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Abstract Lethal alleles are mutations in the genome that cause embryonic losses in affected homozygous embryos and, therefore, can negatively influence reproduction rates in commercial populations. Thus, this study aimed to identify genomic regions containing potential lethal haplotypes in Nellore breed; identify candidate genes located within these regions; and investigate the reproductive performance of heterozygous carriers of lethal haplotypes in Nellore cattle. Forty-five genomic regions harboring putative lethal haplotypes were identified, which overlap with 360 genes. Gene ontology analyses of these genes revealed biological processes associated with the development of sexual traits in males and females, key functions of the immune system, energy homeostasis, and embryonic development. The gene networks were involved in metabolic pathways including ovarian steroidogenesis, oocyte meiosis, and insulin secretion. Matings between carrier dam and carrier sire led to a reduction of up to -203.46% in pregnancy success probability, an increase of 275.15% in probability of pregnancy loss, 295.03% for stillbirth occurrence, and 301.40% for pre-weaning mortality when compared to non-carrier dam and sire matings. The results highlight the importance of identifying animals that are carriers of lethal haplotypes to avoid the propagation of these haplotypes in the population.

ABSTRACT: Understanding and assessing dairy cattle behavior is critical for developing sustainable breeding programs and management practices. The behavior of individual animals can provide valuable information on their health and welfare status, improve reproductive management, and predict efficiency traits such as feed efficiency and milking efficiency. Routine genetic evaluations of animal behavior traits can contribute to optimizing breeding and management strategies for dairy cattle but require the identification of traits that capture the most important biological processes involved in behavioral responses. These traits should be heritable, repeatable, and measured in noninvasive and cost-effective ways in many individuals from the breeding populations or related reference populations. Although behavior traits are heritable in dairy cattle populations, they are highly polygenic, with no known major genes influencing their phenotypic expression. Genetically selecting dairy cattle based on their behavior can be advantageous because of their relationship with other key traits such as animal health, welfare, and productive efficiency, as well as animal and handler safety. Trait definition and longitudinal data collection are still key challenges for breeding for behavioral responses in dairy cattle. However, the more recent developments and adoption of precision technologies in dairy farms provide avenues for more objective phenotyping and genetic selection of behavior traits. Furthermore, there is still a need to standardize phenotyping protocols for existing traits and develop guidelines for recording novel behavioral traits and integrating multiple data sources. This review gives an overview of the most common indicators of dairy cattle behavior, summarizes the main methods used for analyzing animal behavior in commercial settings, describes the genetic and genomic background of previously defined behavioral traits, and discusses strategies for breeding and improving behavior traits coupled with future opportunities for genetic selection for improved behavioral responses.

ABSTRACT: Accurate genomic predictions of breeding values for traits included in the selection indexes are paramount for optimizing genetic progress in populations under selection. The size of the reference populations is a major factor influencing the accuracy of genomic predictions, which is even more important for lowly heritable traits, such as fertility and reproduction indicators. Combining data from different geographical regions or countries can be beneficial for genomic prediction of these lowly heritable traits. Therefore, the objectives of this study were to (1) evaluate the benefits of performing across-regional genomic evaluations for reproduction traits in Chinese Holstein cattle and (2) assess the feasibility of validating genomic predictions across environments based on reaction norm models (RNM) and the linear regression (LR) method after accounting for genotype-by-environment interactions. Phenotypic records from 194,574 cows collected across 47 farms located in 2 regions of China were used for this study. The reference and validation populations were defined based on birth year for applying the LR validation method. The traits evaluated included: interval from first to last insemination (IFL), conception rate at the first insemination (CR_f), and number of inseminations (NS) recorded in heifers and first-parity cows. The results indicated that combining data from different regions resulted in greater genomic prediction accuracies compared with using data from single regions, with increases ranging from 2.74% to 93.81%. This improvement was particularly notable for the region with the least amount of available data, where the increases ranged from 26.49% to 93.81%. Furthermore, the predictive abilities could be validated for all studied traits based on the LR method across different environments when fitting RNM. The prediction accuracies and bias of genomic breeding values based on RNM were better than regular single-trait animal models in extreme climatic conditions for IFL and NS, whereas limited increases in predictive abilities were observed for CR_f. Across-regional genomic prediction by RNM can account for genotype-by-environment interactions, potentially increase the accuracy of genomic prediction, and predict the performances of individuals in the environments with limited phenotypic data available.

Abstract Background The profitability of the beef industry is directly influenced by the fertility rate and reproductive performance of both males and females, which can be improved through selective breeding. When performing genomic analyses, genetic markers located on the X chromosome have been commonly ignored despite the X chromosome being one of the largest chromosomes in the cattle genome. Therefore, the primary objectives of this study were to: (1) estimate variance components and genetic parameters for eighteen male and five female fertility and reproductive traits in Nellore cattle including X chromosome markers in the analyses; and (2) perform genome-wide association studies and functional genomic analyses to better understand the genetic background of male and female fertility and reproductive performance traits in Nellore cattle. Results The percentage of the total direct heritability (h2 total) explained by the X chromosome markers (h2 x) ranged from 3 to 32% (average: 16.4%) and from 9 to 67% (average: 25.61%) for female reproductive performance and male fertility traits, respectively. Among the traits related to breeding soundness evaluation, the overall bull and semen evaluation and semen quality traits accounted for the highest proportion of h2 x relative to h2 total with an average of 39.5% and 38.75%, respectively. The total number of significant genomic markers per trait ranged from 7 (seminal vesicle width) to 43 (total major defects). The number of significant markers located on the X chromosome ranged from zero to five. A total of 683, 252, 694, 382, 61, and 77 genes overlapped with the genomic regions identified for traits related to female reproductive performance, semen quality, semen morphology, semen defects, overall bulls’ fertility evaluation, and overall semen evaluation traits, respectively. The key candidate genes located on the X chromosome are PRR32, STK26, TMSB4X, TLR7, PRPS2, SMS, SMARCA1, UTP14A, and BCORL1. The main gene ontology terms identified are “Oocyte Meiosis”, “Progesterone Mediated Oocyte Maturation”, “Thermogenesis”, “Sperm Flagellum”, and “Innate Immune Response”. Conclusions Our findings indicate the key role of genes located on the X chromosome on the phenotypic variability of male and female reproduction and fertility traits in Nellore cattle. Breeding programs aiming to improve these traits should consider adding the information from X chromosome markers in their genomic analyses.

Abstract Background Reproductive efficiency is crucial for the long-term economic sustainability of beef cattle production. Pregnancy loss and stillbirth are complex reproductive traits that do not yet have their genomic background fully understood, especially in zebu breeds (Bos taurus indicus). Hence, this study aimed to perform a genome-wide association study (GWAS) and functional annotation for conception success (CS), pregnancy loss (PL), stillbirth (SB), and pre-weaning calf mortality (PWM) in Nellore cattle. In this study, 3,728 cows with 17,094 reproductive records and 11,785 calves were evaluated. A total of 3,351 genotyped animals and 383,739 SNP markers were considered for GWAS analyses. SNP effects were estimated using the weighted single-step GWAS (WssGWAS), which considered two iterations. The top ten genomic windows with the highest contribution to the additive genetic variance of the traits were selected for gene annotation. Candidate genes were then analyzed for Gene Ontology terms (GO) and metabolic pathways. Results The top ten genomic windows that explained the largest proportion of the direct additive genetic variance ( $$\:{{\sigma\:}}_{\text{a}}^{2}$$ ) for CS, PL, SB, and PWM accounted for 17.03% (overlapping with 79 genes), 16.76% (57 genes), 11.71% (73 genes), and 12.03% (65 genes) of the total $$\:{{\sigma\:}}_{\text{a}}^{2}$$ , respectively. For CS, significant GO terms included Somitogenesis (GO:0001756), Somite Development (GO:0061053), and Chromosome Segregation (GO:0007059). Considering PL, the processes annotated were the Regulation of Hormone Secretion (GO:0046883), and Hormone Transport (GO:0009914), along with the Glucagon Signaling Pathway (bta04922). Embryonic Development (GO:0045995), and Cerebellum Development (GO:0021549) were the main biological processes found in the gene enrichment analysis for SB. For PWM, the Regulation of Glucose metabolic processes (GO:0010906), Zinc Ion Homeostasis (GO:0055069), Lactation (GO:0007595), and Regulation of Insulin Secretion (GO:0050796) were the most significant GO terms observed. Conclusions These findings provide valuable information on genomic regions, candidate genes, biological processes, and metabolic pathways that may significantly influence the expression of complex reproductive traits in Nellore cattle, offering potential contributions to breeding strategies and future genomic selection strategies.

ABSTRACT: The implementation of automated milk feeders (AMF) on precision dairy farms has enabled efficient management of large numbers of group-housed replacement calves with reduced labor requirements and improved calf welfare. In this study, we investigated the feasibility of deriving calf resilience indicators based on variability in milk consumption using data from 10,076 North American Holstein calves collected between 2015 and 2021. We modeled and evaluated deviations in observed and predicted daily milk consumption trajectories as indicators of resilience to environmental perturbations. We also analyzed average milk intake and the number of treatments for bovine respiratory disease (BRD) and their genetic correlations with the derived resilience parameters. Milk consumption was recorded using the Förster-Technik AMF. Deviations in cumulative milk intake were modeled using various methods, including quantile regression and the Gompertz function. Ten resilience indicators were derived to quantify the degree and duration of perturbations, including amplitude, perturbation time, recovery time, and deviation velocities. After data editing, genomic data from 9,273 calves and pedigree information from 10,076 calves with 321,388 phenotypic records were used to estimate genetic parameters for 12 traits, including 10 calf resilience indicators as well as average milk intake and treatments for BRD. Substantial phenotypic variability was observed for all calf resilience indicators derived and genetic parameters related to these novel resilience indicators were estimated. The heritability estimates for the resilience traits are as follows: amplitude of the deviation (in L) 0.047 (0.032, 0.064; HPD interval), perturbation time of deviation (in d) 0.011 (0.0056, 0.016), recovery time of the deviation (in d) 0.025 (0.016, 0.035), maximum velocity of perturbation (L/d) 0.039 (0.024, 0.053), average velocity of perturbation (L/d) 0.038 (0.022, 0.050), area between the curves (L × d) 0.039 (0.027, 0.054), recovery ratio 0.053 (0.036, 0.072), deviation variance 0.049 (0.32, 0.068), log-deviation variance 0.027 (0.016, 0.044), deviation autocorrelation 0.010 (0.0042, 0.017) and number of deviation occurrences 0.023 (0.0094, 0.036). Some of the highlighted genetic correlations observed with average milk consumption include amplitude: 0.569 (0.474, 0.666), perturbation time: −0.534 (−0.73, −0.342), and average velocity: 0.554 (0.432, 0.672). Similarly, the genetic correlations between the number of times treated for BRD with perturbation time was 0.494 (0.251, 0.723), −0.294 (−0.52, −0.095) with number of deviations, and 0.348 (0.131, 0.578) with deviation autocorrelation. This study highlights the genetic influence on various resilience traits in calves, including amplitude, perturbation time, recovery time, and velocity measures of the perturbation. Our findings suggest the need for prioritizing genetic selection based on traits such as recovery time, which exhibits higher heritability and a moderate genetic correlation with the number of times a calf is treated for BRD. The combination of AMF data, mathematical modeling, and genomic evaluation provides a comprehensive framework for assessing and breeding more resilient dairy calves in the face of environmental and health challenges.

ABSTRACT: Traits related to calving have a significant impact on animal welfare and farm profitability in dairy production systems. Identifying genomic regions associated with calving traits could contribute to refining dairy cattle breeding programs and management practices in the dairy industry. Therefore, the primary objectives of this study were to estimate genetic parameters and perform GWAS and functional enrichment analyses for stillbirth, gestation length, calf size, and calving ease traits in North American Jersey cattle. A total of 40,503 animals with phenotypic records and 5,398 animals genotyped for 45,101 SNPs were included in the analyses. Genetic parameters were estimated based on animal models and Bayesian methods. The effects of SNPs were estimated using the single-step GBLUP method. The heritability (SE) estimates ranged from 0.01 (0.01) for stillbirths in heifers to 0.11 (0.01) for gestation length in cows. The genetic correlations ranged from −0.58 (0.11) between calving ease and stillbirths in heifers to 0.44 (0.14) between calving ease and calf size in cows. Calving ease showed the highest genetic correlation between heifers and cows, 0.8 (0.22) respectively. The candidate genes identified, including MTHFR, SERPINA5, IGFBP3, and ZRANB1, are involved in key biological processes and metabolic pathways related to the studied traits. Reducing environmental variation and identifying novel indicators of reproduction traits in the Jersey breed are needed given the low heritability estimates for most traits evaluated in this study. In conclusion, this study provides a characterization of the genetic background of calving-related traits in Jersey cattle. The estimates obtained can be used to improve or build selection indexes in Jersey cattle breeding programs in North America.

Abstract Milk mid‐infrared (MIR) spectra have been shown to provide valuable information on a wide range of traits to be used in dairy cattle breeding programs. Selecting the most informative variables from complex data can improve the prediction accuracy and model robustness and, consequently, the interpretability of MIR spectra. Thus, we aimed to investigate the prediction performance of feature selection methods based on MIR spectra data, using the milk fatty acid (FA) profile as an example to illustrate the evaluated procedure. Data of MIR spectra, milk test‐day records, and reference FA concentrations of 155 first‐parity Holstein cows were used in the analyses. Four models comprising different explanatory variables and three feature selection methods were evaluated. The results indicated that competitive adaptive reweighted sampling (CARS) method can effectively select the most informative variables from the MIR spectra, resulting in higher prediction accuracies than other variable selection approaches. The model including selected MIR spectra and cow information variables yielded the best FA profile predictions based on partial least square regression. C8:0, C10:0, C14:1, C17:0 isomers, C18:1, C18:1 isomer, medium‐chain FA, unsaturation FA, monounsaturated FA, and polyunsaturated FA presented accuracies based on the determination coefficient ranging from 0.66 to 0.85 in internal validation and from 0.65 to 0.84 in external validation. The most related wavenumbers to 35 FAs were found within 1003 to 1145 cm−1. Generally, using CARS and cow information improved predictions of FAs based on MIR spectra in Chinese Holstein dairy cows. Additional validation studies should be conducted as larger datasets become available.

Identifying expression Quantitative Trait Loci (eQTL) and functional candidate variants associated with blood biochemical parameters can contribute to the understanding of genetic mechanisms underlying phenotypic variation in complex traits in pigs. We identified eQTLs through gene expression levels in muscle and liver tissues of Large White pigs. The identified eQTL were then tested for association with biochemical parameters, cytokine profiles, and performance traits of pigs. A total of 41,759 SNPs and 15,093 and 15,516 expression gene levels from muscle and liver tissues, respectively, enabled the identification of 1,199 eQTL. The eQTL identified related the SNP rs345667860 as significantly associated with interleukin-6 and interleukin-18 in liver tissue, while the rs695637860 SNP was associated with aspartate aminotransferase and interleukin-6, and rs337362164 was associated with high-density lipoprotein of the blood serum. In conclusion, the identification of three eQTL significantly associated with aspartate aminotransferase and cytokine levels in both serum and liver tissues suggests a potential role for these variants in modulating immune function and overall health in production pigs. Further research is needed to validate these findings and explore their potential for improving pig health and productivity.

Epigenetics is an important source of variation in complex traits that is not due to changes in DNA sequences, and is dependent on the environment the individuals are exposed to. Therefore, we aimed to estimate transgenerational epigenetic heritability, percentage of resetting epigenetic marks, genetic parameters, and predicting breeding values using genetic and epigenetic models for growth, body composition, and reproductive traits in Landrace pigs using routinely recorded datasets. Birth and weaning weight, backfat thickness, total number of piglets born, and number of piglets born alive (BW, WW, BF, TNB, and NBA, respectively) were investigated. Models including epigenetic effects had a similar or better fit than solely genetic models. Including genomic information in epigenetic models resulted in large changes in the variance component estimates. Transgenerational epigenetic heritability estimates ranged between 0.042 (NBA) to 0.336 (BF). The reset coefficient estimates for epigenetic marks were between 80% and 90%. Heritability estimates for the direct additive and maternal genetic effects ranged between 0.040 (BW) to 0.502 (BF) and 0.034 (BF) to 0.134 (BW), respectively. Repeatability of the reproductive traits ranged between 0.098 (NBA) to 0.148 (TNB). Prediction accuracies, bias, and dispersion of breeding values ranged between 0.199 (BW) to 0.443 (BF), −0.080 (WW) to 0.034 (NBA), and −0.134 (WW) to 0.131 (TNB), respectively, with no substantial differences between genetic and epigenetic models. Transgenerational epigenetic heritability estimates are moderate for growth and body composition and low for reproductive traits in North American Landrace pigs. Fitting epigenetic effects in genetic models did not impact the prediction of breeding values.

ABSTRACT: Udder conformation is directly related to milk yield, cow health, workability, and welfare. Automatic milking systems (AMS, also known as milking robots) have become popular worldwide, and the number of dairy farms adopting these systems has increased considerably over the past years. In each milking visit, AMS record the location of the 4 teats as Cartesian coordinates in an xyz plan, which can then be used to derive udder conformation traits. Because AMS generate a large amount of data for individual cows per milking visit, they can contribute to an accurate assessment of important traits such as udder conformation without the addition of human classifier errors (in subjective scoring systems). Therefore, the primary objectives of this study were to estimate genomic-based genetic parameters for udder conformation traits derived from AMS records in North American Holstein cattle and to assess the genetic correlation between the derived traits for evaluating the feasibility of multitrait genomic selection for breeding cows that are more suitable for milking in AMS. The Cartesian teat coordinates measured during each milking visit were collected by 36 milking robots in 4,480 Holstein cows from 2017 to 2021, resulting in 5,317,488 records. A total of 4,118 of these Holstein cows were also genotyped for 57,600 SNPs. Five udder conformation traits were derived: udder balance (UB, mm), udder depth (UD, mm), front teat distance (FTD, mm), rear teat distance (RTD, mm), and distance front–rear (DFR, mm). In addition, 2 traits directly related to cow productivity in the system were added to the study: daily milk yield (DY) and milk electroconductivity (EC; as an indicator of mastitis). Variance components and genetic parameters for UB, UD, FTD, RTD, DFR, DY, and EC were estimated based on repeatability animal models. The estimates of heritability (± SE) for UB, UD, FTD, RTD, DFR, DY, and EC were 0.41 ± 0.02, 0.79 ± 0.01, 0.53 ± 0.02, 0.40 ± 0.02, 0.65 ± 0.02, 0.20 ± 0.02, and 0.46 ± 0.02, respectively. The repeatability estimates (± SE) for UB, UD, FTD, RTD, and DFR were 0.82 ± 0.01, 0.93 ± 0.01, 0.87 ± 0.01, 0.83 ± 0.01, and 0.88 ± 0.01, respectively. The strongest genetic correlations were observed between FTD and RTD (0.54 ± 0.03), UD and DFR (−0.47 ± 0.03), DFR and FTD (0.32 ± 0.03), and UD and FTD (−0.31 ± 0.03). These results suggest that udder conformation traits derived from Cartesian coordinates from AMS are moderately to highly heritable. Furthermore, the moderate genetic correlations between these traits should be considered when developing selection subindexes. The most relevant genetic correlations between traits related to cow milk productivity and udder conformation traits were between UD and EC (−0.25 ± 0.03) and between DFR and DY (0.30 ± 0.04), in which both genetic correlations are favorable. These findings will contribute to the design of genomic selection schemes for improving udder conformation in North American Holstein cattle, especially in precision dairy farms.

ABSTRACT: As the stress-inducible isoform of the heat-shock protein 90 (HSP90), the HSP90AA1 gene encodes HSP90α and plays an important role in heat stress (HS) response. Therefore, this study aimed to investigate the role of the HSP90AA1 gene in cellular responses during HS and to identify functional SNPs associated with thermotolerance in Holstein cattle. For the in vitro validation experiment of acute HS, cells from the Madin-Darby bovine kidney cell line were exposed to 42°C for 1 h, and various parameters were assessed, including cell apoptosis, cell autophagy, and the cellular functions of HSP90α by using its inhibitor 17-allylamino-17-demethoxygeldanamycin (17-AAG). Furthermore, the polymorphisms identified in the HSP90AA1 gene and their functions related to HS were validated in vitro. Acute HS exposure induced cell apoptosis, cell autophagy, and upregulated expression of the HSP90AA1 gene. Inhibition of HSP90α by 17-AAG treatment had a significant effect on the expression of the HSP90α protein and increased cell apoptosis. However, autophagy decreased in comparison to the control treatment when cells were exposed to 42°C for 1 h. Five SNPs identified in the HSP90AA1 gene were significantly associated with rectal temperature and respiration score in Holstein cows, in which the rs109256957 SNP is located in the 3′ untranslated region (3′ UTR). Furthermore, we demonstrated that the 3′ UTR of HSP90AA1 is a direct target of bta-miR-1224 by cell transfection with exogenous microRNA (miRNA) mimic and inhibitor. The luciferase assays revealed that the SNP rs109256957 affects the regulation of bta-miR-1224 binding activity and alters the expression of the HSP90AA1 gene. Heat stress–induced HSP90AA1 expression maintains cell survival by inhibiting cell apoptosis and increasing cell autophagy. The rs109256957 located in the 3′ UTR region is a functional variation and it affects the HSP90AA1 expression by altering its binding activity with bta-miR-1224, thereby associating with the physiological parameters of Holstein cows.

ABSTRACT: Identifying genome-enabled methods that provide more accurate genomic prediction is crucial when evaluating complex traits such as dairy cow behavior. In this study, we aimed to compare the predictive performance of traditional genomic prediction methods and deep learning algorithms for genomic prediction of milking refusals (MREF) and milking failures (MFAIL) in North American Holstein cows measured by automatic milking systems (milking robots). A total of 1,993,509 daily records from 4,511 genotyped Holstein cows were collected by 36 milking robot stations. After quality control, 57,600 SNPs were available for the analyses. Four genomic prediction methods were considered: Bayesian least absolute shrinkage and selection operator (LASSO), multiple layer perceptron (MLP), convolutional neural network (CNN), and GBLUP. We implemented the first 3 methods using the Keras and TensorFlow libraries in Python (v.3.9) but the GBLUP method was implemented using the BLUPF90+ family programs. The accuracy of genomic prediction (mean square error) for MREF and MFAIL was 0.34 (0.08) and 0.27 (0.08) based on LASSO, 0.36 (0.09) and 0.32 (0.09) for MLP, 0.37 (0.08) and 0.30 (0.09) for CNN, and 0.35 (0.09) and 0.31(0.09) based on GBLUP, respectively. Additionally, we observed a lower reranking of top selected individuals based on the MLP versus CNN methods compared with the other approaches for both MREF and MFAIL. Although the deep learning methods showed slightly higher accuracies than GBLUP, the results may not be sufficient to justify their use over traditional methods due to their higher computational demand and the difficulty of performing genomic prediction for nongenotyped individuals using deep learning procedures. Overall, this study provides insights into the potential feasibility of using deep learning methods to enhance genomic prediction accuracy for behavioral traits in livestock. Further research is needed to determine their practical applicability to large dairy cattle breeding programs.

ABSTRACT: Hematological parameters refer to the assessment of changes in the number and distribution of blood cells, including leukocytes (LES), erythrocytes (ERS), and platelets (PLS), which are essential for the early diagnosis of hematological system disorders and other systemic diseases in livestock. In this context, the primary objectives of this study were to investigate the genomic background of 19 hematological parameters in Holstein cattle, focusing on LES, ERS, and PLS blood components. Genetic and phenotypic (co)variances of hematological parameters were calculated based on the average information restricted maximum likelihood method and 1,610 genotyped individuals and 5,499 hematological parameter records from 4,543 cows. Furthermore, we assessed the genetic relationship between these hematological parameters and other economically important traits in dairy cattle breeding programs. We also carried out genome-wide association studies and candidate gene analyses. Blood samples from 21 primiparous cows were used to identify candidate genes further through RNA sequencing (RNA-seq) analyses. Hematological parameters generally exhibited low-to-moderate heritabilities ranging from 0.01 to 0.29, with genetic correlations between them ranging from −0.88 ± 0.09 (between mononuclear cell ratio and lymphocyte cell ratio) to 0.99 ± 0.01 (between white blood cell count and granulocyte cell count). Furthermore, low-to-moderate approximate genetic correlations between hematological parameters with one longevity, 4 fertility, and 5 health traits were observed. One hundred ninety-nine significant SNP located primarily on the Bos taurus autosomes (BTA) BTA4, BTA6, and BTA8 were associated with 16 hematological parameters. Based on the RNA-seq analyses, 6,687 genes were significantly downregulated and 4,119 genes were upregulated when comparing 2 groups of cows with high and low phenotypic values. By integrating genome-wide association studies (GWAS), RNA-seq, and previously published results, the main candidate genes associated with hematological parameters in Holstein cattle were ACRBP, ADAMTS3, CANT1, CCM2L, CNN3, CPLANE1, GPAT3, GRIP2, PLAGL2, RTL6, SOX4, WDFY3, and ZNF614. Hematological parameters are heritable and moderately to highly genetically correlated among themselves. The large number of candidate genes identified based on GWAS and RNA-seq indicate the polygenic nature and complex genetic determinism of hematological parameters in Holstein cattle.

Abstract Background A heterozygous-enriched region (HER) is a genomic region with high variability generated by factors such as balancing selection, introgression, and admixture processes. In this study, we evaluated the genomic background of HERs and the impact of different parameters (i.e., minimum number of SNPs in a HER, maximum distance between two consecutive SNPs, minimum length of a HER, maximum number of homozygous allowed in a HER) and scenarios [i.e., different SNP panel densities and whole-genome sequence (WGS)] on the detection of HERs. We also compared HERs characterized in Holstein cattle with those identified in Angus, Jersey, and Norwegian Red cattle using WGS data. Results The parameters used for the identification of HERs significantly impact their detection. The maximum distance between two consecutive SNPs did not impact HERs detection as the same average of HERs (269.31 ± 787.00) was observed across scenarios. However, the minimum number of markers, maximum homozygous markers allowed inside a HER, and the minimum length size impacted HERs detection. For the minimum length size, the 10 Kb scenario showed the highest average number of HERs (1,364.69 ± 1,483.64). The number of HERs decreased as the minimum number of markers increased (621.31 ± 1,271.83 to 6.08 ± 21.94), and an opposite pattern was observed for the maximum homozygous markers allowed inside a HER (54.47 ± 195.51 to 494.89 ± 1,169.35). Forty-five HER islands located in 23 chromosomes with high Tajima’s D values and differential among the observed and estimated heterozygosity were detected in all evaluated scenarios, indicating their ability to potentially detect regions under balancing selection. In total, 3,440 markers and 28 genes previously related to fertility (e.g., TP63, ZSCAN23, NEK5, ARHGAP44), immunity (e.g., TP63, IGC, ARHGAP44), residual feed intake (e.g., MAYO9A), stress sensitivity (e.g., SERPINA6), and milk fat percentage (e.g., NOL4) were identified. When comparing HER islands among breeds, there were substantial overlaps between Holstein with Angus (95.3%), Jersey (94.3%), and Norwegian Red cattle (97.1%), indicating conserved HER across taurine breeds. Conclusions The detection of HERs varied according to the parameters used, but some HERs were consistently identified across all scenarios. Heterozygous genotypes observed across generations and breeds appear to be conserved in HERs. The results presented could serve as a guide for defining HERs detection parameters and further investigating their biological roles in future studies.

Abstract Background The selection of individuals based on their predicted breeding values and mating of related individuals can increase the proportion of identical-by-descent alleles. In this context, the objectives of this study were to estimate inbreeding coefficients based on alternative metrics and data sources such as pedigree (FPED), hybrid genomic relationship matrix H (FH), and ROH of different length (FROH); and calculate Pearson correlations between the different metrics in a closed Nellore cattle population selected for body weight adjusted to 378 days of age (W378). In addition to total FROH (all classes) coefficients were also estimated based on the size class of the ROH segments: FROH1 (1–2 Mb), FROH2 (2–4 Mb), FROH3 (4–8 Mb), FROH4 (8–16 Mb), and FROH5 (> 16 Mb), and for each chromosome (FROH_CHR). Furthermore, we assessed the effect of each inbreeding metric on birth weight (BW), body weights adjusted to 210 (W210) and W378, scrotal circumference (SC), and residual feed intake (RFI). We also evaluated the chromosome-specific effects of inbreeding on growth traits. Results The correlation between FPED and FROH was 0.60 while between FH and FROH and FH and FPED were 0.69 and 0.61, respectively. The annual rate of inbreeding was 0.16% for FPED, 0.02% for FH, and 0.16% for FROH. A 1% increase in FROH5 resulted in a reduction of up to -1.327 ± 0.495 kg in W210 and W378. Four inbreeding coefficients (FPED, FH, FROH2, and FROH5) had a significant effect on W378, with reductions of up to -3.810 ± 1.753 kg per 1% increase in FROH2. There was an unfavorable effect of FPED on RFI (0.01 ± 0.0002 kg dry matter/day) and of FROH on SC (-0.056 ± 0.022 cm). The FROH_CHR coefficients calculated for BTA3, BTA5, and BTA8 significantly affected the growth traits. Conclusions Inbreeding depression was observed for all traits evaluated. However, these effects were greater for the criterion used for selection of the animals (i.e., W378). The increase in the genomic inbreeding was associated with a higher inbreeding depression on the traits evaluated when compared to pedigree-based inbreeding. Genomic information should be used as a tool during mating to optimize control of inbreeding and, consequently, minimize inbreeding depression in Nellore cattle.

This conceptual review addresses the social sustainability challenges facing traditional alpaca pastoralism in Peru, particularly in light of economic and environmental interventions such as selective breeding for international market demands. While efforts to prioritize economic and environmental sustainability are well-documented, the neglect of social sustainability threatens the survival of traditional Andean knowledge, practices, and cultural resilience. Utilizing a triple-bottom-line framework, this review explores the social impacts of genetic biodiversity conservation efforts within the Peruvian alpaca value chain. It highlights how selective breeding, driven by global market preferences, risks eroding not only the genetic diversity of alpacas but also the sustainability of traditional herding practices. The review underscores the need for increased attention to social dimensions when implementing technical solutions to economic and environmental challenges, emphasizing the preservation of indigenous knowledge systems and practices to sustain the livelihoods and cultural heritage of alpaqueros. Recommendations include prioritizing social sustainability by integrating traditional practices into development agendas, fostering greater participation from indigenous communities, and encouraging the transmission of intergenerational knowledge to ensure the long-term viability of Peruvian pastoralism. Future research directions are also discussed.

ABSTRACT: Pekin duck (Anas platyrhynchos domesticus) is the most widely consumed duck protein with nearly 35 million animals produced annually in the United States and exported worldwide. Pekin ducks are primarily utilized in meat production, so very little information is available about their heritability estimates and genetic correlations for traits related to egg quality. Genetically improving duck populations together with the implementation of more efficient nutritional and management strategies is paramount for the long-term sustainability of the US duck industry. There is a potential opportunity to increase meat duck productivity by improving hatching egg quality. The main objectives of this study were to estimate heritability and genetic correlations for various egg quality traits in a commercial population of Pekin ducks. Egg quality traits for 612 Pekin duck females were measured through 3 time points over 2 generations (GEN) [30, 32, and 35 wk of age (WOA)]. GEN 2 had an additional sampling occurring at 40 WOA. Genetic correlations and heritability estimates were calculated for all the traits using the BLUPF90 software, the Restricted Maximum Likelihood (REML) method, and a pedigree containing 9,418 individuals. All egg quality traits evaluated are moderately to highly heritable ranging from 0.20 for Haugh Unit (HU) and Vitelline Membrane Strength (VMS) to 0.71 for shell ratio (SR). Heritability estimates were calculated for each age of collection and in general heritability increased up to 35 WOA. Genetic correlations between egg quality traits showed a wide range of positive and negative relationships with correlation strengths ranging of −0.80 [yolk ratio (YR) and albumin ratio (AR)] to 0.99 [egg volume (EV) and egg weight (EW)]. The results of this study highlight the potential to improve hatching egg quality within Pekin ducks using a multi-trait selection scheme through direct genetic selection.

Climate change poses a growing threat to the livestock industry, impacting animal productivity, animal welfare, and farm management practices. Thus, enhancing livestock climatic resilience (CR) is becoming a key priority in various breeding programs. CR can be defined as the ability of an animal to be minimally affected or rapidly return to euthermia under thermally stressful conditions. The primary study objectives were to perform genome-wide association studies for 12 CR indicators derived from variability in longitudinal vaginal temperature in lactating sows under heat stress conditions. A total of 31 single nucleotide polymorphisms (SNPs) located on nine chromosomes were considered as significantly associated with nine CR indicators based on different thresholds. Among them, only two SNPs were simultaneously identified for different CR indicators, SSC6:16,449,770 bp and SSC7:39,254,889 bp. These results highlighted the polygenic nature of CR indicators with small effects distributed across different chromosomes. Furthermore, we identified 434 positional genes associated with CR. Key candidate genes include SLC3A2, STX5, POLR2G, and GANAB, which were previously related to heat stress responses, protein folding, and cholesterol metabolism. Furthermore, the enriched KEGG pathways and Gene Ontology (GO) terms associated with these candidate genes are linked to stress responses, immune and inflammatory responses, neural system, and DNA damage and repair. The most enriched quantitative trait loci are related to “Meat and Carcass”, followed by “Production”, “Reproduction”, “Health”, and “Exterior (conformation and appearance)” traits. Multiple genomic regions were identified associated with different CR indicators, which reveals that CR is a highly polygenic trait with small effect sizes distributed across the genome. Many heat tolerance or HS related genes in our study, such as HSP90AB1, DMGDH, and HOMER1, have been identified. The complexity of CR encompasses a range of adaptive responses, from behavioral to cellular. These results highlight the possibility of selecting more heat-tolerant individuals based on the identified SNP for CR indicators.

Body conformation traits are directly associated with longevity, fertility, health, and workability in dairy cows and have been under direct genetic selection for many decades in various countries worldwide. The main objectives of this study were to perform genome-wide association studies and functional enrichment analyses for fourteen body conformation traits using imputed high-density single nucleotide polymorphism (SNP) genotypes. The traits analyzed include body condition score (BCS), body depth (BD), bone quality (BQ), chest width (CW), dairy capacity (DC), foot angle (FAN), front legs view (FLV), heel depth (HDe), height at front end (HFE), locomotion (LOC), rear legs rear view (RLRV), rear legs side view (RLSV), stature (ST), and a composite feet and legs score index (FL) of Holstein cows scored in Canada. De-regressed estimated breeding values from a dataset of 39,135 North American Holstein animals were used as pseudo-phenotypes in the genome-wide association analyses. A mixed linear model was used to estimate the SNP effects, which ranged from 239,533 to 242,747 markers depending on the trait analyzed. Genes and quantitative trait loci (QTL) located up to 100 Kb upstream or downstream of the significant SNPs previously cited in the Animal QTLdb were detected, and functional enrichment analyses were performed for the candidate genes identified for each trait. A total of 20, 60, 13, 17, 27, 8, 7, 19, 4, 10, 13, 15, 7, and 13 genome-wide statistically significant SNPs for Bonferroni correction based on independent chromosomal segments were identified for BCS, BD, BQ, CW, DC, FAN, FLV, HDe, HFE, LOC, RLRV, RLSV, ST, and FL, respectively. The significant SNPs were located across the whole genome, except on chromosomes BTA24, BTA27, and BTA29. Four markers (for BCS, BD, HDe, and RLRV) were statistically significant when considering a much stricter threshold for the Bonferroni correction for multiple tests. Moreover, the genomic regions identified overlap with various QTL previously reported for the trait groups of exterior, health, meat and carcass, milk, production, and reproduction. The functional enrichment analyses revealed 27 significant gene ontology terms. These enriched genomic regions harbor various candidate genes previously reported as linked to bone development, metabolism, as well as infectious and immunological diseases.

Abstract Background Longitudinal records of automatically-recorded vaginal temperature (TV) could be a key source of data for deriving novel indicators of climatic resilience (CR) for breeding more resilient pigs, especially during lactation when sows are at an increased risk of suffering from heat stress (HS). Therefore, we derived 15 CR indicators based on the variability in TV in lactating sows and estimated their genetic parameters. We also investigated their genetic relationship with sows’ key reproductive traits. Results The heritability estimates of the CR traits ranged from 0.000 ± 0.000 for slope for decreased rate of TV (SlopeDe) to 0.291 ± 0.047 for sum of TV values below the HS threshold (HSUB). Moderate to high genetic correlations (from 0.508 ± 0.056 to 0.998 ± 0.137) and Spearman rank correlations (from 0.431 to 1.000) between genomic estimated breeding values (GEBV) were observed for five CR indicators, i.e. HS duration (HSD), the normalized median multiplied by normalized variance (Nor_medvar), the highest TV value of each measurement day for each individual (MaxTv), and the sum of the TV values above (HSUA) and below (HSUB) the HS threshold. These five CR indicators were lowly to moderately genetically correlated with shoulder skin surface temperature (from 0.139 ± 0.008 to 0.478 ± 0.048) and respiration rate (from 0.079 ± 0.011 to 0.502 ± 0.098). The genetic correlations between these five selected CR indicators and sow reproductive performance traits ranged from − 0.733 to − 0.175 for total number of piglets born alive, from − 0.733 to − 0.175 for total number of piglets born, and from − 0.434 to − 0.169 for number of pigs weaned. The individuals with the highest GEBV (most climate-sensitive) had higher mean skin surface temperature, respiration rate (RR), panting score (PS), and hair density, but had lower mean body condition scores compared to those with the lowest GEBV (most climate-resilient). Conclusions Most of the CR indicators evaluated are heritable with substantial additive genetic variance. Five of them, i.e. HSD, MaxTv, HSUA, HSUB, and Nor_medvar share similar underlying genetic mechanisms. In addition, individuals with higher CR indicators are more likely to exhibit better HS-related physiological responses, higher body condition scores, and improved reproductive performance under hot conditions. These findings highlight the potential benefits of genetically selecting more heat-tolerant individuals based on CR indicators.

Lactation curves, which describe the production pattern of milk-related traits over time, provide insightful information about individual cow health, resilience, and milk production efficiency. Key functional traits can be derived through lactation curve modeling, such as lactation peak and persistency. Furthermore, novel traits such as resilience indicators can be derived based on the variability of the deviations of observed milk yield from the expected lactation curve fitted for each animal. Lactation curve parameters are heritable, indicating that one can modify the average lactation curve of a population through selective breeding. Various statistical methods can be used for modeling longitudinal traits. Among them, the use of random regression models enables a more flexible and robust modeling of lactation curves compared with traditional models used to evaluate accumulated milk 305-d yield, as they enable the estimation of both genetic and environmental effects affecting milk production traits over time. In this symposium review, we discuss the importance of evaluating lactation curves from a longitudinal perspective and various statistical and mathematical models used to analyze longitudinal data. We also highlighted the key factors that influence milk production over time, and the potential applications of longitudinal analyses of lactation curves in improving animal health, resilience, and milk production efficiency. Overall, analyzing the longitudinal nature of milk yield will continue to play a crucial role in improving the production efficiency and sustainability of the dairy industry, and the methods and models developed can be easily translated to other longitudinal traits.

ABSTRACT: Selection for resilience indicator (RIND) traits in Holstein cattle is becoming an important breeding objective as the worldwide population is expected to be exposed to increased environmental stressors due to both climate change and changing industry standards. However, genetic correlations between RIND and productivity indicator (PIND) traits, which are already being selected for and have the most economic value, are often unfavorable. As a result, it is necessary to fully understand these genetic relationships when incorporating novel traits into selection indices, so that informed decisions can be made to fully optimize selection for both groups of traits. In the past 2 decades, there have been many estimates of RIND traits published in the literature, albeit in small populations. To provide valuable pooled summary estimates, a random-effects meta-analysis was conducted for heritability and genetic correlation estimates for PIND and RIND traits in worldwide Holstein cattle. In total, 926 heritability estimates for 9 PIND and 27 RIND traits, along with 362 estimates of genetic correlation (PIND × RIND traits) were collected. Resilience indicator traits were grouped into the following subgroups: Metabolic Diseases, Hoof Health, Udder Health, Fertility, Heat Tolerance, Longevity, and Other. Pooled estimates of heritability for PIND traits ranged from 0.201 ± 0.05 (energy-corrected milk) to 0.377 ± 0.06 (protein content), while pooled estimates of heritability for RIND traits ranged from 0.032 ± 0.02 (incidence of lameness, incidence of milk fever) to 0.497 ± 0.05 (measures of body weight). Pooled estimates of genetic correlations ranged from −0.360 ± 0.25 (protein content vs. milk acetone concentration) to 0.535 ± 0.72 (measures of fat-to-protein ratio vs. milk acetone concentration). Additionally, out of 243 potential genetic correlations between PIND and RIND traits that could have been reported, only 40 had enough published estimates to implement the meta-analysis model. Our results confirmed that the interactions between PIND and RIND traits are complex, and all relationships should be evaluated when incorporating novel traits into selection indices. This study provides a valuable reference for breeders looking to incorporate RIND traits for Holstein cattle into selection indices.

Abstract Background Heat stress (HS) poses significant threats to the sustainability of livestock production. Genetically improving heat tolerance could enhance animal welfare and minimize production losses during HS events. Measuring phenotypic indicators of HS response and understanding their genetic background are crucial steps to optimize breeding schemes for improved climatic resilience. The identification of genomic regions and candidate genes influencing the traits of interest, including variants with pleiotropic effects, enables the refinement of genotyping panels used to perform genomic prediction of breeding values and contributes to unraveling the biological mechanisms influencing heat stress response. Therefore, the main objectives of this study were to identify genomic regions, candidate genes, and potential pleiotropic variants significantly associated with indicators of HS response in lactating sows using imputed whole-genome sequence (WGS) data. Phenotypic records for 18 traits and genomic information from 1,645 lactating sows were available for the study. The genotypes from the PorcineSNP50K panel containing 50,703 single nucleotide polymorphisms (SNPs) were imputed to WGS and after quality control, 1,622 animals and 7,065,922 SNPs were included in the analyses. Results A total of 1,388 unique SNPs located on sixteen chromosomes were found to be associated with 11 traits. Twenty gene ontology terms and 11 biological pathways were shown to be associated with variability in ear skin temperature, shoulder skin temperature, rump skin temperature, tail skin temperature, respiration rate, panting score, vaginal temperature automatically measured every 10 min, vaginal temperature measured at 0800 h, hair density score, body condition score, and ear area. Seven, five, six, two, seven, 15, and 14 genes with potential pleiotropic effects were identified for indicators of skin temperature, vaginal temperature, animal temperature, respiration rate, thermoregulatory traits, anatomical traits, and all traits, respectively. Conclusions Physiological and anatomical indicators of HS response in lactating sows are heritable but highly polygenic. The candidate genes found are associated with important gene ontology terms and biological pathways related to heat shock protein activities, immune response, and cellular oxidative stress. Many of the candidate genes with pleiotropic effects are involved in catalytic activities to reduce cell damage from oxidative stress and cellular mechanisms related to immune response.

ABSTRACT: Precision livestock farming technologies, such as automatic milk feeding machines, have increased the availability of on-farm data collected from dairy operations. We analyzed feeding records from automatic milk feeding machines to evaluate the genetic background of milk feeding traits and bovine respiratory disease (BRD) in North American Holstein calves. Data from 10,076 preweaning female Holstein calves were collected daily over a period of 6 yr (3 yr included per-visit data), and daily milk consumption (DMC), per-visit milk consumption (PVMC), daily sum of drinking duration (DSDD), drinking duration per-visit, daily number of rewarded visits (DNRV), and total number of visits per day were recorded over a 60-d preweaning period. Additional traits were derived from these variables, including total consumption and duration variance (TCV and TDV), feeding interval, drinking speed (DS), and preweaning stayability. A single BRD-related trait was evaluated, which was the number of times a calf was treated for BRD (NTT). The NTT was determined by counting the number of BRD incidences before 60 d of age. All traits were analyzed using single-step genomic BLUP mixed-model equations and fitting either repeatability or random regression models in the BLUPF90+ suite of programs. A total of 10,076 calves with phenotypic records and genotypic information for 57,019 SNP after the quality control were included in the analyses. Feeding traits had low heritability estimates based on repeatability models (0.006 ± 0.0009 to 0.08 ± 0.004). However, total variance traits using an animal model had greater heritabilities of 0.21 ± 0.023 and 0.23 ± 0.024, for TCV and TDV, respectively. The heritability estimates increased with the repeatability model when using only the first 32 d preweaning (e.g., PVMC = 0.040 ± 0.003, DMC = 0.090 ± 0.009, DSDD = 0.100 ± 0.005, DS = 0.150 ± 0.007, DNRV = 0.020 ± 0.002). When fitting random regression models (RRM) using the full dataset (60-d period), greater heritability estimates were obtained (e.g., PVMC = 0.070 [range: 0.020, 0.110], DMC = 0.460 [range: 0.050, 0.680], DSDD = 0.180 [range: 0.010, 0.340], DS = 0.19 [range: 0.070, 0.430], DNRV = 0.120 [range: 0.030, 0.450]) for the majority of the traits, suggesting that RRM capture more genetic variability than the repeatability model with better fit being found for RRM. Moderate negative genetic correlations of −0.59 between DMC and NTT were observed, suggesting that automatic milk feeding machines records have the potential to be used for genetically improving disease resilience in Holstein calves. The results from this study provide key insights of the genetic background of early in-life traits in dairy cattle, which can be used for selecting animals with improved health outcomes and performance.

ABSTRACT: Hoof diseases are a major welfare and economic issue in the global dairy cattle production industry, which can be minimized through improved management and breeding practices. Optimal genetic improvement of hoof health could benefit from a deep understanding of the genetic background and biological underpinning of indicators of hoof health. Therefore, the primary objectives of this study were to perform genome-wide association studies, using imputed high-density genetic markers data from North American Holstein cattle, for 8 hoof-related traits: digital dermatitis, sole ulcer, sole hemorrhage, white line lesion, heel horn erosion, interdigital dermatitis, interdigital hyperplasia, and toe ulcer, and a hoof health index. De-regressed estimated breeding values from 25,580 Holstein animals were used as pseudo-phenotypes for the association analyses. The genomic quality control, genotype phasing, and genotype imputation were performed using the PLINK (version 1.9), Eagle (version 2.4.1), and Minimac4 software, respectively. The functional genomic analyses were performed using the GALLO R package and the DAVID platform. We identified 22, 34, 14, 22, 28, 33, 24, 43, and 15 significant markers for digital dermatitis, heel horn erosion, interdigital dermatitis, interdigital hyperplasia, sole hemorrhage, sole ulcer, toe ulcer, white line lesion disease, and the hoof health index, respectively. The significant markers were located across all autosomes, except BTA10, BTA12, BTA20, BTA26, BTA27, and BTA28. Moreover, the genomic regions identified overlap with various previously reported quantitative trait loci for exterior, health, meat and carcass, milk, production, and reproduction traits. The enrichment analyses identified 44 significant gene ontology terms. These enriched genomic regions harbor various candidate genes previously associated with bone development, metabolism, and infectious and immunological diseases. These findings indicate that hoof health traits are highly polygenic and influenced by a wide range of biological processes.

Knowledge of past and present genetic diversity within a breed is critical for the design and optimization of breeding programs as well as the development of strategies for the conservation of genetic resources. The Polypay sheep breed was developed at the U.S. Sheep Experiment Station (USSES) in 1968 with the goal of improving productivity in Western U.S. range flocks. It has since flourished in the more intensively managed production systems throughout the U.S. The genetic diversity of the breed has yet to be documented. Therefore, the primary objective of this study was to perform a comprehensive evaluation of the genetic diversity and population structure of U.S. Polypay sheep using both pedigree- and genomic-based methods. Pedigree data from 193 Polypay flocks participating in the National Sheep Improvement Program (NSIP) were combined with pedigree records from USSES (n = 162,997), tracing back to the breed’s origin. A subset of these pedigreed sheep from 32 flocks born from 2011 to 2023 were genotyped with the GGP Ovine 50K BeadChip containing 51,867 single nucleotide polymorphisms (SNPs). Four subgroups were used for the pedigree-based analyses: 1) the current generation of animals born in 2020–2022 (n = 20,701), 2) the current generation with a minimum of four generations of known ancestors (n = 12,685), 3) only genotyped animals (n = 1,856), and 4) the sires of the current generation (n = 509). Pedigree-based inbreeding for the full population was 2.2%, with a rate of inbreeding of 0.22% per generation. Pedigree-based inbreeding, Wright’s inbreeding, and genomic inbreeding based on runs of homozygosity were 2.9%, 1.3%, and 5.1%, respectively, for the genotyped population. The effective population size ranged from 41 to 249 for the pedigree-based methods and 118 for the genomic-based estimate. Expected and observed heterozygosity levels were 0.409 and 0.403, respectively. Population substructure was evident based on the fixation index (FST), principal component analysis, and model-based population structure. These analyses provided evidence of differentiation from the foundation flock (USSES). Overall, the Polypay breed exhibited substantial genetic diversity and the presence of a population substructure that provides a basis for the implementation of genomic selection in the breed.

ABSTRACT: This study aimed to explore the genetic basis of walking ability and potentially related performance traits in turkey purebred populations. Phenotypic, pedigree, and genomic datasets from 2 turkey lines hatched between 2010 and 2023 were included in the study. Walking ability data, defined based on a scoring system ranging from 1 (worst) to 6 (best), were collected on 192,019 animals of a female line and 235,461 animals of a male line. Genomic information was obtained for 46,427 turkeys (22,302 from a female line and 24,125 from a male line) using a 65K single nucleotide polymorphism (SNP) panel. Variance components and heritability for walking ability were estimated. Furthermore, genetic and phenotypic correlations among walking ability, mortality and disorders, and performance traits were calculated. A genome-wide association study (GWAS) was also conducted to identify SNPs associated with walking ability. Walking ability is moderately heritable (0.23 ± 0.01) in both turkey lines. The genetic correlations between walking ability and the other evaluated traits ranged from -0.02 to -0.78, with leg defects exhibiting the strongest negative correlation with walking ability. In the female line, 31 SNPs were associated with walking ability and overlapped with 116 genes. These positional genes are linked to 6 gene ontology (GO) terms. Notably, genes such as CSRP2, DDX1, RHBDL1, SEZ6L, and CTSK are involved in growth, development, locomotion, and bone disorders. GO terms, including fibronectin binding (GO:0001968), peptide cross-linking (GO:0018149), and catabolic process (GO:0009057), are directly linked with mobility. In the male line, 66 markers associated with walking ability were identified and overlapped with 281 genes. These genes are linked to 12 GO terms. Genes such as RB1CC1, TNNI1, MSTN, FN1, SIK3, PADI2, ERBB4, B3GNT2, and BACE1 are associated with cell growth, myostatin development, and disorders. GO terms in the male line are predominantly related to lipid metabolism. In conclusion, walking ability is moderately heritable in both populations. Furthermore, walking ability can be enhanced through targeted genetic selection, emphasizing its relevance to both animal welfare and productivity.

ABSTRACT: Disease-related milk losses directly affect dairy herds' profitability and the production efficiency of the dairy industry. Therefore, this study aimed to quantify phenotypic variability in milk fluctuation periods related to diseases and to explore milk fluctuation traits as indicators of disease resilience. By combining high-frequency daily milk yield data with disease records of cows that were treated and recovered from the disease, we estimated milk variability trends within a fixed period around the treatment day of each record for 5 diseases: udder health, reproductive disorders, metabolic disorders, digestive disorders, and hoof health. The average milk yield decreased rapidly from 6 to 8 d before the treatment day for all diseases, with the largest milk reduction observed on the treatment day. Additionally, we assessed the significance of milk fluctuation periods highly related to diseases by defining milk fluctuations as a period of at least 10 consecutive days in which milk yield fell below 90% of the expected milk production values at least once. We defined the development and recovery phases of milk fluctuations using 3,847 milk fluctuation periods related to disease incidences, and estimated genetic parameters of milk fluctuation traits, including milk losses, duration of the fluctuation, variation rate in daily milk yield, and standard deviation of milk deviations for each phase and their genetic correlation with several important traits. In general, the disease-related milk fluctuation periods lasted 21.19 ± 10.36 d with a milk loss of 115.54 ± 92.49 kg per lactation. Compared with the development phase, the recovery phase lasted an average of 3.3 d longer, in which cows produced 11.04 kg less milk and exhibited a slower variation rate in daily milk yield of 0.35 kg/d. There were notable differences in milk fluctuation traits depending on the disease, and greater milk losses were observed when multiple diseases occurred simultaneously. All milk fluctuation traits evaluated were heritable with heritability estimates ranging from 0.01 to 0.10, and moderate to high genetic correlations with milk yield (0.34 to 0.64), milk loss throughout the lactation (0.22 to 0.97), and resilience indicator (0.39 to 0.95). These results indicate that cows with lower milk losses and higher resilience tend to have more stable milk fluctuations, which supports the potential for breeding for more disease-resilient cows based on milk fluctuation traits. Overall, this study confirms the high effect of diseases on milk yield variability and provides insightful information about their relationship with relevant traits in Holstein cattle. Furthermore, this study shows the potential of using high-frequency automatic monitoring of milk yield to assist on breeding practices and health management in dairy cows.

The development of an across-country genomic evaluation scheme is a promising alternative for enlarging reference populations and successfully implementing genomic selection in small ruminant populations. However, the feasibility of such evaluations depends on the genetic similarity among the populations, and therefore, high connectedness and high genetic correlations between the traits recorded in different countries or populations are needed. In this study, we evaluated the feasibility of performing an across-country genomic evaluation for milk production and type traits in Alpine and Saanen goats from Canada, France, Italy, and Switzerland. Variance components and genetic parameters, including genetic correlations between traits recorded in different countries, were calculated using combined phenotypes, genotypes, and pedigree datasets. The (co)variance component analyses were performed within breed, either based only on pedigree information or also incorporating genomic information. Across-country genetic parameters were calculated for 3 representative traits (i.e., milk yield, fat content, and rear udder attachment). The heritability estimates ranged from 0.10 to 0.50, which are consistent with previous estimates reported in the literature. The genetic correlations for rear udder attachment ranged from 0.75 (between France and Italy, for the Alpine breed without genomic information) to 0.95 (between Canada and France, for the Saanen breed with genomic information), whereas for fat content, between France and Italy, they ranged from 0.75 in the Alpine breed without genomic information to 0.78 in the Alpine breed with genomic information. However, genetic correlations for milk yield were only estimable between France and Italy, with a moderate value of 0.45 for the Alpine breed with or without genomic information, and of 0.22 and 0.26 in the Saanen breed with and without genomic information, respectively. These low genetic correlations for milk yield could be due to several factors, including the trait definition in each country and genotype-by-environment interactions (GxE). The high genetic correlations found for fat content and rear udder attachment indicate that these traits might be more standardized across countries and less affected by GxE effects. Thus, an international genomic evaluation for these traits might be feasible. Further studies should be performed to understand the surprisingly lower genetic correlations between milk yield across countries. Furthermore, additional efforts should be made to increase the genetic connection among the Alpine and Saanen goat populations in the 4 countries included in the analyses.

Abstract Background Mapping expression quantitative trait loci (eQTLs) in skeletal muscle tissue in pigs is crucial for understanding the relationship between genetic variation and phenotypic expression of carcass traits in meat animals. Therefore, the primary objective of this study was to evaluate the impact of different sets of single nucleotide polymorphisms (SNP), including scenarios removing SNPs pruned for linkage disequilibrium (LD) and SNPs derived from SNP chip arrays and RNA-seq data from liver, brain, and skeletal muscle tissues, on the identification of eQTLs in the Longissimus lumborum tissue, associated with carcass and body composition traits in Large White pigs. The SNPs identified from muscle mRNA were combined with SNPs identified in the brain and liver tissue transcriptomes, as well as SNPs from the GGP Porcine 50 K SNP chip array. Cis- and trans-eQTLs were identified based on the skeletal muscle gene expression level, followed by functional genomic analyses and statistical associations with carcass and body composition traits in Large White pigs. Results The number of cis- and trans-eQTLs identified across different sets of SNPs (scenarios) ranged from 261 to 2,539 and from 29 to 13,721, respectively. Furthermore, 6,180 genes were modulated by eQTLs in at least one of the scenarios evaluated. The eQTLs identified were not significantly associated with carcass and body composition traits but were significantly enriched for many traits in the “Meat and Carcass” type QTL. The scenarios with the highest number of cis- (n = 304) and trans- (n = 5,993) modulated genes were the unpruned and LD-pruned SNP set scenarios identified from the muscle transcriptome. These genes include 84 transcription factor coding genes. Conclusions After LD pruning, the set of SNPs identified based on the transcriptome of the skeletal muscle tissue of pigs resulted in the highest number of genes modulated by eQTLs. Most eQTLs are of the trans type and are associated with genes influencing complex traits in pigs, such as transcription factors and enhancers. Furthermore, the incorporation of SNPs from other genomic regions to the set of SNPs identified in the porcine skeletal muscle transcriptome contributed to the identification of eQTLs that had not been identified based on the porcine skeletal muscle transcriptome alone.

Abstract Background Feeding costs represent the largest expenditures in beef production. Therefore, the animal efficiency in converting feed in high-quality protein for human consumption plays a major role in the environmental impact of the beef industry and in the beef producers’ profitability. In this context, breeding animals for improved feed efficiency through genomic selection has been considered as a strategic practice in modern breeding programs around the world. Copy number variation (CNV) is a less-studied source of genetic variation that can contribute to phenotypic variability in complex traits. In this context, this study aimed to: (1) identify CNV and CNV regions (CNVRs) in the genome of Nellore cattle (Bos taurus indicus); (2) assess potential associations between the identified CNVR and weaning weight (W210), body weight measured at the time of selection (WSel), average daily gain (ADG), dry matter intake (DMI), residual feed intake (RFI), time spent at the feed bunk (TF), and frequency of visits to the feed bunk (FF); and, (3) perform functional enrichment analyses of the significant CNVR identified for each of the traits evaluated. Results A total of 3,161 CNVs and 561 CNVRs ranging from 4,973 bp to 3,215,394 bp were identified. The CNVRs covered up to 99,221,894 bp (3.99%) of the Nellore autosomal genome. Seventeen CNVR were significantly associated with dry matter intake and feeding frequency (number of daily visits to the feed bunk). The functional annotation of the associated CNVRs revealed important candidate genes related to metabolism that may be associated with the phenotypic expression of the evaluated traits. Furthermore, Gene Ontology (GO) analyses revealed 19 enrichment processes associated with FF. Conclusions A total of 3,161 CNVs and 561 CNVRs were identified and characterized in a Nellore cattle population. Various CNVRs were significantly associated with DMI and FF, indicating that CNVs play an important role in key biological pathways and in the phenotypic expression of feeding behavior and growth traits in Nellore cattle.

Abstract Background Junipers (Juniperus spp.) are woody native, invasive plants that have caused encroachment problems in the U.S. western rangelands, decreasing forage productivity and biodiversity. A potential solution to this issue is using goats in targeted grazing programs. However, junipers, which grow in dry and harsh environmental conditions, use chemical defense mechanisms to deter herbivores. Therefore, genetically selecting goats for increased juniper consumption is of great interest for regenerative rangeland management. In this context, the primary objectives of this study were to: 1) estimate variance components and genetic parameters for predicted juniper consumption in divergently selected Angora (ANG) and composite Boer x Spanish (BS) goat populations grazing on Western U.S. rangelands; and 2) to identify genomic regions, candidate genes, and biological pathways associated with juniper consumption in these goat populations. Results The average juniper consumption was 22.4% (± 18.7%) and 7.01% (± 12.1%) in the BS and ANG populations, respectively. The heritability estimates (realized heritability within parenthesis) for juniper consumption were 0.43 ± 0.02 (0.34 ± 0.06) and 0.19 ± 0.03 (0.13 ± 0.03) in BS and ANG, respectively, indicating that juniper consumption can be increased through genetic selection. The repeatability values of predicted juniper consumption were 0.45 for BS and 0.28 for ANG. A total of 571 significant SNP located within or close to 231 genes in BS, and 116 SNP related to 183 genes in ANG were identified based on the genome-wide association analyses. These genes are primarily associated with biological pathways and gene ontology terms related to olfactory receptors, intestinal absorption, and immunity response. Conclusions These findings suggest that juniper consumption is a heritable trait of polygenic inheritance influenced by multiple genes of small effects. The genetic parameters calculated indicate that juniper consumption can be genetically improved in both goat populations.

ABSTRACT: Understanding the underlying pleiotropic relationships among growth and body size traits is important for refining breeding strategies in dairy cattle for optimal body size and growth rate. Therefore, we performed single-trait GWAS for monthly-recorded body weight (BW), hip height, body length, and chest girth from birth to 12 mo of age in Holstein animals, followed by stepwise multiple regression of independent or lowly-linked markers from GWAS loci using conditional and joint association analyses (COJO). Subsequently, we conducted a multitrait meta-analysis to detect pleiotropic markers. Based on the single-trait GWAS, we identified 170 significant SNPs, in which 59 of them remained significant after the COJO analyses. The most significant SNP, located at BTA7:3,676,741, explained 2.93% of the total phenotypic variance for BW6 (BW at 6 mo of age). We identified 17 SNPs with potential pleiotropic effects based on the multitrait meta-analyses, which resulted in 3 additional SNPs in comparison to those detected based on the single-trait GWAS. The identified quantitative trait loci regions overlap with genes known to influence human growth-related traits. According to positional and functional analyses, we proposed HMGA2, HNF4G, MED13L, BHLHE40, FRZB, DMP1, TRIB3, and GATAD2A as important candidate genes influencing the studied traits. The combination of single-trait GWAS and meta-analyses of GWAS results improved the efficiency of detecting associated SNPs, and provided new insights into the genetic mechanisms of growth and development in Holstein cattle.

Abstract Background Selecting animals for feed efficiency directly impacts the profitability of the beef cattle industry, which contributes to minimizing the environmental footprint of beef production. Genetic and environmental factors influence animal feed efficiency, leading to phenotypic variability when exposed to different environmental conditions (i.e., temperature and nutritional level). Thus, our aim was to assess potential genotype-by-environment (G × E) interactions for dry matter intake (DMI) and residual feed intake (RFI) in Nellore cattle (Bos taurus indicus) based on bi-trait reaction norm models (RN) and evaluate the genetic association between RFI and DMI across different environmental gradient (EG) levels. For this, we used phenotypic information on 12,958 animals (young bulls and heifers) for DMI and RFI recorded during 158 feed efficiency trials. Results The heritability estimates for DMI and RFI across EG ranged from 0.26 to 0.54 and from 0.07 to 0.41, respectively. The average genetic correlations (± standard deviation) across EG for DMI and RFI were 0.83 ± 0.19 and 0.81 ± 0.21, respectively, with the lowest genetic correlation estimates observed between extreme EG levels (low vs. high) i.e. 0.22 for RFI and 0.26 for DMI, indicating the presence of G × E interactions. The genetic correlation between RFI and DMI across EG levels decreased as the EG became more favorable and ranged from 0.79 (lowest EG) to 0.52 (highest EG). Based on the estimated breeding values from extreme EG levels (low vs. high), we observed a moderate Spearman correlation of 0.61 (RFI) and 0.55 (DMI) and a selection coincidence of 53.3% and 40.0% for RFI and DMI, respectively. Conclusions Our results show evidence of G × E interactions on feed efficiency traits in Nellore cattle, especially in feeding trials with an average daily gain (ADG) that is far from the expected of 1 kg/day, thus increasing reranking of animals.

Abstract Background Non-additive genetic effects are often ignored in livestock genetic evaluations. However, fitting them in the models could improve the accuracy of genomic breeding values. Furthermore, non-additive genetic effects contribute to heterosis, which could be optimized through mating designs. Traits related to fitness and adaptation, such as heat tolerance, tend to be more influenced by non-additive genetic effects. In this context, the primary objectives of this study were to estimate variance components and assess the predictive performance of genomic prediction of breeding values based on alternative models and two independent datasets, including performance records from a purebred pig population and heat tolerance indicators recorded in crossbred lactating sows. Results Including non-additive genetic effects when modelling performance traits in purebred pigs had no effect on the residual variance estimates for most of the traits, but lower additive genetic variances were observed, especially when additive-by-additive epistasis was included in the models. Furthermore, including non-additive genetic effects did not improve the prediction accuracy of genomic breeding values, but there was animal re-ranking across the models. For the heat tolerance indicators recorded in a crossbred population, most traits had small non-additive genetic variance with large standard error estimates. Nevertheless, panting score and hair density presented substantial additive-by-additive epistatic variance. Panting score had an epistatic variance estimate of 0.1379, which accounted for 82.22% of the total genetic variance. For hair density, the epistatic variance estimates ranged from 0.1745 to 0.1845, which represent 64.95–69.59% of the total genetic variance. Conclusions Including non-additive genetic effects in the models did not improve the accuracy of genomic breeding values for performance traits in purebred pigs, but there was substantial re-ranking of selection candidates depending on the model fitted. Except for panting score and hair density, low non-additive genetic variance estimates were observed for heat tolerance indicators in crossbred pigs.

Abstract Background Automatic and continuous recording of vaginal temperature (TV) using wearable sensors causes minimal disruptions to animal behavior and can generate data that enable the evaluation of temporal body temperature variation under heat stress (HS) conditions. However, the genetic basis of TV in lactating sows from a longitudinal perspective is still unknown. The objectives of this study were to define statistical models and estimate genetic parameters for TV in lactating sows using random regression models, and identify genomic regions and candidate genes associated with HS indicators derived from automatically-recorded TV. Results Heritability estimates for TV ranged from 0.14 to 0.20 over time (throughout the day and measurement period) and from 0.09 to 0.18 along environmental gradients (EG, − 3.5 to 2.2, which correspond to dew point values from 14.87 to 28.19 ˚C). Repeatability estimates of TV over time and along EG ranged from 0.57 to 0.66 and from 0.54 to 0.77, respectively. TV measured from 12h00 to 16h00 had moderately high estimates of heritability (0.20) and repeatability (0.64), indicating that this period might be the most suitable for recording TV for genetic selection purposes. Significant genotype-by-environment interactions (GxE) were observed and the moderately high estimates of genetic correlations between pairs of extreme EG indicate potential re-ranking of selection candidates across EG. Two important genomic regions on chromosomes 10 (59.370–59.998 Mb) and16 (21.548–21.966 Mb) were identified. These regions harbor the genes CDC123, CAMK1d, SEC61A2, and NUDT5 that are associated with immunity, protein transport, and energy metabolism. Across the four time-periods, respectively 12, 13, 16, and 10 associated genomic regions across 14 chromosomes were identified for TV. For the three EG classes, respectively 18, 15, and 14 associated genomic windows were identified for TV, respectively. Each time-period and EG class had uniquely enriched genes with identified specific biological functions, including regulation of the nervous system, metabolism and hormone production. Conclusions TV is a heritable trait with substantial additive genetic variation and represents a promising indicator trait to select pigs for improved heat tolerance. Moderate GxE for TV exist, indicating potential re-ranking of selection candidates across EG. TV is a highly polygenic trait regulated by a complex interplay of physiological, cellular and behavioral mechanisms.

Abstract Background Hoof structure and health are essential for the welfare and productivity of beef cattle. Therefore, we assessed the genetic and genomic background of foot score traits in American (US) and Australian (AU) Angus cattle and investigated the feasibility of performing genomic evaluations combining data for foot score traits recorded in US and AU Angus cattle. The traits evaluated were foot angle (FA) and claw set (CS). In total, 109,294 and ~ 1.12 million animals had phenotypic and genomic information, respectively. Four sets of analyses were performed: (1) genomic connectedness between US and AU Angus cattle populations and population structure, (2) estimation of genetic parameters, (3) single-step genomic prediction of breeding values, and (4) single-step genome-wide association studies for FA and CS. Results There was no clear genetic differentiation between US and AU Angus populations. Similar heritability estimates (FA: 0.22–0.24 and CS: 0.22–0.27) and moderate-to-high genetic correlations between US and AU foot scores (FA: 0.61 and CS: 0.76) were obtained. A joint-genomic prediction using data from both populations outperformed within-country genomic evaluations. A genomic prediction model considering US and AU datasets as a single population performed similarly to the scenario accounting for genotype-by-environment interactions (i.e., multiple-trait model considering US and AU records as different traits), even though the genetic correlations between countries were lower than 0.80. Common significant genomic regions were observed between US and AU for FA and CS. Significant single nucleotide polymorphisms were identified on the Bos taurus (BTA) chromosomes BTA1, BTA5, BTA11, BTA13, BTA19, BTA20, and BTA23. The candidate genes identified were primarily from growth factor gene families, including FGF12 and GDF5, which were previously associated with bone structure and repair. Conclusions This study presents comprehensive population structure and genetic and genomic analyses of foot scores in US and AU Angus cattle populations, which are essential for optimizing the implementation of genomic selection for improved foot scores in Angus cattle breeding programs. We have also identified candidate genes associated with foot scores in the largest Angus cattle populations in the world and made recommendations for genomic evaluations for improved foot score traits in the US and AU.

Introduction: Nellore cattle (Bos taurus indicus) is the main beef cattle breed raised in Brazil. This breed is well adapted to tropical conditions and, more recently, has experienced intensive genetic selection for multiple performance traits. Over the past 43 years, an experimental breeding program has been developed in the Institute of Animal Science (IZ, Sertaozinho, SP, Brazil), which resulted in three differentially-selected lines known as Nellore Control (NeC), Nellore Selection (NeS), and Nellore Traditional (NeT). The primary goal of this selection experiment was to determine the response to selection for yearling weight (YW) and residual feed intake (RFI) on Nellore cattle. The main objectives of this study were to: 1) identify copy number variation (CNVs) in Nellore cattle from three selection lines; 2) identify and characterize CNV regions (CNVR) on these three lines; and 3) perform functional enrichment analyses of the CNVR identified.Results: A total of 14,914 unique CNVs and 1,884 CNVRs were identified when considering all lines as a single population. The CNVRs were non-uniformly distributed across the chromosomes of the three selection lines included in the study. The NeT line had the highest number of CNVRs (n = 1,493), followed by the NeS (n = 823) and NeC (n = 482) lines. The CNVRs covered 23,449,890 bp (0.94%), 40,175,556 bp (1.61%), and 63,212,273 bp (2.54%) of the genome of the NeC, NeS, and NeT lines, respectively. Two CNVRs were commonly identified between the three lines, and six, two, and four exclusive regions were identified for NeC, NeS, and NeT, respectively. All the exclusive regions overlap with important genes, such as SMARCD3, SLC15A1, and MAPK1. Key biological processes associated with the candidate genes were identified, including pathways related to growth and metabolism.Conclusion: This study revealed large variability in CNVs and CNVRs across three Nellore lines differentially selected for YW and RFI. Gene annotation and gene ontology analyses of the exclusive CNVRs to each line revealed specific genes and biological processes involved in the expression of growth and feed efficiency traits. These findings contribute to the understanding of the genetic mechanisms underlying the phenotypic differences among the three Nellore selection lines.

Growth traits, such as body weight and height, are essential in the design of genetic improvement programs of dairy cattle due to their relationship with feeding efficiency, longevity, and health. We investigated genomic regions influencing height across growth stages in Japanese Holstein cattle using a single-step random regression model. We used 72,921 records from birth to 60 mo of age with 4,111 animals born between 2000 and 2016. The analysis included 1,410 genotyped animals with 35,319 single nucleotide polymorphisms, consisting of 883 females with records and 527 bulls, and 30,745 animals with pedigree information. A single genomic region at the 58.4 megabase pair on chromosome 18 was consistently identified across 6 age points of 10, 20, 30, 40, 50, and 60 mo after multiple testing corrections for the significance threshold. Twelve candidate genes, previously reported for longevity and gestation length, were found near the identified genomic region. Another location near the identified region was also previously associated with body conformation, fertility, and calving difficulty. Functional Gene Ontology enrichment analysis suggested that the candidate genes regulate dephosphorylation and phosphatase activity. Our findings show that further study of the identified candidate genes will contribute to a better understanding of the genetic basis of height in Japanese Holstein cattle.

Automated milk feeders (AMF) used for dairy calves continuously provide individual feeding behavior measurements. The objective of this retrospective cohort study was to evaluate the association between temperature-humidity index (THI), birth weight, and dam parity characteristics on feeding behavior (i.e., milk consumption and drinking speed). Historical data sets generated from a single commercial dairy farm, where healthy (not treated for bovine respiratory disease, enteric disease, or injury) Holstein calves were fed up to 24 L/d of milk, were used for the analysis. A total of 5,312 female Holstein calves born between August 2015 and August 2021 (mean birth weight ± standard deviation: 40.7 ± 4.7 kg) on a commercial dairy farm were fed up to 24 L/d of nonsaleable milk for the first 32 d. For the analyses, feeding behavior data from the AMF system were combined with demographic data from the farm management software, and weather records from the closest public weather station (7 km away). Linear mixed models used to analyze daily milk consumption and drinking speed included THI, birth weight, dam parity, and feeding day as fixed effects, and feeder and calf within feeder as random effects. These models explained 57% of the total variation in milk consumption and 48% of the variation in drinking speed. Calves born from primiparous cows had the lowest milk consumption and the greatest drinking speed in comparison to calves born from multiparous cows. Calves with heavier birth weights had higher milk consumption and faster drinking speed than lighter calves. Drinking speed was negatively associated with THI. Including data derived from individual calves and their environmental conditions in data sets exploring feeding behavior from AMF would control for variation and improve the predictive models for performance assessment.

Abstract Background Genetic selection based on direct indicators of heat stress could capture additional mechanisms that are involved in heat stress response and enable more accurate selection for more heat-tolerant individuals. Therefore, the main objectives of this study were to estimate genetic parameters for various heat stress indicators in a commercial population of Landrace × Large White lactating sows measured under heat stress conditions. The main indicators evaluated were: skin surface temperatures (SST), automatically-recorded vaginal temperature (TV), respiration rate (RR), panting score (PS), body condition score (BCS), hair density (HD), body size (BS), ear size, and respiration efficiency (Reff). Results Traits based on TV presented moderate heritability estimates, ranging from 0.15 ± 0.02 to 0.29 ± 0.05. Low heritability estimates were found for SST traits (from 0.04 ± 0.01 to 0.06 ± 0.01), RR (0.06 ± 0.01), PS (0.05 0.01), and Reff (0.03 ± 0.01). Moderate to high heritability values were estimated for BCS (0.29 ± 0.04 for caliper measurements and 0.25 ± 0.04 for visual assessments), HD (0.25 ± 0.05), BS (0.33 ± 0.05), ear area (EA; 0.40 ± 0.09), and ear length (EL; 0.32 ± 0.07). High genetic correlations were estimated among SST traits (> 0.78) and among TV traits (> 0.75). Similarly, high genetic correlations were also estimated for RR with PS (0.87 ± 0.02), with BCS measures (0.92 ± 0.04), and with ear measures (0.95 ± 0.03). Low to moderate positive genetic correlations were estimated between SST and TV (from 0.25 ± 0.04 to 0.76 ± 0.07). Low genetic correlations were estimated between TV and BCS (from − 0.01 ± 0.08 to 0.06 ± 0.07). Respiration efficiency was estimated to be positively and moderately correlated with RR (0.36 ± 0.04), PS (0.56 ± 0.03), and BCS (0.56 ± 0.05 for caliper measurements and 0.50 ± 0.05 for the visual assessments). All other trait combinations were lowly genetically correlated. Conclusions A comprehensive landscape of heritabilities and genetic correlations for various thermotolerance indicators in lactating sows were estimated. All traits evaluated are under genetic control and heritable, with different magnitudes, indicating that genetic progress is possible for all of them. The genetic correlation estimates provide evidence for the complex relationships between these traits and confirm the importance of a sub-index of thermotolerance traits to improve heat tolerance in pigs.

The linear conformation of animals exerts an influence on health, reproduction, production, and welfare, in addition to longevity, which directly affects the profitability of milk-producing farms. The objectives of this study were (1) to perform genome-wide association studies (GWASs) of conformation traits, namely the Rump, Feet and Legs, Mammary System, Dairy Strength, and Final Classification traits, and (2) to identify genes and related pathways involved in physiological processes associated with conformation traits in Brazilian Holstein cattle. Phenotypic and genotypic data from 2339 Holstein animals distributed across the states of Rio Grande do Sul, Paraná, São Paulo, and Minas Gerais were used. The genotypic data were obtained with a 100 K SNP marker panel. The single-step genome-wide association study (ssGWAS) method was employed in the analyses. Genes close to a significant SNP were identified in an interval of 100 kb up- and downstream using the Ensembl database available in the BioMart tool. The DAVID database was used to identify the main metabolic pathways and the STRING program was employed to create the gene regulatory network. In total, 36 significant SNPs were found on 15 chromosomes; 27 of these SNPs were linked to genes that may influence the traits studied. Fourteen genes most closely related to the studied traits were identified, as well as four genes that showed interactions in important metabolic pathways such as myogenesis, adipogenesis, and angiogenesis. Among the total genes, four were associated with myogenesis (TMOD2, TMOD3, CCND2, and CTBP2), three with angiogenesis (FGF23, FGF1, and SCG3), and four with adipogenesis and body size and development (C5H12orf4, CCND2, EMILIN1, and FGF6). These results contribute to a better understanding of the biological mechanisms underlying phenotypic variability in conformation traits in Brazilian Holstein cattle.

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

ABSTRACT: Considering the increasing challenges imposed by climate change and the need to improve animal welfare, breeding more resilient animals capable of better coping with environmental disturbances is of paramount importance. In dairy cattle, resilience can be evaluated by measuring the longitudinal occurrences of abnormal daily milk yield throughout lactation. Aiming to estimate genetic parameters for dairy cattle resilience, we collected 5,643,193 daily milk yield records on automatic milking systems (milking robots) and milking parlors across 21,350 lactations 1 to 3 of 11,787 North American Holstein cows. All cows were genotyped with 62,029 SNPs. After determining the best fitting models for each of the 3 lactations, daily milk yield residuals were used to derive 4 resilience indicators: weighted occurrence frequency of yield perturbations (wfPert), accumulated milk losses of yield perturbations (dPert), and log-transformed variance (LnVar) and lag-1 autocorrelation (rauto) of daily yield residuals. The indicator LnVar presented the highest heritability estimates (±standard error), ranging from 0.13 ± 0.01 in lactation 1 to 0.15 ± 0.02 in lactation 2; the other 3 indicators had relatively lower heritabilities across the 3 lactations (0.01–0.06). Based on bivariate analyses of each resilience indicator across lactations, stronger genetic correlations were observed between lactations 2 and 3 (0.88–0.96) than between lactations 1 and 2 or 3 (0.34–0.88) for dPert, LnVar, and rauto. For the pairwise comparisons of different resilience indicators within each lactation, dPert had the strongest genetic correlations with wfPert (0.64) and rauto (0.53) in lactation 1, whereas the correlations in lactations 2 and 3 were more variable and showed relatively high standard errors. The genetic correlation results indicated that different resilience indicators across lactations might capture additional biological mechanisms and should be considered as different traits in genetic evaluations. We also observed favorable genetic correlations of these resilience indicators with longevity and Net Merit index, but further biological validation of these resilience indicators is needed. In conclusion, this study provided genetic parameter estimates for different resilience indicators derived from daily milk yields across the first 3 lactations in Holstein cattle, which will be useful when potentially incorporating these traits in dairy cattle breeding schemes.

Abstract Background Genomic prediction of breeding values (GP) has been adopted in evolutionary genomic studies to uncover microevolutionary processes of wild populations or improve captive breeding strategies. While recent evolutionary studies applied GP with individual single nucleotide polymorphism (SNP), haplotype-based GP could outperform individual SNP predictions through better capturing the linkage disequilibrium (LD) between the SNP and quantitative trait loci (QTL). This study aimed to evaluate the accuracy and bias of haplotype-based GP of immunoglobulin (Ig) A (IgA), IgE, and IgG against Teladorsagia circumcincta in lambs of an unmanaged sheep population (Soay breed) based on Genomic Best Linear Unbiased Prediction (GBLUP) and five Bayesian [BayesA, BayesB, BayesCπ, Bayesian Lasso (BayesL), and BayesR] methods. Results The accuracy and bias of GPs using SNP, haplotypic pseudo-SNP from blocks with different LD thresholds (0.15, 0.2, 0.3, 0.4, 0.5, 0.6, 0.7, 0.8, 0.9, and 1.00), or the combinations of pseudo-SNPs and non-LD clustered SNPs were obtained. Across methods and marker sets, higher ranges of genomic estimated breeding values (GEBV) accuracies were observed for IgA (0.20 to 0.49), followed by IgE (0.08 to 0.20) and IgG (0.05 to 0.14). Considering the methods evaluated, up to 8% gains in GP accuracy of IgG were achieved using pseudo-SNPs compared to SNPs. Up to 3% gain in GP accuracy for IgA was also obtained using the combinations of the pseudo-SNPs with non-clustered SNPs in comparison to fitting individual SNP. No improvement in GP accuracy of IgE was observed using haplotypic pseudo-SNPs or their combination with non-clustered SNPs compared to individual SNP. Bayesian methods outperformed GBLUP for all traits. Most scenarios yielded lower accuracies for all traits with an increased LD threshold. GP models using haplotypic pseudo-SNPs predicted less-biased GEBVs mainly for IgG. For this trait, lower bias was observed with higher LD thresholds, whereas no distinct trend was observed for other traits with changes in LD. Conclusions Haplotype information improves GP performance of anti-helminthic antibody traits of IgA and IgG compared to fitting individual SNP. The observed gains in the predictive performances indicate that haplotype-based methods could benefit GP of some traits in wild animal populations.

ABSTRACT: The number of dairy farms adopting automatic milking systems (AMS) has considerably increased around the world aiming to reduce labor costs, improve cow welfare, increase overall performance, and generate a large amount of daily data, including production, behavior, health, and milk quality records. In this context, this study aimed to (1) estimate genomic-based variance components for milkability traits derived from AMS in North American Holstein cattle based on random regression models; and (2) derive and estimate genetic parameters for novel behavioral indicators based on AMS-derived data. A total of 1,752,713 daily records collected using 36 milking robot stations and 70,958 test-day records from 4,118 genotyped Holstein cows were used in this study. A total of 57,600 SNP remained after quality control. The daily-measured traits evaluated were milk yield (MY, kg), somatic cell score (SCS, score unit), milk electrical conductivity (EC, mS), milking efficiency (ME, kg/min), average milk flow rate (FR, kg/min), maximum milk flow rate (FRM, kg/min), milking time (MT, min), milking failures (MFAIL), and milking refusals (MREF). Variance components and genetic parameters for MY, SCS, ME, FR, FRM, MT, and EC were estimated using the AIREMLF90 software under a random regression model fitting a third-order Legendre orthogonal polynomial. A threshold Bayesian model using the THRGIBBS1F90 software was used for genetically evaluating MFAIL and MREF. The daily heritability estimates across days in milk (DIM) ranged from 0.07 to 0.28 for MY, 0.02 to 0.08 for SCS, 0.38 to 0.49 for EC, 0.45 to 0.56 for ME, 0.43 to 0.52 for FR, 0.47 to 0.58 for FRM, and 0.22 to 0.28 for MT. The estimates of heritability (± SD) for MFAIL and MREF were 0.02 ± 0.01 and 0.09 ± 0.01, respectively. Slight differences in the genetic correlations were observed across DIM for each trait. Strong and positive genetic correlations were observed among ME, FR, and FRM, with estimates ranging from 0.94 to 0.99. Also, moderate to high and negative genetic correlations (ranging from −0.48 to −0.86) were observed between MT and other traits such as SCS, ME, FR, and FRM. The genetic correlation (± SD) between MFAIL and MREF was 0.25 ± 0.02, indicating that both traits are influenced by different sets of genes. High and negative genetic correlations were observed between MFAIL and FR (−0.58 ± 0.02) and MFAIL and FRM (−0.56 ± 0.02), indicating that cows with more MFAIL are those with lower FR. The use of random regression models is a useful alternative for genetically evaluating AMS-derived traits measured throughout the lactation. All the milkability traits evaluated in this study are heritable and have demonstrated selective potential, suggesting that their use in dairy cattle breeding programs can improve dairy production efficiency in AMS.

Abstract Background Given the economic relevance of fertility and reproductive traits for the beef cattle industry, investigating their genetic background and developing effective breeding strategies are paramount. Considering their late and sex-dependent phenotypic expression, genomic information can contribute to speed up the rates of genetic progress per year. In this context, the main objectives of this study were to estimate variance components and genetic parameters, including heritability and genetic correlations, for fertility, female precocity, and semen production and quality (andrological attributes) traits in Nellore cattle incorporating genomic information. Results The heritability estimates of semen quality traits were low-to-moderate, while moderate-to-high estimates were observed for semen morphological traits. The heritability of semen defects ranged from low (0.04 for minor semen defects) to moderate (0.30 for total semen defects). For seminal aspect (SMN_ASPC) and bull reproductive fitness (BULL_FIT), low (0.19) and high (0.69) heritabilities were observed, respectively. The heritability estimates for female reproductive traits ranged from 0.16 to 0.39 for rebreeding of precocious females (REBA) and probability of pregnancy at 14 months (PP14), respectively. Semen quality traits were highly genetically correlated among themselves. Moderate-to-high genetic correlations were observed between the ability to remain productive in the herd until four years of age (stayability; STAY) and the other reproductive traits, indicating that selection for female reproductive performance will indirectly contribute to increasing fertility rates. High genetic correlations between BULL_FIT and female reproductive traits related to precocity (REBA and PP14) and STAY were observed. The genetic correlations between semen quality and spermatic morphology with female reproductive traits ranged from -0.22 (REBA and scrotal circumference) to 0.48 (REBA and sperm vigor). In addition, the genetic correlations between REBA with semen quality traits ranged from -0.23 to 0.48, and with the spermatic morphology traits it ranged from -0.22 to 0.19. Conclusions All male and female fertility and reproduction traits evaluated are heritable and can be improved through direct genetic or genomic selection. Selection for better sperm quality will positively influence the fertility and precocity of Nellore females. The findings of this study will serve as background information for designing breeding programs for genetically improving semen production and quality and reproductive performance in Nellore cattle.

ABSTRACT: 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.