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1.
Plant Physiol ; 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38820200

RESUMEN

Global nighttime temperatures are rising at twice the rate of daytime temperatures and pose a challenge for rice (Oryza sativa) production. High nighttime temperature (HNT) stress affects rice yield by reducing grain weight, size, and fertility. Although the genes associated with these yield parameters have been identified and characterized under normal temperatures, the genetic basis of grain weight regulation under HNT stress remains less explored. We examined the natural variation for rice single grain weight (SGW) under HNT stress imposed during grain development. A genome-wide association analysis identified several loci associated with grain weight under HNT stress. A locus, single grain weight 1 (SGW1), specific to HNT conditions resolved to LONELY GUY-Like 1 (LOGL1), which encodes a putative cytokinin activation enzyme. We demonstrated that LOGL1 contributes to allelic variation at SGW1. Accessions with lower LOGL1 transcript abundance had higher grain weight under HNT. This was supported by higher grain weight of logl1 mutants relative to the wild type under HNT. Compared to logl1 mutants, LOGL1 over-expressers showed increased sensitivity to HNT. We showed that LOGL1 regulates the thiamine biosynthesis pathway, which is under circadian regulation, which in turn is likely perturbed by HNT stress. These findings provide a genetic source to enhance rice adaptation to warming night temperatures and improve our mechanistic understanding of HNT stress tolerance pathways.

2.
Heredity (Edinb) ; 129(2): 93-102, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35538221

RESUMEN

Genomic loci that control the variance of agronomically important traits are increasingly important due to the profusion of unpredictable environments arising from climate change. The ability to identify such variance-controlling loci in association studies will be critical for future breeding efforts. Two statistical approaches that have already been used in the variance genome-wide association study (vGWAS) paradigm are the Brown-Forsythe test (BFT) and the double generalized linear model (DGLM). To ensure that these approaches are deployed as effectively as possible, it is critical to study the factors that influence their ability to identify variance-controlling loci. We used genome-wide marker data in maize (Zea mays L.) and Arabidopsis thaliana to simulate traits controlled by epistasis, genotype by environment (GxE) interactions, and variance quantitative trait nucleotides (vQTNs). We then quantified true and false positive detection rates of the BFT and DGLM across all simulated traits. We also conducted a vGWAS using both the BFT and DGLM on plant height in a maize diversity panel. The observed true positive detection rates at the maximum sample size considered (N = 2815) suggest that both of these vGWAS approaches are capable of identifying epistasis and GxE for sufficiently large sample sizes. We also noted that the DGLM decisively outperformed the BFT for simulated traits controlled by vQTNs at sample sizes of N = 500. Although we conclude that there are still certain aspects of vGWAS approaches that need further refinement, this study suggests that the BFT and DGLM are capable of identifying variance-controlling loci in current state-of-the-art plant or agronomic data sets.


Asunto(s)
Estudio de Asociación del Genoma Completo , Sitios de Carácter Cuantitativo , Genotipo , Fenotipo , Fitomejoramiento , Polimorfismo de Nucleótido Simple , Zea mays/genética
3.
BMC Genomics ; 22(1): 119, 2021 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-33588757

RESUMEN

BACKGROUND: Genetic connectedness is a critical component of genetic evaluation as it assesses the comparability of predicted genetic values across units. Genetic connectedness also plays an essential role in quantifying the linkage between reference and validation sets in whole-genome prediction. Despite its importance, there is no user-friendly software tool available to calculate connectedness statistics. RESULTS: We developed the GCA R package to perform genetic connectedness analysis for pedigree and genomic data. The software implements a large collection of various connectedness statistics as a function of prediction error variance or variance of unit effect estimates. The GCA R package is available at GitHub and the source code is provided as open source. CONCLUSIONS: The GCA R package allows users to easily assess the connectedness of their data. It is also useful to determine the potential risk of comparing predicted genetic values of individuals across units or measure the connectedness level between training and testing sets in genomic prediction.


Asunto(s)
Cruzamiento , Genoma , Genómica , Humanos , Linaje , Programas Informáticos
4.
BMC Plant Biol ; 21(1): 549, 2021 Nov 22.
Artículo en Inglés | MEDLINE | ID: mdl-34809568

RESUMEN

BACKGROUND: Unrevealing the genetic makeup of crop morpho-agronomic traits is essential for improving yield quality and sustainability. Sesame (Sesamum indicum L.) is one of the oldest oil-crops in the world. Despite its economic and agricultural importance, it is an 'orphan crop-plant' that has undergone limited modern selection, and, as a consequence preserved wide genetic diversity. Here we established a new sesame panel (SCHUJI) that contains 184 genotypes representing wide phenotypic variation and is geographically distributed. We harnessed the natural variation of this panel to perform genome-wide association studies for morpho-agronomic traits under the Mediterranean climate conditions. RESULTS: Field-based phenotyping of the SCHUJI panel across two seasons exposed wide phenotypic variation for all traits. Using 20,294 single-nucleotide polymorphism markers, we detected 50 genomic signals associated with these traits. Major genomic region on LG2 was associated with flowering date and yield-related traits, exemplified the key role of the flowering date on productivity. CONCLUSIONS: Our results shed light on the genetic architecture of flowering date and its interaction with yield components in sesame and may serve as a basis for future sesame breeding programs in the Mediterranean basin.


Asunto(s)
Flores/crecimiento & desarrollo , Estudio de Asociación del Genoma Completo , Tallos de la Planta/crecimiento & desarrollo , Polimorfismo de Nucleótido Simple , Semillas/crecimiento & desarrollo , Sesamum/crecimiento & desarrollo , Sesamum/genética , Productos Agrícolas/genética , Productos Agrícolas/crecimiento & desarrollo , Flores/genética , Genes de Plantas , Variación Genética , Genoma de Planta , Genotipo , Fenotipo , Tallos de la Planta/genética
5.
New Phytol ; 229(1): 335-350, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-32858766

RESUMEN

A higher minimum (night-time) temperature is considered a greater limiting factor for reduced rice yield than a similar increase in maximum (daytime) temperature. While the physiological impact of high night temperature (HNT) has been studied, the genetic and molecular basis of HNT stress response remains unexplored. We examined the phenotypic variation for mature grain size (length and width) in a diverse set of rice accessions under HNT stress. Genome-wide association analysis identified several HNT-specific loci regulating grain size as well as loci that are common for optimal and HNT stress conditions. A novel locus contributing to grain width under HNT conditions colocalized with Fie1, a component of the FIS-PRC2 complex. Our results suggest that the allelic difference controlling grain width under HNT is a result of differential transcript-level response of Fie1 in grains developing under HNT stress. We present evidence to support the role of Fie1 in grain size regulation by testing overexpression (OE) and knockout mutants under heat stress. The OE mutants were either unaltered or had a positive impact on mature grain size under HNT, while the knockouts exhibited significant grain size reduction under these conditions.


Asunto(s)
Oryza , Grano Comestible/genética , Endospermo/genética , Fertilización , Estudio de Asociación del Genoma Completo , Oryza/genética , Temperatura
6.
Genet Sel Evol ; 53(1): 29, 2021 Mar 16.
Artículo en Inglés | MEDLINE | ID: mdl-33726672

RESUMEN

BACKGROUND: Over the past decade, Fourier transform infrared (FTIR) spectroscopy has been used to predict novel milk protein phenotypes. Genomic data might help predict these phenotypes when integrated with milk FTIR spectra. The objective of this study was to investigate prediction accuracy for milk protein phenotypes when heterogeneous on-farm, genomic, and pedigree data were integrated with the spectra. To this end, we used the records of 966 Italian Brown Swiss cows with milk FTIR spectra, on-farm information, medium-density genetic markers, and pedigree data. True and total whey protein, and five casein, and two whey protein traits were analyzed. Multiple kernel learning constructed from spectral and genomic (pedigree) relationship matrices and multilayer BayesB assigning separate priors for FTIR and markers were benchmarked against a baseline partial least squares (PLS) regression. Seven combinations of covariates were considered, and their predictive abilities were evaluated by repeated random sub-sampling and herd cross-validations (CV). RESULTS: Addition of the on-farm effects such as herd, days in milk, and parity to spectral data improved predictions as compared to those obtained using the spectra alone. Integrating genomics and/or the top three markers with a large effect further enhanced the predictions. Pedigree data also improved prediction, but to a lesser extent than genomic data. Multiple kernel learning and multilayer BayesB increased predictive performance, whereas PLS did not. Overall, multilayer BayesB provided better predictions than multiple kernel learning, and lower prediction performance was observed in herd CV compared to repeated random sub-sampling CV. CONCLUSIONS: Integration of genomic information with milk FTIR spectral can enhance milk protein trait predictions by 25% and 7% on average for repeated random sub-sampling and herd CV, respectively. Multiple kernel learning and multilayer BayesB outperformed PLS when used to integrate heterogeneous data for phenotypic predictions.


Asunto(s)
Cruzamiento/métodos , Bovinos/genética , Genómica/métodos , Proteínas de la Leche/genética , Animales , Proteínas de la Leche/química , Modelos Genéticos , Linaje , Espectroscopía Infrarroja por Transformada de Fourier/métodos
7.
J Dairy Sci ; 104(7): 8107-8121, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33865589

RESUMEN

Fourier-transform infrared (FTIR) spectroscopy is a powerful high-throughput phenotyping tool for predicting traits that are expensive and difficult to measure in dairy cattle. Calibration equations are often developed using standard methods, such as partial least squares (PLS) regression. Methods that employ penalization, rank-reduction, and variable selection, as well as being able to model the nonlinear relations between phenotype and FTIR, might offer improvements in predictive ability and model robustness. This study aimed to compare the predictive ability of 2 machine learning methods, namely random forest (RF) and gradient boosting machine (GBM), and penalized regression against PLS regression for predicting 3 phenotypes differing in terms of biological meaning and relationships with milk composition (i.e., phenotypes measurable directly and not directly in milk, reflecting different biological processes which can be captured using milk spectra) in Holstein-Friesian cattle under 2 cross-validation scenarios. The data set comprised phenotypic information from 471 Holstein-Friesian cows, and 3 target phenotypes were evaluated: (1) body condition score (BCS), (2) blood ß-hydroxybutyrate (BHB, mmol/L), and (3) κ-casein expressed as a percentage of nitrogen (κ-CN, % N). The data set was split considering 2 cross-validation scenarios: samples-out random in which the population was randomly split into 10-folds (8-folds for training and 1-fold for validation and testing); and herd/date-out in which the population was randomly assigned to training (70% herd), validation (10%), and testing (20% herd) based on the herd and date in which the samples were collected. The random grid search was performed using the training subset for the hyperparameter optimization and the validation set was used for the generalization of prediction error. The trained model was then used to assess the final prediction in the testing subset. The grid search for penalized regression evidenced that the elastic net (EN) was the best regularization with increase in predictive ability of 5%. The performance of PLS (standard model) was compared against 2 machine learning techniques and penalized regression using 2 cross-validation scenarios. Machine learning methods showed a greater predictive ability for BCS (0.63 for GBM and 0.61 for RF), BHB (0.80 for GBM and 0.79 for RF), and κ-CN (0.81 for GBM and 0.80 for RF) in samples-out cross-validation. Considering a herd/date-out cross-validation these values were 0.58 (GBM and RF) for BCS, 0.73 (GBM and RF) for BHB, and 0.77 (GBM and RF) for κ-CN. The GBM model tended to outperform other methods in predictive ability around 4%, 1%, and 7% for EN, RF, and PLS, respectively. The prediction accuracies of the GBM and RF models were similar, and differed statistically from the PLS model in samples-out random cross-validation. Although, machine learning techniques outperformed PLS in herd/date-out cross-validation, no significant differences were observed in terms of predictive ability due to the large standard deviation observed for predictions. Overall, GBM achieved the highest accuracy of FTIR-based prediction of the different phenotypic traits across the cross-validation scenarios. These results indicate that GBM is a promising method for obtaining more accurate FTIR-based predictions for different phenotypes in dairy cattle.


Asunto(s)
Aprendizaje Automático , Leche , Ácido 3-Hidroxibutírico , Animales , Bovinos , Femenino , Fenotipo , Espectroscopía Infrarroja por Transformada de Fourier/veterinaria
8.
J Dairy Sci ; 104(5): 5705-5718, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33663837

RESUMEN

The aims of this study were to investigate potential functional relationships among milk protein fractions in dairy cattle and to carry out a structural equation model (SEM) GWAS to provide a decomposition of total SNP effects into direct effects and effects mediated by traits that are upstream in a phenotypic network. To achieve these aims, we first fitted a mixed Bayesian multitrait genomic model to infer the genomic correlations among 6 milk nitrogen fractions [4 caseins (CN), namely κ-, ß-, αS1-, and αS2-CN, and 2 whey proteins, namely ß-lactoglobulin (ß-LG) and α-lactalbumin (α-LA)], in a population of 989 Italian Brown Swiss cows. Animals were genotyped with the Illumina BovineSNP50 Bead Chip v.2 (Illumina Inc.). A Bayesian network approach using the max-min hill-climbing (MMHC) algorithm was implemented to model the dependencies or independence among traits. Strong and negative genomic correlations were found between ß-CN and αS1-CN (-0.706) and between ß-CN and κ-CN (-0.735). The application of the MMHC algorithm revealed that κ-CN and ß-CN seemed to directly or indirectly influence all other milk protein fractions. By integrating multitrait model GWAS and SEM-GWAS, we identified a total of 127 significant SNP for κ-CN, 89 SNP for ß-CN, 30 SNP for αS1-CN, and 14 SNP for αS2-CN (mostly shared among CN and located on Bos taurus autosome 6) and 15 SNP for ß-LG (mostly located on Bos taurus autosome 11), whereas no SNP passed the significance threshold for α-LA. For the significant SNP, we assessed and quantified the contribution of direct and indirect paths to total marker effect. Pathway analyses confirmed that common regulatory mechanisms (e.g., energy metabolism and hormonal and neural signals) are involved in the control of milk protein synthesis and metabolism. The information acquired might be leveraged for setting up optimal management and selection strategies aimed at improving milk quality and technological characteristics in dairy cattle.


Asunto(s)
Caseínas , Proteínas de la Leche , Animales , Teorema de Bayes , Caseínas/genética , Bovinos/genética , Femenino , Genómica , Análisis de Clases Latentes
9.
J Exp Bot ; 71(18): 5669-5679, 2020 09 19.
Artículo en Inglés | MEDLINE | ID: mdl-32526013

RESUMEN

Elucidating genotype-by-environment interactions and partitioning its contribution to phenotypic variation remains a challenge for plant scientists. We propose a framework that utilizes genome-wide markers to model genotype-specific shoot growth trajectories as a function of time and soil water availability. A rice diversity panel was phenotyped daily for 21 d using an automated, high-throughput image-based, phenotyping platform that enabled estimation of daily shoot biomass and soil water content. Using these data, we modeled shoot growth as a function of time and soil water content, and were able to determine the time point where an inflection in the growth trajectory occurred. We found that larger, more vigorous plants exhibited an earlier repression in growth compared with smaller, slow-growing plants, indicating a trade-off between early vigor and tolerance to prolonged water deficits. Genomic inference for model parameters and time of inflection (TOI) identified several candidate genes. This study is the first to utilize a genome-enabled growth model to study drought responses in rice, and presents a new approach to jointly model dynamic morpho-physiological responses and environmental covariates.


Asunto(s)
Oryza , Sequías , Genotipo , Oryza/genética , Fenotipo , Agua
10.
Heredity (Edinb) ; 124(5): 658-674, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32127659

RESUMEN

This study evaluated the use of multiomics data for classification accuracy of rheumatoid arthritis (RA). Three approaches were used and compared in terms of prediction accuracy: (1) whole-genome prediction (WGP) using SNP marker information only, (2) whole-methylome prediction (WMP) using methylation profiles only, and (3) whole-genome/methylome prediction (WGMP) with combining both omics layers. The number of SNP and of methylation sites varied in each scenario, with either 1, 10, or 50% of these preselected based on four approaches: randomly, evenly spaced, lowest p value (genome-wide association or epigenome-wide association study), and estimated effect size using a Bayesian ridge regression (BRR) model. To remove effects of high levels of pairwise linkage disequilibrium (LD), SNPs were also preselected with an LD-pruning method. Five Bayesian regression models were studied for classification, including BRR, Bayes-A, Bayes-B, Bayes-C, and the Bayesian LASSO. Adjusting methylation profiles for cellular heterogeneity within whole blood samples had a detrimental effect on the classification ability of the models. Overall, WGMP using Bayes-B model has the best performance. In particular, selecting SNPs based on LD-pruning with 1% of the methylation sites selected based on BRR included in the model, and fitting the most significant SNP as a fixed effect was the best method for predicting disease risk with a classification accuracy of 0.975. Our results showed that multiomics data can be used to effectively predict the risk of RA and identify cases in early stages to prevent or alter disease progression via appropriate interventions.


Asunto(s)
Artritis Reumatoide , Metilación de ADN , Estudio de Asociación del Genoma Completo , Polimorfismo de Nucleótido Simple , Artritis Reumatoide/genética , Teorema de Bayes , Humanos
11.
Genetica ; 146(2): 137-149, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29243001

RESUMEN

SNP chips are commonly used for genotyping animals in genomic selection but strategies for selecting low-density (LD) SNPs for imputation-mediated genomic selection have not been addressed adequately. The main purpose of the present study was to compare the performance of eight LD (6K) SNP panels, each selected by a different strategy exploiting a combination of three major factors: evenly-spaced SNPs, increased minor allele frequencies, and SNP-trait associations either for single traits independently or for all the three traits jointly. The imputation accuracies from 6K to 80K SNP genotypes were between 96.2 and 98.2%. Genomic prediction accuracies obtained using imputed 80K genotypes were between 0.817 and 0.821 for daughter pregnancy rate, between 0.838 and 0.844 for fat yield, and between 0.850 and 0.863 for milk yield. The two SNP panels optimized on the three major factors had the highest genomic prediction accuracy (0.821-0.863), and these accuracies were very close to those obtained using observed 80K genotypes (0.825-0.868). Further exploration of the underlying relationships showed that genomic prediction accuracies did not respond linearly to imputation accuracies, but were significantly affected by genotype (imputation) errors of SNPs in association with the traits to be predicted. SNPs optimal for map coverage and MAF were favorable for obtaining accurate imputation of genotypes whereas trait-associated SNPs improved genomic prediction accuracies. Thus, optimal LD SNP panels were the ones that combined both strengths. The present results have practical implications on the design of LD SNP chips for imputation-enabled genomic prediction.


Asunto(s)
Bovinos/genética , Genómica/métodos , Polimorfismo de Nucleótido Simple , Animales , Femenino , Genotipo , Masculino , Estados Unidos
12.
Genet Sel Evol ; 50(1): 45, 2018 Sep 17.
Artículo en Inglés | MEDLINE | ID: mdl-30223766

RESUMEN

BACKGROUND: Genetic connectedness is classically used as an indication of the risk associated with breeding value comparisons across management units because genetic evaluations based on best linear unbiased prediction rely for their success on sufficient linkage among different units. In the whole-genome prediction era, the concept of genetic connectedness can be extended to measure a connectedness level between reference and validation sets. However, little is known regarding (1) the impact of non-additive gene action on genomic connectedness measures and (2) the relationship between the estimated level of connectedness and prediction accuracy in the presence of non-additive genetic variation. RESULTS: We evaluated the extent to which non-additive kernel relationship matrices increase measures of connectedness and investigated its relationship with prediction accuracy in the cross-validation framework using best linear unbiased prediction and coefficients of determination. Simulated data assuming additive, dominance, and epistatic gene action scenarios and real swine data were analyzed. We found that the joint use of additive and non-additive genomic kernel relationship matrices or non-parametric relationship matrices led to increased capturing of connectedness, up to 25%, and improved prediction accuracies compared to those of baseline additive relationship counterparts in the presence of non-additive gene action. CONCLUSIONS: Our findings showed that connectedness metrics can be extended to incorporate non-additive genetic variation of complex traits. Use of kernel relationship matrices designed to capture non-additive gene action increased measures of connectedness and improved whole-genome prediction accuracy, further broadening the scope of genomic connectedness studies.


Asunto(s)
Cruzamiento/métodos , Epistasis Genética , Genoma , Modelos Genéticos , Animales , Cruzamiento/normas , Genes Dominantes , Pleiotropía Genética , Variación Genética , Genotipo , Reproducibilidad de los Resultados , Porcinos/genética
13.
Genet Sel Evol ; 49(1): 91, 2017 Dec 20.
Artículo en Inglés | MEDLINE | ID: mdl-29262775

RESUMEN

BACKGROUND: Deterministic formulas for the accuracy of genomic predictions highlight the relationships among prediction accuracy and potential factors influencing prediction accuracy prior to performing computationally intensive cross-validation. Visualizing such deterministic formulas in an interactive manner may lead to a better understanding of how genetic factors control prediction accuracy. RESULTS: The software to simulate deterministic formulas for genomic prediction accuracy was implemented in R and encapsulated as a web-based Shiny application. Shiny genomic prediction accuracy simulator (ShinyGPAS) simulates various deterministic formulas and delivers dynamic scatter plots of prediction accuracy versus genetic factors impacting prediction accuracy, while requiring only mouse navigation in a web browser. ShinyGPAS is available at: https://chikudaisei.shinyapps.io/shinygpas/ . CONCLUSION: ShinyGPAS is a shiny-based interactive genomic prediction accuracy simulator using deterministic formulas. It can be used for interactively exploring potential factors that influence prediction accuracy in genome-enabled prediction, simulating achievable prediction accuracy prior to genotyping individuals, or supporting in-class teaching. ShinyGPAS is open source software and it is hosted online as a freely available web-based resource with an intuitive graphical user interface.


Asunto(s)
Gráficos por Computador/estadística & datos numéricos , Interpretación Estadística de Datos , Genómica/métodos , Programas Informáticos , Animales , Genoma
15.
J Dairy Sci ; 100(12): 9656-9666, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28987577

RESUMEN

The genomic prediction of unobserved genetic values or future phenotypes for complex traits has revolutionized agriculture and human medicine. Fertility traits are undoubtedly complex traits of great economic importance to the dairy industry. Although genomic prediction for improved cow fertility has received much attention, bull fertility largely has been ignored. The first aim of this study was to investigate the feasibility of genomic prediction of sire conception rate (SCR) in US Holstein dairy cattle. Standard genomic prediction often ignores any available information about functional features of the genome, although it is believed that such information can yield more accurate and more persistent predictions. Hence, the second objective was to incorporate prior biological information into predictive models and evaluate their performance. The analyses included the use of kernel-based models fitting either all single nucleotide polymorphisms (SNP; 55K) or only markers with presumed functional roles, such as SNP linked to Gene Ontology or Medical Subject Heading terms related to male fertility, or SNP significantly associated with SCR. Both single- and multikernel models were evaluated using linear and Gaussian kernels. Predictive ability was evaluated in 5-fold cross-validation. The entire set of SNP exhibited predictive correlations around 0.35. Neither Gene Ontology nor Medical Subject Heading gene sets achieved predictive abilities higher than their counterparts using random sets of SNP. Notably, kernel models fitting significant SNP achieved the best performance with increases in accuracy up to 5% compared with the standard whole-genome approach. Models fitting Gaussian kernels outperformed their counterparts fitting linear kernels irrespective of the set of SNP. Overall, our findings suggest that genomic prediction of bull fertility is feasible in dairy cattle. This provides potential for accurate genome-guided decisions, such as early culling of bull calves with low SCR predictions. In addition, exploiting nonlinear effects through the use of Gaussian kernels together with the incorporation of relevant markers seems to be a promising alternative to the standard approach. The inclusion of gene set results into prediction models deserves further research.


Asunto(s)
Bovinos/genética , Industria Lechera/métodos , Fertilidad/genética , Genotipo , Polimorfismo de Nucleótido Simple , Animales , Masculino , Modelos Genéticos , Estados Unidos
16.
Genet Sel Evol ; 48: 10, 2016 Feb 03.
Artículo en Inglés | MEDLINE | ID: mdl-26842494

RESUMEN

BACKGROUND: Genome-wide association studies in humans have found enrichment of trait-associated single nucleotide polymorphisms (SNPs) in coding regions of the genome and depletion of these in intergenic regions. However, a recent release of the ENCyclopedia of DNA elements showed that ~80 % of the human genome has a biochemical function. Similar studies on the chicken genome are lacking, thus assessing the relative contribution of its genic and non-genic regions to variation is relevant for biological studies and genetic improvement of chicken populations. METHODS: A dataset including 1351 birds that were genotyped with the 600K Affymetrix platform was used. We partitioned SNPs according to genome annotation data into six classes to characterize the relative contribution of genic and non-genic regions to genetic variation as well as their predictive power using all available quality-filtered SNPs. Target traits were body weight, ultrasound measurement of breast muscle and hen house egg production in broiler chickens. Six genomic regions were considered: intergenic regions, introns, missense, synonymous, 5' and 3' untranslated regions, and regions that are located 5 kb upstream and downstream of coding genes. Genomic relationship matrices were constructed for each genomic region and fitted in the models, separately or simultaneously. Kernel-based ridge regression was used to estimate variance components and assess predictive ability. Contribution of each class of genomic regions to dominance variance was also considered. RESULTS: Variance component estimates indicated that all genomic regions contributed to marked additive genetic variation and that the class of synonymous regions tended to have the greatest contribution. The marked dominance genetic variation explained by each class of genomic regions was similar and negligible (~0.05). In terms of prediction mean-square error, the whole-genome approach showed the best predictive ability. CONCLUSIONS: All genic and non-genic regions contributed to phenotypic variation for the three traits studied. Overall, the contribution of additive genetic variance to the total genetic variance was much greater than that of dominance variance. Our results show that all genomic regions are important for the prediction of the targeted traits, and the whole-genome approach was reaffirmed as the best tool for genome-enabled prediction of quantitative traits.


Asunto(s)
Pollos/genética , Genoma , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo , Animales , Peso Corporal/genética , Conjuntos de Datos como Asunto , Huevos , Femenino , Genómica , Genotipo , Carne/análisis , Fenotipo , Selección Genética
17.
BMC Bioinformatics ; 16: 45, 2015 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-25887539

RESUMEN

BACKGROUND: In genome-wide studies, over-representation analysis (ORA) against a set of genes is an essential step for biological interpretation. Many gene annotation resources and software platforms for ORA have been proposed. Recently, Medical Subject Headings (MeSH) terms, which are annotations of PubMed documents, have been used for ORA. MeSH enables the extraction of broader meaning from the gene lists and is expected to become an exhaustive annotation resource for ORA. However, the existing MeSH ORA software platforms are still not sufficient for several reasons. RESULTS: In this work, we developed an original MeSH ORA framework composed of six types of R packages, including MeSH.db, MeSH.AOR.db, MeSH.PCR.db, the org.MeSH.XXX.db-type packages, MeSHDbi, and meshr. CONCLUSIONS: Using our framework, users can easily conduct MeSH ORA. By utilizing the enriched MeSH terms, related PubMed documents can be retrieved and saved on local machines within this framework.


Asunto(s)
Biología Computacional/métodos , Almacenamiento y Recuperación de la Información/métodos , Medical Subject Headings , Anotación de Secuencia Molecular , PubMed , Programas Informáticos , Vocabulario Controlado , Animales , Restricción Calórica , Perfilación de la Expresión Génica , Estudio de Asociación del Genoma Completo , Humanos , Análisis de Secuencia por Matrices de Oligonucleótidos , Pseudomonas aeruginosa/genética , Ratas
18.
BMC Genomics ; 15: 109, 2014 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-24502227

RESUMEN

BACKGROUND: Genome-wide association studies have been deemed successful for identifying statistically associated genetic variants of large effects on complex traits. Past studies have found enrichment of trait-associated SNPs in functionally annotated regions, while depletion was reported for intergenic regions (IGR). However, no systematic examination of connections between genomic regions and predictive ability of complex phenotypes has been carried out. RESULTS: In this study, we partitioned SNPs based on their annotation to characterize genomic regions that deliver low and high predictive power for three broiler traits in chickens using a whole-genome approach. Additive genomic relationship kernels were constructed for each of the genic regions considered, and a kernel-based Bayesian ridge regression was employed as prediction machine. We found that the predictive performance for ultrasound area of breast meat from using genic regions marked by SNPs was consistently better than that from SNPs in IGR, while IGR tagged by SNPs were better than the genic regions for body weight and hen house egg production. We also noted that predictive ability delivered by the whole battery of markers was close to the best prediction achieved by one of the genomic regions. CONCLUSIONS: Whole-genome regression methods use all available quality filtered SNPs into a model, contrary to accommodating only validated SNPs from exonic or coding regions. Our results suggest that, while differences among genomic regions in terms of predictive ability were observed, the whole-genome approach remains as a promising tool if interest is on prediction of complex traits.


Asunto(s)
Pollos/genética , Estudio de Asociación del Genoma Completo , Genoma , Anotación de Secuencia Molecular , Sitios de Carácter Cuantitativo/genética , Animales , Teorema de Bayes , Peso Corporal/genética , Análisis por Conglomerados , ADN Intergénico/genética , ADN Intergénico/metabolismo , Huevos/análisis , Carne/análisis , Fenotipo , Polimorfismo de Nucleótido Simple
19.
Front Genet ; 15: 1308113, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38333619

RESUMEN

The livestock industry in Türkiye is vital to the country's agricultural sector and economy. In particular, sheep products are an important source of income and livelihood for many Turkish smallholder farmers in semi-arid and highland areas. Türkiye is one of the largest sheep producers in the world and its sheep production system is heavily dependent on indigenous breeds. Given the importance of the sheep industry in Türkiye, a systematic literature review on sheep breeding and genetic improvement in the country is needed for the development and optimization of sheep breeding programs using modern approaches, such as genomic selection. Therefore, we conducted a comprehensive literature review on the current characteristics of sheep populations and farms based on the most up-to-date census data and breeding and genetic studies obtained from scientific articles. The number of sheep has increased in recent years, mainly due to the state's policy of supporting livestock farming and the increase in consumer demand for sheep dairy products with high nutritional and health benefits. Most of the genetic studies on indigenous Turkish sheep have been limited to specific traits and breeds. The use of genomics was found to be incipient, with genomic analysis applied to only two major breeds for heritability or genome-wide association studies. The scope of heritability and genome-wide association studies should be expanded to include traits and breeds that have received little or no attention. It is also worth revisiting genetic diversity studies using genome-wide single nucleotide polymorphism markers. Although there was no report of genomic selection in Turkish sheep to date, genomics could contribute to overcoming the difficulties of implementing traditional pedigree-based breeding programs that require accurate pedigree recording. As indigenous sheep breeds are better adapted to the local environmental conditions, the proper use of breeding strategies will contribute to increased income, food security, and reduced environmental footprint in a sustainable manner.

20.
Plant Genome ; : e20481, 2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38926134

RESUMEN

Sesame (Sesamum indicum) is an important oilseed crop with rising demand owing to its nutritional and health benefits. There is an urgent need to develop and integrate new genomic-based breeding strategies to meet these future demands. While genomic resources have advanced genetic research in sesame, the implementation of high-throughput phenotyping and genetic analysis of longitudinal traits remains limited. Here, we combined high-throughput phenotyping and random regression models to investigate the dynamics of plant height, leaf area index, and five spectral vegetation indices throughout the sesame growing seasons in a diversity panel. Modeling the temporal phenotypic and additive genetic trajectories revealed distinct patterns corresponding to the sesame growth cycle. We also conducted longitudinal genomic prediction and association mapping of plant height using various models and cross-validation schemes. Moderate prediction accuracy was obtained when predicting new genotypes at each time point, and moderate to high values were obtained when forecasting future phenotypes. Association mapping revealed three genomic regions in linkage groups 6, 8, and 11, conferring trait variation over time and growth rate. Furthermore, we leveraged correlations between the temporal trait and seed-yield and applied multi-trait genomic prediction. We obtained an improvement over single-trait analysis, especially when phenotypes from earlier time points were used, highlighting the potential of using a high-throughput phenotyping platform as a selection tool. Our results shed light on the genetic control of longitudinal traits in sesame and underscore the potential of high-throughput phenotyping to detect a wide range of traits and genotypes that can inform sesame breeding efforts to enhance yield.

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