MalaCards based summary : Mean Platelet Volume/count Quantitative Trait Locus 5, is also known as mean platelet volume qtl5. An important gene associated with Mean Platelet Volume/count Quantitative Trait Locus 5 is MPVQTL5 (Mean Platelet Volume QTL5 ...

Coffee Berry Disease (CBD) is a major constraint that limits Coffea arabica production, whose resistance is governed by three genes, T, R that are dominant and recessive k in varieties Hibrido de Timor (HDT), Rume Sudan (RS) and K7 respectively. This study identified the genomic region occupied by R-gene using F2 genotypes from varieties RS and SL28; and Single Nucleotide Polymorphic (SNP) markers obtained through Genotyping by Sequencing. Redundant markers were removed and 699 markers obtained for linkage mapping and quantitative trait loci (QTL) analysis. The Linkage map spread over 5525.39 cM across eleven coffee chromosomes (Chr). The QTL was analyzed by both Interval Mapping (IM) and Inclusive Composite Interval Mapping (ICIM) using SNP markers and CBD resistance mean scores of the F2 genotypes and their parents. Three QTLs, qCBD 1-1 in Chr 1, qCBD 2-1 and qCBD 2-2 in Chr 2 were significantly associated with CBD resistance, detected by both IM and ICIM at LOD ≥ 2.5 (P≤0.05).  Two

Quantitative resistance of Salix to Melampsora larici--epitea leaf rust was studied in 2 Salix mapping populations. One population was a backcross between a S, schwerinii x S. viminalis hybrid and S. viminalis, and the other was all F-2 population between S. viminalis and S. dasyclados. A leaf disc bioassay was used to study the components of quantitative resistance (latent period, uredinia number, and uredinia size) to 3 isolates of the leaf rust. The analysis of quantitative trait loci (QTLs) revealed 9 genomic regions in the backcross population and 7 genomic regions in the F-2 population that were important for rust resistance, with QTLs explaining 8-26% of the phenotypic variation. An important genomic region was identified for the backcross population in linkage group 2, where QTLs were identified for all resistance components for 2 of the rust isolates. Four of the QTLs had overlapping mapping intervals, demonstrating a common genetic background for latent period, uredinia diameter, and ...

TY - JOUR. T1 - A polymerase chain reaction-based linkage map of broccoli and identification of quantitative trait loci associated with harvest date and head weight. AU - Brown, Allan F.. AU - Jeffery, Elizabeth H.. AU - Juvik, John A.. N1 - Copyright: Copyright 2020 Elsevier B.V., All rights reserved.. PY - 2007/7. Y1 - 2007/7. N2 - A set of 216 polymerase chain reaction-based molecular markers was screened for polymorphisms using two morphologically dissimilar broccoli (Brassica oleracea L. ssp. italica Plenck) lines, VI-158 and Brocolette Neri E. Cespuglio. Fifty-nine of these simple sequence repeat (SSR) and sequence-related amplified polymorphic (SRAP) primer pairs generated 69 polymorphisms that were used to construct a linkage map of broccoli from a population of 162 F2:3 families derived from the cross between these two lines. Ten linkage groups were generated that spanned a distance of 468 cM with an average interval width of 9.4 cM. The map was used to identify quantitative trait ...

Limb bone lengths and bone mineral density (BMD) have been used to assess the bone growth and the risk of bone fractures in pigs, respectively. It has been suggested that limb bone lengths and BMD are under genetic control. However, the knowledge about the genetic basis of the limb bone lengths and mineralisatinon is limited in pigs. The aim of this study was to identify quantitative trait loci (QTL) affecting limb bone lengths and BMD of the distal femur in a White Duroc × Erhualian resource population. Limb bone lengths and femoral bone mineral density (fBMD) were measured in a total of 1021 and 116 F2 animals, respectively. There were strong positive correlations among the lengths of limb bones and medium positive correlations between the lengths of limb bones and fBMD. A whole-genome scan involving 183 microsatellite markers across the pig genome revealed 35 QTL for the limb bone lengths and 2 for femoral BMD. The most significant QTL for the lengths of five limb bones were mapped on two

TY - JOUR. T1 - Regulatory Network Identification by Genetical Genomics: Signaling Downstream of the Arabidopsis Receptor-Like Kinase ERECTA. AU - Terpstra, I.R.. AU - Snoek, L.B.. AU - Keurentjes, J.J.B.. AU - Peeters, A.J.M.. AU - van den Ackerveken, G.. PY - 2010. Y1 - 2010. N2 - Gene expression differences between individuals within a species can be largely explained by differences in genetic background. The effect of genetic variants (alleles) of genes on expression can be studied in a multifactorial way by application of genetical genomics or expression quantitative trait locus (eQTL) mapping. In this paper we present a strategy to construct regulatory networks by application of genetical genomics in combination with transcript profiling of mutants that are disrupted in single genes. We describe the network identification downstream of the receptor-like kinase ERECTA in Arabidopsis (Arabidopsis thaliana). Extending genetical genomics on the Landsberg erecta/Cape Verde islands (Ler/Cvi) ...

In previous work, we identified genetic correlations between cAMP accumulation in the cerebellum and sensitivity to the incoordinating effects of ethanol. A genetic correlation suggests that common genes underlie the phenotypes investigated. One method for provisionally identifying genes involved in a given phenotypic measure is quantitative trait locus (QTL) analysis. Using a panel of 30 BXD recombinant inbred strains of mice and the progenitors (DBA/2J and C57BL/6J), and the dowel test for ataxia, we measured the blood ethanol concentrations at the time an animal first fell from the dowel and acute functional tolerance (AFT), and investigated cAMP signaling in the cerebellum. Cyclic AMP accumulation was measured in whole-cell preparations of cerebellar minces from individual mice under basal or stimulated conditions. We conducted a genome-wide QTL analysis of the behavioral and biochemical measures with >2000 genetic markers to identify significant associations. Western blot and comparative ...

Fusarium graminearum causes Fusarium head blight (FHB), a major disease problem worldwide. Resistance to FHB is controlled by quantitative trait loci (QTL) of which two are located on barley chromosomes 2H bin8 and 6H bin7. The mechanisms of resistance mediated by FHB QTL are poorly defined. Near-isogenic lines (NILs) carrying Chevron-derived resistant alleles for the two QTL were developed and exhibited FHB resistance in field trials. To understand the molecular responses associated with resistance, transcriptomes of the NILs and recurrent parents (M69 and Lacey) were investigated with RNA sequencing (RNA-Seq) after F. graminearum or mock inoculation. A total of 2083 FHB-responsive transcripts were detected and provide a gene expression atlas for the barley-F. graminearum interaction. Comparative analysis of the 2Hb8 resistant (R) NIL and M69 revealed that the 2Hb8 R NIL exhibited an elevated defense response in the absence of fungal infection and responded quicker than M69

TY - JOUR. T1 - Quantitative trait loci and molecular markers associated with wheat allelopathy. AU - Wu, Hanwen. AU - Pratley, James. AU - Ma, W. AU - Haig, Terrence. N1 - Imported on 12 Apr 2017 - DigiTool details were: Journal title (773t) = Theoretical and Applied Genetics: international journal of plant breeding research. ISSNs: 0040-5752; PY - 2003. Y1 - 2003. N2 - Wheat (Triticum aestivum L.) has been examined for allelopathic potential against annual ryegrass (Lolium rigidum). The bioassay technique, equal-compartment-agar-method, was employed to evaluate seedling allelopathy in a doubled-haploid (DH) population derived from cv Sunco (weakly allelopathic) and cv Tasman (strongly allelopathic). A significant difference in allelopathic activity was found among the DH lines, which inhibited the root length of ryegrass across a range from 23.7 to 88.3%. The phenotypic data showed that wheat allelopathic activity was distributed normally within this DH population and a substantial ...

In dairy cattle, quantitative trait nucleotides (QTNs) underlying quantitative trait loci (QTL) for milk production traits have been identified in bovine DGAT1, GHR and ABCG2 genes. The SPP1 gene has also been proposed to be a regulator of lactation. In sheep, QTL underlying milk production traits h …

3C technologies have enabled studies of the dynamics of high-order chromatin structures and long-range chromatin interactions (26-30). However, how these long-range interactions contribute to biological processes and human diseases is not well understood. Our research has focused on an enhancer containing the PCa risk-associated rs55958994 SNP, integrating higher-order chromatin structure data, gene expression profiling, and functional assays. Our results suggest that the rs55958994-containing enhancer regulates PCa progression through long-range interactions with multiple genes. Among these genes, ITGA5, CDH23, and CNTN1 were verified to be both regulated by the rs55958994-containing enhancer and associated with PCa progression; deletion of the enhancer region in PCa cells induced down-regulation of these target genes and led to defects in tumor initiation and migration and loss of CSCs.. Previous eQTL (expression quantitative trait locus) analyses suggested that rs55958994 is linked to KRT8 ...

Shirali M., Miraei‐Ashtiani S.R., Pakdel A., Haley C., Navarro P. and Pong‐Wong R, 2015, A Comparison of the Sensitivity of the BayesC and Genomic Best Linear Unbiased Prediction (GBLUP) Methods of Estimating Genomic Breeding Values under Different Quantitative Trait Locus (QTL) Model Assumptions, Iranian Journal of Applied Animal Science, 5(1), 41-46 Shirali M., Miraei‐Ashtiani S.R., Pakdel A., Haley C., Navarro P. and Pong‐Wong R, 2015, A Comparison of the Sensitivity of the BayesC and Genomic Best Linear Unbiased Prediction (GBLUP) Methods of Estimating Genomic Breeding Values under Different Quantitative Trait Locus (QTL) Model Assumptions, Iranian Journal of Applied Animal Science, 5(1), 41-46

BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is associated with obesity and the metabolic syndrome and affects over one third of American adults. A subset of NAFLD patients develop advanced disease associated with liver injury, scar tissue (fibrosis), and cirrhosis, increasing risk for liver-related mortality, including primary liver cancer. Several genes have been associated with NAFLD, but determination of their function in the disease process has been difficult. We hypothesized that expression quantitative trait loci (eQTL) analysis would improve the identification of causally related genetic variants by integrating single nucleotide polymorphisms (SNPs) with gene expression. METHODS: Patients with biopsy-proven NAFLD were selected based on fibrosis stage (mild NAFLD: stage F0-F1 vs. advanced NAFLD: stage F3-F4). Genomic data, including genotype (Cardiometabolic SNP array, Illumina), methylation (Human Methylation450 BeadChip, Illumina) and expression (Human U133 Plus 2.0 GeneChip, ...

ILs and advanced backcross QTL approaches are now well-established tools for dissecting the genetic basis of complex polygenic traits in plant populations. In this study, S. pennellii ILs were used to identify a fruit firmness QTL located to an 8.6-Mb region on tomato chromosome 2. A prior study had identified a firmness QTL, fir2.1 in Solanum pimpinellifolium (Doganlar et al., 2002), mapping within this region. Conservation of QTLs within the Solanaceace family has been demonstrated for a number of traits including fruit size, shape, and weight (Saliba-Colombani et al., 2001; Frary et al., 2004). However, QTL fir2.1 in S. pimpinellifolium has not been further resolved by fine-mapping. In this work, we have used a composite mapping population of M82 × IL 2-3 F2 and M82 × IL 2-4 F3 to resolve the S. pennellii firmness QTL on chromosome 2 and report that at least several major firmness effects occur within a mapping interval of approximately 8.6 Mb, delineated by markers CT255 and TG527. Other ...

CONTEXT: Recently, a quantitative trait locus for stature was reported on chromosome 3p26 in patients with type 2 diabetes. OBJECTIVE: Given that ghrelin is a peptide involved in GH release and located on 3p26, we hypothesized that variation within its gene (GHRL) may be responsible for the quantitative trait locus on 3p26. DESIGN: The evidence for linkage around GHRL was refined with the genotyping of an additional four microsatellites (D3S4545, D3S1537, D3S1597, and D3S3611), giving a total of 27 markers, followed by multipoint variance components linkage analysis. Probands from the linkage families were typed for five common single nucleotide polymorphisms (SNPs) within GHRL and tested for association with adult stature using haplotype trend regression. RESULTS: The maximum multipoint evidence for linkage between adult stature and the 27 microsatellites yielded an LOD score of 2.58 (P = 0.0003) between D3S1297 and D3S1304. Five common (frequency of | or =5%) SNPs were typed in the probands [two

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作 者：Kun Li, Hongwu Wang, Xiaojiao Hu, Feiqian Ma, Yujin Wu, Qi Wang, Zhifang Liu, and Changling Huang. 影响因子: 4.298. 刊物名称: Frontiers in plant science. 出版年份: 2017. 卷: 8 期:24 August 页码: 1472. 文章摘要 : The plant cell wall plays vital roles in various aspects of the plant life cycle. It provides a basic structure for cells and gives mechanical rigidity to the whole plant. Some complex cell wall components are involved in signal transduction during pathogenic infection and pest infestations. Moreover, the lignification level of cell walls strongly influences the digestibility of forage plants. To determine the genetic bases of cell wall components and digestibility, quantitative trait locus (QTL) analyses for six related traits were performed using a recombinant inbred line (RIL) population from a cross between Zheng58 and HD568. Eight QTL for in vitro neutral detergent fiber (NDF) digestibility were observed, out of which only two increasing alleles came ...

Abundant contribution of short tandem repeats to gene expression variation in humans Melissa Gymrek , Thomas Willems , Haoyang Zeng , Barak Markus , Mark J Daly , Alkes L Price , Jonathan Pritchard , Yaniv Erlich doi: http://dx.doi.org/10.1101/017459 Expression quantitative trait loci (eQTLs) are a key tool to dissect cellular processes mediating complex diseases.…

The genetic architecture of plant defense against microbial pathogens may be influenced by pathogen lifestyle. While plant interactions with biotrophic pathogens are frequently controlled by the action of large-effect resistance genes that follow classic Mendelian inheritance, our study suggests that plant defense against the necrotrophic pathogen Botrytis cinerea is primarily quantitative and genetically complex. Few studies of quantitative resistance to necrotrophic pathogens have used large plant mapping populations to dissect the genetic structure of resistance. Using a large structured mapping population of Arabidopsis thaliana, we identified quantitative trait loci influencing plant response to B. cinerea, measured as expansion of necrotic lesions on leaves and accumulation of the antimicrobial compound camalexin. Testing multiple B. cinerea isolates, we identified 23 separate QTL in this population, ranging in isolate-specificity from being identified with a single isolate to controlling ...

Argentina has a long tradition of sunflower breeding, and its germplasm is a valuable genetic resource worldwide. However, knowledge of the genetic constitution and variability levels of the Argentinean germplasm is still scarce, rendering the global map of cultivated sunflower diversity incomplete. In this study, 42 microsatellite loci and 384 single nucleotide polymorphisms (SNPs) were used to characterize the first association mapping population used for quantitative trait loci mapping in sunflower, along with a selection of allied open-pollinated and composite populations from the germplasm bank of the National Institute of Agricultural Technology of Argentina. The ability of different kinds of markers to assess genetic diversity and population structure was also evaluated. The analysis of polymorphism in the set of sunflower accessions studied here showed that both the microsatellites and SNP markers were informative for germplasm characterization, although to different extents. In general, the

Background Modern watermelon (Citrullus lanatus L.) cultivars share a narrow genetic base due to many years of selection for desirable horticultural qualities. Wild subspecies within C. lanatus are important potential sources of novel alleles for watermelon breeding, but successful trait introgression into elite cultivars has had limited success. The application of marker assisted selection (MAS) in watermelon is yet to be realized, mainly due to the past lack of high quality genetic maps. Recently, a number of useful maps have become available, however these maps have few common markers, and were constructed using different marker sets, thus, making integration and comparative analysis among maps difficult. The objective of this research was to use single-nucleotide polymorphism (SNP) anchor markers to construct an integrated genetic map for C. lanatus. Results Under the framework of the high density genetic map, an integrated genetic map was constructed by merging data from four independent ...

Schizophrenia is a complex, highly heritable and heterogeneous disease with estimated heritability ranging up to 80%. It affects approximately 0.5-1% of the world population. During the past decade, numerous schizophrenia-associated variants and loci in world-wide populations have been identified, but most of the risk single-nucleotide polymorphisms (SNPs) or variants identified by GWASs were located in intergenic, intronic or other non-coding regions. To identify the causal genes at the reported risk loci and to elucidate how these risk genes influence the pathogenesis of schizophrenia remains a daunting task. Previous studies showed that most complex disease-associated variants confer risk for the illnesses by acting as eQTL to influence gene expression in cis or in trans. By integrating a large-scale schizophrenia GWAS data and brain prefrontal cortex expression quantitative trait loci (eQTL) data, a team of scientists from the Kunming Institute of Zoology (KIZ) of the Chinese Academy of ...

Brassica napus L. is a widely cultivated oil crop and provides important resources of edible vegetable oil, and its quality is determined by fatty acid composition and content. To explain the genetic basis and identify more minor loci for fatty acid content, the multi-locus random-SNP-effect mixed linear model (mrMLM) was used to identify genomic regions associated with fatty acid content in a genetically diverse population of 435 rapeseed accessions, including 77 winter-type, 55 spring-type, and 303 semi-winter-type accessions grown in different environments. A total of 149 quantitative trait nucleotides (QTNs) were found to be associated with fatty acid content and composition, including 34 QTNs that overlapped with the previously reported loci, and 115 novel QTNs. Of these, 35 novel QTNs, located on chromosome A01, A02, A03, A05, A06, A09, A10, and C02, respectively, were repeatedly detected across different environments. Subsequently, we annotated 95 putative candidate genes by BlastP ...

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We have investigated genetic interactions between spontaneous mutations affecting abdominal and sternopleural bristle number that have accumulated in 12 long-term selection lines derived from an inbred strain, and mutations at 14 candidate bristle number quantitative trait loci. The quantitative test for complementation was to cross the selection lines to an inbred wild-type strain (the control cross) and to a derivative of the control strain into which the mutant allele at the candidate locus to be tested was substituted (the tester strain). Genetic interactions between spontaneous mutations affecting bristle number and the candidate locus mutations were common, and in several cases the interaction effects were different in males and females. Analyses of variance of the (tester - control) differences among and within groups of replicate lines selected in the same direction for the same trait showed significant group effects for several candidate loci. Genetically, the interactions could be ...

THIS PROPOSED RESEARCH REPRESENTS A UNIQUE COMBINATION OF TECHNOLOGIES AND SUBSEQUENT OPPORTUNITY TO EXAMINE THE MOLECULAR BASIS OF TRAITS EXHIBITING QUANTITATIVE EXPRESSIONAND INHERITANCE. IT HAS BEEN OBSERVED THAT THERE ARE OFTEN STRONG ASSOCIATIONS BETWEEN PATTERNS OF VARIATION OF ISOZYME MARKERS AND PLANT MORPHOLOGICAL CHARACTERS WHICH SHOW QUANTITATIVE INHERITANCE. RECENTLY, HELENTJARIS, EDWARDS, AND STUBER (UNPUBLISHED DATA) HAVE EXTENDED THIS TYPE OF ANALYSIS USING RESTRICTION FRAGMENT LENGTH POLYMORPHISMS (RFLP). SEVERAL RFLP LOCI WERE IDENTIFIED WHICH WERE PREDICTIVE FOR PLANT HEIGHT. ROBERTSON HAS SUGGESTED THAT GENETIC LOCI RESULTING IN DWARF PLANTS ARE GOOD CANDIDATES FOR LOCI INVOLVED IN THE QUANTITATIVE INHERITANCE OF PLANT HEIGHT. THE DWARF LOCUS, D3, MAPS IN ONE OF THE AREAS OF THE GENOME IDENTIFIED AS SIGNIFICANTLY CONTRIBUTING TO PLANT HEIGHT. WE PROPOSE TO TAKE ADVANTAGE OF THIS EASILY RECOGNIZABLE PHENOTYPE TO CLONE A DWARF ALLELE USING THE STRATEGY OF INSERTION MUTAGENESIS ...

A genome-wide association study (GWAS) was conducted to identify expression quantitative trait loci (eQTLs) for the genes involved in phosphatidylinositol-3-kinase/v-akt murine thymoma viral oncogene homolog (PI3K/AKT) pathway.Data on mRNA expression of 341 genes in lymphoblastoid cell lines of 373 Europeans recruited by the 1000 Genomes Project using Illumina HiSeq2000 were utilized. We used their genotypes at 5,941,815 nucleotide variants obtained by Genome Analyzer II and SOLiD.The association analysis revealed 4166 nucleotide variants associated with expression of 85 genes (P < 5 × 10). A total of 73 eQTLs were identified as association signals for the expression of multiple genes. They included 9 eQTLs for both of the genes encoding collagen type I alpha 1 (COL1A1) and integrin alpha 11 (ITGA11), which synthesize a major complex of plasma membrane. They also included eQTLs for type IV collagen molecules; 13 eQTLs for both collagen type IV alpha 1 (COL4A1) and collagen type IV alpha 2 ...

Annual fish of the genus Nothobranchius show large variations in lifespan and expression of age-related phenotypes between closely related populations. We studied N. kadleci and its sister species N. furzeri GRZ strain, and found that N.kadleci is longer-lived than the N. furzeri. Lipofuscin and apoptosis measured in the liver increased with age in N. kadleci with different profiles: lipofuscin increased linearly, while apoptosis declined in the oldest animals. More lipofuscin (P,0.001) and apoptosis (P,0.001) was observed in N. furzeri than in N. kadleci at 16w age. Lipofuscin and apoptotic cells were then quantified in hybrids from the mating of N. furzeri to N. kadleci. F₁individuals showed heterosis for lipofuscin but additive effects for apoptosis. These two age-related phenotypes were not correlated in F₂ hybrids. Quantitative trait loci analysis of 287 F₂ fish using 237 markers identified two QTL accounting for 10% of lipofuscin variance (P,0.001) with overdominance effect. ...

Individual kernel weight is an important trait for maize yield determination. We have identified genomic regions controlling this trait by using the B73xMo17 population; however, the effect of genetic background on control of this complex trait and its physiological components is not yet known. The objective of this study was to understand how genetic background affected our previous results. Two nested stable recombinant inbred line populations (N209xMo17 and R18xMo17) were designed for this purpose. A total of 408 recombinant inbred lines were genotyped and phenotyped at two environments for kernel weight and five other traits related to kernel growth and development. All traits showed very high and significant (P , 0.001) phenotypic variability and medium-to-high heritability (0.60−0.90). When N209xMo17 and R18xMo17 were analyzed separately, a total of 23 environmentally stable quantitative trait loci (QTL) and five epistatic interactions were detected for N209xMo17. For R18xMo17, 59 ...

TY - JOUR. T1 - Exploring hepsin functional genetic variation association with disease specific protein expression in bipolar disorder. T2 - Applications of a proteomic informed genomic approach. AU - Nassan, Malik. AU - Jia, Yun Fang. AU - Jenkins, Greg. AU - Colby, Colin. AU - Feeder, Scott. AU - Choi, Doo Sup. AU - Veldic, Marin D. AU - McElroy, Susan L.. AU - Bond, David J.. AU - Weinshilboum, Richard M. AU - Biernacka, Joanna M. AU - Frye, Mark A. PY - 2017/12/1. Y1 - 2017/12/1. N2 - In a prior discovery study, increased levels of serum Growth Differentiation Factor 15 (GDF15), Hepsin (HPN), and Matrix Metalloproteinase-7 (MMP7) were observed in bipolar depressed patients vs controls. This exploratory post-hoc analysis applied a proteomic-informed genomic research strategy to study the potential functional role of these proteins in bipolar disorder (BP). Utilizing the Genotype-Tissue Expression (GTEx) database to identify cis-acting blood expression quantitative trait loci (cis-eQTLs), five ...

Contrary to previous assumptions that most mutations are deleterious, there is increasing evidence for persistence of large-effect mutations in natural populations. A possible explanation for these observations is that mutant phenotypes and fitness may depend upon the specific environmental conditions to which a mutant is exposed. Here, we tested this hypothesis by growing large-effect flowering time mutants of Arabidopsis thaliana in multiple field sites and seasons to quantify their fitness effects in realistic natural conditions. By constructing environment-specific fitness landscapes based on flowering time and branching architecture, we observed that a subset of mutations increased fitness, but only in specific environments. These mutations increased fitness via different paths: through shifting flowering time, branching, or both. Branching was under stronger selection, but flowering time was more genetically variable, pointing to the importance of indirect selection on mutations through ...

|i|SLC30A8|/i| encodes zinc transporter 8 which is involved in packaging and release of insulin. Evidence for the association of|i| SLC30A8|/i| variants with type 2 diabetes (T2D) is inconclusive. We interrogated single nucleotide polymorphisms (SNPs) around|i| SLC30A8|/i| for association with T2D in high-risk, pedigreed individuals from extended Mexican American families. This study of 118 SNPs within 50 kb of the|i| SLC30A8|/i| locus tested the association with eight T2D-related traits at four levels: (i) each SNP using measured genotype approach (MGA); (ii) interaction of SNPs with age and sex; (iii) combinations of SNPs using Bayesian Quantitative Trait Nucleotide (BQTN) analyses; and (iv) entire gene locus using the gene burden test. Only one SNP (rs7817754) was significantly associated with incident T2D but a summary statistic based on all T2D-related traits identified 11 novel SNPs. Three SNPs and one SNP were weakly but interactively associated with age and sex, respectively. BQTN analyses could

Beamer WG, Shultz KL, Churchill GA, Frankel WN, Baylink DJ, Rosen CJ, Donahue LR. Quantitative trait loci for bone density in C57BL/6J and CAST/EiJ inbred mice. Mamm Genome. 1999 Nov;10(11):1043-9. PubMed 10556421 Ackert-Bicknell CL, Karasik D, Li Q, Smith RV, Hsu YH, Churchill GA, Paigen BJ, Tsaih SW. Mouse BMD quantitative trait loci show improved concordance with human genome-wide association loci when recalculated on a new, common mouse genetic map. J Bone Miner Res. 2010 Aug;25(8):1808-20. PubMed 20200990 ...

Mediators of Inflammation is a peer-reviewed, Open Access journal that publishes original research and review articles on all types of inflammatory mediators, including cytokines, histamine, bradykinin, prostaglandins, leukotrienes, PAF, biological response modifiers and the family of cell adhesion-promoting molecules.

Increasingly, baseline peripheral blood cell counts are implicated as risk factors for common complex diseases. While genetic influences on these hematologic parameters are firmly established, the gen

Non-insulin-dependent diabetes mellitus (NIDDM) is a prototypical multifactorial disease. Genetic predisposition and obesity are major risk factors for NIDDM development and the interactions between these factors are likely to be important in the eti

QTL mapping for plant-height traits has not been hitherto reported in high-oil maize. A high-oil maize inbred 'GY220' was crossed with two dent maize inbreds ('8984' and '8622') to generate two connected F2:3 populations. Four plant-height traits were evaluated in 284 and 265 F2:3 families. Single-trait QTL mapping and multiple-trait joint QTL mapping was used to detect QTLs for the traits and the genetic relationship between plant height (PH) and two other plant-height traits. A total of 28 QTLs and 12 pairs of digenic interactions among detected QTLs for four traits were detected in the two F2:3 families. Only one marker was shared between the two populations. Joint analysis of PH with ear height (EH) and PH with top height (TH) detected 32 additional QTLs. Our results showed that QTL detection for PH was dependent on the genetic background of dent corn inbreds. Multiple-trait joint QTL analysis could increase the number of detected QTLs ...

Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations. Analysing this set, we identify numerous gene-intersecting structural variants exhibiting population stratification and describe naturally occurring homozygous gene knockouts that suggest the dispensability of a variety of human genes. We demonstrate that structural variants are enriched on haplotypes identified by genome-wide association studies and exhibit enrichment for expression quantitative trait loci. Additionally, we uncover appreciable levels of structural variant complexity at different scales, including genic loci subject to clusters of repeated rearrangement and complex structural variants with multiple breakpoints ...

The study was conducted to investigate genetic variability among 113 aromatic and fine local rice genotypes of which five were exotic in origin. The test genotypes were evaluated for 19 growth traits, yield components, and yield. All the quantitative traits varied significantly among the test genotypes. High heritability along with high genetic advance was observed for flag leaf area, secondary branches per panicle, filled grains per panicle, grain length, grain breadth, grain length breadth ratio, and 1000 grain weight. Such findings suggested preponderance of additive gene action in gene expression for these characters. Grain yield was significantly and positively correlated with days to flowering, days to maturity, panicle length, filled grains per panicle, and 1000 grain weight. According to D2 cluster analysis, 113 test genotypes formed 10 clusters. Selection of parents from the clusters V and X followed by hybridization would possibly result in desirable heterosis for the development of ...

A range of rare and common genetic variants have been discovered to be potentially associated with mental diseases, but many more have not been uncovered. Powerful integrative methods are needed to systematically prioritize both variants and genes that confer susceptibility to mental diseases in personal genomes of individual patients and to facilitate the development of personalized treatment or therapeutic approaches. Leveraging deep neural network on the TensorFlow framework, we developed a computational tool, integrated Mental-disorder GEnome Score (iMEGES), for analyzing whole genome/exome sequencing data on personal genomes. iMEGES takes as input genetic mutations and phenotypic information from a patient with mental disorders, and outputs the rank of whole genome susceptibility variants and the prioritized disease-specific genes for mental disorders by integrating contributions from coding and non-coding variants, structural variants (SVs), known brain expression quantitative trait loci (eQTLs),

In a first-of-its-kind study, NC State researchers applied a new approach to examine how members of two different species - a plant and a pathogen, for example, or a bacterium and a human - interact at the molecular level, and whether slight genetic changes in one species could affect gene expression in the other.. In a paper published in the journal Genetics, NC State plant pathologists, biologists and statisticians use a genetic mapping method - expression quantitative trait locus, or eQTL, mapping - applied in a novel way to describe these interactions, opening the door for further work on these complex relationships.. Were really trying to get to the genetics behind the interactions between two different organisms, said David McK. Bird, a NC State plant pathology professor and co-corresponding author of the paper. Genetics gives us causality more than just correlation.. We used an interactive system to see if DNA changes in one species would affect the characteristics in another ...

Rainbow trout is a significant fish farming species under temperate climates. Female reproduction traits play an important role in the economy of breeding companies with the sale of fertilized eggs. The objectives of this study are threefold: to estimate the genetic parameters of female reproduction traits, to determine the genetic architecture of these traits by the identification of quantitative trait loci (QTL), and to assess the expected efficiency of a pedigree-based selection (BLUP) or genomic selection for these traits. A pedigreed population of 1343 trout were genotyped for 57,000 SNP markers and phenotyped for seven traits at 2 years of age: spawning date, female body weight before and after spawning, the spawn weight and the egg number of the spawn, the egg average weight and average diameter. Genetic parameters were estimated in multi-trait linear animal models. Heritability estimates were moderate, varying from 0.27 to 0.44. The female body weight was not genetically correlated to any of the

Alzheimers disease (AD) is the most common neurodegenerative disease in the elderly and the leading cause of dementia in humans. Evidence shows that cellular trafficking and recycling machineries are associated with AD risk. A recent study found that the coat protein complex I (COPI)-dependent trafficking in vivo could significantly reduce amyloid plaques in the cortex and hippocampus of neurological in the AD mouse models and identified 12 single-nucleotide polymorphisms in COPI genes to be significantly associated with increased AD risk using 6,795 samples. Here, we used a large-scale GWAS dataset to investigate the potential association between the COPI genes and AD susceptibility by both SNP and gene-based tests. The results showed that only rs9898218 was associated with AD risk with P = 0.017. We further conducted an expression quantitative trait loci (eQTLs) analysis and found that rs9898218 G allele was associated with increased COPZ2 expression in cerebellar cortex with P = 0.0184. Importantly,

Rice crop is sensitive to cold stress at seedling stage. A panel of population representing 304 shortlisted germplasm lines was studied for seedling stage chilling tolerance in indica rice. Six phenotypic classes were exposed to six low temperature stress regimes under control phenotyping facility to investigate response pattern. A panel of sixty six genotypes representing all phenotypic classes was used for ensuring genetic diversity, population structure and association mapping for the trait using 58 simple sequence repeat (SSR) and 2 direct trait linked markers. A moderate level of genetic diversity was detected in the panel population for the trait. Deviation of Hardy-Weinbergs expectation was detected in the studied population using Wrights F statistic. The panel showed 30% variation among population and 70% among individuals. The entire population was categorized into three sub-populations through STRUCTURE analysis. This revealed tolerance for the trait had a common primary ancestor for each

Differential HLA-C levels influence several human diseases, but the mechanisms responsible are incompletely characterized. Using a validated prediction algorithm, we imputed HLA-C cell surface levels in 228 individuals from the 1000 Genomes dataset.. We tested 68,726 SNPs within the MHC for association with HLA-C level. The HLA-C promoter region variant, rs2395471, 800 bp upstream of the transcription start site, gave the most significant association with HLA-C levels (p = 4.2 x 10-66). This imputed expression quantitative trait locus, termed impeQTL, was also shown to associate with HLA-C expression in a genome-wide association study of 273 donors in which HLA-C mRNA expression levels were determined by quantitative PCR (qPCR) (p = 1.8 x 10-20) and in two cohorts where HLA-C cell surface levels were determined directly by flow cytometry (n = 369 combined, p < 10-15).. rs2395471 is located in an Oct1 transcription factor consensus binding site motif where the A allele is predicted to have higher ...

BACKGROUND: Complex etiology and pathogenesis of pathophysiological components of the cardio-metabolic syndrome have been demonstrated in humans and animal models. METHODOLOGY/PRINCIPAL FINDINGS: We have generated extensive physiological, genetic and genome-wide gene expression profiles in a congenic strain of the spontaneously diabetic Goto-Kakizaki (GK) rat containing a large region (110 cM, 170 Mb) of rat chromosome 1 (RNO1), which covers diabetes and obesity quantitative trait loci (QTL), introgressed onto the genetic background of the normoglycaemic Brown Norway (BN) strain. This novel disease model, which by the length of the congenic region closely mirrors the situation of a chromosome substitution strain, exhibits a wide range of abnormalities directly relevant to components of the cardio-metabolic syndrome and diabetes complications, including hyperglycaemia, hyperinsulinaemia, enhanced insulin secretion both in vivo and in vitro, insulin resistance, hypertriglyceridemia and altered pancreatic

We present a method to assist in interpretation of the functional impact of intergenic disease-associated SNPs that is not limited to search strategies proximal to the SNP. The method builds on two sources of external knowledge: the growing understanding of three-dimensional spatial relationships in the genome, and the substantial repository of information about relationships among genetic variants, genes, and diseases captured in the published biomedical literature. We integrate chromatin conformation capture data (HiC) with literature support to rank putative target genes of intergenic disease-associated SNPs. We demonstrate that this hybrid method outperforms a genomic distance baseline on a small test set of expression quantitative trait loci, as well as either method individually. In addition, we show the potential for this method to uncover relationships between intergenic SNPs and target genes across chromosomes. With more extensive chromatin conformation capture data becoming readily available,

We will work to validate, dissect and characterize a QTL for kernel weight (KW) located on chromosome 6A. The QTL was identified in a RIL population derived the cross SS-MPV 57 x Massey when grown at Raleigh, NC for three years. The QTL has an additive effect of 1.75 mg. In this population, the KW QTL coincides with plant height QTL having an additive effect of 3.78 cm. Heterozygous plants were identified in F5-derived RIL for development of fine-mapping populations. This QTL region is physically large and spans the centromere. Observed recombination in the HIFs has been localized towards the ends of the QTL interval.. A second population of 358 RIL from the cross SS-MPV57 x LA95135 is being used to validate the KW QTL effect. This population is also being targeted for identification of additional QTL in regions more amenable to fine-mapping and cloning.. ...

We have examined the genetics of nonhost resistance in Arabidopsis, using the bean pathogen Pseudomonas syringae pv. phaseolicola race 6 1448A to probe accessions for natural variation in basal defense. Symptoms rarely developed in leaves of Niedersenz (Nd), some yellowing and occasional necrosis developed in Columbia (Col), whereas tissue collapse was observed in Wassilewskija (Ws) after inoculation by infiltration. Analysis of F2 progeny and recombinant inbred lines (RIL) from a cross between Col and Nd revealed a pattern of continuous symptom increase, indicating the operation of quantitative determinants of resistance. By mapping quantitative trait loci (QTL), significant linkage was determined for resistance (low symptom score) to markers on chromosome 4. Segregation in the F2 cross from Nd × Ws indicated the operation of two dominant genes for resistance, one of which was FLS2 encoding the flagellin receptor. The requirement for FLS2 to confer resistance was confirmed by transgenic ...

MalaCards based summary : High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6, is also known as high density lipoprotein cholesterol level qtl6. An important gene associated with High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 is SCARB1 (Scavenger Receptor Class B Member 1 ...

Attached is a new RFA from NIAAA on mapping of genes influencing complex alcohol-related behavior in rodents. The intent of this RFA is to encourage collaboration between behavioral scientists studying complex behavioral traits in rodents which might model human traits predisposing to alcoholism, and molecular geneticists with experience in mapping quantitative trait loci (QTL). Potential applicants desiring further information about this RFA are urged to contact me at the address below. Robert W. Karp Program Director, Genetics NIAAA rkarp at willco.niaaa.nih.gov DEPARTMENT OF HEALTH AND HUMAN SERVICES PUBLIC HEALTH SERVICE NATIONAL INSTITUTES OF HEALTH NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM REQUEST FOR APPLICATIONS RFA AA-95-002 QTL MAPPING OF ALCOHOL-RELATED BEHAVIORAL TRAITS IN RODENTS DECEMBER 1994 PURPOSE The National Institute on Alcohol Abuse and Alcoholism (NIAAA) is seeking research proposals to map quantitative trait loci (QTL) influencing rat and mouse behavioral traits ...

Molecular Plant-Microbe Interactions 18:1318-1324...Marc Lemmens , 1 Uwe Scholz , 1 Franz Berthiller , 2 Chiara DallAsta , 2 Andrea Koutnik , 1 Rainer Schuhmacher , 2 Gerhard Adam , 3 Hermann Buerstmayr , 1 ákos Mesterházy , 4 Rudolf Krska , 2 and Peter Ruckenbauer...

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Rice blast is an economically important and mutable disease of rice. Using host resistance gene to breed resistant varieties has been proven to be the most effective and economical method to control rice blast and new resistance genes or quantitative trait loci (QTLs) are then needed. In this study, we constructed two advanced backcross population to mapping blast resistance QTLs. CR071 and QingGuAi3 were as the donor parent to establish two BC3F1 and derived BC3F2 backcross population in the Jin23B background. By challenging the two populations with natural infection in 2011 and 2012, 16 and 13 blast resistance QTLs were identified in Jin23B/CR071 and Jin23B/QingGuAi3 population, respectively. Among Jin23B/CR071 population, 3 major and 13 minor QTLs have explained the phenotypic variation from 3.50% to 34.08% in 2 years. And, among Jin23B/QingGuAi3 population, 2 major and 11 minor QTLs have explained the phenotypic variation from 2.42% to 28.95% in 2 years. Sixteen and thirteen blast resistance QTLs

TY - JOUR. T1 - Genome-wide QTL mapping of saltwater tolerance in sibling species of Anopheles (malaria vector) mosquitoes. AU - Smith, H. A.. AU - White, B. J.. AU - Kundert, P.. AU - Cheng, C.. AU - Romero-Severson, J.. AU - Andolfatto, P.. AU - Besansky, N. J.. PY - 2015/11/1. Y1 - 2015/11/1. N2 - Although freshwater (FW) is the ancestral habitat for larval mosquitoes, multiple species independently evolved the ability to survive in saltwater (SW). Here, we use quantitative trait locus (QTL) mapping to investigate the genetic architecture of osmoregulation in Anopheles mosquitoes, vectors of human malaria. We analyzed 1134 backcross progeny from a cross between the obligate FW species An. coluzzii, and its closely related euryhaline sibling species An. merus. Tests of 2387 markers with Bayesian interval mapping and machine learning (random forests) yielded six genomic regions associated with SW tolerance. Overlap in QTL regions from both approaches enhances confidence in QTL identification. ...

The genetic architecture of crop domestication is generally characterized by three trends: relatively few genomic regions with major QTL effects are involved, QTL are often clustered, and alleles derived from the crop do not always contribute to the crop phenotype. We have investigated the genetic architecture of lettuce using a recombinant inbred line population from a cross between a crop Lactuca sativa (Salinas) and its wild relative L. serriola. Few genomic regions with major QTL, plus various intermediate QTL, largely control the transition from wild to cultivated Crisphead lettuce. Allelic effects of all major QTL were in the expected direction, but there were intermediate QTL where the crop contributed to the wild phenotype and vice versa. We found two main regions with clusters of QTL, one on linkage group 3, where the crop allele induced lower seed output, another on linkage group 7, where the crop allele caused a delay in flowering time. Potentially, knowledge of genetic changes due ...

Rat Mcs3 was physically confirmed and delimited to a 27.8 Mb segment of rat chromosome 1. Rat Mcs3 is the last of the known Cop rat mammary carcinoma resistance-associated QTL (Mcs1-3) to be physically confirmed. In their linkage analysis predicting the Mcs3 QTL, Goulds group reported that Mcs3 heterozygous females had, on average, a 42% reduction in mammary carcinoma multiplicity compared to the WF phenotype, and females homozygous for the Mcs3 Cop allele had an 84% reduction in mammary tumor number (Shepel et al. 1998). Thus, they appropriately concluded that there was no dominance effect at the Mcs3 QTL. While we did not test heterozygous females in our study, we observed that the Mcs3 Cop allele reduced the mammary carcinoma susceptibility phenotype of the highly susceptible WF strain from 46 to 65% when homozygous. The discrepancy between homozygous genotypes in these two studies may be due to effects of Cop resistance alleles at other Mcs QTL present in the linkage analysis study, as the ...

Leaf morphology varies extensively among plant species and is under strong genetic control. Mutagenic screens in model systems have identified genes and established molecular mechanisms regulating leaf initiation, development, and shape. However, it is not known whether this diversity across plant species is related to naturally occurring variation at these genes. Quantitative trait locus (QTL) analysis has revealed a polygenic control for leaf shape variation in different species suggesting that loci discovered by mutagenesis may only explain part of the naturally occurring variation in leaf shape. Here we undertook a genetical genomics study in a poplar intersectional pseudo-backcross pedigree to identify genetic factors controlling leaf shape. The approach combined QTL discovery in a genetic linkage map anchored to the Populus trichocarpa reference genome sequence and transcriptome analysis. A major QTL for leaf lamina width and length:width ratio was identified in multiple experiments that confirmed

The intramuscular fat deposition and the fatty acid profiles of beef affect meat quality. High proportions of unsaturated fatty acids are related to beef flavor and are beneficial for the nutritional value of meat. Moreover, a variety of clinical and epidemiologic studies showed that particularly long-chain omega-3 fatty acids from animal sources have a positive impact on human health and disease. To screen for genetic factors affecting fatty acid profiles in beef, we initially performed a microsatellite-based genome scan in a F2 Charolais × German Holstein resource population and identified a quantitative trait locus (QTL) for fatty acid composition in a region on bovine chromosome 27 where previously QTL affecting marbling score had been detected in beef cattle populations. The long-chain acyl-CoA synthetase 1 (ACSL1) gene was identified as the most plausible functional and positional candidate gene in the QTL interval due to its direct impact on fatty acid metabolism and its position in the QTL

Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into ...

Temperature adaptation is one of the most important determinants of distribution and population size of organisms in nature. Recently, quantitative trait loci (QTL) mapping and gene expression profiling approaches have been used for detecting candidate genes for heat resistance. However, the resolution of QTL mapping is not high enough to examine the individual effects of various genes in each QTL. Heat stress-responsive genes, characterized by gene expression profiling studies, are not necessarily responsible for heat resistance. Some of these genes may be regulated in association with the heat stress response of other genes. To evaluate which heat-responsive genes are potential candidates for heat resistance with higher resolution than previous QTL mapping studies, we performed genome-wide deficiency screen for QTL for heat resistance. We screened 439 isogenic deficiency strains from the DrosDel project, covering 65.6% of the Drosophila melanogaster genome in order to map QTL for thermal resistance.

We analyzed genome-wide association studies (GWASs), including data from 71,638 individuals from four ancestries, for estimated glomerular filtration rate (eGFR), a measure of kidney function used to define chronic kidney disease (CKD). We identified 20 loci attaining genome-wide-significant evidence of association (p , 5 × 10(-8)) with kidney function and highlighted that allelic effects on eGFR at lead SNPs are homogeneous across ancestries. We leveraged differences in the pattern of linkage disequilibrium between diverse populations to fine-map the 20 loci through construction of credible sets of variants driving eGFR association signals. Credible variants at the 20 eGFR loci were enriched for DNase I hypersensitivity sites (DHSs) in human kidney cells. DHS credible variants were expression quantitative trait loci for NFATC1 and RGS14 (at the SLC34A1 locus) in multiple tissues. Loss-of-function mutations in ancestral orthologs of both genes in Drosophila melanogaster were associated with ...

The plenary lecture, given by RSA Early Career Investigator 2016 winner Dr. Lorenzo Leggio, featured an article written by Cassie Moore on compulsive eating behavior1 (slide pictured) with her PI, Dr. Pietro Cottone, Dr. Valentina Sabino, and Dr. George Koob.. The Genetic Analysis Workshop 20 (GAW20) 2017. TTPAS student, Jiayi Wu, attended The Genetic Analysis Workshop 20 (GAW20) in March 2017 where she gave the presentation on:. An efficient analytic approach in genome-wide identification of methylation quantitative trait loci in response to fenofibrate treatment.. The study of DNA methylation quantitative trait loci (mQTLs) helps dissect regulatory mechanisms underlying genetic associations of human diseases. We used GAW20 real dataset and conducted the first genome-wide examination of genetic drivers of methylation variation in response to a triglyceride lowering treatment fenofibrate (response-mQTL) by using an efficient analytic approach. For the result, a lipid SNP rs10903129 located in ...

Genome-wide marker-trait association analysis in a core set of Dolichos bean germplasm - Volume 17 Issue 1 - P. V. Vaijayanthi, S. Ramesh, M. B. Gowda, A. M. Rao, C. M. Keerthi

Seedling root traits of wheat (Triticum aestivum L.) have been shown to be important for efficient establishment and linked to mature plant traits such as height and yield. A root phenotyping pipeline, consisting of a germination paper-based screen combined with image segmentation and analysis software, was developed and used to characterize seedling traits in 94 doubled haploid progeny derived from a cross between the winter wheat cultivars Rialto and Savannah. Field experiments were conducted to measure mature plant height, grain yield, and nitrogen (N) uptake in three sites over 2 years. In total, 29 quantitative trait loci (QTLs) for seedling root traits were identified. Two QTLs for grain yield and N uptake co-localize with root QTLs on chromosomes 2B and 7D, respectively. Of the 29 root QTLs identified, 11 were found to co-localize on 6D, with four of these achieving highly significant logarithm of odds scores (,20). These results suggest the presence of a major-effect gene regulating ...

Research Interests. Aberrant epigenetic gene regulation in osteoarthritis.. Epigenetic prioritisation of OA risk loci. The function of OA-associated mQTLs in developmental limb tissues. Current Work. dCas9 epigenome editing in chondrocyte cell lines, primary cells, and MSCs. Gene regulation by OA-associated methylation quantitative trait loci (mQTLs). Functional analysis of GWAS loci using a range of molecular genetics techniques.. Esteem Indicators. OARSI Young Investigator Award for highest rated abstract. Identification of novel methylation quantitative trait loci (mQTLs) and functional characterisation using CRISPR-Cas9 and gene expression analysis prioritizes PLEC as an OA risk gene. OARSI world congress, Liverpool, April 2018. Invited workshop presentation. In vitro CRISPR-Cas9 genome and epigenome editing in OA. 2nd International Workshop on the Epigenetics of Osteoarthritis. Trinity College, Dublin, Ireland. November 6th, 2018.. Bone and Joint Research Specialty Editor (from April ...

The brown planthopper (BPH), Nilaparvata lugens (Stål), is one of the most serious and destructive pests of rice, and can be found throughout the rice-growing areas of Asia. To date, more than 24 major BPH-resistance genes have been reported in several Oryza sativa ssp. indica cultivars and wild relatives. Here, we report the genetic basis of the high level of BPH resistance derived from an Indian ...

Twin studies suggest a heritable component to circulating sex steroid hormones and sex hormone-binding globulin (SHBG). In the NCI-Breast and Prostate Cancer Cohort Consortium, 874 SNPs in 37 candidate genes in the sex steroid hormone pathway were examined in relation to circulating levels of SHBG (N = 4720), testosterone (N = 4678), 3 alpha-androstanediol-glucuronide (N = 4767) and 17beta-estradiol (N = 2014) in Caucasian men. rs1799941 in SHBG is highly significantly associated with circulating levels of SHBG (P = 4.52 x 10(-21)), consistent with previous studies, and testosterone (P = 7.54 x 10(-15)), with mean difference of 26.9 and 14.3%, respectively, comparing wild-type to homozygous variant carriers. Further noteworthy novel findings were observed between SNPs in ESR1 with testosterone levels (rs722208, mean difference = 8.8%, P = 7.37 x 10(-6)) and SRD5A2 with 3 alpha-androstanediol-glucuronide (rs2208532, mean difference = 11.8%, P = 1.82 x 10(-6)). Genetic variation in genes in the ...

The confirmation of significant genotypic differences in previous experiments led to the QTL mapping of the traits using an F8 RIL mapping population. From multiple QTL mapping (MQM) analysis, six QTLs and a putative QTL were obtained, mostly clustered in a hotspot in linkage group (LG) 1. The traits were mainly of the primary and global root traits. The primary root length (PRL) in this hotspot was driven by wild lettuce, which may imply association of domestication QTL in lettuce rooting depth as opposed to interval mapping (IM) or multiple QTL mapping (MQM) analysis. Using a non-parametric Kruskal-Wallis (KW) QTL analysis, 48 QTLs were identified, in which some clustered at hotspots (i.e. LG1, LG4, LG5 and LG8) dominated by lateral root traits. These clusters of trait loci may imply similar mechanisms control similar growth-related traits ...

Stripe rust (also known as yellow rust), caused by the pathogen Puccinia striiformis f. sp. tritici (Pst), is a common and serious fungal disease of wheat (Triticum aestivum L.) worldwide. To identify effective stripe rust resistance loci, a genome-wide association study was performed using 152 wheat landraces from the Yellow and Huai River Valleys in China based on Diversity Arrays Technology and simple sequence repeat markers. Phenotypic evaluation of the degree of resistance to stripe rust at the adult-plant stage under field conditions was carried out in five environments. In total, 19 accessions displayed stable, high degrees of resistance to stripe rust development when exposed to mixed races of Pst at the adult-plant stage in multi-environment field assessments. A marker-trait association analysis indicated that 51 loci were significantly associated with adult-plant resistance to stripe rust. These loci included 40 quantitative trait loci (QTL) regions for adult-plant resistance. Twenty ...

Han Kyu Lee, Samuel J. Widmayer, Min-Nung Huang, David L. Aylor and Douglas A. Marchuk. GENETICS 213:2 (October 2019). To identify genes involved in cerebral infarction we have employed a forward genetic approach in inbred mouse strains, using quantitative trait locus (QTL) mapping for cerebral infarct volume after middle cerebral artery occlusion. We had previously observed that infarct volume is inversely correlated with cerebral collateral vessel density in most strains. In this study, we expanded the pool of allelic variation among classical inbred mouse strains by utilizing the eight founder strains of the Collaborative Cross and found a wild-derived strain, WSB/EiJ, that breaks this general rule that collateral vessel density inversely correlates with infarct volume. WSB/EiJ and another wild-derived strain, CAST/EiJ, show the highest collateral vessel densities of any inbred strain, but infarct volume of WSB/EiJ mice is 8.7-fold larger than that of CAST/EiJ mice. QTL mapping between these ...

Deciphering the impact of genetic variants on gene regulation is fundamental to understanding human disease. Although gene regulation often involves long-range interactions, it is unknown to what extent non-coding genetic variants influence distal molecular phenotypes. Here, we integrate chromatin profiling for three histone marks in lymphoblastoid cell lines (LCLs) from 75 sequenced individuals with LCL-specific Hi-C and ChIA-PET-based chromatin contact maps to uncover one of the largest collections of local and distal histone quantitative trait loci (hQTLs). Distal QTLs are enriched within topologically associated domains and exhibit largely concordant variation of chromatin state coordinated by proximal and distal non-coding genetic variants. Histone QTLs are enriched for common variants associated with autoimmune diseases and enable identification of putative target genes of disease-associated variants from genome-wide association studies. These analyses provide insights into how genetic ...

One of the responses of plants to low sources of external phosphorus (P) is to modify root architecture. In Arabidopsis thaliana plantlets grown on low P, the primary root length (PRL) is reduced whereas lateral root growth is promoted. By using the Bay-0 × Shahdara recombinant inbred line (RIL) population, we have mapped three quantitative trait loci (QTL) involved in the root growth response to low P. The Shahdara alleles at these three QTL promote the response of the primary root to low P (i.e. root length reduction). One of these QTL, LPR1, located in a 2.8 Mb region at the top of chromosome 1, explains 52% of the variance of the PRL. We also detected a single QTL associated with primary root cell elongation in response to low P which colocalizes with LPR1. LPR1 does not seem to be involved in other typical P-starvation responses such as growth and density of root hairs, excretion of acid phosphatases, anthocyanin accumulation or the transcriptional induction of the P transporter Pht1;4. LPR1 might

The main goal of the study was to explore the genetic architecture underlying muscle weight in old mice. Weight of soleus, tibialis anterior (TA), extensor digitorum longus (EDL), and gastrocnemius muscles was measured in the C57BL/6J (B6) and DBA/2J (D2) strains and derivative generations: a panel of the BXD recombinant inbred (RI) strains and a B6D2 F(2) intercross at the age of 800 days. The between-strain difference in muscle weight (B6 , D2) ranged between 16% and 38%. Linkage analysis identified suggestive quantitative trait loci (QTL) on Chromosomes (Chr) 2, 6, 7, 8, 19, and X that influenced muscle weight in the 800-day-old group. Comparison of weights at 200, 500, and 800 days revealed a variable effect of age among the four muscles. Linkage analysis in the B6D2 F(2) population combined across the three different age groups identified muscle-, sex-, and age-specific QTL on Chr 1, 2, 3, 5, 6, 8, 9, 11, 13, 17, X, and Y. Genetic factors that influence the rate of weight change ...

Profiling amino acids and acylcarnitines in whole blood spots is a powerful tool in the laboratory diagnosis of several inborn errors of metabolism. arginine (both on chromosome 6; rs12210538, rs17657775), propionylcarnitine (chromosome 10; rs12779637), 2-hydroxyisovalerylcarnitine (chromosome 21; rs1571700), stearoylcarnitine (chromosome 1; rs3811444), and aspartic acid traits (chromosome 8; rs750472). Based on an integrative analysis of expression quantitative trait loci in blood mononuclear cells and correlations between gene 118-00-3 supplier expressions and metabolite levels, we provide evidence for putative causative genes: for total acylcarnitines, for arginine, for 2-hydroxyisovalerylcarnitine, for stearoylcarnitine via a trans-effect at chromosome 1, and for aspartic acid traits. Further, we report replication and provide additional functional evidence for ten loci that have previously been published for metabolites measured in plasma, serum or urine. In conclusion, our integrative ...

The Collaborative Cross (CC) represents a large collection of new inbred mouse strains created by the mouse genetics community aimed at revolutionizing the study of complex genetic traits and diseases. Derived from classical inbred strains and wild-derived strains, the CC captures nearly 90% of known genetic variation in laboratory mice, far surpassing more commonly used inbred strains. The CC is a tool to integrate studies of gene function and gene networks, allowing the prediction and testing of biological models based on the whole organism, critical to the development of personalized therapies for humans. Genome Research has published three articles online in-advance utilizing strains from the emerging Collaborative Cross mouse strains.. 1. Collaborative Cross strains facilitate mapping of causative loci. In this work, Aylor and colleagues performed an experiment called the the pre-CC study, the first genetic data and analysis from the emerging strains of the CC. Their investigation ...

TY - JOUR. T1 - Localization of multiple pleiotropic genes for lipoprotein metabolism in baboons. AU - Rainwater, David L.. AU - Cox, Laura A.. AU - Rogers, Jeffrey. AU - VandeBerg, John L.. AU - Mahamey, Michae L.C.. PY - 2009/7/1. Y1 - 2009/7/1. N2 - We employed a novel approach to identify the key loci that harbor genes influencing lipoprotein metabolism in approximately 2,000 pedigreed baboons fed various diets differing in levels of fat and cholesterol. In this study, 126 overlapping traits related to both LDL and HDL metabolism were normalized and subjected to genome-wide linkage screening. As was expected, the traits were highly, but not completely, correlated. We exploited the information in these correlated traits by focusing on those genomic regions harboring quantitative trait loci (QTL) for multiple traits, reasoning that the more influential genes would impact a larger number of traits. This study identified five major QTL clusters (each with at least two significant logarithm of ...

To explore exonic variants in possibly associated with gout susceptibility, we sequenced all exons of in 480 gout cases and 480 controls of Japanese male6 and conducted an association analysis (see online supplementary furniture S1 and S2), followed by a replication study on 924 gout instances and 2113 settings (see online supplementary number S1). In two recognized variants with small allele rate of recurrence (MAF) >0.5%, only rs117371763 (c.1129C>T; p.Arg377Cys [R377C]) was significantly associated with gout susceptibility after Bonferroni correction (p=0.014). The significant association between rs117371763 and gout susceptibility was replicated, and our meta-analysis showed a significant protecting effect of rs117371763 on gout susceptibility (OR=0.67; 95% CI 0.53 to 0.85; pmeta=7.810-4) (table 1). In addition, a quantitative trait locus analysis focusing on SUA levels in 3208 individuals (observe online supplementary table S3) showed the small allele of rs117371763 significantly decreases ...

Genotyping of disease resistance to bacterial wilt in tomato by a genome-wide SNP analysis Bacterial wilt caused by Ralstonia pseudosolanacearum is one of the destructive diseases in tomato. The previous studies have identified Bwr-6 (chromosome 6) and Bwr-12 (chromosome 12) loci as the major quantitative trait loci (QTLs) contributing to resistance against bacterial wilt in tomato cultivar Hawaii7996. However, the genetic identities of two QTLs have not been uncovered yet. In this study, using whole-genome resequencing, we analyzed genome-wide single-nucleotide polymorphisms (SNPs) that can distinguish a resistant group, including seven tomato varieties resistant to bacterial wilt, from a susceptible group, including two susceptible to the same disease ...

Why hasnt Zika virus (ZIKV) disease caused as much devastation in Africa, its continent of origin, as it has in the Americas? Outside of Africa, this flavivirus is transmitted by a ubiquitous mosquito subspecies, Aedes aegypti aegypti, which emerged from the African forerunner subspecies A. aegypti formosus and acquired a preference for human blood and a peridomestic lifestyle. Now, this subspecies colonizes many intertropical cities, aided by climate change and human trash. Aubry et al. tested 14 laboratory mosquito colonies for their relative susceptibility to ZIKV. Quantitative trait locus mapping showed differences on chromosome 2 between mosquitoes from Gabon and Guadeloupe. Mouse infection experiments revealed that African mosquitoes transmitted a smaller virus inoculum than the South American insects. Increased susceptibility coupled with the ability of A. aegypti aegypti to breed in any discarded object containing water has amplified the problematic nature of this virus as it has ...

Phenolic esters have attracted considerable interest due to the potential they offer for peroxidase catalysed cross-linking of cell wall polysaccharides. Particularly, feruloyl residues undergo radical coupling reactions that result in cross-linking (intra-/intermolecular) between polysaccharides, between polysaccharides and lignin and, between polysaccharides and proteins. This review addresses for the first time different studies in which it is established that cross-linking by dehydrodiferulates contributes to maizes defences to pests and diseases. Dehydrodiferulate cross-links are involved in maize defence mechanisms against insects such as the European, Mediterranean, and tropical corn borers and, storage pest as the maize weevil. In addition, cross-links are also discussed to be involved in genetic resistance of maize to fungus diseases as Gibberella ear and stalk rot. Resistance against insects and fungus attending dehydrodiferulates could go hand in hand. Quantitative trait loci mapping for

article{2a540d9f-73ba-41d7-8442-fe16f20afb72, abstract = {,p,Emerging evidence suggests that the basis for variation in late-life mobility is attributable, in part, to genetic factors, which may become increasingly important with age. Our objective was to systematically assess the contribution of genetic variation to gait speed in older individuals. We conducted a meta-analysis of gait speed GWASs in 31,478 older adults from 17 cohorts of the CHARGE consortium, and validated our results in 2,588 older adults from 4 independent studies. We followed our initial discoveries with network and eQTL analysis of candidate signals in tissues. The meta-analysis resulted in a list of 536 suggestive genome wide significant SNPs in or near 69 genes. Further interrogation with Pathway Analysis placed gait speed as a polygenic complex trait in five major networks. Subsequent eQTL analysis revealed several SNPs significantly associated with the expression of PRSS16, WDSUB1 and PTPRT, which in addition to the ...

Much of our on-going work aims to define the genetic basis of neural circuit and behavioural evolution. Towards this goal, we compare the olfactory pathways of closely related but ecologically distinct drosophilids, in particular D. simulans and D. sechellia. Like D. melanogaster, D. simulans is distributed worldwide and attracted to diverse fermenting vegetal substrates. By contrast, D. sechellia is endemic to the Seychelles archipelago, and is an ecological specialist that is attracted to, and feeds and breeds exclusively on the acid-rich fruit of Morinda citrifolia. We have identified changes in the odour-recognition properties and expression of acid-sensing receptors in D. sechellia and are currently defining the molecular basis of these differences. We are also visualising the neural pathways in which these receptors are expressed, to identify modifications in circuit organisation; subsequently we will use quantitative trait locus mapping to locate the genes responsible for adaptations in ...

A study was conducted to estimate the extant of heterobeltiosis, standard heterosis and the nature of gene action for some quantitative traits using line x tester analysis. Among the parents, M1-10-29VL and TM07280 were the best performing parents for seed yield per plant and its components traits. Cross combinations IR77629-72-2-1-3 X IR64, Basmati 370 X CR2703, Sonam X NDR118 and IR7734-4-0 X CR2703 exhibited high significant effects with high per se performance and standard heterosis over PHB71. High magnitude of heterobltiosis and standard heterosis were observed for almost all characters. Cross combinations M1-10-29 VL X NDR118, Basmati 370 X CR2703, TM07280 X NDR118, IR77629 -72-2-1-3 X IR-64 and TM07280 X IR-64 exhibited highly significant heterosis over PHB71.. ...

Author: Gery, C. et al.; Genre: Journal Article; Published in Print: 2011; Keywords: arabidopsis|br/|cold acclimation|br/|cbf|br/|rnai|br/|qtl mapping|br/|quantitative trait loci|br/|plant cold-acclimation|br/|low-temperature|br/|transcription factors|br/|frost tolerance|br/|triticum-monococcum|br/|gene-expression|br/|flowering time|br/|water-deficit|br/|stress; Title: Natural variation in the freezing tolerance of Arabidopsis thaliana: Effects of RNAi-induced CBF depletion and QTL localisation vary among accessions

A public candidate gene testing pipeline for resistance to aflatoxin accumulation or Aspergillus flavus infection in maize is presented here. The pipeline consists of steps for identifying, testing, and verifying the association of selected maize gene sequences with resistance under field conditions. Resources include a database of genetic and protein sequences associated with the reduction in aflatoxin contamination from previous studies; eight diverse inbred maize lines for polymorphism identification within any maize gene sequence; four Quantitative Trait Loci (QTL) mapping populations and one association mapping panel, all phenotyped for aflatoxin accumulation resistance and associated phenotypes; and capacity for Insertion/Deletion (InDel) and SNP genotyping in the population(s) for mapping. To date, ten genes have been identified as possible candidate genes and put through the candidate gene testing pipeline, and results are presented here to demonstrate the utility of the pipeline.

The aim of this study was to estimate the accuracy and convergence of newly developed barley (Hordeum vulgare L.) genomic resources, primarily genome zipper (GZ) and population sequencing (POPSEQ), at the genome-wide level and to assess their usefulness in applied barley breeding by analyzing seven known loci. Comparison of barley GZ and POPSEQ maps to a newly developed consensus genetic map constructed with data from 13 individual linkage maps yielded an accuracy of 97.8% (GZ) and 99.3% (POPSEQ), respectively, regarding the chromosome assignment. The percentage of agreement in marker position indicates that on average only 3.7% GZ and 0.7% POPSEQ positions are not in accordance with their centimorgan coordinates in the consensus map. The fine-scale comparison involved seven genetic regions on chromosomes 1H, 2H, 4H, 6H, and 7H, harboring major genes and quantitative trait loci (QTL) for disease resistance. In total, 179 GZ loci were analyzed and 64 polymorphic markers were developed. Entirely, ...