RESUMEN
Genotype x environment (GxE) interaction for production traits in Fleckvieh cattle was assessed by means of various environmental descriptors (EDs). It was also of particular interest to search for EDs useful for studying differing robustness or resilience of individuals which implies reasonable GxE interaction. The set of studied EDs included farm/herd environment (e.g. herd size, housing/feeding regimes, herd production level), geographical location (e.g. height above sea level), temperature humidity index and fat-to-protein ratio. Milk, fat and protein yield deviations for the first test day, the first 100 days and the 305-day-yield of the first lactation were used as phenotypes. Genetic correlations were estimated with bi- and multivariate sire models in case of categorical EDs and reaction norm sire models in case of continuous EDs. Further, rank correlations of bulls' estimated breeding values were calculated for different environmental levels/classes. Almost all estimated genetic correlations were significantly different from 1, but not <0.93. There were some exceptions for extremely different classes/levels of some EDs (e.g. average herd-year production, organic vs conventional farm systems, way of concentrated feed supply). Rank correlations were rarely below 0.95. In summary, no substantial GxE interactions for milk production traits were found with the studied EDs.
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Interacción Gen-Ambiente , Leche , Animales , Bovinos/genética , Ambiente , Femenino , Genotipo , Lactancia/genética , Masculino , Leche/metabolismo , FenotipoRESUMEN
Variance components (VC) were estimated for the semen production trait ejaculate volume, sperm concentration and sperm motility in the Swiss cattle breeds Brown Swiss (BS), Original Braunvieh (OB), Holstein (HO), Red-Factor-Carrier (RF), Red Holstein (RH), Swiss Fleckvieh (SF) and Simmental (SI). For this purpose, semen production traits from 2,617 bulls with 124,492 records were used. The data were collected in the years 2000-2012. The model for genetic parameter estimation across all breeds included the fixed effects age of bull at collection, year of collection, month of collection, number of collection per bull and day, interval between consecutive collections, semen collector, bull breed as well as a random additive genetic component and a permanent environmental effect. The same model without a fixed breed effect was used to estimate VC and repeatabilities separately for each of the breeds BS, HO, RH, SF and SI. Estimated heritabilities across all breeds were 0.42, 0.25 and 0.09 for ejaculate volume, sperm concentration and sperm motility, respectively. Different heritabilities were estimated for ejaculate volume (0.42; 0.45; 0.49; 0.40; 0.10), sperm concentration (0.34; 0.30; 0.20; 0.07; 0.23) and number of semen portions (0.18; 0.30; 0.04; 0.14; 0.04) in BS, HO, RH, SF and SI breed, respectively. The phenotypic and genetic correlations across all breeds between ejaculate volume and sperm concentration were negative (-0.28; -0.56). The other correlations across all breeds were positive. The phenotypic and genetic correlations were 0.01 and 0.19 between sperm motility and ejaculate volume, respectively. Between sperm motility and sperm concentration, the phenotypic and genetic correlations were 0.20 and 0.36, respectively. The results are consistent with other analyses and show that genetic improvement through selection is possible in bull semen production traits.
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Bovinos/genética , Bovinos/fisiología , Semen/fisiología , Animales , Masculino , Análisis de Semen/veterinaria , Especificidad de la Especie , Motilidad Espermática/genéticaRESUMEN
BACKGROUND: This study aimed at (1) assessing the genomic stratification of experimental lines of Nelore cattle that have experienced different selection regimes for growth traits, and (2) identifying genomic regions that have undergone recent selection. We used a sample of 763 animals genotyped with the Illumina BovineHD BeadChip, among which 674 animals originated from two lines that are maintained under directional selection for increased yearling body weight and 89 animals from a control line that is maintained under stabilizing selection. RESULTS: Multidimensional analysis of the genomic dissimilarity matrix and admixture analysis revealed a substantial level of population stratification between the directional selection lines and the stabilizing selection control line. Two of the three tests used to detect selection signatures (FST, XP-EHH and iHS) revealed six candidate regions with indications of selection, which strongly indicates truly positive signals. The set of identified candidate genes included several genes with roles that are functionally related to growth metabolism, such as COL14A1, CPT1C, CRH, TBC1D1, and XKR4. CONCLUSIONS: The current study identified genetic stratification that resulted from almost four decades of divergent selection in an experimental Nelore population, and highlighted autosomal genomic regions that present patterns of recent selection. Our findings provide a basis for a better understanding of the metabolic mechanism that underlies the growth traits, which are modified by selection for yearling body weight.
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Bovinos/crecimiento & desarrollo , Polimorfismo de Nucleótido Simple , Selección Genética , Secuenciación Completa del Genoma/veterinaria , Animales , Cruzamiento , Bovinos/genética , Dermatoglifia del ADN , Metabolismo Energético , Femenino , Genotipo , Crecimiento , Haplotipos , Masculino , Fenotipo , Sitios de Carácter CuantitativoRESUMEN
BACKGROUND: Epistasis marker effect models incorporating products of marker values as predictor variables in a linear regression approach (extended GBLUP, EGBLUP) have been assessed as potentially beneficial for genomic prediction, but their performance depends on marker coding. Although this fact has been recognized in literature, the nature of the problem has not been thoroughly investigated so far. RESULTS: We illustrate how the choice of marker coding implicitly specifies the model of how effects of certain allele combinations at different loci contribute to the phenotype, and investigate coding-dependent properties of EGBLUP. Moreover, we discuss an alternative categorical epistasis model (CE) eliminating undesired properties of EGBLUP and show that the CE model can improve predictive ability. Finally, we demonstrate that the coding-dependent performance of EGBLUP offers the possibility to incorporate prior experimental information into the prediction method by adapting the coding to already available phenotypic records on other traits. CONCLUSION: Based on our results, for EGBLUP, a symmetric coding {-1,1} or {-1,0,1} should be preferred, whereas a standardization using allele frequencies should be avoided. Moreover, CE can be a valuable alternative since it does not possess the undesired theoretical properties of EGBLUP. However, which model performs best will depend on characteristics of the data and available prior information. Data from previous experiments can for instance be incorporated into the marker coding of EGBLUP.
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Epistasis Genética , Modelos Genéticos , Alelos , Animales , Ratones , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo , Triticum/genéticaRESUMEN
BACKGROUND: With the availability of next-generation sequencing technologies, genomic prediction based on whole-genome sequencing (WGS) data is now feasible in animal breeding schemes and was expected to lead to higher predictive ability, since such data may contain all genomic variants including causal mutations. Our objective was to compare prediction ability with high-density (HD) array data and WGS data in a commercial brown layer line with genomic best linear unbiased prediction (GBLUP) models using various approaches to weight single nucleotide polymorphisms (SNPs). METHODS: A total of 892 chickens from a commercial brown layer line were genotyped with 336 K segregating SNPs (array data) that included 157 K genic SNPs (i.e. SNPs in or around a gene). For these individuals, genome-wide sequence information was imputed based on data from re-sequencing runs of 25 individuals, leading to 5.2 million (M) imputed SNPs (WGS data), including 2.6 M genic SNPs. De-regressed proofs (DRP) for eggshell strength, feed intake and laying rate were used as quasi-phenotypic data in genomic prediction analyses. Four weighting factors for building a trait-specific genomic relationship matrix were investigated: identical weights, -(log10 P) from genome-wide association study results, squares of SNP effects from random regression BLUP, and variable selection based weights (known as BLUP|GA). Predictive ability was measured as the correlation between DRP and direct genomic breeding values in five replications of a fivefold cross-validation. RESULTS: Averaged over the three traits, the highest predictive ability (0.366 ± 0.075) was obtained when only genic SNPs from WGS data were used. Predictive abilities with genic SNPs and all SNPs from HD array data were 0.361 ± 0.072 and 0.353 ± 0.074, respectively. Prediction with -(log10 P) or squares of SNP effects as weighting factors for building a genomic relationship matrix or BLUP|GA did not increase accuracy, compared to that with identical weights, regardless of the SNP set used. CONCLUSIONS: Our results show that little or no benefit was gained when using all imputed WGS data to perform genomic prediction compared to using HD array data regardless of the weighting factors tested. However, using only genic SNPs from WGS data had a positive effect on prediction ability.
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Genoma , Genómica , Modelos Genéticos , Algoritmos , Alelos , Animales , Cruzamiento , Pollos/genética , Mapeo Cromosómico , Femenino , Estudio de Asociación del Genoma Completo , Genómica/métodos , Secuenciación de Nucleótidos de Alto Rendimiento , Masculino , Análisis de Secuencia por Matrices de Oligonucleótidos , Polimorfismo de Nucleótido SimpleRESUMEN
KEY MESSAGE: Models based on additive marker effects and on epistatic interactions can be translated into genomic relationship models. This equivalence allows to perform predictions based on complex gene interaction models and reduces computational effort significantly. In the theory of genome-assisted prediction, the equivalence of a linear model based on independent and identically normally distributed marker effects and a model based on multivariate Gaussian distributed breeding values with genomic relationship as covariance matrix is well known. In this work, we demonstrate equivalences of marker effect models incorporating epistatic interactions and corresponding mixed models based on relationship matrices and show how to exploit these equivalences computationally for genome-assisted prediction. In particular, we show how models with epistatic interactions of higher order (e.g., three-factor interactions) translate into linear models with certain covariance matrices and demonstrate how to construct epistatic relationship matrices for the linear mixed model, if we restrict the model to interactions defined a priori. We illustrate the practical relevance of our results with a publicly available data set on grain yield of wheat lines growing in four different environments. For this purpose, we select important interactions in one environment and use this knowledge on the network of interactions to increase predictive ability of grain yield under other environmental conditions. Our results provide a guide for building relationship matrices based on knowledge on the structure of trait-related gene networks.
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Epistasis Genética , Genoma de Planta , Modelos Genéticos , Triticum/genética , Ambiente , Modelos Lineales , Fitomejoramiento , Selección GenéticaRESUMEN
BACKGROUND: The technical progress in the last decade has made it possible to sequence millions of DNA reads in a relatively short time frame. Several variant callers based on different algorithms have emerged and have made it possible to extract single nucleotide polymorphisms (SNPs) out of the whole-genome sequence. Often, only a few individuals of a population are sequenced completely and imputation is used to obtain genotypes for all sequence-based SNP loci for other individuals, which have been genotyped for a subset of SNPs using a genotyping array. METHODS: First, we compared the sets of variants detected with different variant callers, namely GATK, freebayes and SAMtools, and checked the quality of genotypes of the called variants in a set of 50 fully sequenced white and brown layers. Second, we assessed the imputation accuracy (measured as the correlation between imputed and true genotype per SNP and per individual, and genotype conflict between father-progeny pairs) when imputing from high density SNP array data to whole-genome sequence using data from around 1000 individuals from six different generations. Three different imputation programs (Minimac, FImpute and IMPUTE2) were checked in different validation scenarios. RESULTS: There were 1,741,573 SNPs detected by all three callers on the studied chromosomes 3, 6, and 28, which was 71.6 % (81.6 %, 88.0 %) of SNPs detected by GATK (SAMtools, freebayes) in total. Genotype concordance (GC) defined as the proportion of individuals whose array-derived genotypes are the same as the sequence-derived genotypes over all non-missing SNPs on the array were 0.98 (GATK), 0.97 (freebayes) and 0.98 (SAMtools). Furthermore, the percentage of variants that had high values (>0.9) for another three measures (non-reference sensitivity, non-reference genotype concordance and precision) were 90 (88, 75) for GATK (SAMtools, freebayes). With all imputation programs, correlation between original and imputed genotypes was >0.95 on average with randomly masked 1000 SNPs from the SNP array and >0.85 for a leave-one-out cross-validation within sequenced individuals. CONCLUSIONS: Performance of all variant callers studied was very good in general, particularly for GATK and SAMtools. FImpute performed slightly worse than Minimac and IMPUTE2 in terms of genotype correlation, especially for SNPs with low minor allele frequency, while it had lowest numbers in Mendelian conflicts in available father-progeny pairs. Correlations of real and imputed genotypes remained constantly high even if individuals to be imputed were several generations away from the sequenced individuals.
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Pollos/genética , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Polimorfismo de Nucleótido Simple/genética , Algoritmos , Alelos , Animales , Estudio de Asociación del Genoma CompletoRESUMEN
This is the first large-scale experimental study on genome-based prediction of testcross values in an advanced cycle breeding population of maize. The study comprised testcross progenies of 1,380 doubled haploid lines of maize derived from 36 crosses and phenotyped for grain yield and grain dry matter content in seven locations. The lines were genotyped with 1,152 single nucleotide polymorphism markers. Pedigree data were available for three generations. We used best linear unbiased prediction and stratified cross-validation to evaluate the performance of prediction models differing in the modeling of relatedness between inbred lines and in the calculation of genome-based coefficients of similarity. The choice of similarity coefficient did not affect prediction accuracies. Models including genomic information yielded significantly higher prediction accuracies than the model based on pedigree information alone. Average prediction accuracies based on genomic data were high even for a complex trait like grain yield (0.72-0.74) when the cross-validation scheme allowed for a high degree of relatedness between the estimation and the test set. When predictions were performed across distantly related families, prediction accuracies decreased significantly (0.47-0.48). Prediction accuracies decreased with decreasing sample size but were still high when the population size was halved (0.67-0.69). The results from this study are encouraging with respect to genome-based prediction of the genetic value of untested lines in advanced cycle breeding populations and the implementation of genomic selection in the breeding process.
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Genoma de Planta , Modelos Genéticos , Zea mays/genética , Cruzamiento , Cruzamientos Genéticos , Variación Genética , Genotipo , Fenotipo , Polimorfismo GenéticoRESUMEN
Important traits in agricultural, natural, and human populations are increasingly being shown to be under the control of many genes that individually contribute only a small proportion of genetic variation. However, the majority of modern tools in quantitative and population genetics, including genome-wide association studies and selection-mapping protocols, are designed to identify individual genes with large effects. We have developed an approach to identify traits that have been under selection and are controlled by large numbers of loci. In contrast to existing methods, our technique uses additive-effects estimates from all available markers, and relates these estimates to allele-frequency change over time. Using this information, we generate a composite statistic, denoted [Formula: see text] which can be used to test for significant evidence of selection on a trait. Our test requires pre- and postselection genotypic data but only a single time point with phenotypic information. Simulations demonstrate that [Formula: see text] is powerful for identifying selection, particularly in situations where the trait being tested is controlled by many genes, which is precisely the scenario where classical approaches for selection mapping are least powerful. We apply this test to breeding populations of maize and chickens, where we demonstrate the successful identification of selection on traits that are documented to have been under selection.
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Modelos Genéticos , Carácter Cuantitativo Heredable , Selección Genética , Algoritmos , Animales , Pollos/genética , Mapeo Cromosómico , Simulación por Computador , Genotipo , Fenotipo , Sitios de Carácter Cuantitativo , Zea mays/genéticaRESUMEN
Obtaining accurate predictions of unobserved genetic or phenotypic values for complex traits in animal, plant, and human populations is possible through whole-genome prediction (WGP), a combined analysis of genotypic and phenotypic data. Because the underlying genetic architecture of the trait of interest is an important factor affecting model selection, we propose a new strategy, termed BLUP|GA (BLUP-given genetic architecture), which can use genetic architecture information within the dataset at hand rather than from public sources. This is achieved by using a trait-specific covariance matrix ( T: ), which is a weighted sum of a genetic architecture part ( S: matrix) and the realized relationship matrix ( G: ). The algorithm of BLUP|GA (BLUP-given genetic architecture) is provided and illustrated with real and simulated datasets. Predictive ability of BLUP|GA was validated with three model traits in a dairy cattle dataset and 11 traits in three public datasets with a variety of genetic architectures and compared with GBLUP and other approaches. Results show that BLUP|GA outperformed GBLUP in 20 of 21 scenarios in the dairy cattle dataset and outperformed GBLUP, BayesA, and BayesB in 12 of 13 traits in the analyzed public datasets. Further analyses showed that the difference of accuracies for BLUP|GA and GBLUP significantly correlate with the distance between the T: and G: matrices. The new strategy applied in BLUP|GA is a favorable and flexible alternative to the standard GBLUP model, allowing to account for the genetic architecture of the quantitative trait under consideration when necessary. This feature is mainly due to the increased similarity between the trait-specific relationship matrix ( T: matrix) and the genetic relationship matrix at unobserved causal loci. Applying BLUP|GA in WGP would ease the burden of model selection.
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Genoma , Modelos Genéticos , Animales , Teorema de Bayes , Cruzamiento , Bovinos , Bases de Datos Genéticas , Variación Genética , Estudio de Asociación del Genoma Completo , Genotipo , Fenotipo , Polimorfismo de Nucleótido Simple , Sitios de Carácter CuantitativoRESUMEN
The number of piglets born alive (NBA) per litter is one of the most important traits in pig breeding due to its influence on production efficiency. It is difficult to improve NBA because the heritability of the trait is low and it is governed by a high number of loci with low to moderate effects. To clarify the biological and genetic background of NBA, genome-wide association studies (GWAS) were performed using 4,012 Large White and Landrace pigs from herdbook and commercial breeding companies in Germany (3), Austria (1) and Switzerland (1). The animals were genotyped with the Illumina PorcineSNP60 BeadChip. Because of population stratifications within and between breeds, clusters were formed using the genetic distances between the populations. Five clusters for each breed were formed and analysed by GWAS approaches. In total, 17 different significant markers affecting NBA were found in regions with known effects on female reproduction. No overlapping significant chromosome areas or QTL between Large White and Landrace breed were detected.
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Estudio de Asociación del Genoma Completo , Tamaño de la Camada/genética , Nacimiento Vivo , Sus scrofa , Animales , Mapeo Cromosómico , Femenino , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo/genética , Especificidad de la EspecieRESUMEN
The understanding of non-random association between loci, termed linkage disequilibrium (LD), plays a central role in genomic research. Since causal mutations are generally not included in genomic marker data, LD between those and available markers is essential for capturing the effects of causal loci on localizing genes responsible for traits. Thus, the interpretation of association studies requires a detailed knowledge of LD patterns. It is well known that most LD measures depend on minor allele frequencies (MAF) of the considered loci and the magnitude of LD is influenced by the physical distances between loci. In the present study, a procedure to compare the LD structure between genomic regions comprising several markers each is suggested. The approach accounts for different scaling factors, namely the distribution of MAF, the distribution of pair-wise differences in MAF, and the physical extent of compared regions, reflected by the distribution of pair-wise physical distances. In the first step, genomic regions are matched based on similarity in these scaling factors. In the second step, chromosome- and genome-wide significance tests for differences in medians of LD measures in each pair are performed. The proposed framework was applied to test the hypothesis that the average LD is different in genic and non-genic regions. This was tested with a genome-wide approach with data sets for humans (Homo sapiens), a highly selected chicken line (Gallus gallus domesticus) and the model plant Arabidopsis thaliana. In all three data sets we found a significantly higher level of LD in genic regions compared to non-genic regions. About 31% more LD was detected genome-wide in genic compared to non-genic regions in Arabidopsis thaliana, followed by 13.6% in human and 6% chicken. Chromosome-wide comparison discovered significant differences on all 5 chromosomes in Arabidopsis thaliana and on one third of the human and of the chicken chromosomes.
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Pollos/genética , Genómica/métodos , Desequilibrio de Ligamiento , Animales , Mapeo Cromosómico , Frecuencia de los Genes , Genoma Humano , Genoma de Planta , HumanosRESUMEN
An increasing interest is being placed in the detection of genes, or genomic regions, that have been targeted by selection because identifying signatures of selection can lead to a better understanding of genotype-phenotype relationships. A common strategy for the detection of selection signatures is to compare samples from distinct populations and to search for genomic regions with outstanding genetic differentiation. The aim of this study was to detect selective signatures in layer chicken populations using a recently proposed approach, hapFLK, which exploits linkage disequilibrium information while accounting appropriately for the hierarchical structure of populations. We performed the analysis on 70 individuals from three commercial layer breeds (White Leghorn, White Rock and Rhode Island Red), genotyped for approximately 1 million SNPs. We found a total of 41 and 107 regions with outstanding differentiation or similarity using hapFLK and its single SNP counterpart FLK respectively. Annotation of selection signature regions revealed various genes and QTL corresponding to productions traits, for which layer breeds were selected. A number of the detected genes were associated with growth and carcass traits, including IGF-1R, AGRP and STAT5B. We also annotated an interesting gene associated with the dark brown feather color mutational phenotype in chickens (SOX10). We compared FST, FLK and hapFLK and demonstrated that exploiting linkage disequilibrium information and accounting for hierarchical population structure decreased the false detection rate.
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Pollos/genética , Biología Computacional/métodos , Genómica/métodos , Desequilibrio de Ligamiento , Selección Genética , Animales , Proteínas Aviares/genética , Pollos/clasificación , Pollos/crecimiento & desarrollo , Mapeo Cromosómico , Femenino , Frecuencia de los Genes , Genética de Población/métodos , Genotipo , Haplotipos , Fenotipo , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo/genética , Factores de Transcripción SOXE/genéticaRESUMEN
Utilizing the whole genomic variation of complex traits to predict the yet-to-be observed phenotypes or unobserved genetic values via whole genome prediction (WGP) and to infer the underlying genetic architecture via genome wide association study (GWAS) is an interesting and fast developing area in the context of human disease studies as well as in animal and plant breeding. Though thousands of significant loci for several species were detected via GWAS in the past decade, they were not used directly to improve WGP due to lack of proper models. Here, we propose a generalized way of building trait-specific genomic relationship matrices which can exploit GWAS results in WGP via a best linear unbiased prediction (BLUP) model for which we suggest the name BLUP|GA. Results from two illustrative examples show that using already existing GWAS results from public databases in BLUP|GA improved the accuracy of WGP for two out of the three model traits in a dairy cattle data set, and for nine out of the 11 traits in a rice diversity data set, compared to the reference methods GBLUP and BayesB. While BLUP|GA outperforms BayesB, its required computing time is comparable to GBLUP. Further simulation results suggest that accounting for publicly available GWAS results is potentially more useful for WGP utilizing smaller data sets and/or traits of low heritability, depending on the genetic architecture of the trait under consideration. To our knowledge, this is the first study incorporating public GWAS results formally into the standard GBLUP model and we think that the BLUP|GA approach deserves further investigations in animal breeding, plant breeding as well as human genetics.
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Bovinos/genética , Bases de Datos de Ácidos Nucleicos , Genoma de Planta/fisiología , Estudio de Asociación del Genoma Completo/métodos , Modelos Genéticos , Oryza/genética , Sitios de Carácter Cuantitativo , Animales , HumanosRESUMEN
Identifying signatures of selection can provide valuable insight about the genes or genomic regions that are or have been under selective pressure, which can lead to a better understanding of genotype-phenotype relationships. A common strategy for selection signature detection is to compare samples from several populations and search for genomic regions with outstanding genetic differentiation. Wright's fixation index, FST, is a useful index for evaluation of genetic differentiation between populations. The aim of this study was to detect selective signatures between different chicken groups based on SNP-wise FST calculation. A total of 96 individuals of three commercial layer breeds and 14 non-commercial fancy breeds were genotyped with three different 600K SNP-chips. After filtering a total of 1 million SNPs were available for FST calculation. Averages of FST values were calculated for overlapping windows. Comparisons of these were then conducted between commercial egg layers and non-commercial fancy breeds, as well as between white egg layers and brown egg layers. Comparing non-commercial and commercial breeds resulted in the detection of 630 selective signatures, while 656 selective signatures were detected in the comparison between the commercial egg-layer breeds. Annotation of selection signature regions revealed various genes corresponding to productions traits, for which layer breeds were selected. Among them were NCOA1, SREBF2 and RALGAPA1 associated with reproductive traits, broodiness and egg production. Furthermore, several of the detected genes were associated with growth and carcass traits, including POMC, PRKAB2, SPP1, IGF2, CAPN1, TGFb2 and IGFBP2. Our approach demonstrates that including different populations with a specific breeding history can provide a unique opportunity for a better understanding of farm animal selection.
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Pollos/genética , Genómica , Polimorfismo de Nucleótido Simple , Animales , Femenino , Genética de Población , Análisis de Componente PrincipalRESUMEN
Prediction of genomic breeding values is of major practical relevance in dairy cattle breeding. Deterministic equations have been suggested to predict the accuracy of genomic breeding values in a given design which are based on training set size, reliability of phenotypes, and the number of independent chromosome segments ([Formula: see text]). The aim of our study was to find a general deterministic equation for the average accuracy of genomic breeding values that also accounts for marker density and can be fitted empirically. Two data sets of 5'698 Holstein Friesian bulls genotyped with 50 K SNPs and 1'332 Brown Swiss bulls genotyped with 50 K SNPs and imputed to â¼600 K SNPs were available. Different k-fold (kâ=â2-10, 15, 20) cross-validation scenarios (50 replicates, random assignment) were performed using a genomic BLUP approach. A maximum likelihood approach was used to estimate the parameters of different prediction equations. The highest likelihood was obtained when using a modified form of the deterministic equation of Daetwyler et al. (2010), augmented by a weighting factor (w) based on the assumption that the maximum achievable accuracy is [Formula: see text]. The proportion of genetic variance captured by the complete SNP sets ([Formula: see text]) was 0.76 to 0.82 for Holstein Friesian and 0.72 to 0.75 for Brown Swiss. When modifying the number of SNPs, w was found to be proportional to the log of the marker density up to a limit which is population and trait specific and was found to be reached with â¼20'000 SNPs in the Brown Swiss population studied.
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Cruzamiento , Marcadores Genéticos/genética , Genómica/métodos , Modelos Estadísticos , Animales , Bovinos , Industria Lechera , Femenino , Técnicas de Genotipaje , Funciones de Verosimilitud , Masculino , Polimorfismo de Nucleótido Simple , Reproducibilidad de los ResultadosRESUMEN
Genomic data provide a valuable source of information for modeling covariance structures, allowing a more accurate prediction of total genetic values (GVs). We apply the kriging concept, originally developed in the geostatistical context for predictions in the low-dimensional space, to the high-dimensional space spanned by genomic single nucleotide polymorphism (SNP) vectors and study its properties in different gene-action scenarios. Two different kriging methods ["universal kriging" (UK) and "simple kriging" (SK)] are presented. As a novelty, we suggest use of the family of Matérn covariance functions to model the covariance structure of SNP vectors. A genomic best linear unbiased prediction (GBLUP) is applied as a reference method. The three approaches are compared in a whole-genome simulation study considering additive, additive-dominance, and epistatic gene-action models. Predictive performance is measured in terms of correlation between true and predicted GVs and average true GVs of the individuals ranked best by prediction. We show that UK outperforms GBLUP in the presence of dominance and epistatic effects. In a limiting case, it is shown that the genomic covariance structure proposed by VanRaden (2008) can be considered as a covariance function with corresponding quadratic variogram. We also prove theoretically that if a specific linear relationship exists between covariance matrices for two linear mixed models, the GVs resulting from BLUP are linked by a scaling factor. Finally, the relation of kriging to other models is discussed and further options for modeling the covariance structure, which might be more appropriate in the genomic context, are suggested.
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Cruzamiento , Genética de Población/métodos , Modelos Genéticos , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo , Análisis de Varianza , Animales , Teorema de Bayes , Epistasis Genética , Genética de Población/estadística & datos numéricos , Genoma , Modelos Lineales , Plantas , Valor Predictivo de las Pruebas , Sitios de Carácter Cuantitativo/genética , Programas InformáticosRESUMEN
The objective of this study was to estimate the contribution of each autosome to genetic variation of milk yield, fat, and protein percentage and somatic cell score in Holstein cattle. Data on 2294 Holstein bulls genotyped for 39,557 autosomal markers were used. Three approaches were applied to estimate the proportion of genetic variance attributed to each chromosome. In two of them, marker-derived kinship coefficients were computed, using either marker genotypes observed on the whole genome or on subsets relative to each chromosome. Variance components were then estimated using residual maximum likelihood in method 1 or a regression-based approach in method 2. In method 3, genetic variances associated to each marker were estimated in a linear multiple regression approach, and then were summed up chromosome-wise. Generally, all chromosomes contributed to genetic variation. For most of the chromosomes, the amount of variance attributed to a chromosome was found to be proportional to its physical length. Nevertheless, for traits influenced by genes with very large effects a larger proportion of the genetic variance is expected to be associated with the chromosomes where these genes are. This is illustrated with the DGAT1 gene on BTA14 which is known to have a large effect on fat percentage in milk. The proportion of genetic variance for fat percentage associated with chromosome 14 was two to sevenfold (depending on the method) larger than would be predicted from chromosome size alone. Based on method 3 an approach is suggested to estimate the effective number of genes underlying the inheritance of the studied traits, yielding numbers between N ≈ 400 (for fat percentage) to N ≈ 900 (for milk yield). It is argued that these numbers are conservative lower bound estimates, but are in line with recent findings suggesting a highly polygenic background of production traits in dairy cattle.