High-density SNP Panel Research Articles

Investigating the Genetic Background of Spastic Syndrome in North American Holstein Cattle Based on Heritability, Genome-Wide Association, and Functional Genomic Analyses.

Spastic syndrome is a chronic, progressive disorder of adult cattle characterized by episodes of sudden involuntary muscle contractions or spasms of the extensor and abductor muscles of one or both hind limbs. In this study, a case-control genome-wide association study (GWAS) was performed on an adult Holstein cattle cohort. Based on the 50 K and high-density (HD) SNP panel GWAS, we identified 98 and 522 SNPs, respectively. The most significant genomic regions identified are located on BTA9 at approximately 87 megabase pairs (Mb) and BTA7 between 1 and 20 Mb. Functional analyses of significant SNPs identified genes associated with muscle contraction, neuron growth or regulation, and calcium or sodium ion movement. Two candidate genes (FIG4 and FYN) were identified. FIG4 is ubiquitously expressed in skeletal muscle and FYN is involved with processes such as forebrain development, neurogenesis, locomotion, neurogenesis, synapse development, neuron migration, and the positive regulation of neuron projection development. The CACNA1A gene, which codes for a calcium channel subunit protein in the calcium signaling pathway, seems the most compelling candidate gene, as many calcium ion channel disorders are non-degenerative, and produce spastic phenotypes. These results suggest that spastic syndrome is of polygenic inheritance, with important genomic areas of interest on BTA7 and BTA9.

Impact of inclusion non-additive effects on genome-wide association and variance’s components in Scottish black sheep

Context It’s well-documented that most economic traits have a complex genetic structure that is controlled by additive and non-additive gene actions. Hence, knowledge of the underlying genetic architecture of such complex traits could aid in understanding how these traits respond to the selection in breeding and mating programs. Computing and having estimates of the non-additive effect for economic traits in sheep using genome-wide information can be important because; non-additive genes play an important role in the prediction accuracy of genomic breeding values and the genetic response to the selection. Aim This study aimed to assess the impact of non-additive effects (dominance and epistasis) on the estimation of genetic parameters for body weight traits in sheep. Methods This study used phenotypic and genotypic belonging to 752 Scottish Blackface lambs. Three live weight traits considered in this study were included in body weight at 16, 20, and 24 weeks). Three genetic models including additive (AM), additive + dominance (ADM), and additive + dominance + epistasis (ADEM), were used. Key results The narrow sense heritability for weight at 16 weeks of age (BW16) were 0.39, 0.35, and 0.23, for 20 weeks of age (BW20) were 0.55, 0.54, and 0.42, and finally for 24 weeks of age (BW24) were 0.16, 0.12, and 0.02, using the AM, ADM, and ADEM models, respectively. The additive genetic model significantly outperformed the non-additive genetic model (p < 0.01). The dominance variance of the BW16, BW20, and BW24 accounted for 38, 6, and 30% of the total phenotypic, respectively. Moreover, the epistatic variance accounted for 39, 0.39, and 47% of the total phenotypic variances of these traits, respectively. In addition, our results indicated that the most important SNPs for live weight traits are on chromosomes 3 (three SNPS including s12606.1, OAR3_221188082.1, and OAR3_4106875.1), 8 (OAR8_16468019.1, OAR8_18067475.1, and OAR8_18043643.1), and 19 (OAR19_18010247.1), according to the genome-wide association analysis using additive and non-additive genetic model. Conclusions The results emphasized that the non-additive genetic effects play an important role in controlling body weight variation at the age of 16–24 weeks in Scottish Blackface lambs. Implications It is expected that using a high-density SNP panel and the joint modeling of both additive and non-additive effects can lead to better estimation and prediction of genetic parameters.

Discovery of novel MHC-B haplotypes in Chantecler chickens

The major histocompatibility complex (MHC) is a highly polymorphic cluster of genes which contribute to immune response. Located on chromosome 16, the chicken MHC has great influence over disease resistance and susceptibility. Through the use of a high-density SNP panel which encompasses the MHC-B region, haplotypes can be easily identified. This study aims to use an MHC-B SNP panel to evaluate the MHC-B variability in the Chantecler breed. This breed is native to Quebec, Canada, and is a dual-purpose breed known for its strong resistance to extreme cold temperatures. The Chantecler breed faced a near extinction event in the 1970s, which most likely resulted in a genetic bottleneck and loss of diversity. Despite this, SNP haplotype diversity was observed among 4 Chantecler populations. A total of 8 haplotypes were observed. Of these haplotypes, 6 were previously defined in other breeds, and the other 2 were unique to the Chantecler. Within the populations, the number of haplotypes ranged from 4 to 7, with 3 haplotypes, including the novel BSNP-Chant01, being present in all the groups. This study shows existence of reasonable diversity in the MHC-B region of the Chantecler breed and our results further contribute to understanding the variability of this region in chickens.

Identification of copy number variations in the genome of Dairy Gir cattle.

Studying structural variants that can control complex traits is relevant for dairy cattle production, especially for animals that are tolerant to breeding conditions in the tropics, such as the Dairy Gir cattle. This study identified and characterized high confidence copy number variation regions (CNVR) in the Gir breed genome. A total of 38 animals were whole-genome sequenced, and 566 individuals were genotyped with a high-density SNP panel, among which 36 animals had both sequencing and SNP genotyping data available. Two sets of high confidence CNVR were established: one based on common CNV identified in the studied population (CNVR_POP), and another with CNV identified in sires with both sequence and SNP genotyping data available (CNVR_ANI). We found 10 CNVR_POP and 45 CNVR_ANI, which covered 1.05 Mb and 4.4 Mb of the bovine genome, respectively. Merging these CNV sets for functional analysis resulted in 48 unique high confidence CNVR. The overlapping genes were previously related to embryonic mortality, environmental adaptation, evolutionary process, immune response, longevity, mammary gland, resistance to gastrointestinal parasites, and stimuli recognition, among others. Our results contribute to a better understanding of the Gir breed genome. Moreover, the CNV identified in this study can potentially affect genes related to complex traits, such as production, health, and reproduction.

Integrative Analysis Between Genome-Wide Association Study and Expression Quantitative Trait Loci Reveals Bovine Muscle Gene Expression Regulatory Polymorphisms Associated With Intramuscular Fat and Backfat Thickness.

Understanding the architecture of gene expression is fundamental to unravel the molecular mechanisms regulating complex traits in bovine, such as intramuscular fat content (IMF) and backfat thickness (BFT). These traits are economically important for the beef industry since they affect carcass and meat quality. Our main goal was to identify gene expression regulatory polymorphisms within genomic regions (QTL) associated with IMF and BFT in Nellore cattle. For that, we used RNA-Seq data from 193 Nellore steers to perform SNP calling analysis. Then, we combined the RNA-Seq SNP and a high-density SNP panel to obtain a new dataset for further genome-wide association analysis (GWAS), totaling 534,928 SNPs. GWAS was performed using the Bayes B model. Twenty-one relevant QTL were associated with our target traits. The expression quantitative trait loci (eQTL) analysis was performed using Matrix eQTL with the complete SNP dataset and 12,991 genes, revealing a total of 71,033 cis and 36,497 trans-eQTL (FDR < 0.05). Intersecting with QTL for IMF, we found 231 eQTL regulating the expression levels of 117 genes. Within those eQTL, three predicted deleterious SNPs were identified. We also identified 109 eQTL associated with BFT and affecting the expression of 54 genes. This study revealed genomic regions and regulatory SNPs associated with fat deposition in Nellore cattle. We highlight the transcription factors FOXP4, FOXO3, ZSCAN2, and EBF4, involved in lipid metabolism-related pathways. These results helped us to improve our knowledge about the genetic architecture behind important traits in cattle.

A 20-SNP Panel as a Tool for Genetic Authentication and Traceability of Pig Breeds.

Simple SummaryGiven the high economic and qualitative values of local-breed meat products, it is not uncommon that substitution or mislabeling (either fraudulent or accidental) occurs at the market level. Therefore, to protect the interests of both producers and consumers, a reliable traceability tool should be developed. Nowadays, traceability usually relies on physical labeling systems (e.g., ear tags, tattoos, or electronic transponders). These systems do not, however, have good performances when dealing with carcasses or processed meat products. Molecular markers (i.e., based on the DNA sequence) can be a solution, since DNA is easily extracted from a wide variety of animal products and parts, and is not degraded during processing, even at the high temperatures involved. The aim of this study was to identify a small number of DNA mutations for breed-traceability purposes, in particular of the Italian Nero Siciliano pig and its derived products. A small panel of 12 DNA mutations was enough to discriminate Nero Siciliano pigs from other pig breeds and from wild boars.Food authentication in local breeds has important implications from both an economic and a qualitative point of view. Meat products from autochthonous breeds are of premium value, but can easily incur fraudulent or accidental substitution or mislabeling. The aim of this study was to identify a small number of SNPs using the Illumina PorcineSNP60 BeadChip for breed traceability, in particular of the Italian Nero Siciliano pig and its derived products. A panel of 12 SNPs was sufficient to discriminate Nero Siciliano pig from cosmopolitan breeds and wild boars. After adding 8 SNPs, the final panel of 20 SNPs allowed us to discriminate all the breeds involved in the study, to correctly assign each individual to its breed, and, moreover, to discriminate Nero Siciliano from first-generation hybrids. Almost all livestock breeds are being genotyped with medium- or high-density SNP panels, providing a large amount of information for many applications. Here, we proposed a method to select a reduced SNP panel to be used for the traceability of pig breeds.

Fine-scale estimation of inbreeding rates, runs of homozygosity and genome-wide heterozygosity levels in the Mangalarga Marchador horse breed.

With the availability of high-density SNP panels and the establishment of approaches for characterizing homozygosity and heterozygosity sites, it is possible to access fine-scale information regarding genomes, providing more than just comparisons of different inbreeding coefficients. This is the first study that seeks to access such information for the Mangalarga Marchador (MM) horse breed on a genomic scale. To this end, we aimed to assess inbreeding levels using different coefficients, as well as to characterize homozygous and heterozygous runs in the population. Using Axiom ® Equine Genotyping Array-670k SNP (Thermo Fisher), 192 horses were genotyped. Our results showed different estimates: inbreeding from genomic coefficients (FROH )=0.16; pedigree-based (FPED )=0.008; and a method based on excess homozygosity (FHOM )=0.010. The correlations between the inbreeding coefficients were low to moderate, and some comparisons showed negative correlations, being practically null. In total, 85,295 runs of homozygosity (ROH) and 10,016 runs of heterozygosity (ROHet) were characterized for the 31 horse autosomal chromosomes. The class with the highest percentage of ROH was 0-2Mbps, with 92.78% of the observations. In the ROHet results, only the 0-2 class presented observations, with chromosome 11 highlighted in a region with high genetic variability. Three regions from the ROHet analyses showed genes with known functions: tripartite motif-containing 37 (TRIM37), protein phosphatase, Mg2+ /Mn2+ dependent 1E (PPM1E) and carbonic anhydrase 10 (CA10). Therefore, our findings suggest moderate inbreeding, possibly attributed to breed formation, annulling possible recent inbreeding. Furthermore, regions with high variability in the MM genome were identified (ROHet), associated with the recent selection and important events in the development and performance of MM horses over generations.

Assessing MHC-B diversity in Silkie chickens

The major histocompatibility complex (MHC) is a highly polymorphic region on chromosome 16, which contains numerous immune response genes, and is known to influence disease susceptibility and resistance in chickens. Variability of MHC-B haplotypes in various well-known and commercially utilized breeds has previously been identified. This study aims to understand MHC-B diversity in the Silkie breed using a high-density SNP panel that encompasses the chicken MHC-B region. DNA was obtained from 74 females and 27 males from a commercial Silkie breeder colony that is maintained through minimal genetic selection practices. A previously described panel of 90 SNPs, all located within the MHC-B region, was used to evaluate MHC-B variability in the commercial Silkie breeder colony. MHC-B haplotypes identified from the individual SNP information in the Silkie colony were compared to published haplotypes from the same region. Of the 27 haplotypes identified in the Silkie population, 8 have been previously described. Nineteen haplotypes are unique to the Silkie population and include one novel recombinant and 2 additional possible novel recombinants. Six haplotypes were found at a frequency greater than 5% of the population, of which 4 are novel. Finally, Hardy Weinberg Equilibrium (HWE) was calculated for the observed haplotypes, which were found to be in HWE. This study shows considerable MHC-B diversity in the Silkie breed and adds further information on variability of the MHC-B region in the chicken.

Genome-enable prediction for health traits using high-density SNP panel in US Holstein cattle.

SummaryThe objective of this study was to compare accuracies of different Bayesian regression models in predicting molecular breeding values for health traits in Holstein cattle. The dataset was composed of 2505 records reporting the occurrence of retained fetal membranes (RFM), metritis (MET), mastitis (MAST), displaced abomasum (DA), lameness (LS), clinical endometritis (CE), respiratory disease (RD), dystocia (DYST) and subclinical ketosis (SCK) in Holstein cows, collected between 2012 and 2014 in 16 dairies located across the US. Cows were genotyped with the Illumina BovineHD (HD, 777K). The quality controls for SNP genotypes were HWE P‐value of at least 1 × 10−10; MAF greater than 0.01 and call rate greater than 0.95. The fimpute program was used for imputation of missing SNP markers. The effect of each SNP was estimated using the Bayesian Ridge Regression (BRR), Bayes A, Bayes B and Bayes Cπ methods. The prediction quality was assessed by the area under the curve, the prediction mean square error and the correlation between genomic breeding value and the observed phenotype, using a leave‐one‐out cross‐validation technique that avoids iterative cross‐validation. The highest accuracies of predictions achieved were: RFM [Bayes B (0.34)], MET [BRR (0.36)], MAST [Bayes B (0.55), DA [Bayes Cπ (0.26)], LS [Bayes A (0.12)], CE [Bayes A (0.32)], RD [Bayes Cπ (0.23)], DYST [Bayes A (0.35)] and SCK [Bayes Cπ (0.38)] models. Except for DA, LS and RD, the predictive abilities were similar between the methods. A strong relationship between the predictive ability and the heritability of the trait was observed, where traits with higher heritability achieved higher accuracy and lower bias when compared with those with low heritability. Overall, it has been shown that a high‐density SNP panel can be used successfully to predict genomic breeding values of health traits in Holstein cattle and that the model of choice will depend mostly on the genetic architecture of the trait.

A comprehensive comparison of high-density SNP panels and an alternative ultra-high-density panel for genomic analyses in Nellore cattle

There is evidence that some genotyping platforms might not work very well for Zebu cattle when compared with Taurine breeds. In addition, the availability of panels with low to moderate number of overlapping markers is a limitation for combining datasets for genomic evaluations, especially when animals are genotyped using different SNP panels. In the present study, we compared the performance of medium- and high-density (HD) commercially available panels and investigated the feasibility of developing an ultra-HD panel (SP) containing markers from an Illumina (HD_I) and an Affymetrix (HD_A) panels. The SP panel contained 1123442 SNPs. After performing SNP pruning on the basis of linkage disequilibrium, HD_A, HD_I and SP contained 429624, 365225 and 658770 markers distributed across the whole genome. The overall mean proportion of markers pruned out per chromosome for HD_A, HD_I and SP was 15.17%, 43.18%, 38.63% respectively. The HD_I panel presented the highest mean number of runs-of-homozygosity segments per animal (45.48%, an increment of 5.11% compared with SP) and longer segments, on average (3057.95 kb per segment), than did both HD_A and SP. HD_I also showed the highest mean number of SNPs per run-of-homozygosity segment. Consequently, the majority of animals presented the highest genomic inbreeding levels when genotyped using HD_I. The visual examination of marker distribution along the genome illustrated uncovered regions among the different panels. Haplotype-block comparison among panels and the average haplotype size constructed on the basis of HD_A were smaller than those from HD_I. The average number of SNPs per haplotype was different between HD_A and HD_I. Both HD_A and HD_I panels achieved high imputation accuracies when used as the lower-density panels for imputing to SP. However, imputation accuracy from HD_A to SP was greater than was imputation from HD_I to SP. Imputation from one HD panel to the other is also feasible. Low- and medium-density panels, composed of markers that are subsets of both HD_A and HD_I panels, should be developed to achieve better imputation accuracies to both HD levels. Therefore, the genomic analyses performed in the present study showed significant differences among the SNP panels used.

Comparison between haplotype-based and individual snp-based genomic predictions for beef fatty acid profile in Nelore cattle.

The aim of this study was to evaluate the genomic predictions using the single-step genomic best linear unbiased predictor (ssGBLUP) method based on SNPs and haplotype markers associated with beef fatty acids (FAs) profile in Nelore cattle. The data set contained records from 963 Nelore bulls finished in feedlot (±90days) and slaughtered with approximately 24months of age. Meat samples from the Longissimus dorsi muscle were taken for FAs profile measurement. FAs were quantified by gas chromatography using a SP-2560 capillary column. Animals were genotyped with the high-density SNP panel (BovineHD BeadChip assay) containing 777,962 markers. SNPs with a minor allele frequency and a call rate lower than 0.05 and 0.90, respectively, monomorphic, located on sex chromosomes, and with unknown position were removed from the data set. After genomic quality control, a total of 469,981 SNPs and 892 samples were available for subsequent analyses. Missing genotypes were imputed and phased using the FImpute software. Haplotype blocks were defined based on linkage disequilibrium using the Haploview software. The model to estimate variance components and genetic parameters and to predict the genomic values included the random genetic additive effects, fixed effects of the contemporary group and the age at slaughter as a linear covariate. Accuracies using the haplotype-based approach ranged from 0.07 to 0.31, and those SNP-based ranged from 0.06 to 0.33. Regression coefficients ranged from 0.07 to 0.74 and from 0.08 to 1.45 using the haplotype- and SNP-based approaches, respectively. Despite the low to moderate accuracies for the genomic values, it is possible to obtain genetic progress trough selection using genomic information based either on SNPs or haplotype markers. The SNP-based approach allows less biased genomic evaluations, and it is more feasible when taking into account the computational and operational cost underlying the haplotypes inference.

Genome-Wide Association Study for Milk Fatty Acids in Holstein Cattle Accounting for the DGAT1 Gene Effect.

Simple SummaryMilk fat content and fatty acid composition are key traits for the dairy industry, as they directly influence consumer acceptance of dairy products and are associated with the chemical-physical characteristics of milk. In order to genetically improve milk fat composition, it is important to understand the biological mechanisms behind the phenotypic variability observed in these traits. In this study, we used a genomic dataset for 6692 animals and over 770,000 genetic markers distributed across the genome. We compared different statistical approaches to better identify the genes associated with milk fatty acid composition in Holstein cattle. Our results suggest that the DGAT1 gene accounts for most of the variability in milk fatty acid composition, and that the PLBD1 and MGST1 genes are important additional candidate genes in Holstein cattle.The identification of genomic regions and candidate genes associated with milk fatty acids contributes to better understand the underlying biology of these traits and enables breeders to modify milk fat composition through genetic selection. The main objectives of this study were: (1) to perform genome-wide association analyses for five groups of milk fatty acids in Holstein cattle using a high-density (777K) SNP panel; and (2) to compare the results of GWAS accounting (or not) for the DGAT1 gene effect as a covariate in the statistical model. The five groups of milk fatty acids analyzed were: (1) saturated (SFA); (2) unsaturated (UFA); (3) short-chain (SCFA); (4) medium-chain (MCFA); and (5) long-chain (LCFA) fatty acids. When DGAT1 was not fitted as a covariate in the model, significant SNPs and candidate genes were identified on BTA5, BTA6, BTA14, BTA16, and BTA19. When fitting the DGAT1 gene in the model, only the MGST1 and PLBD1 genes were identified. Thus, this study suggests that the DGAT1 gene accounts for most of the variability in milk fatty acid composition and the PLBD1 and MGST1 genes are important additional candidate genes in Holstein cattle.

Detection of Haplotypic Structure for Genome of Azerbaijani Buffalo Using High Density SNP Markers

The aim of this study was to determine genome-wide haplotype block structure, extent of linkage disequilibrium (LD) and effective population size using the information obtained from 243 Azerbaijani buffalo (Axiom® Buffalo Genotyping 90 K) using a high density SNP panel. After quality control, 62,141 SNP markers remained for population structure analysis and identification of haplotype blocks. The extent of LD was measured by the square of correlation coefficient (r2) between alleles. The maximum LD varied from 0.25 to 0.29 at a distance of <2.5 kb, and the minimum average values of r2 varied from 0.012 to 0.014 at distances ranging from 900 to 1000 kb. Overall, 1693 blocks were observed through the genome. Eleven percent of all SNPs were clustered into haplotype blocks, covering 202 ± 3.4 Mb of the total autosomal genome size. Using formula which relate expected LD to effective population size (Ne), and assuming a constant actual population size, Ne was 422 in our population.

Strategies for within-litter selection of piglets using ultra-low density SNP panels

Genotyping costs and the large number of selection candidates are major factors that inhibit the application of genomic selection in the swine industry and other small-sized livestock species. In order to reduce genotyping costs and increase the uptake of genomic selection, a possible strategy is to genotype animals with an affordable low-density (LD) SNP panel and, then accurately impute the LD panel to a high-density (HD) SNP panel. For within-litter piglet selection, genotyping all piglets from all farrows using the commercially available SNP chips is still cost prohibitive. Consequently, genomic evaluation is limited in this stage and genotypic and phenotypic data from all piglets in a litter are rarely available. This study investigates the feasibility of implementing genomic selection for within-litter piglet selection, using a total of nine simulated LD panels: from the “ultra” low (300–3000 SNP markers) to moderately low (6000–10, 000 SNP markers). For each LD panel, the performance of the genomic predictions according to the accuracy of genotype imputation, the accuracy of the genomic estimated breeding values (GEBV) based on the imputed data, and distribution of the correctly selected animals within litter was evaluated and compared to using the simulated HD panel (60,000 SNP) and True Breeding Values (TBVs). In this simulation study, we considered three economically important traits: back fat thickness (BF), growth rate of age to 100 Kg (GR), and litter size (LS). For the LD panel sizes ranging from 300 to 10,000, the accuracy of imputation (measured as concordance rate) ranged from 73.20 to 99.81%; and the mean proportion of the correctly selected top rank animals within litter ranged from 55 to 98%. Based on the trade-off between panel size and genomic selection accuracy, the use of a LD panel containing 1500 SNPs might be recommended, as this panel yielded more than 85% correctly selected animals within-litter based on all three traits.

299 Validation of genomic evaluation on some economically important traits of Canadian purebred pigs.

This study was performed to validate the accuracy of Genomic Estimated Breeding Values (GEBV) in comparison to traditional EBV calculation for prediction of future performance of pigs on some economically important traits. The traits studied were total number of piglets born (TPB), backfat thickness (BFT), growth rate (age to 100 kg live weight, AGE) and loin depth (adjusted to 100 kg live weight, LDP). Animals were genotyped with Illumina and Affymetrix high-density SNP panels and the number of remaining SNPs after the quality control and excluding the SNPs on the sex chromosomes were 44507, 45364 and 44967 for Duroc, Landrace, and Yorkshire pig breeds, respectively. All genotypes were imputed to the Illumina 70K SNP panel using the FImpute software. The gebv software was used to compute the GEBVs following the equivalent model of VanRaden. GEBVs of validation animals estimated before performance testing in September 2017 were correlated with the de-regressed national EBVs of March 2018 after performance testing. Except for AGE in Yorkshire and Landrace, the GEBV of September 2017 showed 12–63% higher correlation with adjusted phenotypes of March 2018 than September 2017 EBVs. The validation shows very promising results (Table 1) though there needs to be further investigation into the validation of AGE.

A genome-wide association study reveals novel genomic regions and positional candidate genes for fat deposition in broiler chickens

BackgroundExcess fat content in chickens has a negative impact on poultry production. The discovery of QTL associated with fat deposition in the carcass allows the identification of positional candidate genes (PCGs) that might regulate fat deposition and be useful for selection against excess fat content in chicken’s carcass. This study aimed to estimate genomic heritability coefficients and to identify QTLs and PCGs for abdominal fat (ABF) and skin (SKIN) traits in a broiler chicken population, originated from the White Plymouth Rock and White Cornish breeds.ResultsABF and SKIN are moderately heritable traits in our broiler population with estimates ranging from 0.23 to 0.33. Using a high density SNP panel (355,027 informative SNPs), we detected nine unique QTLs that were associated with these fat traits. Among these, four QTL were novel, while five have been previously reported in the literature. Thirteen PCGs were identified that might regulate fat deposition in these QTL regions: JDP2, PLCG1, HNF4A, FITM2, ADIPOR1, PTPN11, MVK, APOA1, APOA4, APOA5, ENSGALG00000000477, ENSGALG00000000483, and ENSGALG00000005043. We used sequence information from founder animals to detect 4843 SNPs in the 13 PCGs. Among those, two were classified as potentially deleterious and two as high impact SNPs.ConclusionsThis study generated novel results that can contribute to a better understanding of fat deposition in chickens. The use of high density array of SNPs increases genome coverage and improves QTL resolution than would have been achieved with low density. The identified PCGs were involved in many biological processes that regulate lipid storage. The SNPs identified in the PCGs, especially those predicted as potentially deleterious and high impact, may affect fat deposition. Validation should be undertaken before using these SNPs for selection against carcass fat accumulation and to improve feed efficiency in broiler chicken production.

Genetic diversity of a New Zealand multi-breed sheep population and composite breeds\u2019 history revealed by a high-density SNP chip

BackgroundKnowledge about the genetic diversity of a population is a crucial parameter for the implementation of successful genomic selection and conservation of genetic resources. The aim of this research was to establish the scientific basis for the implementation of genomic selection in a composite Terminal sheep breeding scheme by providing consolidated linkage disequilibrium (LD) measures across SNP markers, estimating consistency of gametic phase between breed-groups, and assessing genetic diversity measures, such as effective population size (Ne), and population structure parameters, using a large number of animals (n = 14,845) genotyped with a high density SNP chip (606,006 markers). Information generated in this research will be useful for optimizing molecular breeding values predictions and managing the available genetic resources.ResultsOverall, as expected, levels of pairwise LD decreased with increasing distance between SNP pairs. The mean LD r2 between adjacent SNP was 0.26 ± 0.10. The most recent effective population size for all animals (687) and separately per breed-groups: Primera (974), Lamb Supreme (380), Texel (227) and Dual-Purpose (125) was quite variable. The genotyped animals were outbred or had an average low level of inbreeding. Consistency of gametic phase was higher than 0.94 for all breed pairs at the average distance between SNP on the chip (~4.74 kb). Moreover, there was not a clear separation between the breed-groups based on principal component analysis, suggesting that a mixed-breed training population for calculation of molecular breeding values would be beneficial.ConclusionsThis study reports, for the first time, estimates of linkage disequilibrium, genetic diversity and population structure parameters from a genome-wide perspective in New Zealand Terminal Sire composite sheep breeds. The levels of linkage disequilibrium indicate that genomic selection could be implemented with the high density SNP panel. The moderate to high consistency of gametic phase between breed-groups and overlapping population structure support the pooling of the animals in a mixed training population for genomic predictions. In addition, the moderate to high Ne highlights the need to genotype and phenotype a large training population in order to capture most of the haplotype diversity and increase accuracies of genomic predictions. The results reported herein are a first step toward understanding the genomic architecture of a Terminal Sire composite sheep population and for the optimal implementation of genomic selection and genome-wide association studies in this sheep population.

Genome-Wide Association Study for Carcass Traits in an Experimental Nelore Cattle Population.

The purpose of this study was to identify genomic regions associated with carcass traits in an experimental Nelore cattle population. The studied data set contained 2,306 ultrasound records for longissimus muscle area (LMA), 1,832 for backfat thickness (BF), and 1,830 for rump fat thickness (RF). A high-density SNP panel (BovineHD BeadChip assay 700k, Illumina Inc., San Diego, CA) was used for genotyping. After genomic data quality control, 437,197 SNPs from 761 animals were available, of which 721 had phenotypes for LMA, 669 for BF, and 718 for RF. The SNP solutions were estimated using a single-step genomic BLUP approach (ssGWAS), which calculated the variance for windows of 50 consecutive SNPs and the regions that accounted for more than 0.5% of the additive genetic variance were used to search for candidate genes. The results indicated that 12, 18, and 15 different windows were associated to LMA, BF, and RF, respectively. Confirming the polygenic nature of the studied traits, 43, 65, and 53 genes were found in those associated windows, respectively for LMA, BF, and RF. Among the candidate genes, some of them, which already had their functions associated with the expression of energy metabolism, were found associated with fat deposition in this study. In addition, ALKBH3 and HSD17B12 genes, which are related in fibroblast death and metabolism of steroids, were found associated with LMA. The results presented here should help to better understand the genetic and physiologic mechanism regulating the muscle tissue deposition and subcutaneous fat cover expression of Zebu animals. The identification of candidate genes should contribute for Zebu breeding programs in order to consider carcass traits as selection criteria in their genetic evaluation.

Using markers with large effect in genetic and genomic predictions.

The first attempts of applying marker-assisted selection (MAS) in animal breeding were not very successful because the identification of markers closely linked to QTL using low-density microsatellite panels was difficult. More recently, the use of high-density SNP panels in genome-wide association studies (GWAS) have increased the power and precision of identifying markers linked to QTL, which offer new possibilities for MAS. However, when GWAS started to be performed, the focus of many breeders had already shifted from the use of MAS to the application of genomic selection (using all available markers without any preselection of markers linked to QTL). In this study, we aimed to evaluate the prediction accuracy of a MAS approach that accounts for GWAS findings in the prediction models by including the most significant SNP from GWAS as a fixed effect in the marker-assisted BLUP (MA-BLUP) and marker-assisted genomic BLUP (MA-GBLUP) prediction models. A second aim was to compare the prediction accuracies from the marker-assisted models with those obtained from a Bayesian variable selection (BVS) model. To compare the prediction accuracies of traditional BLUP, MA-BLUP, genomic BLUP (GBLUP), MA-GBLUP, and BVS, we applied these models to the trait "number of teats" in 4 distinct pig populations, for validation of the results. The most significant SNP in each population was located at approximately 103.50 Mb on chromosome 7. Applying MAS by accounting for the most significant SNP in the prediction models resulted in improved prediction accuracy for number of teats in all evaluated populations compared with BLUP and GBLUP. Using MA-BLUP instead of BLUP, the increase in prediction accuracy ranged from 0.021 to 0.124, whereas using MA-GBLUP instead of GBLUP, the increase in prediction accuracy ranged from 0.003 to 0.043. The BVS model resulted in similar or higher prediction accuracies than MA-GBLUP. For the trait number of teats, BLUP resulted in the lowest prediction accuracies whereas the highest were observed when applying MA-GBLUP or BVS. In the same data set, MA-BLUP can yield similar or superior accuracies compared with GBLUP. The superiority of MA-GBLUP over traditional GBLUP is more pronounced when training populations are smaller and when relationships between training and validation populations are smaller. Marker-assisted GBLUP did not outperform BVS but does have implementation advantages in large-scale evaluations.

Evidence of selective sweeps through haplotype structure of Pinzgau cattle

The aim of this study was to identify the genomic regions potentially under positive selection through the determination of integrated Haplotype Homozygosity Score in dual-purpose Pinzgau cattle. The genomic data from in total 37 Slovak and 105 Austrian purebred bulls were obtained using Illumina high-density SNP panels. After applying the quality control the final dataset composed of overall 27,895 autosomal loci with SNP density at the level one locus per 89.31 kb. The single-site iHS values have been scored for each SNP and subsequently averaged into the non-overlapping 500 kb windows across the genome. Totally, 27,293 iHS values across 4968 sliding windows were tested for the evidence of selection signatures. The most significant iHS values were detected for 6 genomic regions on BTA 2, 4, 5, 7, 8 and 22. The iHS value was in average 0.03 and the highest score of iHS (2.09) has been found in region on BTA 5. Our results provide initial insight and basis for future studies of genome-wide associations and impact of artificial selection in Slovak Pinzgau cattle.