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Stitzer, M. C.

Publications and source records attributed to Stitzer, M. C..

At least 19 recordsLinked to original sources

A transcriptomic atlas of grass senescence reveals divergent underground sink networks limit nitrogen recycling in annuals

Senescence enables plants to remobilize and recycle nutrients from aging organs to support growth, reproduction, and survival. In annual crops like maize, nitrogen remobilization from leaves to grain is incomplete, with 30-50% of nitrogen stranded in aboveground tissues and subject to environmental loss. Mitigating nitrogen loss in annual crops could be achieved by leveraging the physiological strategies of perennial grasses, which remobilize nitrogen and other nutrients into underground organs at the end of the growing season, thereby preventing environmental leakage. To uncover the molecular basis of perennial nitrogen recycling to underground organs, we built a transcriptomic atlas from field-grown plants, comprising 2,685 RNA-seq libraries from 14 grass species within the Panicoideae (Poaceae), utilizing maize and sorghum as annual references for comparative analyses. The atlas spans leaves, roots, stalks, and rhizomes across two seasons, from mid-growing season to senescence. Using a photosynthetic index to align the leafs transition from nitrogen sink to source across species, co-expression network analysis revealed that the subnetworks driving leaf nitrogen recycling are preserved across annuals and perennials. However, we discovered that the subnetworks associated with underground sink establishment, specifically those associated with seed-like dormancy and desiccation tolerance pathways, have diverged among annual crop accessions. Our work identifies conserved gene candidates and networks that could be used to reintroduce perennial-like nutrient recycling into annual crops to enhance long-term nutrient retention in the field.

plant biology↗

Identification of Freezing Tolerance QTLs in Tripsacum dactyloides Using Open-Pollinated Bulk Segregant Analysis

This study investigates the genetic basis of freezing tolerance in Tripsacum dactyloides and related subspecies as a potential source of valuable traits for improving maize agriculture. Recognizing the significant economic losses in corn yields due to frost damage, we hypothesized that northern populations of T. dactyloides are enriched for freezing tolerance alleles. 40 diverse Tripsacum accessions were collected from natural populations and long-established field collections and used to generate F1 hybrids and open-pollinated F2 families. F2 seedlings were germinated then screened within a growth chamber for freezing tolerance by exposure to freezing temperatures. Seedlings were then phenotyped by tissue survival, and extremes were pooled to create tolerant and susceptible bulks. DNA sequencing was performed on founders, F1s, and tolerant/susceptible F2 bulks. To overcome challenges in traditional SNP calling in bulked samples, we developed a regression-based approach to estimate gamete frequencies and impute allele frequencies in pooled populations. The results showed genetic diversity among Tripsacum accessions, with divergence between northern and southern populations. We tracked segregation of alleles across genomic loci, and performed a joint bulk segregant analysis, identifying 9 QTLs significantly associated with freezing tolerance. These findings highlight potential loci for freezing tolerance that could inform genetic engineering of maize. Central HypothesisNorthern populations of Tripsacum dactyloides, a wild relative of maize, are enriched for freezing tolerance alleles which can be identified by mapping.

genomics↗

The origins and adaptive consequences of polyploidy in a dominant prairie grass

Polyploidy is ubiquitous across North American prairies, which provide essential ecosystem services and rich soil for agriculture. Yet the mechanism driving polyploid abundance is unclear. Multiple hypotheses have been proposed including polyploid abundance is proportional to the opportunity for whole genome duplication (WGD), and WGD alters phenotypes that may increase fitness. We tested these two hypotheses together in the mixed-ploidy species Andropogon gerardi, a dominant grass species in endangered North American tallgrass prairies. Leveraging a novel, phased allopolyploid reference genome, we found the A. gerardi hexaploid arose after the C4 grassland expansion in the early Pleistocene, when glacial cycles likely increased secondary contact between the diploid progenitors. We sequenced A. gerardi from 25 popula-tions and examined cytotype performance and morphology in a controlled environment to investigate the consequences of the contemporary mixed-ploidy populations. We found the 9x A. gerardi cytotype is a neopolyploid and a result of recurrent WGD events. Further, we demonstrate the 9x neopolyploids have greater growth and a decreased stomatal pore index, which is adaptive in xeric climates where the 9x cy-totype is most common. Together, our results support both hypotheses for polyploid abundance in North America: WGD is a product of opportunity and can have immediate fitness consequences. Although the changes to fitness may provide an advantage to 9x A. gerardi, the establishment of 9x may lower overall population fitness due to the lower reproductive viability of 9x individuals. Significance statementPolyploid species are abundant in North American prairies and make up many of the dominant species in the ecosystem. This prominence could be a result of whole genome duplication conferring an advantage that increases the frequency of polyploids or could simply indicate that the opportunity for whole genome duplication is higher in this ecosystem, or both. Through examining three polyploidization events in A. gerardi, the dominant species in endangered tallgrass North American prairies, we found whole genome duplication is both surprisingly common and confers traits that are beneficial in some environments.

plant biology↗

GeneCAD: Plant Genome Annotation with a DNA Foundation Model

Accurate genome annotation is fundamental to biological discovery, yet identifying gene structures directly from DNA sequence remains a major challenge in complex genomes. We introduce GeneCAD, a sequence-only framework that predicts biologically coherent gene models without requiring species-matched transcriptomic or proteomic evidence. GeneCAD integrates lineage-specific DNA representations from the PlantCAD2 foundation model with a transformer encoder and a chromosome-scale conditional random field (CRF) to enforce structural constraints, such as splice-phase and feature order. To ensure high-quality supervision, we implement a curation strategy using a sequence-based masked-motif score to filter reference transcripts. As a primary validation across diverse angiosperms, including a complex allotetraploid, GeneCAD improves transcript F1 by approximately 9% over current tools like Helixer and BRAKER3, while sharpening boundary precision and achieving a best-in-class recovery of 86% of classical coding sequences. Furthermore, we demonstrate the frameworks modularity by adapting it to animal lineages through the substitution of the underlying DNA foundation model. While the long introns of vertebrates challenge full transcript reconstruction, the model remains highly effective at identifying individual exons. By connecting evolutionary signals with structured decoding, GeneCAD provides a versatile and scalable solution for high-fidelity genome annotation across the Tree of Life. Graphical Abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=102 SRC="FIGDIR/small/685877v3_ufig1.gif" ALT="Figure 1"> View larger version (33K): org.highwire.dtl.DTLVardef@5dd348org.highwire.dtl.DTLVardef@1da37daorg.highwire.dtl.DTLVardef@188ef17org.highwire.dtl.DTLVardef@108da0c_HPS_FORMAT_FIGEXP M_FIG C_FIG Lay SummaryIdentifying where genes are located within a genome is a major challenge in biology, especially in plants with large and repetitive DNA. Current methods often rely on expensive laboratory data or struggle to find genes in "noisy" regions. We developed GeneCAD, a deep-learning tool that identifies genes using only the raw DNA sequence. By using AI models that recognize patterns shaped by millions of years of evolution, GeneCAD predicts gene structures with high accuracy and consistency. Our tests show that GeneCAD outperforms existing tools in plants and can be easily adapted for use in other species, including animals. By removing the need for costly lab experiments, GeneCAD provides an affordable way for researchers to quickly map the genomes of everything from rare wild plants to essential food crops.

bioinformatics↗

High-Quality Draft Genome Assemblies and Comparative Genomics of Three Bouteloua Species (Poaceae: Chloridoideae)

Bouteloua is a PACMAD grass genus that dominates much of the central and southern North American prairies and plains, where species such as sideoats grama (B. curtipendula), blue grama (B. gracilis), and black grama (B. eriopoda) are both ecologically dominant and among the most valuable forage grasses of arid rangelands. Yet, genomic resources for the genus remain limited. We generated PacBio HiFi draft assemblies for B. curtipendula (653 Mb, N50 25.5 Mb), B. gracilis (808 Mb, N50 4.1 Mb), and B. eriopoda (1.67 Gb, N50 1.0 Mb). All assemblies showed >98.5% BUSCO completeness. Helixer predicted 83,877-215,536 gene models per assembly. However, syntenic copy numbers (2 in B. curtipendula, 3 in B. gracilis, and 6 in B. eriopoda) indicate that at least two species are polyploid, and the inflated gene model counts likely reflect homeologous copies and fragmented predictions rather than true gene numbers. panEDTA identified 25-40% transposable-element content, dominated by LTR retrotransposons. These assemblies provide foundational genomic references for Bouteloua and support comparative studies across PACMAD grasses.

plant biology↗

Extensive modulation of a conserved cis-regulatory code across 589 grass species

The growing availability of genomes from non-model organisms offers new opportunities to identify functional loci underlying trait variation through comparative genomics. While cis-regulatory regions drive much of phenotypic evolution, linking them to specific functions remains challenging. We identified 514 cis-regulatory motifs enriched in regulatory regions of five diverse grass species, with 73% consistently enriched across all, suggesting a deeply conserved regulatory code. We then quantified conservation of specific motif instances across 589 grass species, revealing widespread gain and loss over evolutionary time. Conservation declined rapidly over the first few million years of divergence, yet [~]50% of motif instances were conserved back to the origin of grasses [~]100 million years ago. Conservation patterns varied by gene class, with modestly higher conservation at transcription factor genes. To test for adaptive cis-regulatory changes, we used phylogenetic mixed models to identify motif gains and losses associated with ecological niche transitions. Our models revealed polygenic adaptation across 810 motif-orthogroup combinations, including convergent gains of HSF/GARP motifs at an Alpha-N-acetylglucosaminidase gene associated with adaptation to temperate environments. Our results support a "stable code, variable sites" model in which cis-regulatory evolution involves extensive turnover of individual binding site instances while largely preserving transcription factors binding preferences. Cis-regulatory changes at hundreds to thousands of genes appear to contribute to environmental adaptation. Our results highlight the potential of comparative genomics and phylogenetic mixed models to reveal the genetic basis of complex traits.

genomics↗

Extensive genome evolution distinguishes maize within a stable tribe of grasses

Over the last 20 million years, the Andropogoneae tribe of grasses has evolved to dominate 17% of global land area. Domestication of these grasses in the last 10,000 years has yielded our most productive crops, including maize, sugarcane, and sorghum. The majority of Andropogoneae species, including maize, show a history of polyploidy - a condition that, while offering the evolutionary advantage of multiple gene copies, poses challenges to basic cellular processes, gene expression, and epigenetic regulation. Genomic studies of polyploidy have been limited by sparse sampling of taxa in groups with multiple polyploidy events. Here, we present 33 genome assemblies from 27 species, including chromosome-scale assemblies of maize relatives Zea and Tripsacum. In maize, the after-effects of polyploidy have been widely studied, showing reduced chromosome number, biased fractionation of duplicate genes, and transposable element (TE) expansions. While we observe these patterns within the genus Zea, 12 other polyploidy events deviate significantly. Those tetraploids and hexaploids retain elevated chromosome number, maintain nearly complete complements of duplicate genes, and have only stochastic TE amplifications. These genomes reveal variable outcomes of polyploidy, challenging simple predictions and providing a foundation for understanding its evolutionary implications in an ecologically and economically important clade.

evolutionary biology↗

Maize and wild relatives show distinct patterns of genome downsizing following polyploidy

Plant genomes are smaller than expected despite the ubiquity of polyploidy due to the process of genome downsizing called fractionation. This process causes loss of DNA sequences, including genes, until genomes return to a diploid-like state, though some duplicates remain from the polyploid ancestor. Fractionation can affect the copies of ancestral diploid genomes (i.e., subgenomes) differently, resulting in one being preferentially retained and the other preferentially lost. While previous work suggested fractionation occurs shortly after a polyploidy event, few studies have been able to densely sample descendent genomes from the same whole genome duplication event. The Tripsacinae subtribe of grasses, which includes the genera Tripsacum and Zea and the economically and culturally important maize (Zea mays ssp. mays), originates from an ancient allopolyploid ([~]5-12 MYA). We use publicly available genome assemblies from the Tripsacinae subtribe of grasses to investigate the patterns and timing of fractionation relative to the outgroup sorghum, which does not share the allotetraploidy event. Our results show the majority of fractionation following polyploidy occurred in a common ancestor of modern species and that one subgenome is preferentially retained, in keeping with previous studies of maize. However, Tripsacum retains a greater proportion of duplicate genes (homoeologs) than Zea, potentially related to the fewer chromosomal rearrangements observed in this genus. Multiple, nested deletion events were commonly observed in alignments to a single sorghum reference exon, and some homoeologs show fractionation of different exons across genomes. Further, [~]35% of homoeologous pairs of exons show differential fractionation, where fractionation patterns differ between species. Altogether, this suggests multiple origins of fractionation for a given homoeolog may be common. We demonstrate that fractionation is a much more dynamic process in the Tripsacinae than previously predicted.

genomics↗

Cross-species plant genomes modeling at single nucleotide resolution using a pre-trained DNA language model

Interpreting function and fitness effects in diverse plant genomes requires transferable models. Language models (LMs) pre-trained on large-scale biological sequences can learn evolutionary conservation and offer cross-species prediction better than supervised models through fine-tuning limited labeled data. We introduce PlantCaduceus, a plant DNA LM based on the Caduceus and Mamba architectures, pre-trained on a curated dataset of 16 Angiosperm genomes. Fine-tuning PlantCaduceus on limited labeled Arabidopsis data for four tasks, including predicting translation initiation/termination sites and splice donor and acceptor sites, demonstrated high transferability to 160 million year diverged maize, outperforming the best existing DNA LM by 1.45 to 7.23-fold. PlantCaduceus is competitive to state-of-the-art protein LMs in terms of deleterious mutation identification, and is threefold better than PhyloP. Additionally, PlantCaduceus successfully identifies well-known causal variants in both Arabidopsis and maize. Overall, PlantCaduceus is a versatile DNA LM that can accelerate plant genomics and crop breeding applications.

bioinformatics↗

Muller's Ratchet in Action: The Erosion of Sexual Reproduction Genes in Domesticated Cassava (Manihot esculenta)

Centuries of clonal propagation in cassava (Manihot esculenta) have engaged Mullers Ratchet, leading to the accumulation of deleterious mutations due to the absence of sexual recombination. This has resulted in both inbreeding depression affecting yield and a significant decrease in reproductive performance, creating hurdles for contemporary breeding programs. Cassava is a member of the Euphorbiaceae family, including notable species such as rubber tree (Hevea brasiliensis) and poinsettia (Euphorbia pulcherrima). Expanding upon preliminary draft genomes, we annotated 7 long-read genome assemblies and aligned a total of 52 genomes, to analyze selection across the genome and the phylogeny. Through this comparative genomic approach, we identified 48 genes under relaxed selection in cassava. Notably, we discovered an overrepresentation of floral expressed genes, especially focused at six pollen-related genes. Our results indicate that domestication and a transition to clonal propagation has reduced selection pressures on sexually reproductive functions in cassava leading to an accumulation of mutations in pollen-related genes. This relaxed selection and the genome-wide deleterious mutations responsible for inbreeding depression are potential targets for improving cassava breeding, where the generation of new varieties relies on recombining favorable alleles through sexual reproduction.

evolutionary biology↗

Fishing for a reelGene: evaluating gene models with evolution and machine learning

Assembled genomes and their associated annotations have transformed our study of gene function. However, each new assembly generates new gene models. Inconsistencies between annotations likely arise from biological and technical causes, including pseudogene misclassification, transposon activity, and intron retention from sequencing of unspliced transcripts. To evaluate gene model predictions, we developed reelGene, a pipeline of machine learning models focused on (1) transcription boundaries, (2) mRNA integrity, and (3) protein structure. The first two models leverage sequence characteristics and evolutionary conservation across related taxa to learn the grammar of conserved transcription boundaries and mRNA sequences, while the third uses conserved evolutionary grammar of protein sequences to predict whether a gene can produce a protein. Evaluating 1.8 million gene models in maize, reelGene found that 28% were incorrectly annotated or nonfunctional. By leveraging a large cohort of related species and through learning the conserved grammar of proteins, reelGene provides a tool for both evaluating gene model accuracy and genome biology.

genomics↗

Transposable element abundance subtly contributes to lower fitness in maize

Transposable elements (TEs) have long been shown to have deleterious effects on the survival and reproduction of their host organism. As TEs are mobile DNA that jump to new positions, this deleterious cost can occur directly, by inserting into genes and regulatory sequences. Classical population genetic theory suggests copy-number dependent selection against TEs is necessary to prevent TEs from expanding so much they take over a genome. Such models have been difficult to interpret when applied to large genomes like maize, where there are hundreds of thousands of TE insertions that collectively make up 85% of the genome. Here, we use nearly 5000 inbred lines from maize mapping populations and a pan-genomic imputation approach to measure TE content. Segregating TE content gives rise to 100 Mb differences between individuals, and populations often show transgressive segregation in TE content. We use replicated phenotypes measured in hybrids across numerous years and environments to empirically measure the fitness costs of TEs. For an annual plant like maize, grain yield is not only a key agronomic phenotype, but also a direct measure of reproductive output. We find weak negative effects of TE accumulation on grain yield, nearing the limit of the efficacy of natural selection in maize. This results in a loss of one kernel ({approx}0.1% of average per-plant yield) for every additional 14 Mb of TE content. This deleterious load is enriched in TEs within 1 kilobase of genes and young TE insertions. Together, we provide rare empirical measurements of the fitness costs of TEs, and suggest that the TEs we see today in the genome have been filtered by selection against their deleterious consequences on maize fitness.

evolutionary biology↗

Combined analysis of transposable elements and structural variation in maize genomes reveals genome contraction outpaces expansion

BackgroundStructural differences between genomes are a major source of genetic variation that contributes to phenotypic differences. Transposable elements, mobile genetic sequences capable of increasing their copy number and propagating themselves within genomes, can generate structural variation. However, their repetitive nature makes it difficult to characterize fine-scale differences in their presence at specific positions, limiting our understanding of their impact on genome variation. Domesticated maize is a particularly good system for exploring the impact of transposable element proliferation as over 70% of the genome is annotated as transposable elements. High-quality transposable element annotations were recently generated for de-novo genome assemblies of 26 diverse inbred maize lines. ResultsWe generated base-pair resolved pairwise alignments between the B73 maize reference genome and the remaining 25 inbred maize line assemblies. From this data, we classified transposable elements as either shared or polymorphic in a given pairwise comparison. Our analysis uncovered substantial structural variation between lines, representing both putative insertion and deletion events. Putative insertions in SNP depleted regions, which represent recently diverged identity by state blocks, suggest some TE families may still be active. However, our analysis reveals that, genome-wide, deletions of transposable elements account for more structural variation than insertions. These deletions are often large structural variants containing multiple transposable elements. ConclusionsCombined, our results highlight how transposable elements contribute to structural variation and demonstrate that deletion events are a major contributor to genomic differences.

genomics↗

Controlling for variable transposition rate with an age-adjusted site frequency spectrum

Recognition of the important role of transposable elements (TEs) in eukaryotic genomes quickly led to a burgeoning literature modeling and estimating the effects of selection on TEs. Much of the empirical work on selection has focused on analyzing the site frequency spectrum (SFS) of TEs. But TEs differ from standard evolutionary models in a number of ways that can impact the power and interpretation of the SFS. For example, rather than mutating under a clock-like model, transposition often occurs in bursts which can inflate particular frequency categories compared to expectations under a standard neutral model. If a TE burst has been recent, the excess of low frequency polymorphisms can mimic the effect of purifying selection. Here, we investigate how transposition bursts affect the frequency distribution of TEs and the correlation between age and allele frequency. Using information on the TE age distribution, we propose an age-adjusted site frequency spectrum to compare TEs and neutral polymorphisms to more effectively evaluate whether TEs are under selective constraints. We show that our approach can minimize instances of false inference of selective constraint, but also allows for a correct identification of even weak selection affecting TEs which experienced a transposition burst and is robust to at least simple demographic changes. The results presented here will help researchers working on TEs to more reliably identify the effects of selection on TEs without having to rely on the assumption of a constant transposition rate.

genetics↗

AnchorWave: sensitive alignment of genomes with high diversity, structural polymorphism and whole-genome duplication variation

Millions of species are currently being sequenced and their genomes are being compared. Many of them have more complex genomes than model systems and raised novel challenges for genome alignment. Widely used local alignment strategies often produce limited or incongruous results when applied to genomes with dispersed repeats, long indels, and highly diverse sequences. Moreover, alignment using many-to-many or reciprocal best hit approaches conflicts with well-studied patterns between species with different rounds of whole-genome duplication or polyploidy levels. Here we introduce AnchorWave, which performs whole-genome duplication informed collinear anchor identification between genomes and performs base-pair resolution global alignments for collinear blocks using the wavefront algorithm and a 2-piece affine gap cost strategy. This strategy enables AnchorWave to precisely identify multi-kilobase indels generated by transposable element (TE) presence/absence variants (PAVs). When aligning two maize genomes, AnchorWave successfully recalled 87% of previously reported TE PAVs between two maize lines. By contrast, other genome alignment tools showed almost zero power for TE PAV recall. AnchorWave precisely aligns up to three times more of the genome than the closest competitive approach, when comparing diverse genomes. Moreover, AnchorWave recalls transcription factor binding sites (TFBSs) at a rate of 1.05-74.85 fold higher than other tools, while with significantly lower false positive alignments. AnchorWave shows obvious improvement when applied to genomes with dispersed repeats, active transposable elements, high sequence diversity and whole-genome duplication variation. Significance statementOne fundamental analysis needed to interpret genome assemblies is genome alignment. Yet, accurately aligning regulatory and transposon regions outside of genes remains challenging. We introduce AnchorWave, which implements a genome duplication informed longest path algorithm to identify collinear regions and performs base-pair resolved, end-to-end alignment for collinear blocks using an efficient 2-piece affine gap cost strategy. AnchorWave improves alignment of partially synthetic and real genomes under a number of scenarios: genomes with high similarity, large genomes with high TE activity, genomes with many inversions, and alignments between species with deeper evolutionary divergence and different whole-genome duplication histories. Potential use cases for the method include genome comparison for evolutionary analysis of non-genic sequences and population genetics of taxa with complex genomes.

genomics↗

Double triage to identify poorly annotated genes in Maize: The missing link in community curation

The sophistication of gene prediction algorithms and the abundance of RNA-based evidence for the maize genome may suggest that manual curation of gene models is no longer necessary. However, quality metrics generated by the MAKER-P gene annotation pipeline identified 17,225 of 130,330 (13%) protein-coding transcripts in the B73 Reference Genome V4 gene set with models of low concordance to available biological evidence. Working with eight graduate students, we used the Apollo annotation editor to curate 86 transcript models flagged by quality metrics and a complimentary method using the Gramene gene tree visualizer. All of the triaged models had significant errors - including missing or extra exons, non-canonical splice sites, and incorrect UTRs. A correct transcript model existed for about 60% of genes (or transcripts) flagged by quality metrics; we attribute this to the convention of elevating the transcript with the longest coding sequence (CDS) to the canonical, or first, position. The remaining 40% of flagged genes resulted in novel annotations and represent a manual curation space of about 10% of the maize genome (~4,000 protein-coding genes). MAKER-P metrics have a specificity of 100%, and a sensitivity of 85%; the gene tree visualizer has a specificity of 100%. Together with the Apollo graphical editor, our double triage provides an infrastructure to support the community curation of eukaryotic genomes by scientists, students, and potentially even citizen scientists.

bioinformatics↗

The Genomic Ecosystem of Transposable Elements in Maize

Transposable elements (TEs) constitute the majority of flowering plant DNA, reflecting their tremendous success in subverting, avoiding, and surviving the defenses of their host genomes to ensure their selfish replication. More than 85% of the sequence of the maize genome can be ascribed to past transposition, providing a major contribution to the structure of the genome. Evidence from individual loci has informed our understanding of how transposition has shaped the genome, and a number of individual TE insertions have been causally linked to dramatic phenotypic changes. But genome-wide analyses in maize and other taxa have frequently represented TEs as a relatively homogeneous class of fragmentary relics of past transposition, obscuring their evolutionary history and interaction with their host genome. Using an updated annotation of structurally intact TEs in the maize reference genome, we investigate the family-level ecological and evolutionary dynamics of TEs in maize. Integrating a variety of data, from descriptors of individual TEs like coding capacity, expression, and methylation, as well as similar features of the sequence they inserted into, we model the relationship between these attributes of the genomic environment and the survival of TE copies and families. Our analyses reveal a diversity of ecological strategies of TE families, each representing the evolution of a distinct ecological niche allowing survival of the TE family. In contrast to the wholesale relegation of all TEs to a single category of junk DNA, these differences generate a rich ecology of the genome, suggesting families of TEs that coexist in time and space compete and cooperate with each other. We conclude that while the impact of transposition is highly family- and context-dependent, a family-level understanding of the ecology of TEs in the genome can refine our ability to predict the role of TEs in generating genetic and phenotypic diversity. Lumping our beautiful collection of transposons into a single category is a crime -Michael R. Freeling, Mar. 10, 2017

evolutionary biology↗

Transposable elements contribute to dynamic genome content in maize

Transposable elements (TEs) are ubiquitous components of eukaryotic genomes and can create variation in genomic organization. The majority of maize genomes are composed of TEs. We developed an approach to define shared and variable TE insertions across genome assemblies and applied this method to four maize genomes (B73, W22, Mo17, and PH207). Among these genomes we identified 1.6 Gb of variable TE sequence representing a combination of recent TE movement and deletion of previously existing TEs. Although recent TE movement only accounted for a portion of the TE variability, we identified 4,737 TEs unique to one genome with defined insertion sites in all other genomes. Variable TEs are found for all superfamilies and are distributed across the genome, including in regions of recent shared ancestry among individuals. There are 2,380 genes annotated in the B73 genome located within variable TEs, providing evidence for the role of TEs in contributing to the substantial differences in gene content among these genotypes. The large scope of TE variation present in this limited sample of temperate maize genomes highlights the major contribution of TEs in driving variation in genome organization and gene content. Significance StatementThe majority of the maize genome is comprised of transposable elements (TEs) that have the potential to create genomic variation within species. We developed a method to identify shared and non-shared TEs using whole genome assemblies of four maize inbred lines. Variable TEs are found throughout the maize genome and in comparisons of any two genomes we find ~20% of the genome is due to non-shared TEs. Several thousand maize genes are found within TEs that are variable across lines, highlighting the contribution of TEs to gene content variation. This study creates a comprehensive resource for genomic studies of TE variability among four maize genomes, which will enable studies on the consequences of variable TEs on genome function.

genomics↗