Genome-wide association analyses reveals copy number variant regions associated with reproduction and disease traits in Canadian Holstein cattle.

This study aimed to evaluate the impact of copy number variants (CNVs) on 13 reproduction and 12 disease traits in Holstein cattle. Intensity signal files containing Log R ratio and B allele frequency information from 13,730 Holstein animals genotyped with a 95K SNP panel, and 8,467 Holstein animals genotyped with a 50K SNP panel were used to identify the CNVs. Subsequently, the identified CNVs were validated using whole genome sequence data from 126 animals, resulting in 870 high-confidence CNV regions (CNVRs) on 12,131 animals. Out of these, 54 CNVRs had frequencies higher than or equal to 1% in the population and were used in the genome-wide association analysis (one CNVR at a time, including the G matrix). Results revealed that 4 CNVRs were significantly (p-value < 3.7 × 10-5) associated with at least one of the traits analyzed in this study. Specifically, 2 CNVRs were associated with 3 reproduction traits (i.e., calf survival, first service to conception, and non-return rate), and 2 CNVRs were associated with 2 disease traits (i.e., metritis and retained placenta). These CNVRs harbored genes implicated in immune response, cellular signaling, and neuronal development, supporting their potential involvement in these traits. Further investigations to unravel the mechanistic and functional implications of these CNVRs on the mentioned traits are warranted.

The Resilient Dairy Genome Project-A general overview of methods and objectives related to feed efficiency and methane emissions.

The Resilient Dairy Genome Project (RDGP) is an international large-scale applied research project that aims to generate genomic tools to breed more resilient dairy cows. In this context, improving feed efficiency and reducing greenhouse gases from dairy is a high priority. The inclusion of traits related to feed efficiency (e.g., dry matter intake [DMI]) or greenhouse gases (e.g., methane emissions [CH4]) relies on available genotypes as well as high quality phenotypes. Currently, 7 countries (i.e., Australia, Canada, Denmark, Germany, Spain, Switzerland, and United States) contribute with genotypes and phenotypes including DMI and CH4. However, combining data are challenging due to differences in recording protocols, measurement technology, genotyping, and animal management across sources. In this study, we provide an overview of how the RDGP partners address these issues to advance international collaboration to generate genomic tools for resilient dairy. Specifically, we describe the current state of the RDGP database, data collection protocols in each country, and the strategies used for managing the shared data. As of February 2022, the database contains 1,289,593 DMI records from 12,687 cows and 17,403 CH4 records from 3,093 cows and continues to grow as countries upload new data over the coming years. No strong genomic differentiation between the populations was identified in this study, which may be beneficial for eventual across-country genomic predictions. Moreover, our results reinforce the need to account for the heterogeneity in the DMI and CH4 phenotypes in genomic analysis.

Identification of genetic markers associated with hyperketonemia patterns in early lactation Holstein cows.

Ketosis, evidenced by hyperketonemia with elevated blood ß-hydroxybutyrate (BHB) levels, is a significant metabolic disorder of dairy cattle, typically diagnosed within the first 6 weeks post-calving when high energy levels are essential to milk production. Our study aimed to identify genetic markers linked to hyperketonemia (HYK) patterns in Holstein cows during early lactation and compare these to HYK-negative cows. We screened 964 cows for HYK using a threshold of BHB ≥1.2 mmol/L during the first 2 weeks postpartum (screening period, SP). Cows that tested negative initially were retested the following week. Cows were deemed HYK-negative (CON group) if BHB levels were below 1.2 mmol/L in both tests, while those with BHB levels exceeding this threshold at any test were treated and classified as HYK-positive (HYK+). Post-treatment, HYK+ cows were monitored for two-week follow-up period (FP) and classified based on their recovery: cured (CUR; consistently low BHB), recurrent (REC; fluctuating BHB levels), severe (SEV; high initial BHB that decreased), or chronic (CHR; persistently high BHB). Using 489 cows that were genotyped, a GWAS was conducted using GCTA software, revealing significant associations of several SNPs across different HYK patterns when compared to the CON group. These SNPs were primarily linked to genes affecting milk traits and were enriched in biological pathways relevant to protein glycosylation, inflammatory response, glucose homeostasis, and fatty acid synthesis. Our findings highlight genomic regions, potential candidate genes, and biological pathways related to ketosis, underscoring potential targets for improving health management in dairy cattle. These insights could lead to better strategies for managing ketosis through genetic selection, ultimately enhancing dairy cattle welfare and productivity. Further research with a larger number of cows is recommended to validate these findings and help confirm the implicated SNPs and genes.

Genetic Variants Affecting Skeletal Morphology in Domestic Dogs.

Purebred dog breeds provide a powerful resource for the discovery of genetic variants affecting skeletal morphology. Domesticated and subsequently purebred dogs have undergone strong artificial selection for a broad range of skeletal variation, which include both the size and shapes of their bones. While the phenotypic variation between breeds is high, within-breed morphological variation is typically low. Approaches for defining genetic variants associated with canine morphology include quantitative within-breed analyses, as well as across-breed analyses, using breed standards as proxies for individual measurements. The ability to identify variants across the genomes of individual dogs can now be paired with precise measures of morphological variation to define the genetic interactions and the phenotypic effect of variants on skeletal morphology.

Genome-wide association study for milk production and conformation traits in Canadian Alpine and Saanen dairy goats.

Increasing the productivity of Canadian dairy goats is critical to the competitiveness of the sector; however, little is known about the underlying genetic architecture of economically important traits in these populations. Consequently, the objectives of this study were as follows: (1) to perform a single-step GWAS for milk production traits (milk, protein, and fat yields, and protein and fat percentages in first and later lactations) and conformation traits (body capacity, dairy character, feet and legs, fore udder, general appearance, rear udder, suspensory ligament, and teats) in the Canadian Alpine and Saanen breeds; and (2) to identify positional and functional candidate genes related to these traits. The data available for analysis included 305-d milk production records for 6,409 Alpine and 3,434 Saanen does in first lactation and 5,827 Alpine and 2,632 Saanen does in later lactations; as well as linear type conformation records for 5,158 Alpine and 2,342 Saanen does. Genotypes were available for 833 Alpine and 874 Saanen animals. Both single-breed and multiple-breed GWAS were performed using single-trait animal models. Positional and functional candidate genes were then identified in downstream analyses. The GWAS identified 189 unique SNP that were significant at the chromosomal level, corresponding to 271 unique positional candidate genes within 50 kb up- and downstream, across breeds and traits. This study provides evidence for the economic importance of several candidate genes (e.g., CSN1S1, CSN2, CSN1S2, CSN3, DGAT1, and ZNF16) in the Canadian Alpine and Saanen populations that have been previously reported in other dairy goat populations. Moreover, several novel positional and functional candidate genes (e.g., RPL8, DCK, and MOB1B) were also identified. Overall, the results of this study have provided greater insight into the genetic architecture of milk production and conformation traits in the Canadian Alpine and Saanen populations. Greater understanding of these traits will help to improve dairy goat breeding programs.

Sharing of either phenotypes or genetic variants can increase the accuracy of genomic prediction of feed efficiency.

BACKGROUND: Sharing individual phenotype and genotype data between countries is complex and fraught with potential errors, while sharing summary statistics of genome-wide association studies (GWAS) is relatively straightforward, and thus would be especially useful for traits that are expensive or difficult-to-measure, such as feed efficiency. Here we examined: (1) the sharing of individual cow data from international partners; and (2) the use of sequence variants selected from GWAS of international cow data to evaluate the accuracy of genomic estimated breeding values (GEBV) for residual feed intake (RFI) in Australian cows. RESULTS: GEBV for RFI were estimated using genomic best linear unbiased prediction (GBLUP) with 50k or high-density single nucleotide polymorphisms (SNPs), from a training population of 3797 individuals in univariate to trivariate analyses where the three traits were RFI phenotypes calculated using 584 Australian lactating cows (AUSc), 824 growing heifers (AUSh), and 2526 international lactating cows (OVE). Accuracies of GEBV in AUSc were evaluated by either cohort-by-birth-year or fourfold random cross-validations. GEBV of AUSc were also predicted using only the AUS training population with a weighted genomic relationship matrix constructed with SNPs from the 50k array and sequence variants selected from a meta-GWAS that included only international datasets. The genomic heritabilities estimated using the AUSc, OVE and AUSh datasets were moderate, ranging from 0.20 to 0.36. The genetic correlations (rg) of traits between heifers and cows ranged from 0.30 to 0.95 but were associated with large standard errors. The mean accuracies of GEBV in Australian cows were up to 0.32 and almost doubled when either overseas cows, or both overseas cows and AUS heifers were included in the training population. They also increased when selected sequence variants were combined with 50k SNPs, but with a smaller relative increase. CONCLUSIONS: The accuracy of RFI GEBV increased when international data were used or when selected sequence variants were combined with 50k SNP array data. This suggests that if direct sharing of data is not feasible, a meta-analysis of summary GWAS statistics could provide selected SNPs for custom panels to use in genomic selection programs. However, since this finding is based on a small cross-validation study, confirmation through a larger study is recommended.

Single- and multiple-breed genomic evaluations for conformation traits in Canadian Alpine and Saanen dairy goats.

Conformation traits are functional traits known to affect longevity, production efficiency, and profitability of dairy goats. However, genetic progress for these traits is expected to be slower than for milk production traits due to the limited number of herds participating in type classification programs, and often lower heritability estimates. Genomic selection substantially accelerates the rate of genetic progress in many species and industries, especially for lowly heritable, difficult, or expensive to measure traits. Therefore, the main objectives of this study were (1) to evaluate the potential benefits of the implementation of single-step genomic evaluations for conformation traits in Canadian Alpine and Saanen dairy goats, and (2) to investigate the effect of the use of single- and multiple-breed training populations. The phenotypes used in this study were linear conformation scores, on a 1-to-9 scale, for 8 traits (i.e., body capacity, dairy character, fore udder, feet and legs, general appearance, rear udder, medial suspensory ligament, and teats) of 5,158 Alpine and 2,342 Saanen does. Genotypes were available for 833 Alpine and 874 Saanen animals. Averaged across all traits, the use of multiple-breed analyses increased validation accuracy for Saanen, and reduced bias of genomically enhanced breeding values (GEBV) for both Alpine and Saanen compared with single-breed analyses. Little benefit was observed from the use of GEBV relative to pedigree-based EBV in terms of validation accuracy and bias, possibly due to limitations in the validation design, but substantial gains of 0.14 to 0.21 (32-50%) were observed in the theoretical accuracy of validation animals when averaged across traits for single- and multiple-breed analyses. Across the whole genotyped population, average gains in theoretical accuracy for GEBV compared with EBV across all traits ranged from 0.15 to 0.17 (32-37%) for Alpine and 0.17 to 0.19 (40-41%) for Saanen, depending on the model used. The largest gains were observed for does without classification records (0.19-0.22 or 50-55%) and bucks without daughter classification records (0.20-0.27 or 57-82%), which have the least information contributing to their traditional EBV. The use of multiple-breed rather than single-breed models was most beneficial for the Saanen breed, which had fewer phenotypic records available for the analyses. These results suggest that the implementation of genomic selection could increase the accuracy of breeding values for conformation traits in Canadian dairy goats.

Single-step genomic evaluation of milk production traits in Canadian Alpine and Saanen dairy goats.

Genomic evaluations are routine in most plant and livestock breeding programs but are used infrequently in dairy goat breeding schemes. In this context, the purpose of this study was to investigate the use of the single-step genomic BLUP method for predicting genomic breeding values for milk production traits (milk, protein, and fat yields; protein and fat percentages) in Canadian Alpine and Saanen dairy goats. There were 6,409 and 12,236 Alpine records and 3,434 and 5,008 Saanen records for each trait in first and later lactations, respectively, and a total of 1,707 genotyped animals (833 Alpine and 874 Saanen). Two validation approaches were used, forward validation (i.e., animals born after 2013 with an average estimated breeding value accuracy from the full data set ≥0.50) and forward cross-validation (i.e., subsets of all animals included in the forward validation were used in successive replications). The forward cross-validation approach resulted in similar validation accuracies (0.55 to 0.66 versus 0.54 to 0.61) and biases (-0.01 to -0.07 versus -0.03 to 0.11) to the forward validation when averaged across traits. Additionally, both single and multiple-breed analyses were compared, and similar average accuracies and biases were observed across traits. However, there was a small gain in accuracy from the use of multiple-breed models for the Saanen breed. A small gain in validation accuracy for genomically enhanced estimated breeding values (GEBV) relative to pedigree-based estimated breeding values (EBV) was observed across traits for the Alpine breed, but not for the Saanen breed, possibly due to limitations in the validation design, heritability of the traits evaluated, and size of the training populations. Trait-specific gains in theoretical accuracy of GEBV relative to EBV for the validation animals ranged from 17 to 31% in Alpine and 35 to 55% in Saanen, using the cross-validation approach. The GEBV predicted from the full data set were 12 to 16% more accurate than EBV for genotyped animals, but no gains were observed for nongenotyped animals. The largest gains were found for does without lactation records (35-41%) and bucks without daughter records (46-54%), and consequently, the implementation of genomic selection in the Canadian dairy goat population would be expected to increase selection accuracy for young breeding candidates. Overall, this study represents the first step toward implementation of genomic selection in Canadian dairy goat populations.

Reproductive tract size and position score: Estimation of genetic parameters for a novel fertility trait in dairy cows.

The dairy industry is moving toward selecting animals with better fertility to decrease the economic losses linked to reproductive issues. The reproductive tract size and position score (SPS) was recently developed in physiological studies as an indicator of pregnancy rate and the number of services to conception. Cows are scored as SPS 1, 2, or 3 based on the size of their reproductive tract and its position in the pelvis, as determined by transrectal palpation. The objective of this study was to estimate genetic parameters for SPS to assess its potential as a novel fertility trait. Phenotypes were collected at the University of British Columbia's research herd from 2017 to 2020, consisting of 3,247 within- and across-lactation SPS records from 490 Holstein cows. A univariate animal model was used to estimate the variance components for SPS. Both threshold and linear models were fit under a Bayesian approach and the results were compared using the Spearman rank correlation (r) between the estimated breeding values. The 2 models ranked the animals very similarly (r = 0.99), and the linear model was selected for further analysis. Genetic correlations with other currently evaluated traits were estimated using a bivariate animal model. The posterior means (± posterior standard deviation) for heritability and repeatability within- and across-lactation were 0.113 (± 0.013), 0.242 (± 0.012), and 0.134 (± 0.014), respectively. The SPS showed null correlations with production traits and favorable correlations with traditional fertility traits, varying from -0.730 (nonreturn rate) to 0.931 (number of services). Although preliminary, these results are encouraging because SPS seems to be more heritable than and strongly genetically correlated with number of services, nonreturn rate, and first service to conception, indicating potential for effective indirect selection response on these traits from SPS genetic selection. Therefore, further studies with larger data sets to validate these findings are warranted.

Predicting dry matter intake in Canadian Holstein dairy cattle using milk mid-infrared reflectance spectroscopy and other commonly available predictors via artificial neural networks.

Dry matter intake (DMI) is a fundamental component of the animal's feed efficiency, but measuring DMI of individual cows is expensive. Mid-infrared reflectance spectroscopy (MIRS) on milk samples could be an inexpensive alternative to predict DMI. The objectives of this study were (1) to assess if milk MIRS data could improve DMI predictions of Canadian Holstein cows using artificial neural networks (ANN); (2) to investigate the ability of different ANN architectures to predict unobserved DMI; and (3) to validate the robustness of developed prediction models. A total of 7,398 milk samples from 509 dairy cows distributed over Canada, Denmark, and the United States were analyzed. Data from Denmark and the United States were used to increase the training data size and variability to improve the generalization of the prediction models over the lactation. For each milk spectra record, the corresponding weekly average DMI (kg/d), test-day milk yield (MY, kg/d), fat yield (FY, g/d), and protein yield (PY, g/d), metabolic body weight (MBW), age at calving, year of calving, season of calving, days in milk, lactation number, country, and herd were available. The weekly average DMI was predicted with various ANN architectures using 7 predictor sets, which were created by different combinations MY, FY, PY, MBW, and MIRS data. All predictor sets also included age of calving and days in milk. In addition, the classification effects of season of calving, country, and lactation number were included in all models. The explored ANN architectures consisted of 3 training algorithms (Bayesian regularization, Levenberg-Marquardt, and scaled conjugate gradient), 2 types of activation functions (hyperbolic tangent and linear), and from 1 to 10 neurons in hidden layers). In addition, partial least squares regression was also applied to predict the DMI. Models were compared using cross-validation based on leaving out 10% of records (validation A) and leaving out 10% of cows (validation B). Superior fitting statistics of models comprising MIRS information compared with the models fitting milk, fat and protein yields suggest that other unknown milk components may help explain variation in weekly average DMI. For instance, using MY, FY, PY, and MBW as predictor variables produced a predictive accuracy (r) ranging from 0.510 to 0.652 across ANN models and validation sets. Using MIRS together with MY, FY, PY, and MBW as predictors resulted in improved fitting (r = 0.679-0.777). Including MIRS data improved the weekly average DMI prediction of Canadian Holstein cows, but it seems that MIRS predicts DMI mostly through its association with milk production traits and its utility to estimate a measure of feed efficiency that accounts for the level of production, such as residual feed intake, might be limited and needs further investigation. The better predictive ability of nonlinear ANN compared with linear ANN and partial least squares regression indicated possible nonlinear relationships between weekly average DMI and the predictor variables. In general, ANN using Bayesian regularization and scaled conjugate gradient training algorithms yielded slightly better weekly average DMI predictions compared with ANN using the Levenberg-Marquardt training algorithm.

Predicting methane emission in Canadian Holstein dairy cattle using milk mid-infrared reflectance spectroscopy and other commonly available predictors via artificial neural networks.

Interest in reducing eructed CH4 is growing, but measuring CH4 emissions is expensive and difficult in large populations. In this study, we investigated the effectiveness of milk mid-infrared spectroscopy (MIRS) data to predict CH4 emission in lactating Canadian Holstein cows. A total of 181 weekly average CH4 records from 158 Canadian cows and 217 records from 44 Danish cows were used. For each milk spectra record, the corresponding weekly average CH4 emission (g/d), test-day milk yield (MY, kg/d), fat yield (FY, g/d), and protein yield (PY, g/d) were available. The weekly average CH4 emission was predicted using various artificial neural networks (ANN), partial least squares regression, and different sets of predictors. The ANN architectures consisted of 3 training algorithms, 1 to 10 neurons with hyperbolic tangent activation function in the hidden layer, and 1 neuron with linear (purine) activation function in the hidden layer. Random cross-validation was used to compared the predictor sets: MY (set 1); FY (set 2); PY (set 3); MY and FY (set 4); MY and PY (set 5); MY, FY, and PY (set 6); MIRS (set 7); and MY, FY, PY, and MIRS (set 8). All predictor sets also included age at calving and days in milk, in addition to country, season of calving, and lactation number as categorical effects. Using only MY (set 1), the predictive accuracy (r) ranged from 0.245 to 0.457 and the root mean square error (RMSE) ranged from 87.28 to 99.39 across all prediction models and validation sets. Replacing MY with FY (set 2; r = 0.288-0.491; RMSE = 85.94-98.04) improved the predictive accuracy, but using PY (set 3; r = 0.260-0.468; RMSE = 86.95-98.47) did not. Adding FY to MY (set 4; r = 0.272-0.469; RMSE = 87.21-100.76) led to a negligible improvement compared with sets 1 and 3, but it slightly decreased accuracy compared with set 2. Adding PY to MY (set 5; r = 0.250-0.451; RMSE = 87.66-100.94) did not improve prediction ability. Combining MY, FY, and PY (set 6; r = 0.252-0.455; RMSE = 87.74-101.93) yielded accuracy slightly lower than sets 2 and 3. Using only MIRS data (set 7; r = 0.586-0.717; RMSE = 69.09-96.20) resulted in superior accuracy compared with all previous sets. Finally, the combination of MIRS data with MY, FY, and PY (set 8; r = 0.590-0.727; RMSE = 68.02-87.78) yielded similar accuracy to set 7. Overall, sets including the MIRS data yielded significantly better predictions than the other sets. To assess the predictive ability in a new unseen herd, a limited block cross-validation was performed using 20 cows in the same Canadian herd, which yielded r = 0.229 and RMSE = 154.44, which were clearly much worse than the average r = 0.704 and RMSE = 70.83 when predictions were made by random cross-validation. These results warrant further investigation when more data become available to allow for a more comprehensive block cross-validation before applying the calibrated models for large-scale prediction of CH4 emissions.

Accuracy of breeding values for production traits in turkeys (Meleagris gallopavo) using recursive models with or without genomics.

BACKGROUND: Knowledge about potential functional relationships among traits of interest offers a unique opportunity to understand causal mechanisms and to optimize breeding goals, management practices, and prediction accuracy. In this study, we inferred the phenotypic causal networks among five traits in a turkey population and assessed the effect of the use of such causal structures on the accuracy of predictions of breeding values. METHODS: Phenotypic data on feed conversion ratio, residual feed intake, body weight, breast meat yield, and walking score in addition to genotype data from a commercial breeding population were used. Causal links between the traits were detected using the inductive causation algorithm based on the joint distribution of genetic effects obtained from a standard Bayesian multiple trait model. Then, a structural equation model was implemented to infer the magnitude of causal structure coefficients among the phenotypes. Accuracies of predictions of breeding values derived using pedigree- and blending-based multiple trait models were compared to those obtained with the pedigree- and blending-based structural equation models. RESULTS: In contrast to the two unconditioned traits (i.e., feed conversion ratio and breast meat yield) in the causal structures, the three conditioned traits (i.e., residual feed intake, body weight, and walking score) showed noticeable changes in estimates of genetic and residual variances between the structural equation model and the multiple trait model. The analysis revealed interesting functional associations and indirect genetic effects. For example, the structural coefficient for the path from body weight to walking score indicated that a 1-unit genetic improvement in body weight is expected to result in a 0.27-unit decline in walking score. Both structural equation models outperformed their counterpart multiple trait models for the conditioned traits. Applying the causal structures led to an increase in accuracy of estimated breeding values of approximately 7, 6, and 20% for residual feed intake, body weight, and walking score, respectively, and different rankings of selection candidates for the conditioned traits. CONCLUSIONS: Our results suggest that structural equation models can improve genetic selection decisions and increase the prediction accuracy of breeding values of selection candidates. The identified causal relationships between the studied traits should be carefully considered in future turkey breeding programs.

Identification of unique ROH regions with unfavorable effects on production and fertility traits in Canadian Holsteins.

BACKGROUND: The advent of genomic information and the reduction in the cost of genotyping have led to the use of genomic information to estimate genomic inbreeding as an alternative to pedigree inbreeding. Using genomic measures, effects of genomic inbreeding on production and fertility traits have been observed. However, there have been limited studies on the specific genomic regions causing the observed negative association with the trait of interest. Our aim was to identify unique run of homozygosity (ROH) genotypes present within a given genomic window that display negative associations with production and fertility traits and to quantify the effects of these identified ROH genotypes. METHODS: In total, 50,575 genotypes based on a 50K single nucleotide polymorphism (SNP) array and 259,871 pedigree records were available. Of these 50,575 genotypes, 46,430 cows with phenotypic records for production and fertility traits and having a first calving date between 2008 and 2018 were available. Unique ROH genotypes identified using a sliding-window approach were fitted into an animal mixed model as fixed effects to determine their effect on production and fertility traits. RESULTS: In total, 133 and 34 unique ROH genotypes with unfavorable effects were identified for production and fertility traits, respectively, at a 1% genome-wise false discovery rate. Most of these ROH regions were located on bovine chromosomes 8, 13, 14 and 19 for both production and fertility traits. For production traits, the average of all the unfavorably identified unique ROH genotypes effects were estimated to decrease milk yield by 247.30 kg, fat yield by 11.46 kg and protein yield by 8.11 kg. Similarly, for fertility traits, an average 4.81-day extension in first service to conception, a 0.16 increase in number of services, and a - 0.07 incidence in 56-day non-return rate were observed. Furthermore, a ROH region located on bovine chromosome 19 was identified that, when homozygous, had a negative effect on production traits. Signatures of selection proximate to this region have implicated GH1 as a potential candidate gene, which encodes the growth hormone that binds the growth hormone receptor. This observed negative effect could be a consequence of unfavorable alleles in linkage disequilibrium with favorable alleles. CONCLUSIONS: ROH genotypes with unfavorable effects on production and fertility traits were identified within and across multiple traits on most chromosomes. These identified ROH genotypes could be included in mate selection programs to minimize their frequency in future generations.

Genetic analysis of egg production traits in turkeys (Meleagris gallopavo) using a single-step genomic random regression model.

BACKGROUND: Egg production traits are economically important in poultry breeding programs. Previous studies have shown that incorporating genomic data can increase the accuracy of genetic prediction of egg production. Our objective was to estimate the genetic and phenotypic parameters of such traits and compare the prediction accuracy of pedigree-based random regression best linear unbiased prediction (RR-PBLUP) and genomic single-step random regression BLUP (RR-ssGBLUP). Egg production was recorded on 7422 birds during 24 consecutive weeks from first egg laid. Hatch-week of birth by week of lay and week of lay by age at first egg were fitted as fixed effects and body weight as a covariate, while additive genetic and permanent environment effects were fitted as random effects, along with heterogeneous residual variances over 24 weeks of egg production. Predictions accuracies were compared based on two statistics: (1) the correlation between estimated breeding values and phenotypes divided by the square root of the trait heritability, and (2) the ratio of the variance of BLUP predictions of individual Mendelian sampling effects divided by one half of the estimate of the additive genetic variance. RESULTS: Heritability estimates along the production trajectory obtained with RR-PBLUP ranged from 0.09 to 0.22, with higher estimates for intermediate weeks. Estimates of phenotypic correlations between weekly egg production were lower than the corresponding genetic correlation estimates. Our results indicate that genetic correlations decreased over the laying period, with the highest estimate being between traits in later weeks and the lowest between early weeks and later ages. Prediction accuracies based on the correlation-based statistic ranged from 0.11 to 0.44 for RR-PBLUP and from 0.22 to 0.57 for RR-ssGBLUP using the correlation-based statistic. The ratios of the variances of BLUP predictions of Mendelian sampling effects and one half of the additive genetic variance ranged from 0.17 to 0.26 for RR-PBLUP and from 0.17 to 0.34 for RR-ssGBLUP. Although the improvement in accuracies from RR-ssGBLUP over those from RR-PBLUP was not uniform over time for either statistic, accuracies obtained with RR-ssGBLUP were generally equal to or higher than those with RR-PBLUP. CONCLUSIONS: Our findings show the potential advantage of incorporating genomic data in genetic evaluation of egg production traits using random regression models, which can contribute to the genetic improvement of egg production in turkey populations.

Genome-wide association study between copy number variants and hoof health traits in Holstein dairy cattle.

Genome-wide association studies based on SNP have been completed for multiple traits in dairy cattle; however, copy number variants (CNV) could add genomic information that has yet to be harnessed. The objectives of this study were to identify CNV in genotyped Holstein animals and assess their association with hoof health traits using deregressed estimated breeding values as pseudophenotypes. A total of 23,256 CNV comprising 1,645 genomic regions were identified in 5,845 animals. Fourteen genomic regions harboring structural variations, including 9 deletions and 5 duplications, were associated with at least 1 of the studied hoof health traits. This group of traits included digital dermatitis, interdigital dermatitis, heel horn erosion, sole ulcer, white line lesion, sole hemorrhage, and interdigital hyperplasia; no regions were associated with toe ulcer. Twenty candidate genes overlapped with the regions associated with these traits including SCART1, NRXN2, KIF26A, GPHN, and OR7A17. In this study, an effect on infectious hoof lesions could be attributed to the PRAME (Preferentially Expressed Antigen in Melanoma) gene. Almost all genes detected in association with noninfectious hoof lesions could be linked to known metabolic disorders. The knowledge obtained considering information of associated CNV to the traits of interest in this study could improve the accuracy of estimated breeding values. This may further increase the genetic gain for these traits in the Canadian Holstein population, thus reducing the involuntary animal losses due to lameness.

The value of incorporating carcass trait phenotypes in terminal sire selection indexes to improve carcass weight and quality of heavy lambs.

Genetic selection for carcass traits is paramount to maximize the profitability and long-term sustainability of any meat-producing livestock species. The main objectives of this research were to evaluate the efficiency of indicator traits for the genetic improvement of lamb carcass traits and to determine the value of including carcass traits into terminal sire selection indexes for the Canadian sheep industry. The carcass traits included hot carcass weight (HCW), fat depth at the GR site (FATGR) and average carcass conformation score (AVGCONF), and were measured on heavy lambs (slaughter age less than 365 days and HCW greater than 16.3 kg) in commercial abattoirs. Growth traits were found to be moderately efficient indicator traits for the genetic improvement of HCW but selection on ultrasound traits was necessary to substantially improve the carcass quality traits (FATGR and AVGCONF). Economic selection indexes were designed by adding various combinations of carcass traits into the Canadian Sheep Genetic Evaluation System terminal indexes. Records measured on individuals and progeny were assumed to be the sources of information for live animal and carcass traits, respectively. The changes in index accuracy, efficiency and expected correlated response were used to assess the value of their inclusion. HCW was found to have a large economic value, and its inclusion into terminal selection indexes was expected to substantially increase their accuracy (0.08-0.12 points) and efficiency (20%-30%). However, further including FATGR (measured 110 mm from the carcass midline over the 12th rib) and AVGCONF had little impact on the accuracy (≤0.03) and efficiency (1%-7%) of the proposed indexes. Thus, the inclusion of carcass traits into the existing terminal selection indexes could be beneficial for the genetic improvement of HCW, but further research is needed to determine optimal methods of increasing carcass fatness and muscularity.

Effect of recent and ancient inbreeding on production and fertility traits in Canadian Holsteins.

BACKGROUND: Phenotypic performances of livestock animals decline with increasing levels of inbreeding, however, the noticeable decline known as inbreeding depression, may not be due only to the total level of inbreeding, but rather could be distinctly associated with more recent or more ancient inbreeding. Therefore, splitting inbreeding into different age classes could help in assessing detrimental effects of different ages of inbreeding. Hence, this study sought to investigate the effect of recent and ancient inbreeding on production and fertility traits in Canadian Holstein cattle with both pedigree and genomic records. Furthermore, inbreeding coefficients were estimated using traditional pedigree measure (FPED) and genomic measures using segment based (FROH) and marker-by-marker (FGRM) based approaches. RESULTS: Inbreeding depression was found for all production and most fertility traits, for example, every 1% increase in FPED, FROH and FGRM was observed to cause a - 44.71, - 40.48 and - 48.72 kg reduction in 305-day milk yield (MY), respectively. Similarly, an extension in first service to conception (FSTC) of 0.29, 0.24 and 0.31 day in heifers was found for every 1% increase in FPED, FROH and FGRM, respectively. Fertility traits that did not show significant depression were observed to move in an unfavorable direction over time. Splitting both pedigree and genomic inbreeding into age classes resulted in recent age classes showing more detrimental inbreeding effects, while more distant age classes caused more favorable effects. For example, a - 1.56 kg loss in 305-day protein yield (PY) was observed for every 1% increase in the most recent pedigree age class, whereas a 1.33 kg gain was found per 1% increase in the most distant pedigree age class. CONCLUSIONS: Inbreeding depression was observed for production and fertility traits. In general, recent inbreeding had unfavorable effects, while ancestral inbreeding had favorable effects. Given that more negative effects were estimated from recent inbreeding when compared to ancient inbreeding suggests that recent inbreeding should be the primary focus of selection programs. Also, further work to identify specific recent homozygous regions negatively associated with phenotypic traits could be investigated.

Effect of genomic selection on rate of inbreeding and coancestry and effective population size of Holstein and Jersey cattle populations.

Genetic diversity in livestock populations is a significant contributor to the sustainability of animal production. Also, genetic diversity allows animal production to become more responsive to environmental changes and market demands. The loss of genetic diversity can result in a plateau in production and may also result in loss of fitness or viability in animal production. In this study, we investigated the rate of inbreeding (ΔF), rate of coancestry (Δf), and effective population size (Ne) as important quantitative indicators of genetic diversity and evaluated the effect of the recent implementation of genomic selection on the loss of genetic diversity in North American Holstein and Jersey dairy cattle. To estimate the rate of inbreeding and coancestry, inbreeding and coancestry coefficients were calculated using the traditional pedigree method and genomic methods estimated from segment- and marker-based approaches. Furthermore, we estimated Ne from the rate of inbreeding and coancestry and extent of linkage disequilibrium. A total of 205,755 and 89,238 pedigreed and genotyped animals born between 1990 and 2018 inclusively were available for Holsteins and Jerseys, respectively. The estimated average pedigree inbreeding coefficients were 7.74 and 7.20% for Holsteins and Jerseys, respectively. The corresponding values for the segment and marker-by-marker genomic inbreeding coefficients were 13.61, 15.64, and 31.40% for Holsteins and 21.16, 22.54, and 42.62% for Jerseys, respectively. The average coancestry coefficients were 8.33 and 15.84% for Holsteins and 9.23 and 23.46% for Jerseys with pedigree and genomic measures, respectively. Generation interval for the whole 29-yr time period averaged approximately 5 yr for all selection pathways combined. The ΔF per generation based on pedigree, segment, and marker-by-marker genomic measures for the entire 29-yr period was estimated to be 0.75, 1.10, 1.16, and 1.02% for Holstein animals and 0.67, 0.62, 0.63, and 0.59% for Jersey animals, respectively. The Δf was estimated to be 0.98 and 0.98% for Holsteins and 0.73 and 0.78% for Jerseys with pedigree and genomic measures, respectively. These ΔF and Δf translated to an Ne that ranged from 43 to 66 animals for Holsteins and 64 to 85 animals for Jerseys. In addition, the Ne based on linkage disequilibrium was 58 and 120 for Holsteins and Jerseys, respectively. The 10-yr period that involved the application of genomic selection resulted in an increased ΔF per generation with ranges from 1.19 to 2.06% for pedigree and genomic measures in Holsteins. Given the rate at which inbreeding is increasing after the implementation of genomic selection, there is a need to implement measures and means for controlling the rate of inbreeding per year, which will help to manage and maintain farm animal genetic resources.

Estimation of genetic parameters for mid-infrared-predicted lactoferrin and milk fat globule size in Holstein cattle.

Lactoferrin (LF) and milk fat globule (MFG) are 2 biologically active components of milk with great economical and nutritional value in the dairy industry. The objectives of this study were to estimate (1) the heritability of mid-infrared (MIR)-predicted LF and MFG size (MFGS) and (2) the genetic correlations between predicted LF and MFGS with milk, fat, and protein yields, fat and protein percentages, and somatic cell score in first-parity Canadian Holstein cattle. A total of 109,029 test-day records from 22,432 cows and 1,572 farms for MIR-predicted LF and 109,212 test-day records from 22,424 cows and 1,559 farms for MIR-predicted MFGS were used in the analyses. Four separate 5-trait random regression test-day models were used. The models included days in milk, herd test date, and a polynomial regression on DIM nested in age-season of calving classes as fixed effects, random polynomial regressions on DIM nested in herd-year of calving, animal additive genetic and permanent environment classes, and a residual effect. Regression curves were modeled using orthogonal Legendre polynomials of order 4 for the fixed age-season of calving effect and of order 5 for the random effects. Moderate overall heritability estimates of 0.34 and 0.46 were estimated for the MIR-predicted LF and MIR-predicted MFGS, respectively. These heritability estimates were similar to the ones estimated for the direct measure of MFGS in a previous study. The genetic correlations between predicted MFGS and fat percentage (0.53) and between predicted LF and protein percentage (0.41) were both moderate and positive. Predicted LF and somatic cell score showed a weaker correlation (0.06) compared with other studies. The moderate genetic correlation between MIR-predicted MFGS and fat percentage and between MIR-predicted LF and protein percentage suggests that MIR predictions of MFGS and LF are not simply a function of the amount of fat and protein percentage, respectively, in the milk (i.e., the prediction equations are not simply predicting fat or protein percentages). Thus, these MIR-predicted values may provide additional information for selecting for fine milk components in Holstein cattle.

Estimation of additive and non-additive genetic effects for fertility and reproduction traits in North American Holstein cattle using genomic information.

Non-additive genetic effects are usually ignored in animal breeding programs due to data structure (e.g., incomplete pedigree), computational limitations and over-parameterization of the models. However, non-additive genetic effects may play an important role in the expression of complex traits in livestock species, such as fertility and reproduction traits. In this study, components of genetic variance for additive and non-additive genetic effects were estimated for a variety of fertility and reproduction traits in Holstein cattle using pedigree and genomic relationship matrices. Four linear models were used: (a) an additive genetic model; (b) a model including both additive and epistatic (additive by additive) genetic effects; (c) a model including both additive and dominance effects; and (d) a full model including additive, epistatic and dominance genetic effects. Nine fertility and reproduction traits were analysed, and models were run separately for heifers (N = 5,825) and cows (N = 6,090). For some traits, a larger proportion of phenotypic variance was explained by non-additive genetic effects compared with additive effects, indicating that epistasis, dominance or a combination thereof is of great importance. Epistatic genetic effects contributed more to the total phenotypic variance than dominance genetic effects. Although these models varied considerably in the partitioning of the components of genetic variance, the models including a non-additive genetic effect did not show a clear advantage over the additive model based on the Akaike information criterion. The partitioning of variance components resulted in a re-ranking of cows based solely on the cows' additive genetic effects between models, indicating that adjusting for non-additive genetic effects could affect selection decisions made in dairy cattle breeding programs. These results suggest that non-additive genetic effects play an important role in some fertility and reproduction traits in Holstein cattle.