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Transmission ratio distortion (TRD), or significant deviations from Mendelian inheritance, is a well-studied phenomenon on autosomal chromosomes, but has not yet received attention on sex chromosomes. TRD was analyzed on 3832 heterosomal single nucleotide polymorphisms (SNPs) and 400 pseudoautosomal SNPs spanning the length of the X-chromosome using 436,651 genotyped Holstein cattle. On the pseudoautosomal region, an opposite sire-TRD pattern between male and female offspring was identified for 149 SNPs. This finding revealed unique SNPs linked to a specific-sex (Y- or X-) chromosome and describes the accumulation of recombination events across the pseudoautosomal region. On the heterosomal region, 13 SNPs and 69 haplotype windows were identified with dam-TRD. Functional analyses for TRD regions highlighted relevant biological functions responsible to regulate spermatogenesis, development of Sertoli cells, homeostasis of endometrium tissue and embryonic development. This study uncovered the prevalence of different TRD patterns across both heterosomal and pseudoautosomal regions of the X-chromosome and revealed functional candidate genes for bovine reproduction.

The molecular mechanisms underlying heat stress tolerance in animals to high temperatures remain unclear. This experiment was performed with Sprague-Dawley rats housed at 22 ℃ (control group; CT), and 42 ℃ for 30 min (H30), 60 min (H60), and 120 min (H120). Transcriptomic analysis using RNA-Sequencing (RNA-Seq) from blood (CT and H120), liver (CT, H30, H60, and H120), and adrenal glands (CT, H30, H60, and H120) was performed. The differentially expressed mRNA isoforms (DEIs) were identified and annotated by the CLC Genomics Workbench. Biological process and metabolic pathway analyses were performed using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) database. A total of 225, 5,764, and 4,988 DEIs in the blood, liver, and adrenal glands were observed. Furthermore, the number of novel differentially expressed transcript lengths with annotated genes and the novel differentially expressed transcript with non-annotated genes were 136 and 8 in blood, 3,549 and 120 in the liver, as well as 3,078 and 220 in adrenal glands, respectively. A total of 35 genes were involved in the heat stress response, out of which Dnaja1, LOC680121, Chordc1, AABR07011951.1, Hsp90aa1, Hspa1b, Cdkn1a, Hmox1, Bag3 and Dnaja4 were commonly identified in the liver and adrenal glands, suggesting that these genes may regulate heat stress response through interactions between liver and adrenal glands. The results suggest that the identified mRNA isoforms could be considered as potential candidates for selecting mammals to improve thermotolerance.

The goal of this study was to estimate genetic parameters and predict direct and correlated response to selection for lamb growth traits and ewe reproductive traits, based on single-trait selection or combining multiple traits in an optimum index that targets total litter post-weaning weight in the first lambing as the main selection goal. Heritability estimates ranged from 0.04 to 0.19. Genetic correlations between growth and reproductive traits ranged from −0.24 to 0.15. The indirect response to selection for reproductive traits in later lambings, by selecting on first lambing performance, was 11%–25% greater than direct selection. The response to indirect selection for composite reproductive traits, i.e., total weaning weight or total post-weaning weight, by selecting on individual lamb weaning weight or post-weaning weight was 1%–69% greater than direct selection, but it was accompanied by a negative response on litter size. However, combining alternate growth and reproductive traits in optimum selection index resulted in correlated response of up to 96% greater than direct selection response for reproductive traits without a negative response on litter size. Therefore, multiple trait selection using an index of component traits was more effective than direct selection for a composite trait.

The identification of functional genetic variants and associated candidate genes linked to feed efficiency may help improve selection for feed efficiency in dairy cattle, providing economic and environmental benefits for the dairy industry. This study used RNA-sequencing data obtained from liver tissue from 9 Holstein cows [n = 5 low residual feed intake (RFI), n = 4 high RFI] and 10 Jersey cows (n = 5 low RFI, n = 5 high RFI), which were selected from a single population of 200 animals. Using RNA-sequencing, 3 analyses were performed to identify: (1) variants within low or high RFI Holstein cattle; (2) variants within low or high RFI Jersey cattle; and (3) variants within low or high RFI groups, which are common across both Holstein and Jersey cattle breeds. From each analysis, all variants were filtered for moderate, modifier, or high functional effect, and co-localized quantitative trait loci (QTL) classes, enriched biological processes, and co-localized genes related to these variants, were identified. The overlapping of the resulting genes co-localized with functional SNP from each analysis in both breeds for low or high RFI groups were compared. For the first two analyses, the total number of candidate genes associated with moderate, modifier, or high functional effect variants fixed within low or high RFI groups were 2,810 and 3,390 for Holstein and Jersey breeds, respectively. The major QTL classes co-localized with these variants included milk and reproduction QTL for the Holstein breed, and milk, production, and reproduction QTL for the Jersey breed. For the third analysis, the common variants across both Holstein and Jersey breeds, uniquely fixed within low or high RFI groups were identified, revealing a total of 86,209 and 111,126 functional variants in low and high RFI groups, respectively. Across all 3 analyses for low and high RFI cattle, 12 and 31 co-localized genes were overlapping, respectively. Among the overlapping genes across breeds, 9 were commonly detected in both the low and high RFI groups (INSRR, CSK, DYNC1H1, GAB1, KAT2B, RXRA, SHC1, TRRAP, PIK3CB), which are known to play a key role in the regulation of biological processes that have high metabolic demand and are related to cell growth and regeneration, metabolism, and immune function. The genes identified and their associated functional variants may serve as candidate genetic markers and can be implemented into breeding programs to help improve the selection for feed efficiency in dairy cattle.

Summary Deviation from Mendelian inheritance expectations (transmission ratio distortion, TRD) has been observed in several species, including the mouse and humans. In this study, TRD was characterized in the turkey genome using both allelic (specific‐ and unspecific‐parent TRD) and genotypic (additive‐ and dominance‐TRD) parameterizations within a Bayesian framework. In this study, we evaluated TRD for 23 243 genotyped Turkeys across 56 393 autosomal SNPs. The analyses included 500 sires, 2013 dams and 11 047 offspring (trios). Three different haplotype sliding windows of 4, 10 and 20 SNPs were used across the autosomal chromosomes. Based on the genotypic parameterizations, 14 haplotypes showed additive and dominance TRD effects highlighting regions with a recessive TRD pattern. In contrast, the allelic model uncovered 12 haplotype alleles with the allelic TRD pattern which showed an underrepresentation of heterozygous offspring in addition to the absence of homozygous animals. For regions with the allelic pattern, only one particular region showed a parent‐specific TRD where the penetrance was high via the dam, but low via the sire. The gene set analysis uncovered several gene ontology functional terms, Reactome pathways and several Medical Subject Headings that showed significant enrichment of genes associated with TRD. Many of these gene ontology functional terms (e.g. mitotic spindle assembly checkpoint, DRM complex and Aneuploidy), Reactome pathways (e.g. Mismatch repair) and Medical Subject Headings (e.g. Adenosine monophosphate) are known to be related to fertility, embryo development and lethality. The results of this study revealed potential novel candidate lethal haplotypes, functional terms and pathways that may enhance breeding programs in Turkeys through reducing mortality and improving reproduction rate.

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

Breeding stress-resilient livestock is a potential strategy to help mitigate the negative effect of environmental and pathogenic stressors. The hypothalamic-pituitary-adrenal axis and immune system are activated during stress events and release mediators into the circulation that help restore physiological homeostasis. The purpose of this study was to assess a comprehensive set of circulatory mediators released in response to an acute immune stress challenge to identify candidate biomarkers that can be used for the selection of stress-resilient animals. Fifteen female lambs were stress challenged with an intravenous bolus of lipopolysaccharide (LPS; 400 ng/kg), and blood was collected from the jugular vein at 0, 2, 4, and 6 h after LPS challenge to identify and monitor candidate stress biomarkers; temperature was also recorded over time. Biomarker responses were evaluated with a repeated-measures model to compare time points with baseline values. As expected, all sheep had a monophasic febrile response to LPS challenge, and cortisol increased and returned to baseline by 6 h. The cytokines tumor necrosis factor-α, IL-6, IFN-γ (proinflammatory), and IL-10 (anti-inflammatory) increased, but only tumor necrosis factor-α returned to baseline during the monitoring period. The cytokines IL-1α, IL-1β, IL-17α (proinflammatory), and IL-4 (anti-inflammatory) did not respond to LPS challenge. All chemokines (CCL2, CCL3, CCL4, CXCL10, and IL-8) responded to LPS challenge; however, only CCL2, CCL3, CCL4, and CXCL10 increased over time, and only CCL3, CCL4, and CXCL10 returned to baseline during the monitoring period. MicroRNA (miR-145, miR-233, and miR-1246) also increased and remained elevated during the study. In summary, the LPS challenge induced a strong stress response in Rideau-Dorset sheep that could be monitored with a distinct profile of circulatory biomarkers.

A variety of measures are currently used to evaluate feed efficiency in livestock, with some of the most popular being the linear regression of nutrient intake on the various energy sinks of the cohort being evaluated. The adoption of novel on-farm technologies has greatly increased the breadth and depth of data being collected on a daily basis, which creates the opportunity for the implementation of more advanced feed efficiency models. The objectives of the current study were to leverage data collected using high-throughput biometric technologies to evaluate changes of early-lactation feed efficiency on a daily basis and to develop a novel measure of feed efficiency based on the NRC net energy model. Daily records of nutrient intake, fat- and protein-corrected milk yield, body weight, and body condition score were used to model 7 different indices of feed efficiency (gross feed efficiency, return over feed costs, residual feed intake, residual net energy intake, and net energy efficiencies of lactation, maintenance, and body reserve flux) in primiparous Holstein heifers (n = 40) from 0 to 150 d in milk. We observed that feed efficiency was dynamic and fluctuated over the course of the experimental period regardless of the efficiency measure used, but most measures followed similar trends in changes of efficiency on a day-to-day basis. Of the measures evaluated, return over feed costs would be most suited for management purposes due to practicality and simplicity, whereas other measures, such as the efficiency of net energy flux to and from body reserves, present potential targets for inclusion in breeding goals. Net energy efficiency of lactation was estimated to have higher repeatability compared with residual feed or energy intake, which may reduce the time required to estimate whole-lactation efficiency. Because decreased net energy balance was strongly correlated with increased efficiency for all indices evaluated, future work investigating the associations of feed efficiency with the magnitude and duration of negative energy balance is warranted.

Regular changes in the environment and biological responses generate seasonal patterns in the reproduction in small ruminants. Breeding seasonality is a significant constraint impacting efficiency of lamb production. However, seasonality-related traits present a special peculiarity from a statistical point of view being circular data (day of year running 1:365). Recently, circular mixed models have been developed on the basis of the von Mises distribution and were applied to analyse lambing day distribution recorded from five major Canadian sheep breeds (Rideau Arcott, Romanov, Dorset, Suffolk and Polypay). In a simulation study, the linear model was not able to capture the variance components simulated under the circular paradigm; however, the von Mises model evidenced its ability to infer the variance components of simulated circular records. Using real data of sheep, mostly negligible variances were observed for additive genetic effect when using a linear model on circular data values. In contrast, when using the von Mises model, genetic variances were different across breeds, and it raises the possibility to delay the peak of reproduction and to change the seasonality of the ewes. However, a large variance was captured by flock-year effects emphasizing the strong influence of management in lambing seasons for Canadian sheep populations. Finally, the results suggest the potential of using the von Mises model to analyse circular data, and further research is needed for better understand the complexity of this trait and the von Mises models.

Made available in DSpace on 2022-05-01T15:46:16Z (GMT). No. of bitstreams: 0 Previous issue date: 2022-01-01 Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) The aim of this study was to identify mRNA isoforms and small genetic variants that may be affecting marbling and beef color in Nellore cattle. Longissimus thoracis muscle samples from 20 bulls with different phenotypes (out of 80 bulls set) for marbling (moderate (n = 10) and low (n = 10) groups) and beef color (desirable (n = 10) and undesirable (n = 9) group) traits were used to perform transcriptomic analysis using RNA sequencing. Fourteen and 15 mRNA isoforms were detected as differentially expressed (DE) (P-value ≤ 0.001) between divergent groups for marbling and meat color traits, respectively. Some of those DE mRNA isoforms have shown sites of splicing modified by small structural variants as single nucleotide variant (SNV), insertion, and/or deletion. Enrichment analysis identified metabolic pathways, such as O2/CO2 exchange in erythrocytes, tyrosine biosynthesis, and phenylalanine degradation. The results obtained suggest potential key regulatory genes associated with these economically important traits for the beef industry and for the consumer. School of Agricultural and Veterinarian Sciences São Paulo State University (Unesp), SP National Council for Scientific and Technological Development (CNPq) College of Veterinary and Animal Science São Paulo State University (Unesp), SP Centre for Genetic Improvement of Livestock Department of Animal Biosciences University of Guelph School of Agricultural and Veterinarian Sciences São Paulo State University (Unesp), SP College of Veterinary and Animal Science São Paulo State University (Unesp), SP

Fecal egg count (FEC) is an indicative measurement for parasite infection in sheep. Different FEC methods may show inconsistent results. Not accounting for inconsistencies can be problematic when integrating measurements from different FEC methods for genetic evaluation. The objectives of this study were to evaluate the difference in means and variances between two fecal egg counting methods used in sheep—the Modified McMaster (LMMR) and the Triple Chamber McMaster (LTCM); to estimate variance components for the two FEC methods, treating them as two different traits; and to integrate FEC data from the two different methods and estimate genetic parameters for FEC and other gastrointestinal parasite resistance traits. Fecal samples were collected from a commercial Rideau-Arcott sheep farm in Ontario. Fecal egg counting was performed using both LMMR and the LTCM methods. Other parasite resistance trait records were collected from the same farm including eye score (FAMACHA), body condition score (BCS), and body weight (WT). The two FEC methods were highly genetically (0.94) and phenotypically (0.88) correlated. However, the mean and variance between the two FEC methods were significantly different (P < 0.0001). Therefore, re-scaling is required prior to integrating data from the different methods. For the multiple trait analysis, data from the two fecal egg counting methods were integrated (LFEC) by using records for the LMMR when available and replacing missing records with re-standardized LTCM records converted to the same mean and variance of LMMR. Heritability estimates were 0.12 ± 0.04, 0.07 ± 0.05, 0.17 ± 0.06, and 0.24 ± 0.07 for LFEC egg count, FAMACHA, BCS, and WT, respectively. The estimated genetic correlations between FEC and the other parasite resistance traits were low and not significant (P > 0.05) for FAMACHA (r = 0.24 ± 0.32) and WT (r = 0.22 ± 0.19), and essentially zero for BCS (r = −0.03 ± 0.25), suggesting little to no benefit of using such traits as indicators for LFEC.

Although the genetic correlation between complex traits have been estimated for more than a century, only recently we have started to map and understand the precise localization of the genomic region(s) that underpin these correlations. Reproductive traits are often genetically correlated, and yet we don9t fully understand the complexities, synergism, or trade-offs between male and female fertility. In this study, we used reproductive traits in two cattle populations to develop a novel framework termed correlation scan. This framework was used to identify regions associated with the genetic correlations between male and female fertility traits across the bovine genome. The traits used were age at first corpus luteum (AGECL) and serum levels of insulin growth hormone (IGF1 measured in bulls, IGF1b, or cows, IGF1c). The methodology developed herein used correlations of 500-SNP (single nucleotide polymorphism) effects in a 100-SNPs sliding window in each chromosome to identify regions in the genome that either drive (i.e., SNP effects on the same direction) or antagonize (i.e., SNP effects in the opposite direction) the genetic correlations between traits. We used a permutation test to confirm which regions of the genome harboured significant correlations. Hence, this framework can also identify neutral genomic regions with no effect on the pairwise trait studied. About 40% of the total genomic regions were identified as driving and antagonizing genetic correlations between male and female fertility traits in the two population. These regions confirmed the polygenic nature of the traits being studied and pointed to genes of interest. Quantitative trait loci (QTL) and functional enrichment analysis revealed that many significant windows co-located with known QTLs related to milk production and fertility traits, especially puberty. In general, the enriched reproductive QTLs driving the genetic correlations between male and female fertility are the same for both cattle populations, while the antagonizing regions were population specific. Moreover, most of the antagonizing regions were mapped to the chromosome X. These results suggest regions of the chromosome X for further investigation into the trade-offs between male and female fertility. Although the methodology was applied to cattle phenotypes, using high-density SNP genotypes, the general framework developed can be applied to any species or traits, and it can easily accommodate genome sequence data.

Gastrointestinal nematode infection is one of the major production problems for sheep producers worldwide due its high incidence, morbidity, and mortality in affected flocks. The study of long non-coding RNA (lncRNA) in liver tissue of high (HIR) and low immune responder (LIR) sheep to GINs using RNA-Sequencing technology may provide a better understanding of the gene regulation mechanism associated with the host response to the infection. The aim of this study was to identify differentially expressed (DE) lncRNA between HIR and LIR natural infested sheep and control group. Liver tissue samples from the 13 divergent animals (out of a population of 211) based on their immunoglobulin G levels after vaccination using Hen Egg White (HEW) Lysozyme, and immature abomasum worm counts [HIR (> 4000) (n = 5), LIR (< 1500) (n=5) and control (no parasite challenge) (n=4) groups] were used to perform transcriptomic analysis using RNA-Sequencing. The “Large Gap read mapping “and “Transcript Discovery” tools from CLC Genomics Workbench 20.0.4 (CLC Bio, Aarhus, Denmark), were used to map reads to a reference genome (Oar_rambouillet_v1.0) and transcript discovery, respectively. The FEELnc software was used to identify, from predicted transcript model, potential lncRNAs and classify those transcripts into intro putative lncRNAs and protein coding RNAs. As preliminary results, 8 and 48 DE lncRNAs for HIR and LIR compared to control group were identified, respectively using an adjusted p-value False Discovery Rate (FDR) < 0.05 and Fold change (FC) abs > 2. Functional analyses using the list of DE lncRNAs identified metabolic pathways related to immune function. In depth analysis will help to better understand the physiological mechanisms of resilience of high immune sheep.

Crossbred beef steers, n = 5,140; 352 ± 5.45 kg initial body weight (BW) were used to evaluate chromium propionate supplementation to yearling steers in a commercial feedyard. Cattle were blocked by arrival date and initial BW and assigned randomly to pen within block; pens were randomly assigned to treatment within block. Treatments, replicated in 15 pens per treatment with 130 to 250 steers per pen, included: 1) control (CTL), 0 mg supplemental Cr/kg dietary dry matter (DM); 2) chromium (CR) 0.50 mg supplemental Cr/kg dietary DM (4.9 mg/d; chromium propionate; KemTRACE Chromium 0.4%, Kemin Industries, Des Moines, IA). Final BW, average daily gain (ADG) and gain efficiency (G:F) did not differ among treatments (P ≥ 0.26). Dry matter intake was greater for CR than CTL, 8.61 kg. vs. 8.49 kg, respectively (P = 0.03). Hot carcass weight (HCW), dressing percentage, ribeye area, and 12th-rib-fat were not different for CTL or CR (P ≥ 0.12). The percentage of carcasses camera grading choice or better was greater (P = 0.04) for CR (51.2%) than CTL (48%), and the percentage of select carcasses was less (P = 0.01) for CR (41.5%) than CTL (45.5%). Yield grade distribution did not differ among treatments (P ≥ 0.26). There was no difference (P ≥ 0.36) in overall morbidity (7.75%), or total mortality (1.43%) between treatments. Steers fed CR had higher quality carcasses, and similar G:F and HCW to CTL.

Parasitism by gastrointestinal nematodes (GINs) is a major source of morbidity and mortality for sheep flocks grazed on pasture. Since there is evidence for genetic resistance to GINs in some sheep breeds, genetic selection for immunologic resistance to GIN is a possible management strategy. This study sought to identify differences at the transcriptome level between Ridau-Arcott sheep characterized as high innate immune responders (IIRs, n=5) or high antibody-mediated immune responders (AbMIRs, n=5) following natural exposure to and infection with GINs after spending the summer on GIN-infested pasture; infection was confirmed with individual fecal egg counts. The transcriptomes of the high IIR and high AbMIR animals were also compared with GIN-naïve sheep of the same breed (all medium IIR and AbMIR responders, n = 7). Liver tissue samples from the 17 animals were used to perform transcriptomic analyses using RNA-Sequencing technology. The CLC Genomics Workbench 20.0.4 (CLC Bio, Aarhaus, Denmark) software was used to map reads to the most recent ovine reference genome (Oar rambouillet.v1.0.105), and for differential gene expression analysis. In total, 144 differentially expressed genes (DEG) were found between the high IIRs and the high AbMIRs (FDR< 0.05, and fold change (FC) abs > 2). When compared to the naïve animals, 136 and 53 DEG were found between them and the high IIRs and the high AbMIRs, respectively. In order to verify their function in the host immune response to GINs, functional enrichment analyses were performed on these candidate genes using the AmiGO2 software. Monocarboxilic acid metabolism was identified as an enriched biological process (FDR < 0.05), and ammonia-lyase activity and metalloendopeptidase activity were enriched molecular functions between the high IIR and high AbMIR animals (FDR < 0.05). These preliminary results improve understanding of how host resistance to GINs is genetically regulated through the innate and adaptive immune systems in sheep.

Realized deviations from the expected Mendelian inheritance of alleles from heterozygous parents have been previously reported in a broad range of organisms (i.e., transmission ratio distortion; TRD). Various biological mechanisms affecting gametes, embryos, fetuses, or even postnatal offspring can produce patterns of TRD. However, knowledge about its prevalence and potential causes in livestock species is still scarce. Specific Bayesian models have been recently developed for the analyses of TRD for biallelic loci, which accommodated a wide range of population structures, enabling TRD investigation in livestock populations. The parameterization of these models is flexible and allows the study of overall (parent-unspecific) TRD and sire- and dam-specific TRD. This research aimed at deriving Bayesian models for fitting TRD on the basis of haplotypes, testing the models for both haplotype- and SNP-based methods in simulated data and actual Holstein genotypes, and developing a specific software for TRD analyses. Results obtained on simulated data sets showed that the statistical power of the analysis increased with sample size of trios (n), proportion of heterozygous parents, and the magnitude of the TRD. On the other hand, the statistical power to detect TRD decreased with the number of alleles at each loci. Bayesian analyses showed a strong Pearson correlation coefficient (≥0.97) between simulated and estimated TRD that reached the significance level of Bayes factor ≥10 for both single-marker and haplotype analyses when n ≥ 25. Moreover, the accuracy in terms of the mean absolute error decreased with the increase of the sample size and increased with the number of alleles at each loci. Using real data (55,732 genotypes of Holstein trios), SNP- and haplotype-based distortions were detected with overall TRD, sire-TRD, or dam-TRD, showing different magnitudes of TRD and statistical relevance. Additionally, the haplotype-based method showed more ability to capture TRD compared with individual SNP. To discard possible random TRD in real data, an approximate empirical null distribution of TRD was developed. The program TRDscan v.1.0 was written in Fortran 2008 language and provides a powerful statistical tool to scan for TRD regions across the whole genome. This developed program is freely available at http://www.casellas.info/files/TRDscan.zip.

Heat stress negatively affects health and production in cows. Examining the cellular response to heat stress could reveal underlying protective molecular mechanisms associated with superior resilience and ultimately enable selection for more resilient cattle. This type of investigation is increasingly important as future predictions for the patterns of heat waves point to increases in frequency, severity, and duration. Cows identified as high immune responders based on High Immune Response technology (HIR) have lower disease occurrence compared to their average and low immune responder herd-mates. In this study, our goal was to identify epigenetic differences between high and low immune responder cows in response to heat stress. We examined genome-wide DNA methylation of blood mononuclear cells (BMCs) isolated from high and low cows, before and after in vitro heat stress. We identified differential methylation of promoter regions associated with a variety of biological processes including immune function, stress response, apoptosis, and cell signalling. The specific differentially methylated promoter regions differed between samples from high and low cows, and results revealed pathways associated with cellular protection during heat stress.

The aim of this study was to identify novel lncRNA differentially expressed (DE) between divergent animals for beef tenderness and marbling traits in Nellore cattle.

Pathogens induce neuroendocrine-immune interactions in their hosts, which are a basis to overcome the microbial stressor. These interactions result in individual variation of the hypothalamic-pituitary-adrenal (HPA) axis response and could contribute to variable stress resiliency. In present study, a comprehensive set of circulatory markers was assessed in variable stress responding lambs selected from a population (n = 112) and categorized based on cortisol levels as high (HSR, 336.2 ±27.9 nmol/L, n =12), middle (MSR, 147.3 ±9.5 nmol/L, n =12) and low (LSR, 32.1 ±10.4 nmol/L, n =12) responding phenotypes post LPS challenge (400 ng/kg iv). Blood was collected from the jugular vein at 0 (pre-) and 4 hrs post-LPS challenge to monitor changes in serum with a panel of 15 pro- and anti-inflammatory cytokines and chemokines and 84 miRNAs, and white blood cell (WBC) populations. The HSR had the strongest fever and pro-inflammatory IL-6, IFN-γ cytokine responses compared to MSR and LSR. HSR and MSR had stronger anti-inflammatory IL-10 cytokine and CCL2 chemokine responses than LSR. WBC counts changed between 0 and 4 hrs; however, no differences were detected among the variable stress response groups. Three miRNAs, oar-miR-485-5p (+3.82 folds), oar-miR-1193-5p (+2.43 folds) and oar-miR-3957-5p (+3.14 folds) were significantly (P < 0.05) upregulated, and seven miRNAs, oar-miR-376b-3p (-6.6 fold), oar-miR-376c-3p (3.5 folds), oar-miR-411b-5p (-11.69 folds), (oar-miR-376a-3p (-2.28 fold), oar-miR-376b-3p (-6.08 folds), oar-miR-376c-3p (-2.62 folds), oar-miR-381-3p (-3.85 folds) were downregulated (P < 0.05) in HSR compared to LSR and MSR. Functional analysis of miRNAs revealed their roles in activating TGF-beta signalling, Cytokine receptor interaction and Thyroid signalling pathways in HSR phenotypes indicating a hyper-induced acute-phase response. In summary, these results indicate variation in the acute-phase response to stress, and some of these markers could be used as stress biomarkers. Further investigation is warranted to understand the plausible association of cortisol phenotype with other important traits.

In the dairy industry, mate allocation is mainly based on the parents’ breeding values and inbreeding coefficients aiming to achieve the producer’s breeding goal. With artificial insemination, the portfolio of sires to choose from is large and the quality of the semen doses is standardized. However, not all sire-dam matings are equally likely to produce a successful pregnancy. Among other reproduction issues, the success of a mating could vary due to the incompatibility of gametes coming from the sire and the dam and could influence the fertilization’s success, additionally to the reproductive capacity of the parents. Considering the gametic incompatibility of the potential parents could be a novel option to improve mating plans. Under the hypothesis that gametic incompatibility has a significant effect on reproduction and reduces the odds of fertilization and pregnancy, this study aimed to determine the genetic background of gametic incompatibility. Transmission ratio distortion (TRD), which detects deviations from Mendelian inheritance expectations, is commonly used to identify deleterious mutations. We adapted the TRD model by including an interaction effect between the gametes leading to the offspring genotype to detect regions with TRD effects and gametic incompatibility. Our dataset contained 436,651 genotyped (50K SNP) Canadian Holstein cattle from 283,817 parents-offspring trios. A total of 482 regions with TRD containing 671 positional genes were found. The functional analysis detected biological pathways associated with uterus development, embryonic skeletal system development, and nervous system development. Additionally, gene ontology terms from the topology-based pathway enrichment analysis were mostly related to the steroid hormones signalling pathway. Although difficult, genes specific to gametic incompatibility could be differentiated from genes underlying other reproduction processes by refining the genetic regions with TRD. With further investigation, we will provide new information to improve mate allocation for the dairy cattle industry.

Reduced fertility is one of the main causes of economic losses in dairy farms. The cost of a stillbirth is estimated in US$ 938 per case in Holstein herds. Machine learning (ML) is gaining popularity in the livestock sector as a mean to identify hidden patterns and due to its potential to address dimensionality problems. Here we investigate the application of ML algorithms for the prediction of cows with higher stillbirth susceptibility in two scenarios: cows with >25% and >33.33% of stillbirths among birth records. These thresholds correspond to percentiles 75 (still_75) and 90 (still_90), respectively. A total of 10,570 cows and 50,541 birth records were collected to perform a haplotype-based genome-wide association study. Five-hundred significant pseudo single nucleotide polymorphisms (pseudo-SNPs) (False-Discovery Rate< 0.05) were used as input features of ML-based predictions to determine if the cow is in the top-75 and top-90 percentiles. Table 1 shows the classification performance of the investigated ML and linear models. The ML models outperformed linear models for both thresholds. In general, still_75 showed higher F1 values compared to still_90, suggesting a lower misclassification ratio when a less stringent threshold is used. We observe that accuracy of the models in our study is higher when compared to ML-based prediction accuracies in other breeds, e.g. compared to the accuracies of 0.46 and 0.67 that were achieved using SNPs for body weight in Brahman and fertility traits in Nellore, respectively. Xgboost algorithm shows the highest balanced accuracy (BA; 0.625), F1-score (0.588) and area under the curve (AUC; 0.688), suggesting that xgboost can achieve the highest predictive performance and the lowest difference in misclassification ratio between classes. The ML applied over haplotype libraries is an interesting approach for the detection of animals with higher susceptibility to stillbirths due to highest predictive accuracy and relatively lower misclassification ratio.

For the dairy industry, animal welfare and economic viability are key factors in determining the long-term sustainability of the industry. One challenge in lactating dairy cows is mastitis, as there are significant costs associated with each mastitis case due to treatment, milk loss, and potential cow culling. Differentially expressed (DE) genes, DE mRNA isoforms and DE long non-coding RNA (lncRNA) candidates were previously identified by our group between healthy and mastitic samples from six Holstein dairy cows. In total, 7 candidate genes, 5 mRNA isoforms and 4 lncRNA were targeted as they play an important role due to their association with mastitis or the immune system. The aim of the current research is to identify new structural variants in the transcriptome of these previously identified potential candidates using RNA-Sequencing. These structural variants could occur in both coding and intergenic regions of the genome and potentially impact the amino acid that is transcribed, creating a new functional or non-functional protein. In addition, whole genome sequencing (WGS) analysis was performed using hair samples collected from ten Holstein dairy cows (first lactation). Five of these animals had no previous reports of mastitis and five animals had at least one report of mastitis in her lifespan. The WGS results will be used to identify additional structural variants, especially within introns, of the previously identified candidates that could cause a genetic variation in individuals and an association to their susceptibility to mastitis disease.

Transmission ratio distortion (TRD) is a process when one allele from either parent is preferentially transmitted to the offspring. The identification of genomic regions affected by TRD might help in the detection of lethal alleles or potential genes affecting reproduction. Here, we investigated TRD in crossbreed beef cattle population aiming to identify genomic regions showing altered deviations in segregation that could be affecting reproduction performance. A total of 237 genotyped animals were used including 46 sires, 80 dams, and 111 parent-offspring (trios). The predominant breeds of these animals were Angus (61.83%), Simmental (18.99%), Gelbvieh (6.12%), Charolais (3.65%), Hereford (2.46%) and Limousin (1.57%). After excluding SNPs with minor allele frequency lower than 0.05 and call-rate lower than 0.90, a total of 369,902 autosomal SNPs were retained for further analyses. The SNP-by-SNP analysis was performed within a Bayesian framework using TRDscanv.2.0 software, using 100,000 iterations, with 10,000 iterations being discarded as burn-in. As table 1 shows, 33 SNPs were identified with TRD, considering a Bayes Factor (BF)≥100 and the approximate empirical null distribution of TRD at 0.01% margin error. Among them, 26 SNPs were parent-unspecific and 7 SNPs were parent-specific TRD. For parent-specific TRD, 214 were identified for sire- and 162 for dam-TRD (BF≥100). Among them, 4 SNPs were detected with sire- and dam-TRD in opposite direction of preference of transmission. Preliminary functional and positional analysis was performed using the list of TRD regions with BF≥100 and the approximate empirical null distribution of TRD at 0.01% margin error. For sire-TRD, 14% of the identified QTL (n = 254) were related to non-return rate. For dam-TRD, 21 regions related to conception rate were found (1.5%) and 13 regions related to stillbirth (0.93%). Haplotype analysis is in progress to identify additional candidate regions and alleles with TRD to better understand this phenomenon in a crossbreed beef population.

Genetically selecting animals that are heat tolerant can help to maintain production efficiency of the dairy industry under thermal challenges. During the summer months in Canada, dairy cows could be under thermal stress. For instance, in Ontario, cows are expected to be 105 days under thermal stress. The objective of this study was to estimate genetic parameters for milk production traits under heat stress in Canadian Holstein cows. A total of 604,050 test-day records for milk, fat, and protein yields from 78,516 first-lactation Holstein cows were used in this study. The production data was combined with daily maximum temperature-humidity index (THI; ranging from 30 to 83) calculated based on meteorological records from public weather stations. In total, 58 weather stations were located within a maximum distance of 20 km from each of the 1,284 herds included in this study. Single-trait random regressions on THI, fitting linear splines to describe the random additive genetic and permanent environmental effects, were used in the genetic analyses. Based on preliminary analyses, the knots of the spline functions were set to THI = 70, 57, and 58 for milk, fat, and protein yields, respectively. Therefore, the models assumed a linear effect of heat stress beyond the THI threshold, allowing to estimate the additive genetic effect under thermal comfort and at different levels of heat stress. The genetic correlations estimated between thermal comfort and heat stress were -0.09, -0.33, and -0.21 for milk, fat, and protein yields, respectively. This indicates an antagonistic relationship between level of production and heat tolerance. However, small differences in heritability estimates were observed above the THI thresholds (they ranged from 0.20 to 0.22 for milk, 0.18 to 0.15 for fat, and 0.14 to 0.15 for protein yields). This study demonstrates the possibility of genetically selecting for more heat-tolerant animals in Canada.

Ruminant supply chains contribute 5.7 gigatons of CO2-eq per annum, which represents approximately 80% of the livestock sector emissions. One of the largest sources of emission in the ruminant sector is methane (CH4), accounting for approximately 40% of the sectors total emissions. With climate change being a growing concern, emphasis is being put on reducing greenhouse gas emissions, including those from ruminant production. Various genetic and environmental factors influence cattle CH4 production, such as breed, genetic makeup, diet, management practices, and physiological status of the host. The influence of genetic variability on CH4 yield in ruminants indicates that genomic selection for reduced CH4 emissions is possible. Although the microbiology of CH4 production has been studied, further research is needed to identify key differences in the host and microbiome genomes and how they interact with one another. The advancement of “-omics” technologies, such as metabolomics and metagenomics, may provide valuable information in this regard. Improved understanding of genetic mechanisms associated with CH4 production and the interaction between the microbiome profile and host genetics will increase the rate of genetic progress for reduced CH4 emissions. Through a systems biology approach, various “-omics” technologies can be combined to unravel genomic regions and genetic markers associated with CH4 production, which can then be used in selective breeding programs. This comprehensive review discusses current challenges in applying genomic selection for reduced CH4 emissions, and the potential for “-omics” technologies, especially metabolomics and metagenomics, to minimize such challenges. The integration and evaluation of different levels of biological information using a systems biology approach is also discussed, which can assist in understanding the underlying genetic mechanisms and biology of CH4 production traits in ruminants and aid in reducing agriculture’s overall environmental footprint.

Genetic selection for improved feed efficiency in dairy cattle has received renewed attention over the last decade to address the needs of a growing global population. As milk yield is a critical component of feed efficiency metrics in dairy animals, our objective was to evaluate the associations between feed efficiency in primiparous Holstein cattle and parameters of a mathematical model describing individual lactation curves. The Dijkstra lactation curve model was fit to individual lactation records from 34 Holstein heifers with previously estimated measures of feed efficiency. We found that the optimal fit of the Dijkstra model was achieved using daily milk yield records up to 21 d in milk to capture the rise to peak milk yield and using monthly dairy herd improvement records for the remainder of lactation to accurately characterize lactation persistency. In the period of lactation before peak milk yield, improved feed efficiency was associated with a faster increase in daily milk yield over a shorter period of time at the expense of increased mobilization of body reserves; this serves to reinforce the concept that dairy cattle are primarily capital breeders versus income breeders. Feed efficiency in the period following peak lactation, as measured by gross feed efficiency, return over feed costs, and net energy efficiency of lactation, was positively associated with higher peak milk yield. The findings in early lactation suggest that estimates of feed efficiency could be improved by evaluating feed efficiency relative to conception, rather than parturition and lactation, to better account for the energy stored and released from body reserves in capital breeding.

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

The beef tenderization process during the post-mortem period is one of the most important sensorial attributes and it is well-established. The aim of this study was to identify the genetic contribution pattern to meat tenderness at 7-(LMD7), 14-(LMD14), and 21-(LMD21) days post-mortem. The heritabilities for LMD7 (0.194), LMD14 (0.142) and LMD21 (0.048) are well established in the population evaluated here. However, its genetic contribution in terms of genomic candidate regions is still poorly understood. Tenderness was measured in the Longissiums thoracis using Warner-Bratzler shear force in the three post-mortem periods. A total of 4323 crossbred beef cattle were phenotyped and genotyped using the Illumina BovineSNP50K. The percentage of the total genetic variance was estimated using the weighted single-step genomic best linear unbiased prediction method. The main candidate windows for LMD7 were associated with proteolysis of myofibrillar structures and the weakening endomysium and perimysium. Candidate windows for LMD14 and LMD21 were mapped in bovine QTLs for body composition, height and growth. Results presented herein highlight, the largest contribution of proteolysis related processes before 14-days post-mortem and body composition characteristics in later stages for meat tenderness.

Fecal egg count (FEC) is an indicative measurement for parasite infection in sheep. Different FEC methods may show inconsistent results. Not accounting for inconsistencies can be problematic when integrating measurements from different FEC methods for genetic evaluation. The objectives of this study were to: evaluate the difference between two FEC methods, the Modified McMaster (LMMR) and the Triple Chamber McMaster (LTCM); estimate the genetic and phenotypic correlations between records from two methods; and estimate genetic parameters for FEC and other gastrointestinal parasite resistance traits. A total of 1,676 fecal samples were collected from a commercial sheep farm between 2012 and 2019. Fecal egg counting was performed using the Modified McMaster (n = 998) and the Triple Chamber McMaster (n = 678) methods. Other parasite resistance trait records were collected from the same farm including eye score (FAMACHA©), body condition score (BCS), and body weight (WT). The mean and variance between the two FEC methods were significantly different (P < 0.0001), but phenotypic and genetic correlations between them were high (0.88 and 0.94, respectively). Therefore, pre-adjustment is required prior to integrating data from the different methods. For multiple trait analysis with other parasite resistance traits, data from the two fecal egg counting methods were integrated (LFEC) by using records for the LMMR when available and replacing missing records with standardized LTCM records for mean and variance of LMMR. Heritability estimates were 0.12, 0.07, 0.17, and 0.24, for LFEC, FAMACHA©, BCS, and the WT, respectively. Estimated genetic correlations between fecal egg count and the other parasite resistance traits were low with FAMACHA© (0.24), BCS (-0.03), and WT (0.22), suggesting little to no benefit of using such traits as indicators for LFEC.

Development of ketosis in high-producing dairy cows contributes to animal health issues and highlights the need for better understanding the genetic basis of metabolic diseases. Thus, the aim of this study was to evaluate the pattern of differential gene expression in liver of cows under negative energy balance (NEB), subclinical, and clinical ketosis through a systematic review and meta-analysis of published gene expression and genome-wide association studies (GWAS) results. After screening of the 118 articles found in the systematic review, 20 articles were included in the analysis. For this, 430 significant SNPs identified by GWAS were investigated to see if they were located within genes reported in gene expression studies. A permutation approach was used to identify the biological pathways associated with the metabolic conditions studied. A gene network was created using the differentially expressed genes harboring significant SNPs and a QTL enrichment analysis was performed to identify potential positional candidate loci. This study revealed 14 genes that are differentially expressed in the liver of cows in different metabolic conditions, which harbor 24 significant polymorphisms in reported GWAS. Three significant metabolic pathways were associated with NEB, subclinical and clinical ketosis. In addition, two important genes, PPARA and ACACA, were identified as differentially expressed in the three metabolic conditions. Gene network analysis revealed co-expression interactions among 34 genes associated with functions involving fatty acid transport and metabolism. The genes FN1 and PTK2 were enriched for QTL previously associated with the trait “ketosis” on chromosome 2 and with the trait “milk iron content” on chromosome 14, respectively. These findings improve the understanding of negative energy balance and ketosis in dairy cows, which could enhance selection for cows less susceptible to ketosis and help with the development of potential biomarkers for early diagnosis and prevention of ketosis.

Pregnancy failure in dairy cattle appears to be attributable to losses during embryogenesis, mainly within the first month. Models have estimated that pregnancies lost after day 30 of fertilization cost producers US $550/cow. The reasons for these losses are not well understood, and the transcriptome profile of the reproductive tract during the establishment of pregnancy may point to mechanisms. Thirty-eight cows in lactations 1 to 3 were artificially inseminated, and endometrial biopsies were collected on day 15 after artificial insemination to investigate the effect of parity on the preimplantation pregnancy outcome. Pregnancy status was determined by the presence of interferon-tau in the uterine flushing, revealing 19 pregnant (P) and 19 non-pregnant (NP) cows. Nineteen biopsy samples [9 cows in lactation 1 (6 P and 3 NP), 4 in lactation 2 (2 P and 2 NP), and 6 in lactation 3 (3P and 3NP)] with an average RNA integrity number of 7 were selected for RNA sequencing with an Illumina HiSeq analyzer. Sequence reads were assembled to the ARS_USD1.2.99 bovine reference genome using the CLC genomics workbench software. On average, the samples generated ~56 million reads and 94.99% were mapped to the reference genome. Differential gene expression analysis between P and NP cows identified 187, 60, and 136 differentially expressed genes (DEG) in lactation 1, 2 and 3, respectively (P < 0.01, FDR < 0.05, FC > ±2). Metabolic pathway enrichment analysis identified several DEG upregulated in lactations 2 and 3 associated with IL-17 signaling pathway, although expression of IL-17 itself was not different. This pathway is part of the protective response against extracellular bacteria and likely participates in pregnancy maintenance through local regulation of immune function. Further functional genomic analyses will be performed to determine additional metabolic pathways, key regulator genes, and functional SNPs associated with the establishment of pregnancy.

Fertility plays a key role in the success of calf production, but there is evidence that reproductive efficiency in beef cattle has decreased during the past half-century worldwide. Therefore, identifying animals with superior fertility could significantly impact cow-calf production efficiency. The objective of this research was to identify candidate regions affecting bull fertility in beef cattle and positional candidate genes annotated within these regions. A GWAS using a weighted single-step genomic BLUP approach was performed on 265 crossbred beef bulls to identify markers associated with scrotal circumference (SC) and sperm motility (SM). Eight windows containing 32 positional candidate genes and five windows containing 28 positional candidate genes explained more than 1% of the genetic variance for SC and SM, respectively. These windows were selected to perform gene annotation, QTL enrichment, and functional analyses. Functional candidate gene prioritization analysis revealed 14 prioritized candidate genes for SC of which MAP3K1 and VIP were previously found to play roles in male fertility. A different set of 14 prioritized genes were identified for SM and five were previously identified as regulators of male fertility (SOD2, TCP1, PACRG, SPEF2, PRLR). Significant enrichment results were identified for fertility and body conformation QTLs within the candidate windows. Gene ontology enrichment analysis including biological processes, molecular functions, and cellular components revealed significant GO terms associated with male fertility. The identification of these regions contributes to a better understanding of fertility associated traits and facilitates the discovery of positional candidate genes for future investigation of causal mutations and their implications.

Host&ndash, pathogen interactions are complex and influenced by host genetic and epigenetic modifications. Recently, the significance of microRNAs (miRNAs) in pathogenic infection and the regulation of immune response has been highlighted. However, information on miRNAs&rsquo, role in the course of inflammation is still very limited in small ruminants. The present study was intended to identify changes in the expression of circulatory miRNAs post-lipopolysaccharide (LPS)-challenge. In this study, young ewes (n = 18) were challenged with Escherichia coli LPS (400 ng/kg i.v.) and blood samples were collected for serum miRNA isolation at two-time points, prior to challenge (T0), and 4 h (T4) post-challenge, reflecting the peak cortisol response. A total of 91 miRNAs were profiled, including 84 miRNAs on a commercial ovine miRNA-PCR array, and seven individual miRNAs. Forty five miRNAs were differentially expressed (DE) with 35 being up-regulated (Fold regulation, FR &gt, 2) and 10 being down-regulated (FR &lt, 1, p &lt, 0.05) at T4. Among the up-regulated miRNAs, 14 were significantly (p &lt, 0.05) induced, including oar-miRs: 369-3p, 495-3p, 376a-3p, 543-3p, 668-3p, 329a-3p, 655-3p, 411a-5p, and 154a-3p, which were located on ovine chromosome 18 forming four miRNA clusters within 10 kb. The elevated miRNAs belonged to different functional classes, playing roles in activating the hypothalamic-pituitary-adrenal axis, increasing cell survival and differentiation, and inducing inflammatory responses and targeted PI3K-Akt and MAPK signaling and chemokine signaling pathways. In summary, these results reveal the dynamic nature of ovine serum miRNAs during LPS-induced stress and highlight the potential role of identified miRNA-clusters on chromosome 18 to understand the regulation of the acute-phase response. Some of these identified circulating miRNAs may also serve as stress biomarkers for livestock in the future.

Transmission ratio distortion (TRD) is defined as the observed deviation from the expected Mendelian inheritance of alleles from heterozygous parents. This phenomenon is attributed to various biological mechanisms acting on germ cells, embryos or fetuses, or even in early postnatal life. Current statistical approaches typically use two independent parametrizations assuming that TRD relies on allele- or genotype-related mechanisms, although they have never been tested and compared. This study compared allele- and genotype-related TRD models on simulated datasets with 1000 genotyped offspring and real data from 168 sire-dam-offspring beef cattle trios. The analysis of simulated datasets favored the true model of analysis in most cases (>93%), and a low percentage of missidentification occurred under (almost) null dominance (genotype-related model) or similar and moderate-to-low sire- and dam-specific TRD parameters (allele-related model). Moreover, the correlation between simulated and predicted distortion parameters was high (>0.97) under the true model. The comparison of allele- and genotype-related TRD models is an appealing tool to infer the biological source of TRD (i.e. haploid vs. diploid cells) when screening the whole genome. The analysis of beef cattle data corroborated a TRD region previously reported in chromosome 4, although discarding allele-related mechanisms and favoring the genotype-related model as the more reliable one. The results of this study highlight the relevance of implementing and comparing different parametrizations to capture all kinds of TRD, and to compare them using appropriate statistical methods.

BackgroundThe development of high-throughput sequencing and genotyping methodologies has enabled the identification of thousands of genomic regions associated with several complex traits. The integration of multiple sources of biological information is a crucial step required to better understand patterns regulating the development of these traits.FindingsGenomic Annotation in Livestock for positional candidate LOci (GALLO) is an R package developed for the accurate annotation of genes and quantitative trait loci (QTLs) located in regions identified in common genomic analyses performed in livestock, such as genome-wide association studies and transcriptomics using RNA sequencing. Moreover, GALLO allows the graphical visualization of gene and QTL annotation results, data comparison among different grouping factors (e.g., methods, breeds, tissues, statistical models, studies), and QTL enrichment in different livestock species such as cattle, pigs, sheep, and chickens.ConclusionsConsequently, GALLO is a useful package for annotation, identification of hidden patterns across datasets, and data mining previously reported associations, as well as the efficient examination of the genetic architecture of complex traits in livestock.

Made available in DSpace on 2020-12-12T02:39:48Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-07-01 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) The myofibrillar fragmentation index (MFI) is an indicative trait for meat tenderness. Longissimus thoracis muscle samples from the 20 most extreme bulls (out of 80 bulls set) for MFI (high (n = 10) and low (n = 10) groups) trait were used to perform transcriptomic analysis, using RNA Sequencing (RNA-Seq). An average of 24.616 genes was expressed in the Nellore muscle transcriptome analysis. A total of 96 genes were differentially expressed (p value ≤ 0.001) between the two groups of divergent bulls for MFI. The HEBP2 and BDH1 genes were overexpressed in animals with high MFI. The MYBPH and MYL6, myosin encoders, were identified. The differentially expressed genes were related to increase mitochondria efficiency, especially in cells under oxidative stress conditions, and these also were related to zinc and calcium binding, membrane transport, and muscle constituent proteins, such as actin and myosin. Most of those genes were involved in metabolic pathways of oxidation-reduction, transport of lactate in the plasma membrane, and muscle contraction. This is the first study applying MFI phenotypes in transcriptomic studies to identify and understand differentially expressed genes for beef tenderness. These results suggest that differences detected in gene expression between high and low MFI animals are related to reactive mechanisms and structural components of oxidative fibers under the condition of cellular stress. Some genes may be selected as positional candidate genes to beef tenderness, MYL6, MYBPH, TRIM63, TRIM55, TRIOBP, and CHRNG genes. The use of MFI phenotypes could enhance results of meat tenderness studies. School of Agricultural and Veterinarian Sciences São Paulo State University (Unesp) Department of Animal Biosciences Centre for Genetic Improvement of Livestock University of Guelph APTA Beef Cattle Center Animal Science Institute National Council for Scientific and Technological Development (CNPq) College of Veterinary and Animal Science São Paulo State University (Unesp) School of Agricultural and Veterinarian Sciences São Paulo State University (Unesp) College of Veterinary and Animal Science São Paulo State University (Unesp) FAPESP: # 09/16118-5 FAPESP: #17/04270-3 FAPESP: #18/11154-2