The Addition of Epistatic Genetic Effects Increases Genomic Prediction Accuracy for Reproduction and Production Traits in Duroc Pigs Using Genomic Models

Background: Genomic selection has been implemented in livestock genetic evaluations for years. However, currently most genomic selection models only consider the additive effects associated with SNP markers and nonadditive genetic effects have been for the most part ignored. Methods: Production traits for 26,735 to 27,647 Duroc pigs and reproductive traits for 5,338 sows were used, including off-test body weight (WT), off-test back fat (BF), off-test loin muscle depth (MS), number born alive (NBA), number born dead (NBD), and number weaned (NW). All animals were genotyped with the PorcineSNP60K Bead Chip. Variance components were estimated using a linear mixed model that includes inbreeding coefficient, additive, dominance, additive-by-additive, additive-by-dominance, dominance-by-dominance effect, and common litter environmental effect. Genomic prediction performance, including all nonadditive genetic effects, was compared with a reduced model that included only additive genetic effect. Results: Significant estimates of additive-by-additive effect variance were observed for NBA, BF, and WT (31%, 9%, and 10%, respectively). Production traits showed significant large estimates of additive-by-dominance variance (9%-23%). MS also showed large estimate of dominance-by-dominance variance (10%). Dominance effect variance estimates were low for all traits (0%-2%). Compared to the reduced model, prediction accuracies using the full model, including nonadditive effects, increased significantly by 12%, 12%, and 1% for NBA, WT, and MS, respectively. A strong dominance association signal with BF was identified near AK5.Conclusions: Sizable estimates of epistatic effects were found for the reproduction and production traits, while the dominance effect was relatively small for all traits yet significant for all production traits. Including nonadditive effects, especially epistatic effects in the genomic prediction model, significantly improved prediction accuracy for NBA, WT, and MS.

Estimation of Additive and Dominance Genetic Effects on Body Weight, Carcass and Ham Quality Traits in Heavy Pigs

Neglecting dominance effects in genetic evaluations may overestimate the predicted genetic response achievable by a breeding program. Additive and dominance genetic effects were estimated by pedigree-based models for growth, carcass, fresh ham and dry-cured ham seasoning traits in 13,295 crossbred heavy pigs. Variance components estimated by models including litter effects, dominance effects, or both, were compared. Across traits, dominance variance contributed up to 26% of the phenotypic variance and was, on average, 22% of the additive genetic variance. The inclusion of litter, dominance, or both these effects in models reduced the estimated heritability by 9% on average. Confounding was observed among litter, additive genetic and dominance effects. Model fitting improved for models including either the litter or dominance effects, but it did not benefit from the inclusion of both. For 15 traits, model fitting slightly improved when dominance effects were included in place of litter effects, but no effects on animal ranking and accuracy of breeding values were detected. Accounting for litter effects in the models for genetic evaluations would be sufficient to prevent the overestimation of the genetic variance while ensuring computational efficiency.

Genome-wide estimates of heritability and genetic correlations in Essential Tremor

ABSTRACTDespite considerable efforts to identify disease-causing and risk factors contributing to essential tremor (ET), no comprehensive assessment of heritable risk has been performed to date. We use GREML-LDMS to estimate narrow-sense heritability due to additive effects (h2) and GREMLd to calculate non-additive heritability due to dominance variance (δ2) using data from 1,748 ET cases and 5,302 controls. We evaluate heritability per 10Mb segments across the genome and assess the impact of Parkinson’s disease (PD) misdiagnosis on heritability estimates. We apply genetic risk score (GRS) from PD and restless legs syndrome (RLS) to explore its contribution to ET risk and further assess genetic correlations with 832 traits by Linkage disequilibrium score regression. Our results show for the first time that ET is a highly heritable condition (h2=0.755, s.e=0.075) in which additive common variability plays a prominent role. In contrast, dominance variance shows insignificant effect on the overall estimates. Heritability split by 10Mb regions revealed increased estimates at chromosomes 6 and 21 suggesting that these may contain causative risk variants influencing susceptibility to ET. The proportion of genetic variance due to PD misdiagnosed cases was estimated to be 5.33%. PD and RLS GRS were not significantly predictive of ET case-control status demonstrating that despite overlapping symptomatology, ET does not seem to share genetic etiologies with PD or RLS. Our study suggests that most of ET genetic component is yet to be discovered and future GWAS will reveal additional risk factors that will improve our understanding of this disabling disorder.

Estimation of additive and dominance genetic variance components for female fertility traits in Iranian Holstein cows

The aim of the current study was to estimate additive and dominance genetic variance components for days from calving to first service (DFS), a number of services to conception (NSC) and days open (DO). Data consisted of 25 518 fertility records from first parity dairy cows collected from 15 large Holstein herds of Iran. To estimate the variance components, two models, one including only additive genetic effects and another fitting both additive and dominance genetic effects together, were used. The additive and dominance relationship matrices were constructed using pedigree data. The estimated heritability for DFS, NSC and DO were 0.068, 0.035 and 0.067, respectively. The differences between estimated heritability using the additive genetic and additive-dominance genetic models were negligible regardless of the trait under study. The estimated dominance variance was larger than the estimated additive genetic variance. The ratio of dominance variance to phenotypic variance was 0.260, 0.231 and 0.196 for DFS, NSC and DO, respectively. Akaike's information criteria indicated that the model fitting both additive and dominance genetic effects is the best model for analysing DFS, NSC and DO. Spearman's rank correlations between the predicted breeding values (BV) from additive and additive-dominance models were high (0.99). Therefore, ranking of the animals based on predicted BVs was the same in both models. The results of the current study confirmed the importance of taking dominance variance into account in the genetic evaluation of dairy cows.

Mode of inheritance of low-N tolerance adaptive traits in wheat (Triticum aestivum L.) under contrasting nitrogen environments

Because of essential economic and ecological concerns, there is increased interest worldwide in developing wheat cultivars that are more efficient in utilizing nitrogen (N) and better suited to N limitations. The objective of the present investigation was to get information on the type of gene action controlling the inheritance of wheat low-N tolerance traits in order to start a breeding program for improving such traits. Six parents of contrasting low-N tolerance were crossed in a diallel fashion. Evaluation of 6 parents, 15 F1crosses and 15 F2 crosses was done using a randomized complete block design with three replications under two levels of soil N, i.e. low-N (0 kg N/ha) and high-N (180 kg N/ha).The magnitude of dominance variance inF2's for all studied traits was much greater than that of additive variance under both high N and low N, suggesting that selection should be postponed to later segregating generations in order to eliminate masking effects of dominance variance and take advantage of the additive variance for the improvement of nitrogen use efficiency and grain yield traits. Narrow-sense heritability (h2n) in F2's was generally of higher magnitude under low-N than high-N, suggesting that it is better to practice selection for studied nitrogen efficiency and grain yield traits under low-N conditions to obtain higher values of selection gain.

Estimación de varianzas genéticas en ocho variedades criollas de maíz para el Bajío mexicano.

The aim of this work was to estimate the combinatory aptitude, genetic variance and heterosis of eight creole corn varieties. The research work was carried in Irapuato, Guanajuato, México, during 2008 and 2009. A randomized complete block design with three replications was used to evaluate the twenty-eight crosses under method 4 Griffing (1956). Each experimental plot included four rows five meters long with a separation of 0,75 m. The general combing ability and specific (ACG and ACE) were highly significant (P<0.01) for all traits except flowering days. The dominance variance (σ2D) was larger and more important than additive variance (σ2A) for most of the traits, indicating that non- additive genetic genes were important on the expression of those traits on crosses. It was observed that varieties P6 (creole #5), P7 (creole #2) and P8 (creole San Antonio) had larger variance effects (σ2ACE) for long cob, number of rows per cob, total cob number, and grain yield. Some outstanding crosses were identified for their high grain yield as well as heterosis, mainly those that included germoplasm of creole #5, #2 and San Antonio. According to the aforementioned we recommend to draw lines from the above populations and cross them to produce hybrids.

The contribution of dominance to the understanding of quantitative genetic variation

SummaryKnowledge of the genetic architecture of a quantitative trait is useful to adjust methods for the prediction of genomic breeding values and to discover the extent to which common assumptions in quantitative trait locus (QTL) mapping experiments and breeding value estimation are violated. It also affects our ability to predict the long-term response of selection. In this paper, we focus on additive and dominance effects of QTL. We derive formulae that can be used to estimate the number of QTLs that affect a quantitative trait and parameters of the distribution of their additive and dominance effects from variance components, inbreeding depression and results from QTL mapping experiments. It is shown that a lower bound for the number of QTLs depends on the ratio of squared inbreeding depression to dominance variance. That is, high inbreeding depression must be due to a sufficient number of QTLs because otherwise the dominance variance would exceed the true value. Moreover, the second moment of the dominance coefficient depends only on the ratio of dominance variance to additive variance and on the dependency between additive effects and dominance coefficients. This has implications on the relative frequency of overdominant alleles. It is also demonstrated how the expected number of large QTLs determines the shape of the distribution of additive effects. The formulae are applied to milk yield and productive life in Holstein cattle. Possible sources for a potential bias of the results are discussed.

What can genetic variation tell us about the evolution of senescence?

Quantitative genetic approaches have been developed that allow researchers to determine which of two mechanisms, mutation accumulation (MA) or antagonistic pleiotropy (AP), best explain observed variation in patterns of senescence using classical quantitative genetic techniques. These include the creation of mutation accumulation lines, artificial selection experiments and the partitioning of genetic variances across age classes. This last strategy has received the lion's share of empirical attention. Models predict that inbreeding depression (ID), dominance variance and the variance among inbred line means will all increase with age under MA but not under those forms of AP that generate marginal overdominance. Here, we show that these measures are not, in fact, diagnostic of MA versus AP. In particular, the assumptions about the value of genetic parameters in existing AP models may be rather narrow, and often violated in reality. We argue that whenever ageing-related AP loci contribute to segregating genetic variation, polymorphism at these loci will be enhanced by genetic effects that will also cause ID and dominance variance to increase with age, effects also expected under the MA model of senescence. We suggest that the tests that seek to identify the relative contributions of AP and MA to the evolution of ageing by partitioning genetic variance components are likely to be too conservative to be of general value.