Identification and characterisation of de novo germline structural variants in two commercial pig lines using trio-based whole genome sequencing.

BACKGROUND: De novo mutations arising in the germline are a source of genetic variation and their discovery broadens our understanding of genetic disorders and evolutionary patterns. Although the number of de novo single nucleotide variants (dnSNVs) has been studied in a number of species, relatively little is known about the occurrence of de novo structural variants (dnSVs). In this study, we investigated 37 deeply sequenced pig trios from two commercial lines to identify dnSVs present in the offspring. The identified dnSVs were characterised by identifying their parent of origin, their functional annotations and characterizing sequence homology at the breakpoints. RESULTS: We identified four swine germline dnSVs, all located in intronic regions of protein-coding genes. Our conservative, first estimate of the swine germline dnSV rate is 0.108 (95% CI 0.038-0.255) per generation (one dnSV per nine offspring), detected using short-read sequencing. Two detected dnSVs are clusters of mutations. Mutation cluster 1 contains a de novo duplication, a dnSNV and a de novo deletion. Mutation cluster 2 contains a de novo deletion and three de novo duplications, of which one is inverted. Mutation cluster 2 is 25 kb in size, whereas mutation cluster 1 (197 bp) and the other two individual dnSVs (64 and 573 bp) are smaller. Only mutation cluster 2 could be phased and is located on the paternal haplotype. Mutation cluster 2 originates from both micro-homology as well as non-homology mutation mechanisms, where mutation cluster 1 and the other two dnSVs are caused by mutation mechanisms lacking sequence homology. The 64 bp deletion and mutation cluster 1 were validated through PCR. Lastly, the 64 bp deletion and the 573 bp duplication were validated in sequenced offspring of probands with three generations of sequence data. CONCLUSIONS: Our estimate of 0.108 dnSVs per generation in the swine germline is conservative, due to our small sample size and restricted possibilities of dnSV detection from short-read sequencing. The current study highlights the complexity of dnSVs and shows the potential of breeding programs for pigs and livestock species in general, to provide a suitable population structure for identification and characterisation of dnSVs.

Genetic parameters for various random regression models to describe the weight data of pigs.

Various random regression models have been advocated for the fitting of covariance structures. It was suggested that a spline model would fit better to weight data than a random regression model that utilizes orthogonal polynomials. The objective of this study was to investigate which kind of random regression model fits best to weight data of pigs. Two random regression models that described weight of individual pigs, one using orthogonal polynomials, and the other using splines, were compared. A comparison with a multivariate model, Akaike's information criterion, and the Bayesian-Schwarz information criterion were used to select the best model. Genetic, permanent environmental, and total variances increased with age. Heritabilities for the multivariate model ranged from 0.14 to 0.19, and for both random regression models the heritabilities were fluctuating around 0.17. Both genetic and phenotypic correlations decreased when the interval between measurements increased. The spline model needed fewer parameters than the multivariate and polynomial models. Akaike's information criterion was least for the spline model and greatest for the multivariate model. The Bayesian-Schwarz information criterion was least for the polynomial model and greatest for the multivariate model. Residuals of all models were normally distributed. Based on these results, it is concluded that random regression models provide the best fit to pig weight data.

Genetic and phenotypic parameters for carcass and meat quality traits in commercial crossbred pigs.

Pork quality and carcass characteristics are now being integrated into swine breeding objectives because of their economic value. Understanding the genetic basis for these traits is necessary for this to be accomplished. The objective of this study was to estimate phenotypic and genetic parameters for carcass and meat quality traits in 2 Canadian swine populations. Data from a genomic selection study aimed at improving meat quality with a mating system involving hybrid Landrace × Large White and Duroc pigs were used to estimate heritabilities and phenotypic and genetic correlations among them. Data on 2,100 commercial crossbred pigs for meat quality and carcass traits were recorded with pedigrees compromising 9,439 animals over 15 generations. Significant fixed effects (company, sex, and slaughter batch), covariates (cold carcass weight and slaughter age), and random additive and common litter effects were fitted in the models. A series of pairwise bivariate analyses were implemented in ASReml to estimate phenotypic and genetic parameters. Heritability estimates (±SE) for carcass traits were moderate to high and ranged from 0.22 ± 0.08 for longissimus dorsi muscle area to 0.63 ± 0.04 for trimmed ham weight, except for firmness, which was low. Heritability estimates (±SE) for meat quality traits varied from 0.10 ± 0.04 to 0.39 ± 0.06 for the Minolta b* of ham quadriceps femoris muscle and shear force, respectively. Generally, most of the genetic correlations were significant (P < 0.05) and ranged from low (0.18 ± 0.07) to high (-0.97 ± 0.35). There were high negative genetic correlations between drip loss with pH and shear force and a positive correlation with cooking loss. Genetic correlations between carcass weight (both hot and cold) with carcass marbling were highly positive. It was concluded that selection for increasing primal and subprimal cut weights with better pork quality may be possible. Furthermore, the use of pH is confirmed as an indicator for pork water-holding capacity and cooking loss. The heritabilities of carcass and pork quality traits indicated that they can be improved using traditional breeding methods and genomic selection, respectively. The estimated genetic parameters for carcass and meat quality traits can be incorporated into the breeding programs that emphasize product quality in these Canadian swine populations.

Short communication: quantitative trait loci analysis on 17 nonproduction traits in the New Zealand dairy population.

Seven New Zealand Holstein-Friesian families and two Jersey families, a total of 274 sires, were analyzed in a granddaughter design for marker-quantitative trait loci associations. For 17 nonproduction traits (management, size, and conformation traits), an across-family analysis was undertaken using multimarker regression procedures. Threshold levels were set empirically by permuting the data. A quantitative trait locus for stature was identified on chromosome 14, which was significant at the 15% experimentwise level (suggestive linkage). The quantitative trait locus was identified to be segregating in three of the nine families.