RESUMEN
Genomic relationships can be computed with dense genome-wide genotypes through different methods, either based on identity-by-state (IBS) or identity-by-descent (IBD). The latter has been shown to increase the accuracy of both estimated relationships and predicted breeding values. However, it is not clear whether an IBD approach would achieve greater heritability ( h 2 ) and predictive ability ( r Ì y , y Ì ) than its IBS counterpart for data with low-depth pedigrees. Here, we compare both approaches in terms of the estimated of h 2 and r Ì y , y Ì , using data on meat quality and carcass traits recorded in experimental crossbred pigs, with a pedigree constrained to only three generations. Three animal models were fitted which differed on the relationship matrix: an IBS model ( G IBS ), an IBD (defined within the known pedigree) model ( G IBD ), and a pedigree model ( A 22 ). In 9 of 20 traits, the range of increase for the estimates of σ u 2 and h 2 was 1.2-2.9 times greater with G IBS and G IBD models than with A 22 . Whereas for all traits, both parameters were similar between genomic models. The r Ì y , y Ì of the genomic models was higher compared to A 22 . A scarce increment in r Ì y , y Ì was found with G IBS when compared to G IBD , most likely due to the former recovering sizeable relationships among founder F0 animals.
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Carne de Cerdo , Animales , Porcinos/genética , GenómicaRESUMEN
BACKGROUND: The covariance matrix of breeding values is at the heart of prediction methods. Prediction of breeding values can be formulated using either an "observed" or a theoretical covariance matrix, and a major argument for choosing one or the other is the reduction of the computational burden for inverting such a matrix. In this regard, covariance matrices that are derived from Markov causal models possess properties that deliver sparse inverses. RESULTS: By using causal Markov models, we express the breeding value of an individual as a linear regression on ancestral breeding values, plus a residual term, which we call residual breeding value (RBV). The latter is a noise term that accounts for the uncertainty in prediction due to lack of fit of the linear regression. A notable property of these models is the parental Markov condition, through which the multivariate distribution of breeding values is uniquely determined by the distribution of the mutually independent RBV. Animal breeders have long been relying on a causal Markov model, while using the additive relationship matrix as the covariance matrix structure of breeding values, which is calculated assuming gametic equilibrium. However, additional covariances among breeding values arise due to identity disequilibrium, which is defined as the difference between the covariance matrix under the multi-loci probability of identity-by-descent ([Formula: see text]) and its expectation under gametic phase equilibrium, i.e., A. The disequilibrium term [Formula: see text]-A is considered in the model for predicting breeding values called the "ancestral regression" (AR), a causal Markov model. Here, we introduce the "ancestral regression to parents" (PAR) causal Markov model, which reduces the computational burden of the AR approach. By taking advantage of the conditional independence property of the PAR Markov model, we derive covariances between the breeding values of grandparents and grand-offspring and between parents and offspring. In addition, we obtain analytical expressions for the covariance between collateral relatives under the PAR model, as well as for the inbreeding coefficient. CONCLUSIONS: We introduced the causal PAR Markov model that captures identity disequilibrium in the covariances among breeding values and produces a sparse inverse covariance matrix to build and solve a set of mixed model equations.
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Endogamia , Modelos Genéticos , Animales , Modelos LinealesRESUMEN
Inbreeding depression reduces the mean phenotypic value of important traits in livestock populations. The goal of this work was to estimate the level of inbreeding and inbreeding depression for growth and reproductive traits in Argentinean Brangus cattle, in order to obtain a diagnosis and monitor breed management. Data comprised 359,257 (from which 1,990 were genotyped for 40,678 single nucleotide polymorphisms [SNPs]) animals with phenotypic records for at least one of three growth traits: birth weight (BW), weaning weight (WW), and finishing weight (FW). For scrotal circumference (SC), 52,399 phenotypic records (of which 256 had genotype) were available. There were 530,938 animals in pedigree. Three methods to estimate inbreeding coefficients were used. Pedigree-based inbreeding coefficients were estimated accounting for missing parents. Inbreeding coefficients combining genotyped and nongenotyped animal information were also computed from matrix H of the single-step approach. Genomic inbreeding coefficients were estimated using homozygous segments obtained from a Hidden Markov model (HMM) approach. Inbreeding depression was estimated from the regression of the phenotype on inbreeding coefficients in a multiple-trait mixed model framework, either for the whole dataset or for the dataset of genotyped animals. All traits were unfavorably affected by inbreeding depression. A 10% increase in pedigree-based or combined inbreeding would result in a reduction of 0.34 to 0.39 kg in BW, 2.77 to 3.28 kg in WW, and 0.23 cm in SC. For FW, a 10% increase in pedigree-based, genomic, or combined inbreeding would result in a decrease of 8.05 to 11.57 kg. Genomic inbreeding based on the HMM was able to capture inbreeding depression, even in such a compressed genotyped dataset.
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Depresión Endogámica , Animales , Bovinos/genética , Genómica , Genotipo , Endogamia , Linaje , Fenotipo , Polimorfismo de Nucleótido SimpleRESUMEN
The horn fly, Haematobiairritans is an obligate haematophagous cosmopolitan insect pest. The first reports of attacks on livestock by Haematobiairritans in Argentina and Uruguay occurred in 1991, and since 1993 it is considered an economically important pest. Knowledge on the genetic characteristics of the horn fly increases our understanding of the phenotypes resistant to insecticides that repeatedly develop in these insects. The karyotype of Haematobiairritans, as previously described using flies from an inbred colony, shows a chromosome complement of 2n=10 without heterochromosomes (sex chromosomes). In this study, we analyze for the first time the chromosome structure and variation of four wild populations of Haematobiairritans recently established in the Southern Cone of South America, collected in Argentina and Uruguay. In these wild type populations, we confirmed and characterized the previously published "standard" karyotype of 2n=10 without sex chromosomes; however, surprisingly a supernumerary element, called B-chromosome, was found in about half of mitotic preparations. The existence of statistically significant karyotypic diversity was demonstrated through the application of orcein staining, C-banding and H-banding. This study represents the first discovery and characterization of horn fly karyotypes with 2n=11 (2n=10+B). All spermatocytes analyzed showed 5 chromosome bivalents, and therefore, 2n=10 without an extra chromosome. Study of mitotic divisions showed that some chromosomal rearrangements affecting karyotype structure are maintained as polymorphisms, and multiple correspondence analyses demonstrated that genetic variation was not associated with geographic distribution. Because it was never observed during male meiosis, we hypothesize that B-chromosome is preferentially transmitted by females and that it might be related to sex determination.
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Quality control filtering of single-nucleotide polymorphisms (SNPs) is a key step when analyzing genomic data. Here we present a practical method to identify low-quality SNPs, meaning markers whose genotypes are wrongly assigned for a large proportion of individuals, by estimating the heritability of gene content at each marker, where gene content is the number of copies of a particular reference allele in a genotype of an animal (0, 1, or 2). If there is no mutation at the marker, gene content has an additive heritability of 1 by construction. The method uses restricted maximum likelihood (REML) to estimate heritability of gene content at each SNP and also builds a likelihood-ratio test statistic to test for zero error variance in genotyping. As a by-product, estimates of the allele frequencies of markers at the base population are obtained. Using simulated data with 10% permutation error (4% actual error) in genotyping, the method had a specificity of 0.96 (4% of correct markers are rejected) and a sensitivity of 0.99 (1% of wrong markers are accepted) if markers with heritability lower than 0.975 are discarded. Checking of Mendelian errors resulted in a lower sensitivity (0.84) for the same simulation. The proposed method is further illustrated with a real data set with genotypes from 3534 animals genotyped for 50,433 markers from the Illumina PorcineSNP60 chip and a pedigree of 6473 individuals; those markers underwent very little quality control. A total of 4099 markers with P-values lower than 0.01 were discarded based on our method, with associated estimates of heritability as low as 0.12. Contrary to other techniques, our method uses all information in the population simultaneously, can be used in any population with markers and pedigree recordings, and is simple to implement using standard software for REML estimation. Scripts for its use are provided.
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Genómica/normas , Técnicas de Genotipaje/normas , Modelos Genéticos , Linaje , Polimorfismo de Nucleótido Simple , Animales , Marcadores Genéticos , Técnicas de Genotipaje/métodos , Técnicas de Genotipaje/estadística & datos numéricos , Humanos , Funciones de Verosimilitud , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Análisis de Secuencia por Matrices de Oligonucleótidos/normas , Control de Calidad , Sensibilidad y Especificidad , Sus scrofaRESUMEN
The bloodsucking horn fly, Haematobia irritans (L.) (Diptera: Muscidae), is one of the most damaging pests of pasture cattle in many areas of the world. Both male and female imagoes spend their adult stage on the host, while immature stages develop in dung. Our goal was to determine if the progress of H. irritans gonad maturation can be correlated with eye and cuticle pigmentation events that occur during development of the imago within the puparium. The progression of germline cell divisions in immature gonads was analyzed from the beginning of the third larval instar (48 hours after egg hatch) until imago ecdysis. In the developing male larval gonad, meiosis began 72 hours after egg hatch, whereas in females oogonia were premeiotic at 72 hours. Meiosis was not detected in females until the mid-pharate adult stage, 120 hours after puparium formation. Therefore, gonad maturation in females appears to be delayed 144 hours with respect to that in males. In the stages within the puparium, the timing of germline cell division events was correlated with the progress of pigmentation of the eyes and cuticle as external markers.