-locus using fewer resources than existing methods, and could be readily applied to other species.

Background: Bovine mastitis is a common infectious disease with a serious threat to the dairy industry and public health. Mastitis is a polygenetic trait under the control of many genes. In the current study, our research attempted to address the role of mastitis-associated genes in various signalings including parasitic, viral, cancer and fungal diseases by using online bioinformatics software. Methods: We selected mastitis-associated genes from already published data and using online bioinformatics tools including DAVID and String classified the pathological role of relevant genes. A Venn diagram was used to show the status of overlapping genes among different biological function processes. Result: This study revealed that the genes gathered in published resources of mastitis were significantly correlated with influenza A, chagas disease, leishmaniasis, toxoplasmosis, tuberculosis, cancer signaling, hepatitis B, type I & II diabetes mellitus and prion diseases biological pathways. Based on our findings, we concluded that mastitis-linked genes could be used as markers for many other diseases. Moreover, the bioinformatics tools applied in the current study might be helpful in screening the genes involved in one disease and their association with other diseases as well.

The study of yield traits can reveal the genetic architecture of grain yield for improving maize production. In this study, an association panel comprising 362 inbred lines and a recombinant inbred line population derived from X178 × 9782 were used to identify candidate genes for nine yield traits. High-priority overlap (HPO) genes, which are genes prioritized in a genome-wide association study (GWAS), were investigated using coexpression networks. The GWAS identified 51 environmentally stable SNPs in two environments and 36 pleiotropic SNPs, including three SNPs with both attributes. Seven hotspots containing 41 trait-associated SNPs were identified on six chromosomes by permutation. Pyramiding of superior alleles showed a highly positive effect on all traits, and the phenotypic values of ear diameter and ear weight consistently corresponded with the number of superior alleles in tropical and temperate germplasm. A total of 61 HPO genes were detected after trait-associated SNPs were combined with the coexpression networks. Linkage mapping identified 16 environmentally stable and 16 pleiotropic QTL. Seven SNPs that were located in QTL intervals were assigned as consensus SNPs for the yield traits. Among the candidate genes predicted by our study, some genes were confirmed to function in seed development. The gene Zm00001d016656 encoding a serine/threonine protein kinase was associated with five different traits across multiple environments. Some genes were uniquely expressed in specific tissues and at certain stages of seed development. These findings will provide genetic information and resources for molecular breeding of maize grain yield.

Gilles de la Tourette syndrome (TS) is a common, childhood-onset psychiatric disorder characterized by persistent motor and vocal tics. It is a heterogeneous disorder in which the phenotypic expression may be affected by environmental factors, such as immune responses. Furthermore, several studies have shown that genetic factors play a vital role in the etiology of TS, as well as its comorbidity with other disorders, including attention deficit hyperactivity disorder, obsessive-compulsive disorder, and autism spectrum disorder. TS has a complex inheritance pattern and, according to various genetic studies, several genes and loci have been correlated with TS. Genome-wide linkage studies have identified Slit and Trk-like 1 (SLITRK1) and histidine decarboxylase (HDC) genes, and candidate gene association studies have extensively investigated the dopamine and serotonin system genes, but there have been no consistent results. Moreover, genome-wide association studies have implicated several genetic loci; however, larger study cohorts are needed to confirm this. Copy number variations, which are polymorphisms in the number of gene copies due to chromosomal deletions or duplications, are considered another significant source of mutations in TS. In the last decade, whole genome/exome sequencing has identified several novel genetic mutations in patients with TS. In conclusion, more studies are needed to reveal the exact mechanisms of underlying TS, which may help to provide more information on the prognosis and therapeutic plans for TS.

Jatropha (Jatropha curcas L.) has been considered as a potential bioenergy crop and its genetic improvement is essential for higher seed yield and oil content which has been hampered due to lack of desirable molecular markers.An FThe QTLs detected in this study for various phenotypic traits will lay down the path for marker-assisted breeding in the future and cloning of genes that are responsible for phenotypic variation.

Rupture of an intracranial aneurysm (IA) leads to aneurysmal subarachnoid haemorrhage (ASAH), a severe type of stroke. Some rare variants that cause IA in families have been identified, but still, the majority of genetic causes, as well as the biological mechanisms of IA development and rupture, remain unknown. We aimed to identify rare, damaging variants for IA in three large Dutch families with multiple affected members with IA (N = 9, 11, and 6). By combining linkage analysis and genome sequencing (GS), we identified six rare and damaging variants for which all cases within one of the families were heterozygous. These variants were p.Tyr87Cys in SYCP1, p.Phe1077Leu in FMNL2, p.Thr754Lys in TBC1D2, p.Arg321His in ZNF782, p.Arg979Trp in CCDC180, and p.Val125Met in NCBP1. None of the variants showed association with IA status in a large cohort of 937 patients from the general IA patient population and 1046 controls. Gene expression in IA and cerebral artery tissue further prioritized FMNL2 and TBC1D2 as potential important players in IA pathophysiology. Further studies are needed to characterize the functional consequences of the identified variants and their role in the biological mechanisms of IA.

qHKW3, a quantitative trait locus for hundred-kernel weight, harbors the proposed causal gene Zm00001d044081, encoding a homeobox-leucine zipper protein (ATHB-4) that might affect kernel size and weight. Kernel size and weight are key traits that contribute greatly to grain yield per year in maize (Zea mays). Here, we developed the chromosome segment substitution line (CSSL), H15-6-2, with smaller kernel size and lower kernel weight across environments compared to the background line Ye478. Histological analysis suggested that a slower kernel filling rate of H15-6-2 contributes to its small-kernel size and reduced hundred-kernel weight. We identified a quantitative trait locus (QTL) explaining 23% of the phenotypic variation in hundred-kernel weight. This QTL, qHKW3, was fine mapped to an interval of approximately 40.66-kb harboring the gene Zm00001d044081. The upstream sequence and its expression level of Zm00001d044081 in kernels at 6 days after pollination (DAP) showed obvious differences between the near-isogenic lines HKW3

PURPOSE: This study aimed to evaluate the value of long-read sequencing for preimplantation haplotype linkage analysis. METHODS: The genetic material of the three β-thalassemia mutation carrier couples was sequenced using single-molecule real-time sequencing in the 7.7-kb region of the HBB gene and a 7.4-kb region that partially overlapped with it to detect the presence of 17 common HBB gene mutations in the Chinese population and the haplotypes formed by the continuous array of single-nucleotide polymorphisms linked to these mutations. By using the same method to analyze multiple displacement amplification products of embryos from three families and comparing the results with those of the parents, it could be revealed whether the embryos carry disease-causing mutations without the need for a proband. RESULTS: The HBB gene mutations of the three couples were accurately detected, and the haplotype linked to the pathogenic site was successfully obtained without the need for a proband. A total of 68.75% (22/32) of embryos from the three families successfully underwent haplotype linkage analysis, and the results were consistent with the results of NGS-based mutation site detection. CONCLUSION: This study supports long-read sequencing as a potential tool for preimplantation haplotype linkage analysis. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10815-022-02415-1.

Oil and protein content and fatty acid composition are quality traits in peanut. Elucidating the genetic mechanisms underlying these traits may help researchers to obtain improved cultivars by molecular breeding. Whole-genome resequencing of a recombinant inbred population of 318 lines was performed to construct a high-density linkage map and identify QTL for peanut quality. The map, containing 4561 bin markers, covered 2032 cM with a mean marker density of 0.45 cM. A total of 110 QTL for oil and protein content, and fatty acid composition were mapped on the 18 peanut chromosomes. The QTL qA05.1 was detected in four environments and showed a major phenotypic effect on the contents of oil, protein, and six fatty acids. The genomic region spanned by qA05.1, corresponding to a physical interval of approximately 1.5 Mb, contains two SNPs polymorphic between the parents that could cause missense mutations. The two SNP sites were employed as KASP markers and validated using lines with extremely high and low oil contents. These sites may be useful in the marker-assisted breeding of peanut cultivars with high oil contents.

Wheat stripe rust, an airborne fungal disease and caused by Puccinia striiformis Westend. f. sp. tritici (Pst), is one of the most devastating diseases on wheat. It is the most effective and economical measure for the diseases control to identify high-level resistance genes and apply in wheat breeding. Chinese wheat cultivar Xike01015 presents high levels of all stage resistance (ASR) to the current predominant Pst race CYR33. In this study, a single dominant gene, designated as YrXk, was identified in Xike01015 conferring resistance to CYR33 with genetic analysis of F2 and BC1 population from cross of Mingxian169 (susceptible) and Xike01015. The specific length amplified fragment sequencing (SLAF-seq) strategy was used to construct linkage map in the F2 population. QTL analysis mapped YrXk to a 12.4 Mb segment on chromosome1BS, explaining over 86.96% phenotypic variance. Gene annotation in the QTL region identified three differential expressed candidate genes , TraesCS1B02G168600.1, TraesCS1B02G170200.1, and TraesCS1B02G172400.1. The qRT-PCR results displayed that TraesCS1B02G170200.1 and TraesCS1B02G168600.1 significantly up-regulated and down-regulated, respectively, and TraesCS1B02G170200.1 slightly up-regulated after changed with CYR33 in the seedling stage, which indicating these genes may function in wheat resistance to stripe rust. The results of this study can be used in wheat breeding for improving resistance to stripe rust.

Next-generation sequencing (NGS) technologies have transformed medical genetics. However, short-read lengths pose a limitation on identification of structural variants, sequencing repetitive regions, phasing of distant nucleotide changes, and distinguishing highly homologous genomic regions. Long-read sequencing technologies may offer improvements in the characterization of genes that are currently difficult to assess. We used a combination of targeted DNA capture, long-read sequencing, and a customized bioinformatics pipeline to fully assemble the RH region, which harbors variation relevant to red cell donor-recipient mismatch, particularly among patients with sickle cell disease. RHD and RHCE are a pair of duplicated genes located within an ∼175 kb region on human chromosome 1 that have high sequence similarity and frequent structural variations. To achieve the assembly, we utilized palindrome repeats in PacBio SMRT reads to obtain consensus sequences of 2.1 to 2.9 kb average length with over 99% accuracy. We used these long consensus sequences to identify 771 assembly markers and to phase the RHD-RHCE region with high confidence. The dataset enabled direct linkage between coding and intronic variants, phasing of distant SNPs to determine RHD-RHCE haplotypes, and identification of known and novel structural variations along with the breakpoints. A limiting factor in phasing is the frequency of heterozygous assembly markers and therefore was most successful in samples from African Black individuals with increased heterogeneity at the RH locus. Overall, this approach allows RH genotyping and de novo assembly in an unbiased and comprehensive manner that is necessary to expand application of NGS technology to high-resolution RH typing.

Cotton is the most important fiber crop in the world. Asiatic cotton (Gossypium arboreum, genome A

Lentil (Lens culinaris Medik.) is a self-pollinating, diploid, annual, cool-season, food legume crop that is cultivated throughout the world. Ascochyta blight (AB), caused by Ascochyta lentis Vassilievsky, is an economically important and widespread disease of lentil. Development of cultivars with high levels of durable resistance provides an environmentally acceptable and economically feasible method for AB control. A detailed understanding of the genetic basis of AB resistance is hence highly desirable, in order to obtain insight into the number and influence of resistance genes. Genetic linkage maps based on single nucleotide polymorphisms (SNP) and simple sequence repeat (SSR) markers have been developed from three recombinant inbred line (RIL) populations. The IH × NF map contained 460 loci across 1461.6 cM, while the IH × DIG map contained 329 loci across 1302.5 cM and the third map, NF × DIG contained 330 loci across 1914.1 cM. Data from these maps were combined with a map from a previously published study through use of bridging markers to generate a consensus linkage map containing 689 loci distributed across seven linkage groups (LGs), with a cumulative length of 2429.61 cM at an average density of one marker per 3.5 cM. Trait dissection of AB resistance was performed for the RIL populations, identifying totals of two and three quantitative trait loci (QTLs) explaining 52 and 69% of phenotypic variation for resistance to infection in the IH × DIG and IH × NF populations, respectively. Presence of common markers in the vicinity of the AB_IH1- and AB_IH2.1/AB_IH2.2-containing regions on both maps supports the inference that a common genomic region is responsible for conferring resistance and is associated with the resistant parent, Indianhead. The third QTL was derived from Northfield. Evaluation of markers associated with AB resistance across a diverse lentil germplasm panel revealed that the identity of alleles associated with AB_IH1 predicted the phenotypic responses with high levels of accuracy (~86%), and therefore have the potential to be widely adopted in lentil breeding programs. The availability of RIL-based maps, a consensus map, and validated markers linked to AB resistance provide important resources for lentil improvement.

Background: Several studies have shown that autoimmune diseases are associated with psychiatric diseases like depression and psychosis. Genetic evidence supports this association. The aim of this study was to investigate if genetic variants predisposing to autoimmune diseases and psychiatric disorders are genetically linked, constructing the common haplotypes. Methods: All registered single nucleotide polymorphisms (SNPs) in the Genome-wide association studies (“GWAS catalog”) having been associated with autoimmune rheumatic and endocrine diseases were investigated for being in linkage disequilibrium with any psychiatric disorders’ associated SNPs. Analysis was performed by the LDtrait and LDhap bioinformatics tools. Results: Multiple chromosomal regions have been detected containing rheumatic/endocrine diseases’ predisposing SNPs and psychiatric disorders’ predisposing SNPs. The genetic haplotypes have been constructed for some of these genetic regions. Six of the autoimmune rheumatic and endocrine diseases examined here share a common haplotype with psychiatric diseases at the HLA locus 6p21-22. Conclusion: Our study shows that autoimmune diseases and psychiatric diseases are genetically linked. Genetic haplotypes have been constructed, showing in detail this genetic linkage.

Rapeseed, a major oil crop in the world, is easily affected by low-temperature stress. A low temperature delays seed germination and increases seedling mortality, adversely affecting rapeseed growth and production. In the present study, a tolerant cultivar (Huyou21) was crossed with a susceptible genotype (3429) to develop a mapping population consisting of 574 F2 progenies and elucidate the genetic mechanisms of seed germination under low temperatures. Two quantitative trait loci (QTL) for low-temperature germination (LTG) were detected, one on chromosome A09 (named qLTGA9-1) and the other on chromosome C01 (named qLTGC1-1), using the QTL-seq approach and confirmed via linkage analysis in the mapping population. Further, qLTGA9-1 was mapped to a 341.86 kb interval between the SSR markers Nys9A212 and Nys9A215. In this region, 69 genes including six specific genes with moderate or high effect function variants were identified based on the Ningyou7 genome sequence. Meanwhile, qLTGC1-1 was mapped onto a 1.31 Mb interval between SSR markers Nys1C96 and Nys1C117. In this region, 133 genes including five specific genes with moderate effect function variants were identified. These specific genes within the two QTL could be used for further studies on cold tolerance and as targets in rapeseed breeding programs.

Both theory and experimental data from pathogens suggest that the production of transmission stages should be strongly associated with virulence, but the genetic bases of parasite transmission/virulence traits are poorly understood. The blood fluke Schistosoma mansoni shows extensive variation in numbers of cercariae larvae shed and in their virulence to infected snail hosts, consistent with expected trade-offs between parasite transmission and virulence. We crossed schistosomes from two populations that differ 8-fold in cercarial shedding and in their virulence to Biomphalaria glabrata snail hosts, and determined four-week cercarial shedding profiles in F0 parents, F1 parents and 376 F2 progeny from two independent crosses in inbred snails. Sequencing and linkage analysis revealed that cercarial production is polygenic and controlled by five QTLs (i.e. Quantitative Trait Loci). These QTLs act additively, explaining 28.56% of the phenotypic variation. These results demonstrate that the genetic architecture of key traits relevant to schistosome ecology can be dissected using classical linkage mapping approaches.

Simple sequence repeat (SSR) markers have been proved to be a very powerful tool for quantitative trait locus (QTL) mapping, marker-assisted selection and comparative genomics research in many crop species. However, a high-density SSR genetic linkage map is still lacking because there are only a few SSR markers available in sweet potato. In this study, a total of 2545 simple sequence repeat (SSR) primer pairs, including 1215 genomic SSR (gSSR) primer pairs and 1330 BES-SSR (bSSR) primer pairs designed from the genome sequence and BAC-end sequence of sweet potato, respectively, were screened with sweet potato cultivars Luoxushu 8 and Zhengshu 20 and their randomly sampled two F1 individuals and 571 of them generated polymorphic bands. The selected 571 polymorphic SSR primer pairs and 35 EST-based SSR (eSSR) primer pairs developed at our laboratory were used to genotype 240 F1 individuals derived from a cross between Luoxushu 8 and Zhengshu 20. A double pseudo-test-cross strategy was applied for linkage analysis. The Luoxushu 8 map included 90 linkage groups with 5057 SSR markers and covered 13,299.9 cM with a marker density of 2.6 cM, and the Zhengshu 20 map contained 90 linkage groups with 3009 SSR markers and covered 11,122.9 cM with a marker density of 3.7 cM. Fifteen homologous groups were identified in both parent maps. These are the first SSR linkage maps consisting of the complete 90 linkage groups and 15 homologous groups, which are consistent with the autohexaploid nature of sweetpotato, and are also the linkage maps with the highest SSR marker density reported to date. These results provide a basis for QTL mapping, marker-assisted breeding and comparative genomics research of sweet potato.

Whole genome sequence from Acinetobacter baumannii isolate Ab-46-1632 reveals a novel KL144 capsular polysaccharide (CPS) biosynthesis gene cluster, which carries genes for d -glucuronic acid ( D -GlcA) and l -rhamnose ( l -Rha) synthesis. The CPS was extracted from Ab-46-1632 and studied by 1H and 13C NMR spectroscopy, including a two-dimensional 1H,13C HMBC experiment and Smith degradation. The CPS was found to have a hexasaccharide repeat unit composed of four l -Rhap residues and one residue each of d -GlcpA and N-acetyl- d -glucosamine ( D -GlcpNAc) consistent with sugar synthesis genes present in KL144. The K144 CPS structure was established and found to be related to those of A. baumannii K55, K74, K85, and K86. A comparison of the corresponding gene clusters to KL144 revealed a number of shared glycosyltransferase genes correlating to shared glycosidic linkages in the structures. One from the enzymes, encoded by only KL144 and KL86, is proposed to be a novel multifunctional rhamnosyltransfaerase likely responsible for synthesis of a shared α- l -Rhap-(1 → 2)-α-L-Rhap-(1 → 3)-L-Rhap trisaccharide fragment in the K144 and K86 structures.

Ear shank length (ESL) has significant effects on grain yield and kernel dehydration rate in maize. Herein, linkage mapping and genome-wide association study were combined to reveal the genetic architecture of maize ESL. Sixteen quantitative trait loci (QTL) were identified in the segregation population, among which five were repeatedly detected across multiple environments. Meanwhile, 23 single nucleotide polymorphisms were associated with the ESL in the association panel, of which four were located in the QTL identified by linkage mapping and were designated as the population-common loci. A total of 42 genes residing in the linkage disequilibrium regions of these common variants and 12 of them were responsive to ear shank elongation. Of the 12 genes, five encode leucine-rich repeat receptor-like protein kinases, proline-rich proteins, and cyclin11, respectively, which were previously shown to regulate cell division, expansion, and elongation. Gene-based association analyses revealed that the variant located in Cyclin11 promoter affected the ESL among different lines. Cyclin11 showed the highest expression in the ear shank 15 days after silking among diverse tissues of maize, suggesting its role in modulating ESL. Our study contributes to the understanding of the genetic mechanism underlying maize ESL and genetic modification of maize dehydration rate and kernel yield.

Structural variation can create supergene architectures through tight genomic linkages that maintain traits in favourable combinations. A new study by Sodeland et al. links such supergenes in Atlantic cod with species persistence over millennia, despite the fisheries-induced decline in populations. This links intraspecific supergene diversity to ecological stasis, with significant consequences for ecosystem stability.

Relatively large number of bitter melon microsatellite markers have been reported; however, only few resulted in successful PCR amplification and a small fraction shown polymorphisms. This limited chance of recovering polymorphic markers makes the primer screening a cost-demanding process. To test the hypothesis that microsatellites with longer motifs as well as shorter motifs repeated substantially shall have better prospects to be polymorphic, we performed a genome-wide microsatellite mining. We selected a sample of genome-wide microsatellites with prescribed motif lengths or satisfying a target repeat number, which were considered potentially-hyper variable, for primer designing and validation. Seventy five microsatellites satisfying these criteria were identified, of which 69 were validated through successful PCR amplification. Among them, 40 (53.33% of the markers identified) were polymorphic. This result showed a significantly higher success compared to our initial results of 51 (20.64%) polymorphic markers out of the 188 amplified when 247 previously reported markers were screened. The screening of two cultivars revealed that markers were efficient to identify up to three alleles. The characterization of these 69 new markers with 247 markers previously reported showed that di-nucleotide motifs were most abundant, followed by tri- and tetra-nucleotide motifs. TC motif markers were most polymorphic (12.08%) followed by AG and CT motifs (both 9.89%). Similarly, AGA (6.59%) and TATT (3.29%) were most polymorphic among the tri- and tetra-nucleotide motifs. These 69 hypervariable microsatellite markers along with 188 markers initially validated in this study shall be useful for phylogenetic analyses, studies of linkage, QTL, and association mapping in bitter melon.

Phytophthora root and stem rot is a major constraint to soybean [Glycine max (L.) Merr.] production worldwide. Deployment of single dominant Resistance to Phytophthora sojae (Rps) genes are an effective management strategy for this disease. However, due to increasing diversity in P. sojae populations for pathotype, new effective Rps genes are needed. Two recombinant inbred line (RIL) populations, each derived from a cross with Williams (susceptible) and resistant accessions PI 407974B and PI 424487B, were evaluated for resistance with one or more P. sojae pathotypes: OH1 (vir 7), OH4 (vir 1a, 1c, 7), OH7 (vir 1a, 3a, 3c, 4, 5, 6, 7), OH25 (vir 1a, 1b, 1c, 1k, 7), and 1.S.1.1 (1a, 1b, 1k, 2, 3a, 3c, 4, 5, 6, 7, 8). Molecular maps were assembled with BARCSoySNP6K BeadChip, simple-sequence repeat, and Kompetitive Allele Specific polymerase chain reaction markers. A total of three Rps loci were mapped, one near Rps1 on Chromosome 3 and two near Rps4/6 on chromosome 18. Quantitative trait loci and straight linkage maps confirmed the loci. Resistance to P. sojae pathotypes 1.S.1.1 and/or OH7 was mapped to Chromosome 3 in the PI 407974B RIL population. PI 407974B and PI 424487B RIL populations have Rps loci on chromosome 18 toward OH4 and OH25, respectively, which are near the Rps4/6 region. Although these PIs may have novel Rps genes/alleles and could assist in the deployment and pyramiding of resistance against P. sojae, care should be taken because these may condition defense reactions to some P. sojae pathotypes but not to all., Funding for this project was provided by the United Soybean Board, the Ohio Soybean Council, and the Ohio State University Center for Applied Plant Sciences, College of Food, Agricultural and Environmental Sciences, Center for Soybean Research. In addition, we wish to acknowledge support from the Molecular Cellular Imaging Center at Ohio Agricultural Research and Development Center. Salaries and research support for this project was provided by State and Federal Funds appropriated to the Ohio Agricultural Research and Development Center, The Ohio State University and the National Institute of Food and Agriculture, USDA, Hatch projects Development of Disease Management Strategies for Soybean Pathogens in Ohio OHO01303 and Genetic Analysis of Soybean Added-Value Traits and Soybean Variety Development for Ohio OHO01279.

A major quantitative trait locus (QTL) modulating soybean (Glycine max) branch angle was identified by linkage analysis using two bi-parental mapping populations with and without pedigree from wild soybean (Glycine soja). Soybean branch angle is a critical architectural trait that affects many other traits of agronomic importance associated with the plant’s productivity and grain yield and is thus a vital consideration in soybean breeding. However, the genetic basis for modulating this important trait in soybean and many other crops remain unknown. Previously, we developed a recombinant inbred line (RIL) population derived from a cross between a domesticated soybean (Glycine max) variety, Williams 82, and a wild soybean (Glycine soja) accession, PI 479,752, and observed drastic variation in plant architecture including branch angle among individual RILs. In this study, one of the RILs possessing extremely wide branch angle (WBA) was crossed with an elite soybean cultivar (LD00-3309) possessing narrow branch angle (NBA) to produce an F2 population composed of 147 plants and F2-derived F3 families for inheritance analysis and QTL mapping. We found that branch angle is controlled by a major QTL located on chromosome 19, designated qGmBa1 and that WBA—derived from the wild soybean accession—is dominant over NBA. This locus was also detected as a major one underlying branch angle by QTL mapping using a subset of the soybean nested association mapping (SoyNAM) population composed of 140 RILs, which were derived from a cross between a landrace, PI 437169B, possessing WBA and an elite variety, IA3023, possessing NBA. Molecular markers located in the QTL region defined by both mapping populations can be used for marker-assisted selection of branch angle in soybean breeding.

Funder: VTCT Foundation Fellowship, BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare genetic disease that affects structures derived from the first and second pharyngeal arches, mainly resulting in micrognathia and auricular malformations. To date, pathogenic variants have been identified in three genes involved in the EDN1-DLX5/6 pathway (PLCB4, GNAI3 and EDN1) and some cases remain unsolved. Here we studied a large unsolved four-generation family. METHODS: We performed linkage analysis, resequencing and Capture-C to investigate the causative variant of this family. To test the pathogenicity of the CNV found, we modelled the disease in patient craniofacial progenitor cells, including induced pluripotent cell (iPSC)-derived neural crest and mesenchymal cells. RESULTS: This study highlights a fourth locus causative of ARCND, represented by a tandem duplication of 430 kb in a candidate region on chromosome 7 defined by linkage analysis. This duplication segregates with the disease in the family (LOD score=2.88) and includes HDAC9, which is located over 200 kb telomeric to the top candidate gene TWIST1. Notably, Capture-C analysis revealed multiple cis interactions between the TWIST1 promoter and possible regulatory elements within the duplicated region. Modelling of the disease revealed an increased expression of HDAC9 and its neighbouring gene, TWIST1, in neural crest cells. We also identified decreased migration of iPSC-derived neural crest cells together with dysregulation of osteogenic differentiation in iPSC-affected mesenchymal stem cells. CONCLUSION: Our findings support the hypothesis that the 430 kb duplication is causative of the ARCND phenotype in this family and that deregulation of TWIST1 expression during craniofacial development can contribute to the phenotype.

Soybean [Glycine max (L.) Merr.] is widely planted in the world, and provides most of the plant protein and oil for humans. Fresh pod and seed are the basic harvested organs in vegetable soybean production, and are important characteristics in vegetable variety registration and product export. To dissect the genetic basis of fresh pod and seed, one RIL population was analyzed for eight related traits under four environments. Eight QTL clusters were detected on seven chromosomes with phenotypic variation explained (PVE) 5.28–17.30% under multiple environments or conferring diverse traits, and six were demonstrated by BLUP values. One pleiotropism QTL on chromosome 20 with PVEs 8.92–17.30% was linked with fresh pod weight, fresh seed weight, length and area under multiple environments, and was verified by BLUP values with PVEs 12.07–16.81%. Moreover, significant phenotype differences between favorable and unfavorable alleles demonstrated these linkage QTLs. The significant correlations of QTL markers for fresh pod length and large-pod phenotype (pod length ≥ 4.5 cm, the criterion for vegetable variety registration and product export) were identified, which provided selection markers for large-pod identification. Further analysis showed that the large-pod RIL parent “C813” possessed six favorable alleles of linked QTLs, and the elite line “L-63” possessed all of the eight favorable alleles, which presented the best phenotypes in the population. Based on these, the candidate genes were identified to present different expressions between RIL parents at different pod developmental-stages. Thus, these QTLs and candidate genes provided novel insights into the genetic basis for vegetable soybean fresh pod and seed in breeding program.

Attention Deficit-Hyperactivity Disorder (ADHD) is a complex psychiatric and neurodevelopmental disorder that develops during childhood and spans into adulthood. ADHD’s aetiology is complex, and evidence about its cause and risk factors is limited. We leveraged genetic data from genome-wide association studies (GWAS) and performed latent causal variable analyses using a hypothesis-free approach to infer causal associations between 1387 complex traits and ADHD. We identified 37 inferred potential causal associations with ADHD risk. Our results reveal that genetic variants associated with iron deficiency anemia (ICD10), obesity, type 2 diabetes, synovitis and tenosynovitis (ICD10), polyarthritis (ICD10), neck or shoulder pain, and substance use in adults display partial genetic causality on ADHD risk in children. Genetic variants associated with ADHD have a partial genetic causality increasing the risk for chronic obstructive pulmonary disease and carpal tunnel syndrome. Protective factors for ADHD risk included genetic variants associated with the likelihood of participating in socially supportive and interactive activities. Our results show that genetic liability to multiple complex traits influences a higher risk for ADHD, highlighting the potential role of cardiometabolic phenotypes and physical pain in ADHD’s aetiology. These findings have the potential to inform future clinical studies and development of interventions.

Drought tolerance in rice is controlled by several genes and is inherited quantitatively. Low genetic map density and the use of phenotypic traits that do not reflect the corresponding tolerance level have been obstacles in genetic analyses performed to identify genes that control drought-tolerant traits in rice. The current study aimed to construct a genetic map from high-density single-nucleotide polymorphism (SNP) markers generated from genome sequences of recombinant inbred lines (RILs), derived from IR64 × Hawara Bunar. Moreover, it sought to analyze the quantitative trait loci (QTL) and identify the drought tolerance candidate genes. A linkage map along 1980 cM on the 12 rice chromosomes was constructed employing 55,205 SNP markers resulting from the RIL genome sequences. A total of 175 morpho-physiological traits pertaining to drought stress were determined. A total of 41 QTLs were detected in 13 regions on rice chromosomes 1, 3, 6, 8, 9, and 12. Moreover, three hotspot QTL regions were found on chromosomes 6 and 8, along with two major QTL on chromosome 9. Differential gene expression for the loci within the QTL physical map intervals revealed many potential candidate genes. The markers tightly linked to the QTL and their candidate genes can potentially be used for pyramiding in marker-assisted breeding in order to achieve genetic improvement concerning the tolerance of rice to drought stress. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12298-021-01095-y.

Purpose: Prostatic ductal adenocarcinoma (PDA) is recognized as an advanced stage cancer and is often observed in conjunction with acinar adenocarcinoma, with abundant cytoplasm arranged in a papillary pattern. When compared with acinar adenocarcinoma, it is characterized by an increased biochemical recurrence rate and unusual metastasis sites. The purpose of the present study was to further elucidate the genomic alterations associated with PDA. Methods: Whole-exome sequencing (WES) and linkage analyses were performed on genomic DNA isolated from formalin-fixed, paraffin-embedded (FFPE) samples obtained from eleven PDA tumors and paired benign tissues. The profiles of somatic mutations, indels as well as copy-number alterations were confirmed in PDA patients. The clonal evolution patterns of the eleven PDA cases were compared with the data obtained from the Cancer Genome Atlas (TCGA) for eight primary prostatic acinar adenocarcinoma patients. Results: The same somatic changes were observed in PDA as in advanced and/or metastatic acinar adenocarcinomas. For example, the mutations of a known prostate cancer driver gene CDKN1A, were the most significant events among 17% of tumors. In addition to the known amplification of chromosomes 1q, 4p, 8q, and 14q, the copy number of several large regions also increased significantly. The origin of PDA was heterogeneous: some patients (e.g. P5) were consistent with the monoclonal model, while others (e.g. P7) were polyclonal. Conclusions: PDA and acinar adenocarcinomas of prostate with high Gleason score have similar mutational profiles. The somatic mutations in PDA may be the reason for its invasive biological behavior.

Due to its fast deterioration, soybean (Glycine max L.) has an inherently poor seed vigor. Vigor loss occurring during storage is one of the main obstacles to soybean production in the tropics. To analyze the genetic background of seed vigor, soybean seeds of a recombinant inbred line (RIL) population derived from the cross between Zhonghuang24 (ZH24, low vigor cultivar) and Huaxia3hao (HX3, vigorous cultivar) were utilized to identify the quantitative trait loci (QTLs) underlying the seed vigor under −20 °C conservation and accelerated aging conditions. According to the linkage analysis, multiple seed vigor-related QTLs were identified under both −20 °C and accelerated aging storage. Two major QTLs and eight QTL hotspots localized on chromosomes 3, 6, 9, 11, 15, 16, 17, and 19 were detected that were associated with seed vigor across two storage conditions. The indicators of seed vigor did not correlate well between the two aging treatments, and no common QTLs were detected in RIL populations stored in two conditions. These results indicated that deterioration under accelerated aging conditions was not reflective of natural aging at −20 °C. Additionally, we suggest 15 promising candidate genes that could possibly determine the seed vigor in soybeans, which would help explore the mechanisms responsible for maintaining high seed vigor.

Litchi chinensis Sonn is widely cultivated in subtropical regions and has an important economic value. A high-density genetic map is a valuable tool for mapping quantitative trait loci (QTL) and marker-assisted breeding programs. In this study, a single nucleotide polymorphism (SNP)-based high-density linkage map was constructed by a genotyping-by-sequencing (GBS) protocol using an F1 population of 178 progenies between two commercial litchi cultivars, ‘Ziniangxi’ (dwarf) and ‘Feizixiao’ (vigorous). The genetic map consisted of 3027 SNP markers with a total length of 1711.97 cM in 15 linkage groups (LGs) and an average marker distance of 0.57 cM. Based on this high-density linkage map and three years of phenotyping, a total of 37 QTLs were detected for eight dwarf-related traits, including length of new branch (LNB), diameter of new branch (DNB), length of common petiole (LCP), diameter of common petiole (DCP), length of internode (LI), length of single leaf (LSL), width of single leaf (WSL), and plant height (PH). These QTLs could explain 8.0 to 14.7% (mean=9.7%) of the phenotypic variation. Among them, several QTL clusters were observed, particularly on LG04 and LG11, which might show enrichment for genes regulating the dwarf-related traits in litchi. There were 126 candidate genes identified within the QTL regions, 55 of which are differentially expressed genes by RNA-seq analysis between ‘Ziniangxi’ and ‘Feizixiao’. These DEGs were found to participate in the regulation of cell development, material transportation, signal transduction, and plant morphogenesis, so they might play important roles in regulating plant dwarf-related traits. The high-density genetic map and QTLs identification related to dwarf traits can provide a valuable genetic resource and a basis for marker-assisted selection and genomic studies of litchi.

© 2021, The Author(s), under exclusive licence to Springer Nature B.V.Background: Zinc (Zn) deficiency is a widespread problem in reducing the yield and quality of crop plants worldwide. It is important to utilize molecular markers linked to Zn efficiency to develop high Zn efficient cultivars in pepper (Capsicum annuum L.). Methods and results: In present study, genetic map was constructed using a F2 populations derived from C. annuum L. (Alata 21A) × C. frutescens L. (PI 281420) cross. The quantitative trait locus (QTLs) for Zn efficiency were mapped using F2:3 population. A genetic map with 929.6 cM in length and 12 linkage groups were obtained using 62 markers (31 sequence-related amplified polymorphism (SRAP), 19 simple sequence repeat (SSR) and 11 random amplified polymorphic DNA (RAPD) markers). The 41 linked QTLs related with nine (9) Zn efficiency characters were mapped on linkage groups. Results suggest that selecting plants for tolerance to Zn deficiency are expected to be rather responsive among segregating populations for breeding and developing Zn efficient genotypes in pepper. Conclusions: The molecular markers are expected to aid selection and expedite breeding peppers resistant to Zn deficiency in soils low for available Zn contents.

As one of the most important part of the ideal plant type of japonica rice, leaf shape affects the photosynthesis and carbohydrate accumulation directly. Mining and using new leaf shape related genes/QTLs can further enrich the theory of molecular breeding and accelerate the breeding process of japonica rice. In the present study, 2 RILs and a natural population with 295 japonica rice varieties were used to map QTLs for flag leaf length (FL), flag leaf width (FW) and flag leaf area (FLA) by linkage analysis and genome-wide association study (GWAS) through 2 years. A total of 64 QTLs were detected by 2 ways, and pleiotropic QTLs qFL2 (Chr2_33,332,579) and qFL10 (Chr10_10,107,835; Chr10_10,230,100) consisted of overlapping QTLs mapped by linkage analysis and GWAS through 2 years were identified. The candidate genes LOC_Os02g54254, LOC_Os02g54550, LOC_Os10g20160, LOC_Os10g20240, LOC_Os10g20260 were obtained, filtered by linkage disequilibrium (LD), and haplotype analysis. LOC_Os10g20160 (SD-RLK-45) showed outstanding characteristics in quantitative real-time PCR (qRT-PCR) analysis in leaf development period, belongs to S-domain receptor-like protein kinases gene and probably to be a main gene regulating flag leaf width of japonica rice. The results of this study provide valuable resources for mining the main genes/QTLs of japonica rice leaf development and molecular breeding of japonica rice ideal leaf shape.

Vitamin A deficiency is a worldwide public nutrition problem, and β-carotene is the precursor for vitamin A synthesis. Watermelon with golden flesh (gf, due to accumulated abundance of β-carotene) is an important germplasm resource. In this study, a genetic analysis of gf segregating populations indicated that gf was controlled by a single recessive gene. BSA-seq and an initial linkage analysis placed the gf locus in a 290-Kb region on watermelon chromosome 1. Further fine mapping in a large population with over 1,000 F2 plants narrowed this region to 39.08 Kb harboring two genes, Cla97C01G008760 and Cla97C01G008770, which encode phytoene synthase (ClPsy1) and GATA zinc finger domain-containing protein, respectively. Gene sequence alignment and expression analysis between parental lines revealed Cla97C01G008760 as the best possible candidate gene for gf trait. Nonsynonymous SNP mutations in the first exon of ClPsy1 between parental lines cosegregated with the gf trait only among individuals in the genetic population but were not related to flesh color in natural watermelon panels. Promoter sequence analysis of 26 watermelon accessions revealed two SNPs in the cis-acting element sequences corresponding to MYB and MYC2 transcription factors. RNA-seq data and qRT-PCR verification showed that two MYBs and one MYC2 exhibited expression trends similar as ClPsy1 in the parental lines, which may thus play roles in the regulation of ClPsy1 expression. Our research findings indicate that the gf trait is determined not only by ClPsy1 but also by ClLCYB, ClCRTISO and ClNCED7, which play important roles in β-carotene accumulation in watermelon flesh.

Grain number per spikelet (GNS) is a key determinant of grain yield in wheat. A recombinant inbred line population comprising 300 lines was developed from a cross between a high GNS variety H461 and Chinese Spring from which the reference genome assembly of bread wheat was obtained. Both parents and the recombinant inbred lines were genotyped using the wheat 55K single nucleotide polymorphism (SNP) array. A high-density genetic map containing 21,197 SNPs was obtained. These markers covered each of the 21 chromosomes with a total linkage distance of 3792.71 cM. Locations of these markers in this linkage map were highly consistent with their physical locations in the genome assembly of Chinese Spring. The two parents and the whole RIL population were assessed for GNS in two consecutive years at two different locations. Based on multi-environment phenotype data and best liner unbiased prediction values, three quantitative trait loci (QTL) for GNS were identified. One of them located on chromosomes 2B and the other two on 2D. Phenotypic variation explained by these loci varied from 3.07% to 26.57%. One of these QTL, QGns.sicau-2D-2, was identified in each of all trials conducted. Based on the best linear unbiased prediction values, this locus explained 19.59%–26.57% of phenotypic variation. A KASP (Kompetitive Allele-Specific PCR) marker closely linked with this locus was generated and used to validate the effects of this locus in three different genetic backgrounds. The identified QTL and the KASP marker developed for it will be highly valuable in fine-mapping the locus and in exploiting it for marker-assisted selection in wheat breeding programs.

The ratoon stunting disease (RSD) of sugarcane, caused by the bacterium Leifsonia xyli subsp. xyli, is one of the major concerns to sugarcane production and breeding programs worldwide. Due to no obvious external symptoms, RSD cannot be easily detected by the growers, hence has reduced the world’s sugarcane production significantly. This study aimed to identify quantitative trait loci (QTL) associated with RSD resistance and to assist in the development of linked molecular markers for marker-assisted breeding to minimize the reduction in sugarcane yield by the RSD infection. A set of 146 individuals derived from a self-crossing of CP80-1827 were evaluated for RSD resistance in a mechanically duplicated inoculated field trial from 2014 to 2017 using tissue blot immunoassay. Leveraging the genetic data and the four years phenotyping data of CP80-1827 selfing population, linkage map construction and QTL analysis were conducted based on clonal F1 and F2 mapping population types with GACD V.1.2 and IciMapping V.3.3, respectively. A total of 23 QTL associated with RSD resistance were identified, which explained 6% to 13% of the phenotypic variation with the two types of software. A total of 82 disease resistance genes were identified by searching these 23 QTL regions on their corresponding regions on the Sorghum bicolor genome (44 genes), sugarcane R570 genome (20 genes), and S. spontaneum genome (18 genes), respectively. Compared with IciMapping V.3.3, GACD V.1.2 identified more major (6 vs. 3) and stable QTL (2 vs. 0), and more disease resistance genes (51 vs. 31), indicating GACD V.1.2 (clonal F1 mapping type) is most likely to be more efficient than IciMapping (F2 mapping type) for QTL analysis of a sefling population or clonal F1 population in clonal species. The identified QTL controlling RSD resistance along with the associated SNP markers will assist sugarcane molecular breeding programs in combating this disease.

Wheat powdery mildew, caused by Blumeria graminis f. sp. tritici, is a devastating disease that threatens yield and quality. Host resistance is considered the most effective and preferred means to control this disease. Wheat landrace Duanganmang (DGM) showed high resistance or near immunity to Blumeria graminis f. sp. tritici mixture from Henan Province, China. DGM was crossed with highly susceptible Chinese wheat landrace Huixianhong (HXH) and cultivar ‘Shimai 15’ (SM15) to produce genetic populations. The resistance of DGM to Blumeria graminis f. sp. tritici isolate E09 was shown to be controlled by a single dominant Mendelian factor, tentatively designated PmDGM. Marker analysis and 55K single nucleotide polymorphism (SNP) array scanning showed that this gene was positioned in the Pm5 interval (2.4 cM or 1.61 Mb) flanked by Xhenu099 and Xmp1158 in the Chinese Spring reference genome. Homology-based cloning and sequence analysis demonstrated that DGM has the identical NLR gene (Pm5e) and RXL gene reported in Fuzhuang 30 (FZ30), conferring and modifying powdery mildew resistance, respectively. However, based on the different reaction patterns to the Blumeria graminis f. sp. tritici isolate B15 between DGM and FZ30, the authors speculate that DGM may have two tightly linked genes that could not be separated in the current mapping population, one of which is PmDGM and the other being Pm5e. Hence, this study provides a valuable resistance resource for improvement of powdery mildew resistance.