Evaluation of the phenotypic and genomic background of variability based on litter size of Large White pigs

Background The genetic background of trait variability has captured the interest of ecologists and animal breeders because the genes that control it could be involved in buffering various environmental effects. Phenotypic variability of a given trait can be assessed by studying the heterogeneity of the residual variance, and the quantitative trait loci (QTL) that are involved in the control of this variability are described as variance QTL (vQTL). This study focuses on litter size (total number born, TNB) and its variability in a Large White pig population. The variability of TNB was evaluated either using a simple method, i.e. analysis of the log-transformed variance of residuals (LnVar), or the more complex double hierarchical generalized linear model (DHGLM). We also performed a single-SNP (single nucleotide polymorphism) genome-wide association study (GWAS). To our knowledge, this is only the second study that reports vQTL for litter size in pigs and the first one that shows GWAS results when using two methods to evaluate variability of TNB: LnVar and DHGLM. Results Based on LnVar, three candidate vQTL regions were detected, on Sus scrofa chromosomes (SSC) 1, 7, and 18, which comprised 18 SNPs. Based on the DHGLM, three candidate vQTL regions were detected, i.e. two on SSC7 and one on SSC11, which comprised 32 SNPs. Only one candidate vQTL region overlapped between the two methods, on SSC7, which also contained the most significant SNP. Within this vQTL region, two candidate genes were identified, ADGRF1, which is involved in neurodevelopment of the brain, and ADGRF5, which is involved in the function of the respiratory system and in vascularization. The correlation between estimated breeding values based on the two methods was 0.86. Three-fold cross-validation indicated that DHGLM yielded EBV that were much more accurate and had better prediction of missing observations than LnVar. Conclusions The results indicated that the LnVar and DHGLM methods resulted in genetically different traits. Based on their validation, we recommend the use of DHGLM over the simpler method of log-transformed variance of residuals. These conclusions can be useful for future studies on the evaluation of the variability of any trait in any species.

The light response in chickens divergently selected for feather pecking behavior reveals mechanistic insights towards psychiatric disorders

Background Feather pecking is a serious behavioral disorder in chickens that has a considerable impact on animal welfare and poses an economic burden for poultry farming. To study the underlying genetics of feather pecking animals were divergently selected for feather pecking over 15 generations based on estimated breeding values for the behavior. Methods and results By characterizing the transcriptomes of whole brains isolated from high and low feather pecking chickens in response to light stimulation we discovered a putative dysregulation of micro RNA processing caused by a lack of Dicer1. This results in a prominent downregulation of the GABRB2 gene and other GABA receptor transcripts, which might cause a constant high level of excitation in the brains of high feather pecking chickens. Moreover, our results point towards an increase in immune system-related transcripts that may be caused by higher interferon concentrations due to Dicer1 downregulation. Conclusion Based on our results, we conclude that feather pecking in chickens and schizophrenia in humans have numerous common features. For instance, a Dicer1 dependent disruption of miRNA biogenesis and the lack of GABRB2 expression have been linked to schizophrenia pathogenesis. Furthermore, disturbed circadian rhythms and dysregulation of genes involved in the immune system are common features of both conditions.

Validation of single-step genomic predictions using the linear regression method for milk yield and heat tolerance in a Thai-Holstein population

Background and Aim: Genomic selection improves accuracy and decreases the generation interval, increasing the selection response. This study was conducted to assess the benefits of using single-step genomic best linear unbiased prediction (ssGBLUP) for genomic evaluations of milk yield and heat tolerance in Thai-Holstein cows and to test the value of old phenotypic data to maintain the accuracy of predictions. Materials and Methods: The dataset included 104,150 milk yield records collected from 1999 to 2018 from 15,380 cows. The pedigree contained 33,799 animals born between 1944 and 2016, of which 882 were genotyped. Analyses were performed with and without genomic information using ssGBLUP and BLUP, respectively. Statistics for bias, dispersion, the ratio of accuracies, and the accuracy of estimated breeding values were calculated using the linear regression (LR) method. A partial dataset excluded the phenotypes of the last generation, and 66 bulls were identified as validation individuals. Results: Bias was considerable for BLUP (0.44) but negligible (–0.04) for ssGBLUP; dispersion was similar for both techniques (0.84 vs. 1.06 for BLUP and ssGBLUP, respectively). The ratio of accuracies was 0.33 for BLUP and 0.97 for ssGBLUP, indicating more stable predictions for ssGBLUP. The accuracy of predictions was 0.18 for BLUP and 0.36 for ssGBLUP. Excluding the first 10 years of phenotypic data (i.e., 1999-2008) decreased the accuracy to 0.09 for BLUP and 0.32 for ssGBLUP. Genomic information doubled the accuracy and increased the persistence of genomic estimated breeding values when old phenotypes were removed. Conclusion: The LR method is useful for estimating accuracies and bias in complex models. When the population size is small, old data are useful, and even a small amount of genomic information can substantially improve the accuracy. The effect of heat stress on first parity milk yield is small.

Can Cross-Country Genomic Predictions Be a Reasonable Strategy to Support Germplasm Exchange? – A Case Study With Hydrogen Cyanide in Cassava

Genomic prediction (GP) offers great opportunities for accelerated genetic gains by optimizing the breeding pipeline. One of the key factors to be considered is how the training populations (TP) are composed in terms of genetic improvement, kinship/origin, and their impacts on GP. Hydrogen cyanide content (HCN) is a determinant trait to guide cassava’s products usage and processing. This work aimed to achieve the following objectives: (i) evaluate the feasibility of using cross-country (CC) GP between germplasm’s of Embrapa Mandioca e Fruticultura (Embrapa, Brazil) and The International Institute of Tropical Agriculture (IITA, Nigeria) for HCN; (ii) provide an assessment of population structure for the joint dataset; (iii) estimate the genetic parameters based on single nucleotide polymorphisms (SNPs) and a haplotype-approach. Datasets of HCN from Embrapa and IITA breeding programs were analyzed, separately and jointly, with 1,230, 590, and 1,820 clones, respectively. After quality control, ∼14K SNPs were used for GP. The genomic estimated breeding values (GEBVs) were predicted based on SNP effects from analyses with TP composed of the following: (i) Embrapa genotypic and phenotypic data, (ii) IITA genotypic and phenotypic data, and (iii) the joint datasets. Comparisons on GEBVs’ estimation were made considering the hypothetical situation of not having the phenotypic characterization for a set of clones for a certain research institute/country and might need to use the markers’ effects that were trained with data from other research institutes/country’s germplasm to estimate their clones’ GEBV. Fixation index (FST) among the genetic groups identified within the joint dataset ranged from 0.002 to 0.091. The joint dataset provided an improved accuracy (0.8–0.85) compared to the prediction accuracy of either germplasm’s sources individually (0.51–0.67). CC GP proved to have potential use under the present study’s scenario, the correlation between GEBVs predicted with TP from Embrapa and IITA was 0.55 for Embrapa’s germplasm, whereas for IITA’s it was 0.1. This seems to be among the first attempts to evaluate the CC GP in plants. As such, a lot of useful new information was provided on the subject, which can guide new research on this very important and emerging field.

Efficient approximation of reliabilities for single-step genomic BLUP models with the Algorithm for Proven and Young

The objectives of this study were to develop an efficient algorithm for calculating prediction error variances (PEV) for GBLUP models using the Algorithm for Proven and Young (APY), extend it to single-step GBLUP (ssGBLUP), and to apply this algorithm for approximating the theoretical reliabilities for single and multiple trait models in ssGBLUP. The PEV with APY was calculated by block-sparse inversion, efficiently exploiting the sparse structure of the inverse of the genomic relationship matrix with APY. Single-step GBLUP reliabilities were approximated by combining reliabilities with and without genomic information in terms of effective record contributions. Multi-trait reliabilities relied on single-trait results adjusted using the genetic and residual covariance matrices among traits. Tests involved two datasets provided by the American Angus Association. A small dataset (Data1) was used for comparing the approximated reliabilities with the reliabilities obtained by the inversion of the left-hand side of the mixed model equations. The large dataset (Data2) was used for evaluating the computational performance of the algorithm. Analyses with both datasets used single-trait and three-trait models. The number of animals in the pedigree ranged from 167,951 in Data1 to 10,213,401 in Data2, with 50,000 and 20,000 genotyped animals for single-trait and multiple trait-analysis, respectively, in Data1 and 335,325 in Data2. Correlations between estimated and exact reliabilities obtained by inversion ranged from 0.97 to 0.99, whereas the intercept and slope of the regression of the exact on the approximated reliabilities ranged from 0.00 to 0.04 and from 0.93 to 1.05, respectively. For the three-trait model with the largest dataset (Data2), the elapsed time for the reliability estimation was eleven minutes. The computational complexity of the proposed algorithm increased linearly with the number of genotyped animals and with the number of traits in the model. This algorithm can efficiently approximate the theoretical reliability of genomic estimated breeding values in ssGBLUP with APY for large numbers of genotyped animals at a low cost.

Genetic characterization of carrot root shape and size using genome-wide association analysis and genomic-estimated breeding values

Key message The principal phenotypic determinants of market class in carrot—the size and shape of the root—are under primarily additive, but also highly polygenic, genetic control. Abstract The size and shape of carrot roots are the primary determinants not only of yield, but also market class. These quantitative phenotypes have historically been challenging to objectively evaluate, and thus subjective visual assessment of market class remains the primary method by which selection for these traits is performed. However, advancements in digital image analysis have recently made possible the high-throughput quantification of size and shape attributes. It is therefore now feasible to utilize modern methods of genetic analysis to investigate the genetic control of root morphology. To this end, this study utilized both genome wide association analysis (GWAS) and genomic-estimated breeding values (GEBVs) and demonstrated that the components of market class are highly polygenic traits, likely under the influence of many small effect QTL. Relatively large proportions of additive genetic variance for many of the component phenotypes support high predictive ability of GEBVs; average prediction ability across underlying market class traits was 0.67. GWAS identified multiple QTL for four of the phenotypes which compose market class: length, aspect ratio, maximum width, and root fill, a previously uncharacterized trait which represents the size-independent portion of carrot root shape. By combining digital image analysis with GWAS and GEBVs, this study represents a novel advance in our understanding of the genetic control of market class in carrot. The immediate practical utility and viability of genomic selection for carrot market class is also described, and concrete guidelines for the design of training populations are provided.

Breed of origin of alleles and genomic predictions for crossbred dairy cows

Background In dairy cattle, genomic selection has been implemented successfully for purebred populations, but, to date, genomic estimated breeding values (GEBV) for crossbred cows are rarely available, although they are valuable for rotational crossbreeding schemes that are promoted as efficient strategies. An attractive approach to provide GEBV for crossbreds is to use estimated marker effects from the genetic evaluation of purebreds. The effects of each marker allele in crossbreds can depend on the breed of origin of the allele (BOA), thus applying marker effects based on BOA could result in more accurate GEBV than applying only proportional contribution of the purebreds. Application of BOA models in rotational crossbreeding requires methods for detecting BOA, but the existing methods have not been developed for rotational crossbreeding. Therefore, the aims of this study were to develop and test methods for detecting BOA in a rotational crossbreeding system, and to investigate methods for calculating GEBV for crossbred cows using estimated marker effects from purebreds. Results For detecting BOA in crossbred cows from rotational crossbreeding for which pedigree is recorded, we developed the AllOr method based on the comparison of haplotypes in overlapping windows. To calculate the GEBV of crossbred cows, two models were compared: a BOA model where marker effects estimated from purebreds are combined based on the detected BOA; and a breed proportion model where marker effects are combined based on estimated breed proportions. The methods were tested on simulated data that mimic the first four generations of rotational crossbreeding between Holstein, Jersey and Red Dairy Cattle. The AllOr method detected BOA correctly for 99.6% of the marker alleles across the four crossbred generations. The reliability of GEBV was higher with the BOA model than with the breed proportion model for the four generations of crossbreeding, with the largest difference observed in the first generation. Conclusions In rotational crossbreeding for which pedigree is recorded, BOA can be accurately detected using the AllOr method. Combining marker effects estimated from purebreds to predict the breeding value of crossbreds based on BOA is a promising approach to provide GEBV for crossbred dairy cows.

Bias in variance component estimation in swine crossbreeding schemes using selective genotyping and phenotyping strategies

Selective genotyping of crossbred (CB) animals to include in traditionally purebred (PB) dominated genetic evaluations has been shown to provide an increase in the response to selection for CB performance. However, the inclusion of phenotypes from selectively genotyped CB animals, without the phenotypes of their non-genotyped cohorts, could cause bias in estimated variance components (VC) and subsequent estimated breeding values (EBV). The objective of the study was to determine the impact of selective CB genotyping on VC estimates and subsequent bias in EBV when non-genotyped CB animals are not included in genetic evaluations. A swine crossbreeding scheme producing 3-way CB animals was simulated to create selectively genotyped datasets. The breeding scheme consisted of three PB breeds each with 25 males and 450 females, F1 crosses with 1200 females and 12,000 CB progeny. Eighteen chromosomes each with 100 QTL and 4k SNP markers were simulated. Both PB and CB performance were considered to be moderately heritable (h2=0.4). Factors evaluated were, 1) CB phenotype and genotype inclusion of 15% (n=1800) or 35% (n=4200), 2) genetic correlation between PB and CB performance (rpc=0.1, 0.5 or 0.7) and 3) selective genotyping strategy. Genotyping strategies included: a) Random: random CB selection, b) Top: highest CB phenotype and c) Extreme: half highest and half lowest CB phenotypes. Top and Extreme selective genotyping strategies were considered by selecting animals in full-sib (FS) families or among the CB population (T). In each generation, 4320 PB selection candidates contributed phenotypic and genotypic records. Each scenario was replicated 15 times. VC were estimated for PB and CB performance utilizing bivariate models using pedigree relationships with dams of CB animals considered to be unknown. Estimated values of VC for PB performance were not statistically different from true values. Top selective genotyping strategies produced deflated estimates of phenotypic VC for CB performance compared to true values. When using estimated VC, Top_T and Extreme_T produced the most biased EBV, yet EBV of PB selection candidates for CB performance were most accurate when using Extreme_T. Results suggest that randomly selecting CB animals to genotype or selectively genotyping Top or Extreme CB animals within full-sib families can lead to accurate estimates of additive genetic VC for CB performance and unbiased EBV.

PSXIV-22 Selection for low fecal egg count estimated breeding value correlates with greater circulating antibody in sheep

Sheep selected for resistance to gastro-intestinal parasites have been shown to have greater survivability to weaning. Data from Katahdin sheep indicates that selection based on post-weaning fecal egg count estimated breeding values (PWFEC EBV) may further improve generalized immunity. However, no data exists to confirm this increased circulating antibody occurs in breeds genetically unrelated to Katahdins. In the fall of 2020 post-weaning blood and fecal samples were collected from Shropshire sheep (n = 42) and Polypay sheep (n = 91). The blood samples were analyzed for total immunoglobulin-G (IgG) using ELISA. Shropshire sheep were sorted into low (PWFEC EBV < 0) and high (PWFEC EBV > 0) groups based on fecal egg count (FEC), which were analyzed via a modified McMaster’s method. Polypay sheep were sorted into three groups by PWEC EBV; A (< -50) B (>-50 < +50) and C (>+50). In Shropshire group, individuals with low FEC had greater average IgG concentration (87.9 µg/mL) than those with high FEC (62.4 µg/mL) (P > 0.05). In the Polypay group, sheep in PWFEC EBV group A had numerically higher IgG concentration (86.2 µg/mL) than sheep in group B (71.2 µg/mL) and group C (53.1 µg/mL) (P > 0.05). While data in either breed were not significant, the trend observed across breeds indicate that sheep with a lower PWFEC EBV have numerically greater circulating antibody.

149 Integration of Selection Signatures Analyses and Weighted Single-step GWAS to Prioritize Candidate Genes for Body Conformation Traits in Pigs

Body conformation traits such as body height (BH) and body length (BL) have been included in the swine industry’s selection criteria. The objective of this study was to identify the quantitative trait loci (QTLs) and candidate genes for pig conformation traits using an integration of selection signatures analyses and weighted single-step GWAS (WssGWAS). Body measurement records of 5,593 Yorkshire pigs of which 598 animals were genotyped with Illumina 50K panel were used. Estimated breeding values (EBVs) for BH and BL were computed using univariate animal models. Genotyped animals were grouped into top 5% and bottom 5% based on their EBVs, and selection signatures analyses were performed using fixation index (Fst), FLK, hapFLK, and Rsb statistics, which were then combined as a Mahalanobis distance (Md) framework. The WssGWAS was conducted to detect the single nucleotide polymorphisms (SNPs) associated with the studied traits. The top 1% SNPs (n=530) from Md distribution that overlapped with the top 1% SNPs from WssGWAS (n = 530) were used to detect the candidate genes. A total of 31 and six overlapped SNPs were found to be associated with BH and BL, respectively. Several candidate genes were identified for BH (PARVA, DCDC1, SYT1, CASTOR2, RGSL1, RGS8, RBMS3, TGFBR2, and HS6ST1) and BL (SNTB1, AK7, PAPOLA, KSR1, CHODL, and BMP2), explaining 2.58% and 0.42% of the trait’s genetic variation, respectively. Our results indicated that integrating data from the signatures of selection tests with WssGWAS could help elucidate genomic regions underlying complex traits.