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Biology subjects

Booker, W. W.

Publications and source records attributed to Booker, W. W..

6 recordsLinked to original sources

Conditional genome-wide associations reveal novel genes

We introduce two novel approaches for gene discovery based on conditional genome-wide associations. Experimental validation of gene targets identified by our top-performing approach uncovers three genes with a previously unknown role in controlling flowering time in Arabidopsis, one of the most well-studied traits in the most well-studied plant genome. This work demonstrates the power of knockoff-based frameworks to uniquely identify novel genes underlying complex traits, a core task across applications in agriculture and human health.

genomics↗

Recombination and the role of pseudo-overdominance in polyploid evolution

Natural selection is an imperfect force that can under some conditions fail to prevent the buildup of deleterious mutations. Small population sizes and the lack of recombination are two such scenarios that reduce the efficiency of selection. Under these conditions, the disconnect between deleterious genetic load and individual fitness due to the masking of recessive deleterious mutations in heterozygous individuals may result in the emergence of pseudo-overdominance, wherein the buildup of haplotypes with complementary sets of deleterious mutations results in apparent heterozygote advantage and an increase in linked neutral diversity. In polyploids, the presence of additional allelic copies magnifies this masking effect and may therefore increase the probability of pseudo-overdominance. Here, we simulate the evolution of small diploid and autotetraploid populations to identify the conditions that support the evolution of pseudo-overdominance. We discover that pseudo-overdominance evolves under a much wider range of parameters in autotetraploids than in diploids with identical population sizes, and that in many parts of parameter space there is an inverse relationship between fitness and recombination rate. These results imply that pseudo-overdominance may be more common than previously thought. We conclude by discussing the current evidence for pseudo-overdominance in species with polyploid histories, as well as its implications in agriculture due to the prevalence of polyploidy in crops. ARTICLE SUMMARYPseudo-overdominance is an extreme evolutionary phenomenon in which low recombination rates result in the buildup of alternative mutations on disparate haplotypes, rendering recombination events maladaptive because they disrupt the masking of recessive deleterious alleles. In polyploids, additional chromosomes accentuate this masking effect, potentially increasing the likelihood of pseudo-overdominance. We used forward-in-time simulations to test the hypothesis that polyploids are more likely to experience pseudo-overdominance-and find strong evidence in support of this hypothesis. Our results have implications for the evolution of recombination rates in all species, the evolution of polyploids generally, and the efficacy of selection in polyploid crops.

genetics↗

The genetic consequences of range expansion and its influence on diploidization in polyploids

Despite newly formed polyploids being subjected to myriad fitness consequences, the relative prevalence of polyploidy both contemporarily and in ancestral branches of the tree of life suggests alternative advantages that outweigh these consequences. One proposed advantage is that polyploids may more easily colonize novel habitats such as deglaciated areas. However, previous research conducted in diploids suggests that range expansion comes with a fitness cost as deleterious mutations may fix rapidly on the expansion front. Here, we interrogate the potential consequences of expansion in polyploids by conducting spatially explicit forward-in-time simulations to investigate how ploidy and inheritance patterns impact the relative ability of polyploids to expand their range. We show that under realistic dominance models, autopolyploids suffer greater fitness reductions than diploids as a result of range expansion due to the fixation of increased mutational load that is masked in the range core. Alternatively, the disomic inheritance of allopolyploids provides a shield to this fixation resulting in minimal fitness consequences. In light of this advantage provided by disomy, we investigate how range expansion may influence cytogenetic diploidization through the reversion to disomy in autotetraploids. We show that under a wide range of parameters investigated for two models of diploidization, disomy frequently evolves more rapidly on the expansion front than in the range core, and that this dynamic inheritance model has additional effects on fitness. Together our results point to a complex interaction between dominance, ploidy, inheritance, and recombination on fitness as a population spreads across a geographic range.

evolutionary biology↗

Biogeography and the evolution of acoustic communication in the polyploid North American gray treefrog complex

After polyploid species are formed, interactions between diploid and polyploid lineages may generate additional diversity in novel cytotypes and phenotypes. In anurans, mate choice by acoustic communication is the primary method by which individuals identify their own species and assess suitable mates. As such, the evolution of acoustic signals is an important mechanism for contributing to reproductive isolation and diversification in this group. Here, we estimate the biogeographic history of the North American gray treefrog complex, consisting of the diploid Hyla chrysoscelis and the tetraploid Hyla versicolor, focusing specifically on the geographic origin of whole genome duplication and the expansion of lineages out of glacial refugia. We then test for lineage-specific differences in mating signals by applying comparative methods to a large acoustic data set collected over 52 years that includes >1500 individual frogs. Along with describing the overall biogeographic history and call diversity, we found evidence that the geographic origin of H. versicolor and the formation of the midwestern polyploid lineage are both associated with glacial limits, and that the southwestern polyploid lineage is associated with a shift in acoustic phenotype relative to the diploid lineage with which they share a mitochondrial lineage. In H. chrysoscelis, we see that acoustic signals are largely split by Eastern and Western lineages, but that northward expansion along either side of the Appalachian Mountains is associated with further acoustic diversification. Overall, results of this study provide substantial clarity on the evolution of gray treefrogs as it relates to their biogeography and acoustic communication.

evolutionary biology↗

This population doesn't exist: learning the distribution of evolutionary histories with generative adversarial networks

Numerous studies over the last decade have demonstrated the utility of machine learning methods when applied to population genetic tasks. More recent studies show the potential of deep learning methods in particular, which allow researchers to approach problems without making prior assumptions about how the data should be summarized or manipulated, instead learning their own internal representation of the data in an attempt to maximize inferential accuracy. One type of deep neural network, called Generative Adversarial Networks (GANs), can even be used to generate new data, and this approach has been used to create individual artificial human genomes free from privacy concerns. In this study, we further explore the application of GANs in population genetics by designing and training a network to learn the statistical distribution of population genetic alignments (i.e. data sets consisting of sequences from an entire population sample) under several diverse evolutionary histories--the first GAN capable of performing this task. After testing multiple different neural network architectures, we report the results of a fully differentiable Deep-Convolutional Wasserstein GAN with gradient penalty that is capable of generating artificial examples of population genetic alignments that successfully mimic key aspects of the training data, including the site frequency spectrum, differentiation between populations, and patterns of linkage disequilibrium. We demonstrate consistent training success across various evolutionary models, including models of panmictic and subdivided populations, populations at equilibrium and experiencing changes in size, and populations experiencing either no selection or positive selection of various strengths, all without the need for extensive hyperparameter tuning. Overall, our findings highlight the ability of GANs to learn and mimic population genetic data and suggest future areas where this work can be applied in population genetics research that we discuss herein.

evolutionary biology↗

The complex history of genome duplication andhybridization in North American gray treefrogs

Polyploid speciation has played an important role in evolutionary history across the tree of life, yet there remain large gaps in our understanding of how polyploid species form and persist. While systematic studies have been conducted in numerous polyploid complexes, recent advances in sequencing technology have demonstrated that conclusions from data-limited studies may be spurious and misleading. The North American gray treefrog complex, consisting of the diploid Hyla chrysoscelis and the tetraploid Hyla versicolor, has long been used as a model system in a variety of biological fields, yet all taxonomic studies to date were conducted with only a few loci from nuclear and mitochondrial genomes. Here, we utilized anchored hybrid enrichment and high-throughput sequencing to capture hundreds of loci along with whole mitochondrial genomes to investigate the evolutionary history of this complex. We used several phylogenetic and population genetic methods, including coalescent simulations and testing of polyploid speciation models with Approximate Bayesian Computation (ABC), to determine that H. versicolor was most likely formed via autopolyploidization from a now extinct lineage of H. chrysoscelis. We also uncovered evidence of significant hybridization between diploids and tetraploids where they co-occur, and show that historical hybridization between these groups led to the re-formation of distinct polyploid lineages following the initial whole genome duplication event. Our study indicates that a wide variety of methods and explicit model testing of polyploid histories can greatly facilitate efforts to uncover the evolutionary history of polyploid complexes.

genomics↗