BackgroundIn recent years, there has been increased interest in the study of the molecular processes that affect semen traits. In this study, our aim was to identify quantitative trait loci (QTL) regions associated with four semen traits (motility, progressive motility, number of sperm cells per ejaculate and total morphological defects) in two commercial pig lines (L1: Large White type and L2: Landrace type). Since the number of animals with both phenotypes and genotypes was relatively small in our dataset, we conducted a weighted single-step genome-wide association study, which also allows unequal variances for single nucleotide polymorphisms. In addition, our aim was also to identify candidate genes within QTL regions that explained the highest proportions of genetic variance. Subsequently, we performed gene network analyses to investigate the biological processes shared by genes that were identified for the same semen traits across lines.ResultsWe identified QTL regions that explained up to 10.8% of the genetic variance of the semen traits on 12 chromosomes in L1 and 11 chromosomes in L2. Sixteen QTL regions in L1 and six QTL regions in L2 were associated with two or more traits within the population. Candidate genes SCN8A, PTGS2, PLA2G4A, DNAI2, IQCG and LOC102167830 were identified in L1 and NME5, AZIN2, SPATA7, METTL3 and HPGDS in L2. No regions overlapped between these two lines. However, the gene network analysis for progressive motility revealed two genes in L1 (PLA2G4A and PTGS2) and one gene in L2 (HPGDS) that were involved in two biological processes i.e. eicosanoid biosynthesis and arachidonic acid metabolism. PTGS2 and HPGDS were also involved in the cyclooxygenase pathway.ConclusionsWe identified several QTL regions associated with semen traits in two pig lines, which confirms the assumption of a complex genetic determinism for these traits. A large part of the genetic variance of the semen traits under study was explained by different genes in the two evaluated lines. Nevertheless, the gene network analysis revealed candidate genes that are involved in shared biological pathways that occur in mammalian testes, in both lines.Electronic supplementary materialThe online version of this article (10.1186/s12711-018-0412-z) contains supplementary material, which is available to authorized users.

Heat stress is an important issue in the global dairy industry. In tropical areas, an alternative to overcome heat stress is the use of crossbred animals or synthetic breeds, such as the Girolando. In this study, we performed a genome-wide association study (GWAS) and post-GWAS analyses for heat stress in an experimental Gir × Holstein F 2 population. Rectal temperature (RT) was measured in heat-stressed F 2 animals, and the variation between 2 consecutive RT measurements (ΔRT) was used as the dependent variable. Illumina BovineSNP50v1 BeadChip (Illumina Inc., San Diego, CA) and single-SNP approach were used for GWAS. Post-GWAS analyses were performed by gene ontology terms enrichment and gene-transcription factor (TF) networks, generated from enriched TF. The breed origin of marker alleles in the F 2 population was assigned using the breed of origin of alleles (BOA) approach. Heritability and repeatability estimates (± standard error) for ΔRT were 0.13 ± 0.08 and 0.29 ± 0.06, respectively. Association analysis revealed 6 SNP significantly associated with ΔRT. Genes involved with biological processes in response to heat stress effects (LIF, OSM, TXNRD2, and DGCR8) were identified as putative candidate genes. After performing the BOA approach, the 10% of F 2 animals with the lowest breeding values for ΔRT were classified as low-ΔRT, and the 10% with the highest breeding values for ΔRT were classified as high-ΔRT. On average, 49.4% of low-ΔRT animals had 2 alleles from the Holstein breed (HH), and 39% had both alleles from the Gir breed (GG). In high-ΔRT animals, the average proportion of animals for HH and GG were 1.4 and 50.2%, respectively. This study allowed the identification of candidate genes for ΔRT in Gir × Holstein crossbred animals. According to the BOA approach, Holstein breed alleles could be associated with better response to heat stress effects, which could be explained by the fact that Holstein animals are more affected by heat stress than Gir animals and thus require a genetic architecture to defend the body from the deleterious effects of heat stress. Future studies can provide further knowledge to uncover the genetic architecture underlying heat stress in crossbred cattle.

We aimed to estimate genetic parameters for semen quality and quantity traits as well as for within-boar variation of these traits to evaluate their inclusion in breeding goals. Genetic parameters were estimated within line using a multiple-trait (4 × 4) repeatability animal model fitted for 5 pig lines, considering 4 semen traits: sperm motility (MOT), sperm progressive motility (PROMOT), log-transformed number of sperm cells per ejaculate (lnN), and total morphological abnormalities (ABN). The within-boar variation of these traits was analyzed based on a multiple-trait (2 × 2) approach for SD and average (AVG) and a single-trait analysis for CV. The average heritabilities across the 5 lines estimated by multiple-trait analysis were 0.18 ± 0.07 (MOT), 0.22 ± 0.08 (PROMOT), 0.16 ± 0.04 (lnN), and 0.20 ± 0.04 (ABN). The average genetic correlations were favorable between MOT and PROMOT (0.86 ± 0.10), between MOT and ABN (-0.66 ± 0.25), and between PROMOT and ABN (-0.65 ± 0.25). As determined by within-boar variation analysis, AVG exhibited the greatest heritabilities followed by SD and CV, respectively, for the traits MOT and ABN. For PROMOT, average SD heritability was lower than CV heritability, whereas for lnN, they were the same. The average genetic correlations between AVG and SD were favorable for MOT (-0.60 ± 0.13), PROMOT (-0.79 ± 0.14), and ABN (0.78 ± 0.17). The moderate heritabilities indicate the possibility of effective selection of boars based on semen traits. Average and SD are proposed as appropriate traits for selection regarding uniformity.

Breeding and geneticsFull-length research article Genetic study of litter size and litter uniformity in Landrace pigs ABSTRACT -We aimed to estimate litter size and litter uniformity genetic parameters and genetic trends of Landrace pigs at birth and at three weeks by using multitrait analyses for 2,787 litters. The following litter traits were evaluated: number of piglets born alive (NBA), within-litter weight mean at birth (MBW), within-litter weight standard deviation at birth (SDB), within-litter weight coefficient of variation at birth (CVB), number of piglets at three weeks (NT), within-litter weight mean at three weeks (MT), within-litter weight standard deviation at three weeks (SDT), and within-litter weight coefficient of variation at three weeks (CVT). Heritability estimates for NBA, MBW, SDB, and CVB were 0.09±0.04, 0.31±0.08, 0.01±0.04, and 0.07±0.05, respectively, greater than those obtained at three weeks (0.06±0.04, 0.10±0.06, 0.01±0.04, and 0.02±0.04 for NT, MT, SDT, and CVT, respectively). The genetic correlations between NBA and MBW and between MBW and CVB (−0.73±0.20 and −0.93±0.21, respectively) were of moderate to high magnitudes, as well as the genetic correlations between CVT and SDT (0.85±0.39). Genetic correlations between MBW and MT, SDB and SDT, CVB and CVT, and NBA and NT were 0.73±0.16, 0.69±0.54, 0.36±0.80, and 0.95±0.06, respectively. The genetic trends were linear for NBA and CVB and quadratic for MBW and SDB, whereas for all traits at three weeks, they were close to zero. Within-litter weight coefficient of variation (CV) may be the most appropriate variation measure for application in breeding programs, especially at birth, due to its greater heritability estimate and high and negative genetic correlation with MBW. The genetic trends show that NT does not follow the increase in NBA, emphasizing the need to review the breeding goals.

As crossbreeding is extensively used in some livestock species, we aimed to evaluate the performance of single-step GBLUP (ssGBLUP) and weighted ssGBLUP (WssGBLUP) methods to predict Genomic Estimated Breeding Values (GEBVs) of crossbred animals. Different training population scenarios were evaluated: (SC1) ssGBLUP based on a single-trait model considering purebred and crossbred animals in a joint training population; (SC2) ssGBLUP based on a multiple-trait model to enable considering phenotypes recorded in purebred and crossbred training animals as different traits; (SC3) WssGBLUP based on a single-trait model considering purebred and crossbred animals jointly in the training population (both populations were used for SNP weights' estimation); (SC4) WssGBLUP based on a single-trait model considering only purebred animals in the training population (crossbred population only used for SNP weights' estimation); (SC5) WssGBLUP based on a single-trait model and the training population characterized by purebred animals (purebred population used for SNP weights' estimation). A complex trait was simulated assuming alternative genetic architectures. Different scaling factors to blend the inverse of the genomic (G −1 ) and pedigree (A −1 22 ) relationship matrices were also tested. The predictive performance of each scenario was evaluated based on the validation accuracy and regression coefficient. The genetic correlations across simulated populations in the different scenarios ranged from moderate to high (0.71-0.99). The scenario mimicking a completely polygenic trait (h 2 QTL = 0) yielded the lowest validation accuracy (0.12; for SC3 and SC4). The simulated scenarios assuming 4,500 QTLs affecting the trait and h 2 QTL = h 2 resulted in the greatest GEBV accuracies (0.47; for SC1 and SC2). The regression coefficients ranged from 0.28 (for SC3 assuming polygenic effect) to 1.27 (for SC2 considering 4,500 QTLs). In general, SC3 and SC5 resulted in inflated GEBVs, whereas other scenarios yielded deflated GEBVs. The scaling factors used to combine G −1 and A −1 22 had a small influence on the validation accuracies, but a greater effect on the regression coefficients. Due to the complexity of multiple-trait models Alvarenga et al. ssGBLUP Approaches for Crossbred Evaluation and WssGBLUP analyses, and a similar predictive performance across the methods evaluated, SC1 is recommended for genomic evaluation in crossbred populations with similar genetic structures [moderate-to-high (0.71-0.99) genetic correlations between purebred and crossbred populations].