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Diploid male production correlates with genetic diversity in the parasitoid wasp Venturia canescens: a genetic approach with new microsatellite markers

Sex determination is ruled by haplodiploidy in Hymenoptera, with haploid males arising from unfertilized eggs and diploid females from fertilized eggs. However, diploid males with null fitness are produced under Complementary Sex Determination (CSD), whenindividuals are homozygous for this locus. Diploid males are expected to be more frequent in genetically eroded populations (such as islands and captive populations), as genetic diversity at the csd locus should be low. However, only a few studies have focused on the relation between population size, genetic diversity and the proportion of diploid males in the field. Here, we developed new microsatellites markers in order to assess and compare genetic diversity and diploid male proportion in populations from three distinct habitat types (mainland, island or captive), in the parasitoid wasp Venturia canescens. Eroded genetic diversity and higher diploid male proportion were found in island and captive populations, and habitat type had large effect on genetic diversity. Therefore, diploid male proportion reflects the decreasing genetic diversity in small and isolated populations. Thus, Hymenopteran populations can be at high extinction risk due to habitat destruction or fragmentation.

Ecology

Insights to the genetic etiology of a lifestyle-related disease with differential levels of severity using a hierarchy of common genetic variants

Genome evolution in disparate species is synopsized to highlight the role of common genetic variants during their adaptation, and an evolutionary perspective is provided to infer lifestyle-related disease progression in humans. Cardiovascular disease (CVD) is a multi-factorial disease, where maladaptation due to a sedentary lifestyle and faulty diet can influence its prognosis, but the genetic basis for its differential severity remains unknown. As a healthy diet and lifestyle may restrict its prognosis, we hypothesize that a hierarchy of common genetic variants may differentially modulate that severity in a subpopulation. We suggest that the loss-of-function paradigm due to a genetic variant may give rise to a broad spectrum of CVD severity in conjunction with other variants. Here, we have inferred that CAD severity may be a consequence of the plasticity of common variants exclusive among patients with disparate disease severity. Most importantly, we have used a small and outbred subpopulation to demonstrate that common genetic variants can be exploited to trace this unique facet of CAD etiology. Moreover, we corroborate our hypothesis by reporting that a hierarchical plasticity of the LDLR gene, which has been implicated in a differential response to lipid metabolism, is associated with differential CVD severity.\n\nCan we gain insight to the genetic etiology of diseases using a limited number of genomes (few hundred)? Can small data sets lend insights that large data sets may subsequently confirm? Here, I show how common genetic variants, which were identified only from hundreds of individuals, may be used to gain unique insights regarding the disease etiology of a common lifestyle-related disease.

evolutionary biology

High genetic loading for schizophrenia predicts poor response to lithium in patients with bipolar disorder: A polygenic score and cross-trait genetic analysis

ImportanceLithium is a first-line mood stabilizer for the maintenance treatment of Bipolar Disorder (BPD). However, the efficacy of lithium varies widely, with a non-response rate of up to 30%. Biological response markers and predictors are lacking.\n\nObjectiveGenetic factors are thought to mediate lithium treatment response, and the previously reported genetic overlap between BPD and schizophrenia (SCZ) led us to test whether a polygenic score (PGS) for SCZ could predict lithium treatment response in BPD. Further, we explored the potential molecular underpinnings of this association.\n\nDesignWeighted SCZ PGSs were computed at ten p-value thresholds (PT) using summary statistics from a genome-wide association study (GWAS) of 36,989 SCZ cases, and genotype data for BPD patients from the Consortium on Lithium Genetics (ConLi+Gen). For functional exploration, we performed a cross-trait meta-GWAS and pathway analysis, combining GWAS summary statistics on SCZ and lithium treatment response.\n\nSettingInternational multicenter GWAS.\n\nParticipantsPatients with BPD who had undergone lithium treatment were genotyped and retrospectively assessed for long-term treatment response (n=2,586).\n\nMain outcome measuresClinical treatment response to lithium was defined on both the categorical and continuous scales using the ALDA score. The effect measures include odds ratios (ORs) and the proportion of variance explained (R2), and a significant association was determined at p<0.05.\n\nResultsThe PGS for SCZ was inversely associated with lithium treatment response in the categorical outcome (p=8x10-5), at PT <5x10-2. Patients with BPD who had low polygenic load for SCZ responded better to lithium, with ORs for lithium response ranging from 3.46 [95%CI: 1.42-8.41 at 1st decile] to 2.03 [95%CI: 0.86-4.81 at the 9th decile], compared to the patients in the 10th decile of SCZ risk. In the cross-trait meta-GWAS, 15 genetic loci that may have overlapping effects on lithium treatment response and susceptibility to SCZ were identified. Functional pathway and network analysis of these loci point to the HLA complex and inflammatory cytokines (TNF, IL-4, IFN{gamma}) as molecular contributors to lithium treatment response in BPD.\n\nConclusions and RelevanceThe study provides, for the first-time, evidence for a negative association between high genetic loading for SCZ and poor response to lithium in patients with BPD. These results suggest the potential for translational research aimed at personalized prescribing of lithium.\n\nKey PointsO_ST_ABSQuestionC_ST_ABSDoes a polygenic score for Schizophrenia (SCZ) predict response to lithium in patients with Bipolar Disorder (BPD)? What are the molecular drivers of the association between SCZ and lithium treatment response?\n\nFindingsWe found an inverse association between genetic loading for SCZ risk variants and response to lithium in patients with BPD. Genetic variants in the HLA region on chromosome 6, the antigen presentation pathway and markers of inflammation (TNF, IL-4, IFN{gamma}) point to molecular underpinnings of lithium treatment response in BPD.\n\nMeaningIn patients with BPD, an assessment of a polygenic load for SCZ risk variants may assist in conjunction with clinical data to predict whether they would respond to lithium treatment.

genetics

The human brain views selfish behaviour towards genetic vs. non-genetic sibling differently

Previous behavioural studies have shown that humans act more altruistically towards kin. Whether and how such kinship preference translates into differential neurocognitive evaluation of social interactions has remained an open question. Here, we investigated how the human brain is engaged when viewing a moral dilemma between genetic vs. non-genetic sisters. During functional magnetic resonance imaging, a movie depicting refusal of organ donation between two sisters was shown, with participants guided to believe the sisters were related either genetically or by adoption. The participants selfreported that genetic relationship was not relevant to them, yet their brain activity told a different story. When the participants believed that the sisters were genetically related, inter-subject similarity of brain activity was significantly stronger in areas supporting response-conflict resolution, emotion regulation, and self-referential social cognition. Our results show that mere knowledge of a genetic relationship between interacting persons can robustly modulate social cognition of the perceiver.

neuroscience

Genetic risk for coronary heart disease alters the influence of Alzheimer’s genetic risk on mild cognitive impairment

BACKGROUNDAlzheimers disease (AD) is under considerable genetic influence. However, known susceptibility loci only explain a modest proportion of variance in disease outcomes. This small proportion could occur if the etiology of AD is heterogeneous. We previously found that an AD polygenic risk score (PRS) was significantly associated with mild cognitive impairment (MCI), an early stage of AD. Poor cardiovascular health is also associated with increased risk for AD and has been found to interact with AD pathology. Conditions such as coronary artery disease (CAD) are also heritable, and may contribute to heterogeneity if there are interactions of genetic risk for these conditions as there is phenotypically. However, case-control designs based on prevalent cases of a disease with relatively high case-fatality rate such as CAD may be biased toward individuals who have long post-event survival times and may therefore also identify loci with protective effects.\n\nMETHODSWe compared interactions between an AD-PRS and two CAD-PRSs, one based on a GWAS of incident cases and one on prevalent cases, on MCI status in 1,209 individuals.\n\nRESULTSAs expected, the incidence-based CAD-PRS interacts with the AD-PRS to further increase MCI risk. Conversely, higher prevalence-based CAD-PRSs reduced the effect of AD genetic risk on MCI status.\n\nCONCLUSIONSThese results demonstrate: i) the utility of including multiple PRSs and their interaction effects; ii) how genetic risk for one disease may modify the impact of genetic risk for another; and iii) the importance of considering ascertainment procedures of GWAS being used for genetic risk prediction.

genomics

Systemizing is genetically correlated with autism and is genetically distinct from social autistic traits

The core diagnostic criteria for autism comprise two symptom domains - social and communication difficulties, and unusually repetitive and restricted behaviour, interests and activities. There is some evidence to suggest that these two domains are dissociable, yet, this hypothesis has not been tested using molecular genetics. We test this using a GWAS of a non-social autistic trait, systemizing (N = 51,564), defined as the drive to analyse and build systems. We demonstrate that systemizing is heritable and genetically correlated with autism. In contrast, we do not identify significant genetic correlations between social autistic traits and systemizing. Supporting this, polygenic scores for systemizing are significantly positively associated with restricted and repetitive behaviour but not with social difficulties in autistic individuals. These findings strongly suggest that the two core domains of autism are genetically dissociable, and point at how to fractionate the genetics of autism.

genetics

Master regulators of genetic interaction networks mediating statin drug response in Saccharomyces cerevisiae vary with genetic background

Determination of genetic interaction networks (GINs) surrounding drug targets identifies buffering genes and provides molecular insight into drug response in individuals. Here we used backcross methodology to create Saccharomyces cerevisiae deletion libraries in three genetic backgrounds resistant to statins, which are additional to the statin-sensitive S288C deletion library that has provided much of what is known about GINs in eukaryotes. Whole genome sequencing and linkage group analysis confirmed the genomic authenticity of the new deletion libraries. Statin response was probed by drug-gene interactions with atorvastatin and cerivastatin treatments, as well as gene-gene interactions with the statin target HMG1 and HMG2 genes or the sterol homeostatic ARV1 gene. The 20 GINs generated from these interactions were not conserved by function or topology across the four genetic backgrounds. Centrality measures and hierarchical agglomerative clustering identified master regulators that if removed collapsed the networks. Community structure distinguished a characteristic early secretory pathway pattern of gene usage in each genetic background. ER stress in statin-resistant backgrounds was buffered by protein folding genes, which was confirmed by reduced activation of the unfolded protein response in statin-resistant backgrounds relative to the statin-sensitive S288C background. These network analyses of new gene deletion libraries provide insight into the complexity of GINs underlying individual drug response.

systems biology

Long term context dependent genetic adaptation of the viral genetic cloud

RNA viruses generate a cloud of genetic variants within each host. This cloud contains high frequency genotypes, and a very large number of rare variants. While the dynamics of frequent variants are affected by the fitness of each variant, the rare variants cloud is affected by more complex genetic factors, including context dependent mutations. It serves as a spearhead for the viral populations movement within the adaptive landscape. We here use an experimental evolution system to show that the genetic cloud surrounding the Coxsackie virus master sequence slowly, but steadily, evolves over hundreds of generations. The evolution of the rare variants cloud often precedes the appearance of high frequency variants. The rare variants clouds evolution is driven by a combination of a context-dependent mutation pattern and selection for and against specific nucleotide compositions.This combination affects the mutated dinucleotide distribution, and eventually leads to a non-uniform dinucleotide distribution in the main viral sequence. We then tested these conclusions on other RNA viruses with similar conclusions.

genetics

Powerful and Efficient Strategies for Genetic Association Testing of Symptom and Questionnaire Data in Psychiatric Genetic Studies

Genetic studies of psychiatric disorders often deal with phenotypes that are not directly measurable. Instead, researchers rely on multivariate symptom data from questionnaires and surveys like the PTSD Symptom Scale (PSS) and Beck Depression Inventory (BDI) to indirectly assess a latent phenotype of interest. Researchers subsequently collapse such multivariate questionnaire data into a univariate outcome to represent a surrogate for the latent phenotype. However, when a causal variant is only associated with a subset of collapsed symptoms, the effect will be challenging to detect using the univariate outcome. We describe a more powerful strategy for genetic association testing in this situation that jointly analyzes the original multivariate symptom data collectively using a statistical framework that compares similarity in multivariate symptom-scale data from questionnaires to similarity in common genetic variants across a gene. We use simulated data to demonstrate this strategy provides substantially increased power over standard approaches that collapse questionnaire data into a single surrogate outcome. We also illustrate our approach using GWAS data from the Grady Trauma Project and identify genes associated with BDI not identified using standard univariate techniques. The approach is computationally efficient, scales to genome-wide studies, and is applicable to correlated symptom data of arbitrary dimension (thereby aligning with National Institute of Mental Healths Research Domain Criteria).

genetics

Host range expansion and genetic plasticity drive the trade-off between integrative and extrachromosomal mobile genetic elements

Self-transmissible mobile genetic elements drive horizontal gene transfer between prokaryotes. Some of these elements integrate in the chromosome, whereas others replicate autonomously as plasmids. Recent works showed the existence of few differences, and occasional interconversion, between the two types of elements. Here, we enquired on why evolutionary processes have maintained the two types of mobile genetic elements by comparing integrative and conjugative elements (ICE) with extrachromosomal ones (conjugative plasmids) of the highly abundant MPFT conjugative type. We observed that plasmids encode more replicases, partition systems, and antibiotic resistance genes, whereas ICEs encode more integrases and metabolism-associated genes. ICEs and plasmids have similar average sizes, but plasmids are much more variable, have more DNA repeats, and exchange genes more frequently. On the other hand, we found that ICEs are more frequently transferred between distant taxa. We propose a model where differential plasticity and transmissibility range explain the co-occurrence of integrative and extra-chromosomal elements in microbial populations. In particular, the conversion from ICE to plasmid allows ICE to be more plastic, while the conversion from plasmid to ICE allows the expansion of the element s host range.

evolutionary biology

Beyond Bonferroni Revisited: Concerns over inflated false positives in conservation genetics, genetics, and neuroscience

In 2006, Narum published a paper in Conservation Genetics that was motivated by the stringent nature of the Bonferroni approach for family wise error correction. That work suggested that the approach of Benjamini and Yekutieli in 2001 provided adequate correction and was more biologically relevant. However, there are crucial differences between the original Benjamini and Yekutieli procedure and that described by Narum. After carefully reviewing both papers, we believe that the Narum procedure is both different than the Benjamini and Yekutieli procedure and does not adequately control for family wise error. We provide an overview of approaches for FWE correction as well as evidence for the faulty implementation of the Benjamini and Yekutieli procedure by Narum using the equations from the respective papers, data from both papers, and the results of simulation.

genetics

Genome-wide association and prediction reveals the genetic architecture of cassava mosaic disease resistance and prospects for rapid genetic improvement

Cassava (Manihot esculenta) is a crucial, under-researched crop feeding millions worldwide, especially in Africa. Cassava mosaic disease (CMD) has plagued production in Africa for over a century. Bi-parental mapping studies suggest primarily a single major gene mediates resistance. To be certain and to potentially identify new loci we conducted the first genome-wide association mapping study in cassava with 6128 African breeding lines. We also assessed the accuracy of genomic selection to improve CMD resistance. We found a single region on chromosome 8 accounts for most resistance but also identified 13 small effect regions. We found evidence that two epistatic loci and/or alternatively multiple resistance alleles exist at major QTL. We identified two peroxidases and one thioredoxin as candidate genes. Genomic prediction of additive and total genetic merit was accurate for CMD and will be effective both for selecting parents and identifying highly resistant clones as varieties.

Genomics

Tissue-specific functional effect prediction of genetic variation and applications to complex trait genetics

AO_SCPCAPBSTRACTC_SCPCAPWe describe here a new method based on a latent Dirichlet allocation model for predicting functional effects of noncoding genetic variants in a cell type and tissue specific way (FUN-LDA) by integrating diverse epigenetic annotations for specific cell types and tissues from large scale epige-nomics projects such as ENCODE and Roadmap Epigenomics. Using this unsupervised approach we predict tissue-specific functional effects for every position in the human genome. We demonstrate the usefulness of our predictions using several validation experiments. Using eQTL data from several sources, including the Genotype-Tissue Expression project, the Geuvadis project and Twin-sUK cohort, we show that eQTLs in specific tissues tend to be most enriched among the predicted functional variants in relevant tissues in Roadmap. We further show how these integrated functional scores can be used to derive the most likely cell/tissue type causally implicated for a complex trait using summary statistics from genome-wide association studies, and estimate a tissue-based correlation matrix of various complex traits. We find large enrichment of heritability in functional components of relevant tissues for various complex traits, with FUN-LDA yielding the highest enrichment estimates relative to existing methods. Finally, using experimentally validated functional variants from the literature and variants possibly implicated in disease by previous studies, we rigorously compare FUN-LDA to state-of-the-art functional annotation methods such as GenoSky-line, ChromHMM, Segway, and IDEAS, and show that FUN-LDA has better prediction accuracy and higher resolution compared to these methods. In summary, we describe a new approach and perform rigorous comparisons with the most commonly used functional annotation methods, providing a valuable resource for the community interested in the functional annotation of noncoding variants. Scores for each position in the human genome and for each ENCODE/Roadmap tissue are available from http://www.columbia.edu/~ii2135/funlda.html.

Bioinformatics

Distinguishing genetic correlation from causation across 52 diseases and complex traits

Mendelian randomization (MR) is widely used to identify causal relationships among heritable traits, but it can be confounded by genetic correlations reflecting shared etiology. We propose a model in which a latent causal variable mediates the genetic correlation between two traits. Under the latent causal variable (LCV) model, trait 1 is fully genetically causal for trait 2 if it is perfectly genetically correlated with the latent causal variable, implying that the entire genetic component of trait 1 is causal for trait 2; it is partially genetically causal for trait 2 if it has a high genetic correlation with the latent variable, implying that part of the genetic component of trait 1 is causal for trait 2. To quantify the degree of partial genetic causality, we define the genetic causality proportion (gcp). We fit this model using mixed fourth moments E([Formula]12) and E([Formula]12) of marginal effect sizes for each trait, exploiting the fact that if trait 1 is causal for trait 2 then SNPs affecting trait 1 (large [Formula]) will have correlated effects on trait 2 (large 12), but not vice versa. We performed simulations under a wide range of genetic architectures and determined that LCV, unlike state-of-the-art MR methods, produced well-calibrated false positive rates and reliable gcp estimates in the presence of genetic correlations and asymmetric genetic architectures; we also determined that LCV is well-powered to detect a causal effect. We applied LCV to GWAS summary statistics for 52 traits (average N=331k), identifying partially or fully genetically causal effects (1% FDR) for 59 pairs of traits, including 30 pairs of traits with high gcp estimates (g[c]p > 0.6). Results consistent with the published literature included genetically causal effects on myocardial infarction (MI) for LDL, triglycerides and BMI. Novel findings included a genetically causal effect of LDL on bone mineral density, consistent with clinical trials of statins in osteoporosis. These results demonstrate that it is possible to distinguish between genetic correlation and causation using genetic data.

genetics

The ability of transcription factors to differentially regulate gene expression is a crucial component of the mechanism underlying inversion, a frequently observed genetic interaction pattern

Genetic interactions, a phenomenon whereby combinations of mutations lead to unexpected effects, reflect how cellular processes are wired and play an important role in complex genetic diseases. Understanding the molecular basis of genetic interactions is crucial for deciphering pathway organization as well as understanding the relationship between genetic variation and disease. Several putative molecular mechanisms have been linked to different genetic interaction types. However, differences in genetic interaction patterns and their underlying mechanisms have not yet been compared systematically between different functional gene classes. Here, differences in the occurrence and types of genetic interactions are compared for two classes, gene-specific transcription factors (GSTFs) and signaling genes (kinases and phosphatases). Genome-wide gene expression data for 63 single and double deletion mutants in bakers yeast reveals that the two most common genetic interaction patterns are buffering and inversion. Buffering is typically associated with redundancy and is well understood. In inversion, genes show opposite behavior in the double mutant compared to the corresponding single mutants. The underlying mechanism is poorly understood. Although both classes show buffering and inversion patterns, the prevalence of inversion is much stronger in GSTFs. To decipher potential mechanisms, a Petri Net modeling approach was employed, where genes are represented as nodes and relationships between genes as edges. This allowed over 9 million possible three and four node models to be exhaustively enumerated. The models show that a quantitative difference in interaction strength is a strict requirement for obtaining inversion. In addition, this difference is frequently accompanied with a second gene that shows buffering. Taken together, these results provide a mechanistic explanation for inversion. Furthermore, the ability of transcription factors to differentially regulate expression of their targets provides a likely explanation why inversion is more prevalent for GSTFs compared to kinases and phosphatases.\n\nAuthor SummaryThe relationship between genotype and phenotype is one of the major challenges in biology. While many previous studies have identified genes involved in complex genetic diseases, there is still a gap between genotype and phenotype. One of the difficulties in filling this gap has been attributed to genetic interactions. Large-scale studies have revealed that genetic interactions are widespread in model organisms such as bakers yeast. Several molecular mechanisms have been proposed for different genetic interaction types. However, differences in occurrence and underlying molecular mechanism of genetic interactions have not yet been compared between gene classes of different function. Here, we compared genetic interaction patterns identified using gene expression profiling for two classes of genes: gene specific transcription factors and signaling related genes. We modelled all possible molecular networks to unravel putative molecular differences underlying different genetic interaction patterns. Our study proposes a new mechanistic explanation for a certain genetic interaction pattern that is more strongly associated with transcription factors compared to signaling related genes. Overall, our findings and the computational methodologies implemented here can be valuable for understanding the molecular mechanisms underlying genetic interactions.

genetics

A genome resequencing-based genetic map reveals the recombination landscape of an outbred parasitic nematode in the presence of polyploidy and polyandry

The parasitic nematode Haemonchus contortus is an economically and clinically important pathogen of small ruminants, and a model system for understanding the mechanisms and evolution of traits such as anthelmintic resistance. Anthelmintic resistance is widespread and is a major threat to the sustainability of livestock agriculture globally; however, little is known about the genome architecture and parameters such as recombination that will ultimately influence the rate at which resistance may evolve and spread. Here we performed a genetic cross between two divergent strains of H. contortus, and subsequently used whole-genome re-sequencing of a female worm and her brood to identify the distribution of genome-wide variation that characterises these strains. Using a novel bioinformatic approach to identify variants that segregate as expected in a pseudo-testcross, we characterised linkage groups and estimated genetic distances between markers to generate a chromosome-scale F1 genetic map composed of 1,618 SNPs. We exploited this map to reveal the recombination landscape, the first for any parasitic helminth species, demonstrating extensive variation in recombination rate within and between chromosomes. Analyses of these data also revealed the extent of polyandry, whereby at least eight males were found to have contributed to the genetic variation of the progeny analysed. Triploid offspring were also identified, which we hypothesise are the result of nondisjunction during female meiosis or polyspermy. These results expand our knowledge of the genetics of parasitic helminths and the unusual life-history of H. contortus, and will enable more precise characterisation of the evolution and inheritance of genetic traits such as anthelmintic resistance. This study also demonstrates the feasibility of whole-genome resequencing data to directly construct a genetic map in a single generation cross from a non-inbred non-model organism with a complex lifecycle.\n\nAuthor summaryRecombination is a key genetic process, responsible for the generation of novel genotypes and subsequent phenotypic variation as a result of crossing over between homologous chromosomes. Populations of strongylid nematodes, such as the gastrointestinal parasites that infect livestock and humans, are genetically very diverse, but little is known about patterns of recombination across the genome and how this may contribute to the genetics and evolution of these pathogens. In this study, we performed a genetic cross to quantify recombination in the barbers pole worm, Haemonchus contortus, an important parasite of sheep and goats. The reproductive traits of this worm make standard genetic crosses challenging, but by generating whole-genome sequence data from a female worm and her offspring, we identified genetic variants that act as though they come from a single mating cross, allowing the use of standard statistical approaches to build a genetic map and explore the distribution and rates of recombination throughout the genome. A number of genetic signatures associated with H. contortus life history traits were revealed in this analysis: we extend our understanding of multiple paternity (polyandry) in this species, and provide evidence and explanation for sporadic increases in chromosome complements (polyploidy) among the progeny. The resulting genetic map will aid in population genomic studies in general and enhance ongoing efforts to understand the genetic basis of resistance to the drugs used to control these worms, as well as for related species that infect humans throughout the world.

genomics

Genomic Relatedness Strengthens Genetic Connectedness Across Management Units

Genetic connectedness refers to a measure of genetic relatedness across management units (e.g., herds and flocks). With the presence of high genetic connectedness in management units, best linear unbiased prediction (BLUP) is known to provide reliable comparisons between genetic values. Genetic connectedness has been studied for pedigree-based BLUP; however, relatively little attention has been paid to using genomic information to measure connectedness. In this study, we assessed genome-based connectedness across management units by applying prediction error variance of difference (PEVD), coefficient of determination (CD), and prediction error correlation (r) to a combination of computer simulation and real data (mice and cattle). We found that genomic information (G) increased the estimate of connectedness among individuals from different management units compared to that based on pedigree (A). A disconnected design benefited the most. In both datasets, PEVD and CD statistics inferred increased connectedness across units when using G- rather than A-based relatedness suggesting stronger connectedness. With r once using allele frequencies equal to one-half or scaling G to values between 0 and 2, which is intrinsic to A, connectedness also increased with genomic information. However, PEVD occasionally increased, and r decreased when obtained using the alternative form of G, instead suggesting less connectedness. Such inconsistencies were not found with CD. We contend that genomic relatedness strengthens measures of genetic connectedness across units and has the potential to aid genomic evaluation of livestock species.\n\nThe problem of connectedness or disconnectedness is particularly important in genetic evaluation of managed populations such as domesticated livestock. When selecting among animals from different management units (e.g., herds and flocks), caution is needed; choosing one animal over others across management units may be associated with greater uncertainty than selection within management units. Such uncertainty is reduced if individuals from different management units are genetically linked or connected. In such a case, best linear unbiased prediction (BLUP) offers meaningful comparison of the breeding values across management units for genetic evaluation (e.g., Kuehn et al., 2007).\n\nStructures of breeding programs have a direct influence on levels of connectedness. Wide use of artificial insemination (AI) programs generally increases genetic connectedness across management units. For example, dairy cattle populations are considered highly connected due to dissemination of genetic material from a small number of highly selected sires. The situation may be different for species with less use of AI and more use of natural service mating such as for beef cattle or sheep populations. Under these scenarios, the magnitude of connectedness across management units is reduced and genetic links are largely confined within management units.\n\nPedigree-based genetic connectedness has been evaluated and applied in practice (e.g., Kuehn et al., 2009; Eikje and Lewis, 2015). However, there is a relative paucity of use of genomic information such as single nucletide polymorphisms (SNPs) to ascertain connectedness. It still remains elusive in what scenarios genomics can strengthen connectedness and how much gain can be expected relative to use of pedigree information alone. Connectedness statistics have been used to optimize selective genotyping and phenotyping in simulated livestock (Pszczola et al., 2012) and plant populations (Maenhout et al., 2010), and in real maize (Rincent et al., 2012; Isidro et al., 2015), and real rice data (Isidro et al., 2015). These studies concluded that the greater the connectedness between the reference and validation populations, the greater the predictive performance. However, 1) connectedness among different management units and 2) differences in connectedness measures between pedigree and genomic relatedness were not explored in those studies. For better understanding of genome-based connectedness, it is critical to examine how the presence of management units comes into play. For instance, genomic relatedness provides relationships between distant individuals that appear disconnected according to the pedigree information. In addition, it captures Mendelian sampling that is not present in pedigree relationships (Hill and Weir, 2011). Thus, genomic information is expected to strengthen measures of connectedness, which in turn refines comparisons of genetic values across different management units. The objective of this study was to assess measures of genetic connectedness across management units with use of genomic information. We leveraged the combination of real data and computer simulation to compare gains in measures of connectedness when moving from pedigree to genomic relationships. First, we studied a heterogenous mice dataset stratified by cage. Then we investigated approaches to measure connectedness using real cattle data coupled with simulated management units to have greater control over the degree of confounding between fixed management groups and genetic relationships.

genetics

A Genome-Wide Association Analysis Reveals Epistatic Cancellation of Additive Genetic Variance for Root Length in Arabidopsis thaliana

Efforts to identify loci underlying complex traits generally assume that most genetic variance is additive. Here, we examined the genetics of Arabidopsis thaliana root length and found that the narrow-sense heritability for this trait was statistically zero. This low additive genetic variance likely explains why no associations to root length could be found using standard additive-model-based genome-wide association (GWA) approaches. However, the broad-sense heritability for root length was significantly larger, and we therefore also performed an epistatic GWA analysis to map loci contributing to the epistatic genetic variance. This analysis revealed four interacting pairs involving seven chromosomal loci that passed a standard multiple-testing corrected significance threshold. Explorations of the genotype-phenotype maps for these pairs revealed that the detected epistasis cancelled out the additive genetic variance, explaining why these loci were not detected in the additive GWA analysis. Small population sizes, such as in our experiment, increase the risk of identifying false epistatic interactions due to testing for associations with very large numbers of multi-marker genotypes in few phenotyped individuals. Therefore, we estimated the false-positive risk using a new statistical approach that suggested half of the associated pairs to be true positive associations. Our experimental evaluation of candidate genes within the seven associated loci suggests that this estimate is conservative; we identified functional candidate genes that affected root development in four loci that were part of three of the pairs. In summary, statistical epistatic analyses were found to be indispensable for confirming known, and identifying several new, functional candidate genes for root length using a population of wild-collected A. thaliana accessions. We also illustrated how epistatic cancellation of the additive genetic variance resulted in an insignificant narrow-sense, but significant broad-sense heritability that could be dissected into the contributions of several individual loci using a combination of careful statistical epistatic analyses and functional genetic experiments.\n\nAuthor summaryComplex traits, such as many human diseases or climate adaptation and production traits in crops, arise through the action and interaction of many genes and environmental factors. Classic approaches to identify contributing genes generally assume that these factors contribute mainly additive genetic variance. Recent methods, such as genome-wide association studies, often adhere to this additive genetics paradigm. However, additive models of complex traits do not reflect that genes can also contribute with non-additive genetic variance. In this study, we use Arabidopsis thaliana to determine the additive and non-additive genetic contributions to the phenotypic variation in root length. Surprisingly, much of the observed phenotypic variation in root length across genetically divergent strains was explained by epistasis. We mapped seven loci contributing to the epistatic genetic variance and validated four genes in these loci with mutant analysis. For three of these genes, this is their first implication in root development. Together, our results emphasize the importance of considering both non-additive and additive genetic variance when dissecting complex trait variation, in order not to lose sensitivity in genetic analyses.

Genomics