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Shimizu, K. K.

Publications and source records attributed to Shimizu, K. K..

At least 19 recordsLinked to original sources

Complex-valued representations of time-series gene expression profiles for network analysis

Time-series RNA sequencing provides a powerful framework for studying dynamic gene regulation, yet conventional analyses usually represent gene expression profiles as real-valued vectors in Euclidean space and quantify similarity using correlation or distance. Inspired by quantum information theory, we present a framework for encoding time-series gene expression profiles as complex-valued vectors comprising amplitude and phase components in Hilbert space. We designed multiple encoding models to represent gene expression in the amplitude of complex-valued vectors, encode temporal differences in the phase, and extend the phase representation to incorporate the direction of local expression changes. Gene-gene similarity was then quantified using fidelity, which measures the overlap between two encoded vectors. Evaluation using time-series RNA-seq datasets across diverse species and biological contexts showed that different encoding models produced distinct fidelity distributions that were related to, but distinct from, conventional correlation measures. We then constructed gene-gene networks using pairwise fidelity values and detected communities containing genes with similar temporal profiles. Although fidelity distributions differed across encoding models, the resulting communities captured major temporal expression programs, and functional annotations based on gene ontology and Kyoto encyclopedia of genes and genomes pathway analyses provided exploratory biological context. The detected communities were comparable to those obtained using conventional methods, including weighted correlation network analysis and fuzzy c-means clustering. Furthermore, as a proof-of-concept, we performed SWAP-test circuit simulations to mimic fidelity computation on a quantum computer; under noise-aware conditions, these simulations produced less accurate fidelity estimates with higher computational cost than classical computation. As a proof-of-concept, this study provides a complementary view of temporal transcriptome organization, rather than a uniformly superior alternative to conventional methods.

bioinformatics↗

Reduction of Pollen Number and Anther Length in Bread Wheat Studied by a Nested Association Mapping Population

The number of pollen grains, which carry male gametes in seed plants, has attracted interest in genetics, evolution, and breeding. Rapid evolutionary reductions in pollen number and anther length were reported in selfing species as well as domesticated species, although this poses a challenge for hybrid breeding. Here, we studied the variation of pollen number and anther length of the hexaploid bread wheat (Triticum aestivum) by employing a quick pollen counting method. Pollen numbers in cultivars were lower than those in landraces among 54 lines of diverse geographic origins. Using the year of registration of traditional and modern cultivars, we found a reduction in pollen number over the past 150 years. We detected high heritability and variation among Asian landraces and cultivars. Thus, we conducted QTL mapping of pollen number as well as of anther length using nested association mapping lines in which Norin 61 was the common parent. Genomic loci encompassing Green Revolution genes (Rht-B1, Rht-D1, and Ppd-D1) showed significant effects on pollen number and anther length, but their contributions were relatively minor. Although anther length has often been used as a proxy for pollen number in bread wheat, our data showed that their correlations are not necessarily high. Interestingly, we identified a new QTL of pollen number that was not detected by measuring anther length, and, vice versa, a new QTL specific to anther length. These data suggest that pollen number has reduced rapidly in bread wheat but can be modified using the genetic diversity of landraces. Significance statementWe found that modern cultivars of bread wheat have reduced pollen number and shorter anther length, which are common in domesticated species but can be a challenge for hybrid breeding. Using underutilized Asian landraces and cultivars, we reported that new quantitative trait loci as well as loci used in the Green Revolution, are responsible for the traits, which can be employed to increase pollen numbers.

plant biology↗

A moderated statistical test for detecting shifts in homeolog expression ratios in allopolyploids

Allopolyploids arise through hybridization between related species, carrying multiple sets of chromosomes from distinct progenitor, referred to as subgenomes. Within allopolyploids, duplicated genes across subgenomes, called homeologs, are thought to enhance environmental robustness by shifting their expression ratios depending on environmental and developmental changes. However, existing methods for detecting such ratio shifts, including HomeoRoq and Fishers exact test, are limited to allopolyploids with two subgenome sets inherited from two progenitors, and thus cannot handle more complex cases (e.g., allohexaploid wheat). Here, we present the HOmeolog Bias Identification Test (HOBIT), a statistical method for detecting shifts in homeolog expression ratios across different conditions using RNA-Seq count data. HOBIT performs a likelihood ratio test for each homeolog, comparing a full model allowing homeolog expression ratios to vary across conditions with a reduced model assuming constant ratios. Simulation benchmarks for allotetraploids and allohexaploids demonstrated that HOBIT outperforms existing methods in both area under the receiver operating characteristic curve and F1 score. Application to real RNA-Seq datasets from allotetraploid Cardamine flexuosa, allotriploid Cardamine insueta, and Triticum aestivum (wheat) produced biologically consistent results reflecting experimental settings. HOBIT provides a promising framework for uncovering homeolog regulation and adaptive responses in allopolyploids, without restrictions of ploidy complexities.

bioinformatics↗

Spatial heterogeneity of disease infection attributable to neighbor genotypic identity in barley cultivars

Pest damage exhibits considerable spatial heterogeneity among individual plants in the field. While such spatial heterogeneity has often been treated as a nuisance in crop breeding trials, underlying biotic factors and loci remain poorly understood. To quantify the spatial variation in disease infection and associate it with neighboring genotypes, we applied two methods, Spatial Analysis of Field Trials with Splines (SpATS) and Neighbor Genome-Wide Association Study (Neighbor GWAS), to barley cultivars. Having compiled the CIMMYT Australia ICARDA Germplasm Evaluation (CAIGE) data, we first applied SpATS to three disease phenotypes such as the net form net blotch, spot form net blotch, and scald damage. This SpATS analysis showed extraneous phenotypic variation unexplained by smooth spatial trends, thereby leading us to focus on neighboring genotypes as an extraneous biological factor. We then applied the Neighbor GWAS model and found that neighbor genotypic identity explained 0.1-0.3 fractional variation in the three disease phenotypes. The Neighbor GWAS method also detected two significant or marginally significant variants on the barley 7H chromosome, which were associated with neighbor genotypic influence on the net form net blotch and scald damage. These variants were estimated to have beneficial effects that reduce disease damage by their allelic mixtures. Our findings suggest that neighbor genotypic identity can account for spatial variation in disease infection, providing a key to reduce pest damage by variety mixtures in field crops.

plant biology↗

An inverse correlation between linguistic and genetic diversity

Human population history, as traced by our genome, has shaped the distribution of languages around the world. While case studies suggest that population history can also affect specific structures of languages, such as patterns in their sound systems and grammars, results are conflicting, and it remains unknown whether such effects hold globally. Here we show that, adjusting for geography, phylogeny, and environment, genetic diversity is inversely correlated with diversity in linguistic structures. Low genetic diversity (i.e. excess homozygosity) results from relative isolation, and this promotes diversification in language. High genetic diversity results from contact and migration, and this promotes homogenization in language. These effects are particularly pronounced in Asia and, under some conditions, also in a few other areas, suggesting sociocultural factors contributing to differences in how strongly isolation favors linguistic diversity and how strongly contact promotes linguistic homogenization. Our results suggest that present-day hotspots of linguistic diversity, which are characterized by relative isolation, may provide a privileged window on the dynamics of linguistic evolution as they are less affected by the vast demographic expansions, migrations, and extinctions that characterize the Neolithic age.

evolutionary biology↗

Global patterns of genetic admixture reveal effects of language contact

When speakers of different languages are in contact, they often borrow features like sounds, words, or syntactic patterns from one language to the other, but the lack of historical data has hampered estimation of this effect at a global scale. We break out of this impasse by using genetic admixture as a proxy for population contact. We find that language pairs whose speaker populations underwent genetic admixture or that are located in the same geo-historical area share more features than others, suggesting borrowing. The effect varies strongly across features, partly following expectations from differences in lifelong learnability, partly responding to differences in social imbalances during contact. Additionally, we find that for some features, admixture decreases sharing. This likely reflects signals of divergence (schismogenesis) under contact.

evolutionary biology↗

Modeling of transcriptomic variation among subgenomes in 25 accessions of common wheat reveals cis- and trans-regulation architectures

Common wheat is an allohexaploid plant, thus making it difficult to obtain homoeolog-distinguished transcriptome data. Lasy-Seq, a type of 3 RNA-seq, is efficient for obtaining homoeolog-distinguished transcriptomes and can thus overcome this measurement difficulty. This study obtained transcriptome data from the seedlings, second leaves, and root tips of 25 lines from mainly eastern transmitted area using Lasy-Seq. Roots and seedlings exhibited similar transcriptome profiles; however, they were different from those of the leaves. We determined the effects of subgenomes, lines and their interactions with leaves, roots, and seedlings on the expression levels of each homoeolog triad. Of the 19,805 homoeolog triads, 50.9-55.4%, 24.2-29.5%, and 7.7-9.0% showed significant effects on their expression levels from subgenome, line, and interaction, respectively. 51-55% and 24-30% have genetic variation in the cis- and trans-regulation. Hierarchical clustering and co-trans regulation network analysis of homoeolog triads revealed that the patterns of expression polymorphisms among the lines were shared in different genes. The triads in which the statistical model detected as line effects imply that expression variation between lines is caused by changes in a smaller number of common trans-factors. We assigned gene ontology (GO) terms of the Arabidopsis orthologs to wheat homoeolog triads via reciprocal BLAST between common wheat and Arabidopsis, thus improving the percentage of gene-assigned GO terms to all analyzed GO terms from 19.1% to 90.6%. GO term enrichment analysis revealed that GO terms related to each tissue type function were enriched in genes expressed in the leaves and roots. Our information provides fundamental knowledge for the future breeding of plants possessing complex gene regulatory networks such as common wheat.

plant biology↗

Genome-wide neighbor effects predict genotype pairs that reduce herbivory in mixed planting

Genetically diverse populations can increase plant resistance to natural enemies. Yet, beneficial genotype pairs remain elusive due to the occurrence of both positive and negative effects of mixed planting on plant resistance, called associational resistance and susceptibility. We used genome-wide polymorphisms of the plant species Arabidopsis thaliana to identify genotype pairs that enhance associational resistance to herbivory. By quantifying neighbor interactions among 199 genotypes grown in a randomized block design, we predicted that 823 of the 19,701 candidate pairs could reduce herbivory through associational resistance. We planted such pairs with predicted associational resistance in mixtures and monocultures and found a significant reduction in herbivore damage in the mixtures. Our study highlights the potential application to assemble genotype mixtures with positive biodiversity effects.

ecology↗

Hyper-Cryptic Radiation of a Tropical Montane Plant Lineage

Species are seen as the fundamental unit of biotic diversity, and thus their delimitation is crucial for defining measures for diversity assessments and studying evolution. Differences between species have traditionally been associated with variation in morphology. And yet, the discovery of cryptic diversity suggests that the evolution of distinct lineages does not necessarily involve trait differences. Here, we analyze 1,684,987 variant sites and over 4000 genes for more than 400 samples to show how a tropical montane plant lineage (Geonoma undata species complex) is composed of numerous unrecognized genetic groups that are not morphologically distinct. We find that 11 to 14 clades do not correspond to the three currently recognized species. Most clades are genetically independent and geographic distance and topography are the most important factors determining this genetic divergence. This lineage does not match the model of an adaptive radiation, but instead, constitutes the first example of a hyper-cryptic plant radiation in tropical mountains.

evolutionary biology↗

An improved genome assembly of the saguaro cactus (Carnegiea gigantea (Engelm.) Britton & Rose).

We present an improved genome assembly of the saguaro cactus (Carnegiea gigantea (Engelm.) Britton & Rose), obtained by incorporating long-read PacBio data to the existing short reads. The assembly improves in terms of total size, contiguity, and accuracy, allowing to extend the range of sequence analyses beyond the single-gene scale. Consequently, the assembly is 16% larger and has 20% more genes, expanding the resources for a neglected yet very remarkable plant family such as Cactaceae. Species taxonomyEukaryota; Viridiplantae; Streptophyta; Streptophytina; Embryophyta; Tracheophyta; Euphyllophyta; Spermatophyta; Magnoliopsida; Mesangiospermae; eudicotyledons; Gunneridae; Pentapetalae; Caryophyllales; Cactineae; Cactaceae; Cactoideae; Echinocereeae; Carnegiea gigantea (Engelm.) Britton & Rose) (also known as saguaro cactus) (NCBI txid: 171969).

genomics↗

PlantServation: time-series phenotyping using machine learning revealed seasonal pigment fluctuation in diploid and polyploid Arabidopsis

Long-term field monitoring of leaf pigment content is informative for understanding plant responses to environments distinct from regulated chambers, but is impractical by conventional destructive measurements. We developed PlantServation, a method incorporating robust image-acquisition hardware and deep learning-based software to analyze field images, where the plant shape, color, and background vary over months. We estimated the anthocyanin contents of small individuals of four Arabidopsis species using color information and verified the results experimentally. We obtained >4 million plant images over three field seasons to study anthocyanin fluctuations. We found significant effects of past radiation, coldness, and precipitation on the anthocyanin content in the field. The synthetic allopolyploid A. kamchatica recapitulated the fluctuations of natural polyploids by integrating diploid responses. The data support a long-standing hypothesis stating that allopolyploids can inherit and combine the traits of progenitors. PlantServation pipeline facilitates the study of plant responses to complex environments termed "in natura."

plant biology↗

Genome-wide association study highlights escape from aphids by delayed growth in Arabidopsis thaliana

Field studies have shown that plant phenological and architectural traits often explain substantial variation in herbivory. Although plant genes involved in physical and chemical defense are well studied, less is known about the genetic basis underlying effects of plant growth traits on herbivory. Here, we conducted a genome-wide association study (GWAS) of aphid abundance in a field population of Arabidopsis thaliana. This field GWAS detected a significant peak on the third chromosome of A. thaliana. Out of candidate genes near this significant genomic region, a mutant of a ribosomal gene (AT3G13882) exhibited slower growth and later flowering than a wild type under laboratory conditions. A no-choice assay with the turnip aphid, Lipaphis erysimi, found that aphids were unable to successfully establish on the mutant. These findings suggest the potential role of growth-related genes in altering herbivore abundance.

ecology↗

Detecting frequency-dependent selection through the effects of genotype similarity on fitness components

Frequency-dependent selection (FDS) drives an evolutionary regime that maintains or disrupts polymorphisms. Despite the increasing feasibility of genetic association studies on fitness components, there are a few methods to uncover the loci underlying FDS. Based on a simplified model of pairwise genotype-genotype interactions, we propose a linear regression that can infer FDS from observed fitness. The key idea behind our method is the inclusion of genotype similarity as a pseudo-trait in selection gradient analysis. Single-locus analysis of Arabidopsis and damselfly data could detect known negative FDS on visible polymorphism that followed Mendelian inheritance with complete dominance. By extending the singlelocus analysis to genome-wide association study (GWAS), our simulations showed that the regression coefficient of genotype similarity can distinguish negative or positive FDS without confounding other forms of balancing selection. Field GWAS of the branch number further revealed that negative FDS, rather than positive FDS, was enriched among the top-scoring single nucleotide polymorphisms (SNPs) in Arabidopsis thaliana. These results showed the wide applicability of our method for FDS on both visible polymorphism and genome-wide SNPs. Our study provides an effective method for selection gradient analysis to understand the maintenance or loss of polymorphism.

evolutionary biology↗

The UV RESISTANCE LOCUS 8-Mediated UV-B Response Is Required Alongside CRYPTOCHROME1 For Plant Survival Under Sunlight In The Field

As sessile organisms, plants are subjected to fluctuating sunlight including potentially detrimental ultraviolet-B radiation (UV-B). In Arabidopsis thaliana, experiments under controlled conditions have shown that UV RESISTANCE LOCUS 8 (UVR8) controls photomorphogenic responses for acclimation and tolerance to UV-B; however, its long-term impacts on plant performance remain poorly understood in naturally fluctuating environments. Here we quantified the survival and reproduction of different Arabidopsis mutant genotypes in diverse field and laboratory conditions. We found that uvr8 mutants produced more fruits than wild type in growth chambers with artificial low UV-B conditions but not in natural field conditions. Importantly, independent double mutants of UVR8 and the blue-light photoreceptor gene CRYPTOCHROME 1 (CRY1) in two genetic backgrounds showed a drastic reduction in fitness in the field. UV-B attenuation experiments in field conditions and supplemental UV-B in growth chambers demonstrated that UV-B caused the conditional cry1 uvr8 lethality phenotype. RNA sequencing in different conditions revealed a large number of genes with statistical interaction of UVR8 and CRY1 mutations in the presence of UV-B in the field. Among them, Gene Ontology analysis identified enrichment of categories related to UV-B response, oxidative stress, photoprotection and DNA damage repair. Our study demonstrates the functional importance of the UVR8-mediated response across life stages in natura, which is partially redundant with CRY1, and provides an integral picture of gene expression associated with plant environmental responses under diverse environmental conditions.

plant biology↗

Using a two-stage convolutional neural network to rapidly identify tiny herbivorous beetles in the field

Recently, deep convolutional neural networks (CNN) have been adopted to help beginners identify insect species from field images. However, the application of these methods on the identification of tiny congeneric species moving across heterogeneous background remains difficult. To enable rapid and automatic identification in the field, we customized a method involving real-time object detection of two Phyllotreta beetles. We first performed data augmentation using transformations, syntheses, and random erasing of the original images. We then proposed a two-stage method for the detection and identification of small insects based on CNN, where YOLOv4 and EfficientNet were used as a region proposal network and a re-identification method, respectively. Evaluation of the model revealed that one-step object detection by YOLOv4 alone was not precise (Precision = 0.55) when classifying two species of flea beetles and background objects. In contrast, the two-step CNNs improved the precision (Precision = 0.89) with moderate accuracy (F-measure = 0.55) and acceptable speed (ca. 5 frames per second for full HD images) of detection and identification of insect species in the field. Although real-time identification of tiny insects remains a challenge in the field, our method aids in improving small object detection on a heterogeneous background.

ecology↗

ARPEGGIO: Automated Reproducible Polyploid EpiGenetic GuIdance workflOw

Whole genome duplication (WGD) events are common in the evolutionary history of many living organisms. For decades, researchers have been trying to understand the genetic and epigenetic impact of WGD and its underlying molecular mechanisms. Particular attention was given to allopolyploid study systems, species resulting from an hybridization event accompanied by WGD. Investigating the mechanisms behind the survival of a newly formed allopolyploid highlighted the key role of DNA methylation. With the improvement of high-throughput methods, such as whole genome bisulfite sequencing (WGBS), an opportunity opened to further understand the role of DNA methylation at a larger scale and higher resolution. However, only a few studies have applied WGBS to allopolyploids, which might be due to lack of genomic resources combined with a burdensome data analysis process. To overcome these problems, we developed the Automated Reproducible Polyploid EpiGenetic GuIdance workflOw (ARPEGGIO): the first workflow for the analysis of epigenetic data in polyploids. This workflow analyzes WGBS data from allopolyploid species via the genome assemblies of the allopolyploids parent species. ARPEGGIO utilizes an updated read classification algorithm (EAGLE-RC), to tackle the challenge of sequence similarity amongst parental genomes. ARPEGGIO offers automation, but more importantly, a complete set of analyses including spot checks starting from raw WGBS data: quality checks, trimming, alignment, methylation extraction, statistical analyses and downstream analyses. A full run of ARPEGGIO outputs a list of genes showing differential methylation. ARPEGGIOs design focuses on ease of use and reproducibility. ARPEGGIO was made simple to set up, run and interpret, and its implementation includes both package management and containerization. Here we discuss all the steps, challenges and implementation strategies; example datasets are provided to show how to use ARPEGGIO. In addition, we also test EAGLE-RC with publicly available datasets given a ground truth, and we show that EAGLE-RC decreases the error rate by 3 to 4 times compared to standard approaches. The goal of ARPEGGIO is to promote, support and improve polyploid research with a reproducible and automated set of analyses in a convenient implementation.

bioinformatics↗

A recently formed triploid Cardamine insueta inherits leaf vivipary and submergence tolerance traits of parents

Contemporary speciation provides a unique opportunity to directly observe the traits and environmental responses of a new species. Cardamine insueta is an allotriploid species that appeared within the past 150 years in a Swiss village, Urnerboden. In contrast to its two progenitor species, C. amara and C. rivularis that live in wet and open habitats, respectively, C. insueta is found in-between their habitats with temporal water level fluctuation. This triploid species propagates clonally and serves as a triploid bridge to form higher ploidy species. Although niche separation is observed in field studies, the mechanisms underlying the environmental robustness of C. insueta are not clear. To characterize responses to a fluctuating environment, we performed a time-course analysis of homeolog gene expression in C. insueta in response to submergence treatment. For this purpose, the two parental (C. amara and C. rivularis) genome sequences were assembled with a reference-guided approach, and homeolog-specific gene expression was quantified by using HomeoRoq software. We found that C. insueta and C. rivularis initiated vegetative propagation by forming ectopic meristems on leaves, while C. amara did not. We examined homeolog-specific gene expression of three species at nine time points during the treatment. The genome-wide expression ratio of homeolog pairs was 2:1 over the time-course, consistent with the ploidy number. By searching the genes with high coefficient of variation of expression over time-course transcriptome data, we found many known key transcriptional factors related to meristem development and formation upregulated in both C. rivularis and rivularis-homeolog of C. insueta, but not in C. amara. Moreover, some amara-homeologs of these genes were also upregulated in the triploid, suggesting trans-regulation. In turn, Gene Ontology analysis suggested that the expression pattern of submergence tolerant genes in the triploid was inherited from C. amara. These results suggest that the triploid C. insueta combined advantageous patterns of parental transcriptomes to contribute to its establishment in a new niche along a water-usage gradient.

plant biology↗

Genomic signals of admixture and reinforcement between two closely related species of European sepsid flies

Interspecific gene flow by hybridization may weaken species barriers and adaptive divergence, but can also initiate reinforcement of reproductive isolation trough natural and sexual selection. The extent of interspecific gene flow and its consequences for the initiation and maintenance of species barriers in natural systems remain poorly understood, however. To assess genome-wide patterns of gene flow between the two closely related European dung fly species Sepsis cynipsea and Sepsis neocynipsea (Diptera: Sepsidae), we tested for historical gene flow with the aid of ABBA-BABA test using whole-genome resequencing data from pooled DNA of male specimens originating from natural and laboratory populations. We contrasted genome-wide variation in DNA sequence differences between samples from sympatric populations of the two species in France and Switzerland with that of interspecific differences between pairs of samples involving allopatric populations from Estonia and Italy. In the French Cevennes, we detected a relative excess of DNA sequence identity, suggesting interspecific gene flow in sympatry. In contrast, at two sites in Switzerland, we observed a relative depletion of DNA sequence identity compatible with reinforcement of species boundaries in sympatry. Our results suggest that the species boundaries between S. cynipsea and S. neocynipsea in Europe depend on the eco-geographic context.

evolutionary biology↗