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At least 523 records · Page 29

The first two chromosome‐scale genome assemblies of American hazelnut enable comparative genomic analysis of the genus Corylus

Summary The native, perennial shrub American hazelnut ( Corylus americana ) is cultivated in the Midwestern United States for its significant ecological benefits, as well as its high‐value nut crop. Implementation of modern breeding methods and quantitative genetic analyses of C. americana requires high‐quality reference genomes, a resource that is currently lacking. We therefore developed the first chromosome‐scale assemblies for this species using the accessions ‘Rush’ and ‘Winkler’. Genomes were assembled using HiFi PacBio reads and Arima Hi‐C data, and Oxford Nanopore reads and a high‐density genetic map were used to perform error correction. N50 scores are 31.9 Mb and 35.3 Mb, with 90.2% and 97.1% of the total genome assembled into the 11 pseudomolecules, for ‘Rush’ and ‘Winkler’, respectively. Gene prediction was performed using custom RNAseq libraries and protein homology data. ‘Rush’ has a BUSCO score of 99.0 for its assembly and 99.0 for its annotation, while ‘Winkler’ had corresponding scores of 96.9 and 96.5, indicating high‐quality assemblies. These two independent assemblies enable unbiased assessment of structural variation within C. americana , as well as patterns of syntenic relationships across the Corylus genus. Furthermore, we identified high‐density SNP marker sets from genotyping‐by‐sequencing data using 1343 C. americana , C. avellana and C. americana × C. avellana hybrids, in order to assess population structure in natural and breeding populations. Finally, the transcriptomes of these assemblies, as well as several other recently published Corylus genomes, were utilized to perform phylogenetic analysis of sporophytic self‐incompatibility (SSI) in hazelnut, providing evidence of unique molecular pathways governing self‐incompatibility in Corylus .

54 ENVIRONMENTAL SCIENCES↗

Observing stellar coronae with the Goddard High Resolution Spectrograph. 1: The dMe star AU microscopoii

We report on an observation of AU Mic taken with the Goddard High Resolution Spectrograph (GHRS) aboard the Hubble Space Telescope. The data consist of a rapid sequence of spectra covering the wavelength range 1345-1375 A with a spectral resolution of 10,000. The observations were originally intended to search for spectral variations during flares. No flares were detected during the 3.5 hr of monitoring. A method of reducing the noise while combining the individual spectra in the time series is described which resulted in the elimination of half of the noise while rejecting only a small fraction of the stellar signal. The resultant spectrum was of sufficient quality to allow the detection of emission lines with an integrated flux of 10(exp -15) ergs/sq cm(sec) or greater. Lines of C I, O I, O V, Cl I, and Fe XXI were detected. This is the first indisputable detection of the 1354 A Fe XXI line, formed at T approximately = 10(exp 7) K, on a star other than the Sun. The line was well resolved and displayed no significant bulk motions or profile asymmetry. From the upper limit on the observed line width, we derive an upper limit of 38 km/s for the turbulent velocity in the 10(exp 7) K plasma. An upper limit is derived for the flux of the 1349 A Fe XII line, formed at T approximately = 1.3 x 10(exp 6) K. These data are combined with contemporaneous GHRS and International Ultraviolet Explorer (IUE) data to derive the volume emission measure distribution of AU Mic over the temperature range 10(exp 4)-10(exp 7) K. Models of coronal loops in hydrostatic equilibrium are consistent with the observed volume emission measures of the coronal lines. The fraction of the stellar surface covered by the footprints of the loops depends upon the loop length and is less than 14% for lengths smaller than the stellar radius. From the upper limit to the estimated width of the Fe XXI line prfile we find that the we cannot rule out Alfven wave dissipation as a possible contributor to the required quiescent loop heating rate.

Maran, S. P.↗

Differences and Similarities between Summer and Winter Temperatures and Winds during MaCWAVE

The Mountain and Convective Waves Ascending Vertically Experiment (MaCWAVE) was carried out in two sequences: one during the summer from the Andoya Rocket Range (69N) during July 2002 to examine convective initiation of gravity waves. The second was a winter sequence from ESRANGE (68N) during January 2003 to examine mountain-initiated waves. Inflatable falling spheres released from small meteorological rockets provided significant information about the variation of temperature and wind from 50 km and higher. The small rocket launch activity was restricted to 12-hour periods that inhibited observing a full diurnal cycle, nonetheless, the time-history of the measurements have provided information about tidal motion. During summer, temperature variation was smaller than observed during winter when peak differences reached 15-20 K at 80-85 km. variation in zonal winds varied up to more than 100 mps in summer and winter. Times of wind vs. altitude showed that the peak zonal component occurred approximately two hours ahead of the peak meridional wind. Measurement details and the observed variations are discussed.

Schmidlin, F. J.↗

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

Abstract Background Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo noncoding variation has been observable as a general increase in genetic burden but has yet to be resolved to individual functional elements. In this study, we assessed whole-genome sequencing data in 2671 families with autism (discovery cohort of 516 families, replication cohort of 2155 families). We focused on DNVs in enhancers with characterized in vivo activity in the brain and identified an excess of DNVs in an enhancer named hs737. Results We adapted the fitDNM statistical model to work in noncoding regions and tested enhancers for excess of DNVs in families with autism. We found only one enhancer (hs737) with nominal significance in the discovery (p = 0.0172), replication (p = 2.5 × 10 −3 ), and combined dataset (p = 1.1 × 10 −4 ). Each individual with a DNV in hs737 had shared phenotypes including being male, intact cognitive function, and hypotonia or motor delay. Our in vitro assessment of the DNVs showed they all reduce enhancer activity in a neuronal cell line. By epigenomic analyses, we found that hs737 is brain-specific and targets the transcription factor gene EBF3 in human fetal brain. EBF3 is genome-wide significant for coding DNVs in NDDs (missense p = 8.12 × 10 −35 , loss-of-function p = 2.26 × 10 −13 ) and is widely expressed in the body. Through characterization of promoters bound by EBF3 in neuronal cells, we saw enrichment for binding to NDD genes (p = 7.43 × 10 −6 , OR = 1.87) involved in gene regulation. Individuals with coding DNVs have greater phenotypic severity (hypotonia, ataxia, and delayed development syndrome [HADDS]) in comparison to individuals with noncoding DNVs that have autism and hypotonia. Conclusions In this study, we identify DNVs in the hs737 enhancer in individuals with autism. Through multiple approaches, we find hs737 targets the gene EBF3 that is genome-wide significant in NDDs. By assessment of noncoding variation and the genes they affect, we are beginning to understand their impact on gene regulatory networks in NDDs.

59 BASIC BIOLOGICAL SCIENCES↗

Cryptic genetic structure and copy-number variation in the ubiquitous forest symbiotic fungus Cenococcum geophilum

Ectomycorrhizal (ECM) fungi associated with plants constitute one of the most successful symbiotic interactions in forest ecosystems. ECM support trophic exchanges with host plants and are important factors for the survival and stress resilience of trees. However, ECM clades often harbour morpho-species and cryptic lineages, with weak morphological differentiation. How this relates to intraspecific genome variability and ecological functioning is poorly known. Here, we analysed 16 European isolates of the ascomycete Cenococcum geophilum, an extremely ubiquitous forest symbiotic fungus with no known sexual or asexual spore-forming structures but with a massively enlarged genome. We carried out whole-genome sequencing to identify single-nucleotide polymorphisms. We found no geographic structure at the European scale but divergent lineages within sampling sites. Evidence for recombination was restricted to specific cryptic lineages. Lineage differentiation was supported by extensive copy-number variation. Finally, we confirmed heterothallism with a single MAT1 idiomorph per genome. Synteny analyses of the MAT1 locus revealed substantial rearrangements and a pseudogene of the opposite MAT1 idiomorph. Our study provides the first evidence for substantial genome-wide structural variation, lineage-specific recombination and low continent-wide genetic differentiation in C. geophilum. Our study provides a foundation for targeted analyses of intra-specific functional variation in this major symbiosis.

54 ENVIRONMENTAL SCIENCES↗

Soil incubation methods lead to large differences in inferred methane production temperature sensitivity

Abstract Quantifying the temperature sensitivity of methane (CH 4 ) production is crucial for predicting how wetland ecosystems will respond to climate warming. Typically, the temperature sensitivity (often quantified as a Q 10 value) is derived from laboratory incubation studies and then used in biogeochemical models. However, studies report wide variation in incubation-inferred Q 10 values, with a large portion of this variation remaining unexplained. Here we applied observations in a thawing permafrost peatland (Stordalen Mire) and a well-tested process-rich model ( ecosys ) to interpret incubation observations and investigate controls on inferred CH 4 production temperature sensitivity. We developed a field-storage-incubation modeling approach to mimic the full incubation sequence, including field sampling at a particular time in the growing season, refrigerated storage, and laboratory incubation, followed by model evaluation. We found that CH 4 production rates during incubation are regulated by substrate availability and active microbial biomass of key microbial functional groups, which are affected by soil storage duration and temperature. Seasonal variation in substrate availability and active microbial biomass of key microbial functional groups led to strong time-of-sampling impacts on CH 4 production. CH 4 production is higher with less perturbation post-sampling, i.e. shorter storage duration and lower storage temperature. We found a wide range of inferred Q 10 values (1.2–3.5), which we attribute to incubation temperatures, incubation duration, storage duration, and sampling time. We also show that Q 10 values of CH 4 production are controlled by interacting biological, biochemical, and physical processes, which cause the inferred Q 10 values to differ substantially from those of the component processes. Terrestrial ecosystem models that use a constant Q 10 value to represent temperature responses may therefore predict biased soil carbon cycling under future climate scenarios.

54 ENVIRONMENTAL SCIENCES↗

Rapid evolution of cis-regulatory sequences via local point mutations

Although the evolution of protein-coding sequences within genomes is well understood, the same cannot be said of the cis-regulatory regions that control transcription. Yet, changes in gene expression are likely to constitute an important component of phenotypic evolution. We simulated the evolution of new transcription factor binding sites via local point mutations. The results indicate that new binding sites appear and become fixed within populations on microevolutionary timescales under an assumption of neutral evolution. Even combinations of two new binding sites evolve very quickly. We predict that local point mutations continually generate considerable genetic variation that is capable of altering gene expression.

Non-NASA Center↗

Population structure in the model grass Brachypodium distachyon is highly correlated with flowering differences across broad geographic areas

The small, annual grass Brachypodium distachyon (L.) Beauv., a close relative of wheat ( Triticum aestivum L.) and barley ( Hordeum vulgare L.), is a powerful model system for cereals and bioenergy grasses. Genome-wide association studies (GWAS) of natural variation can elucidate the genetic basis of complex traits but have been so far limited in B. distachyon by the lack of large numbers of well-characterized and sufficiently diverse accessions. Here, we report on genotyping-by-sequencing (GBS) of 84 B. distachyon , seven B. hybridum , and three B. stacei accessions with diverse geographic origins including Albania, Armenia, Georgia, Italy, Spain, and Turkey. Over 90,000 high-quality single-nucleotide polymorphisms (SNPs) distributed across the Bd21 reference genome were identified. Our results confirm the hybrid nature of the B. hybridum genome, which appears as a mosaic of B. distachyon -like and B. stacei -like sequences. Analysis of more than 50,000 SNPs for the B. distachyon accessions revealed three distinct, genetically defined populations. Surprisingly, these genomic profiles are associated with differences in flowering time rather than with broad geographic origin. High levels of differentiation in loci associated with floral development support the differences in flowering phenology between B. distachyon populations. Genome-wide association studies combining genotypic and phenotypic data also suggest the presence of one or more photoperiodism, circadian clock, and vernalization genes in loci associated with flowering time variation within B. distachyon populations. As a result, our characterization elucidates genes underlying population differences, expands the germplasm resources available for Brachypodium , and illustrates the feasibility and limitations of GWAS in this model grass.

09 BIOMASS FUELS↗

Leveraging single-cell genomics to expand the fungal tree of life

Environmental DNA surveys reveal that most fungal diversity represents uncultured species. We sequenced the genomes of eight uncultured species across the fungal tree of life using a new single-cell genomics pipeline. We show that, despite a large variation in genome and gene space recovery from each single amplified genome (SAG), ≥90% can be recovered by combining multiple SAGs. SAGs provide robust placement for early-diverging lineages and infer a diploid ancestor of fungi. Early-diverging fungi share metabolic deficiencies and show unique gene expansions correlated with parasitism and unculturability. Single-cell genomics holds great promise in exploring fungal diversity, life cycles and metabolic potential.

59 BASIC BIOLOGICAL SCIENCES↗

Constraining Stellar Parameters and Atmospheric Dynamics of the Carbon AGB star V Oph

Molecules and dust produced by the atmospheres of cool evolved stars contribute to a significant amount of the total material found in the interstellar medium. To understand the mechanism behind the mass loss of these stars, it is of pivotal importance to investigate the structure and dynamics of their atmospheres. Our goal is to verify if the extended molecular and dust layers of the carbon-rich asymptotic giant branch (AGB) star V Oph, and their time variations, can be explained by dust-driven winds triggered by stellar pulsation alone, or if other mechanisms are in play. We model V Oph mid-infrared interferometric VLTI-MIDI data (8–13 μm), at phases 0.18, 0.49, and 0.65, together with literature photometric data, using the latest-generation self-consistent dynamic atmosphere models for carbon-rich stars: DARWIN. We determine the fundamental stellar parameters: T(eff) = 2600 K, L(bol) = 3585 L⊙, M = 1.5 M⊙, C/O = 1.35, Mass flow rate= 2.50 x 10(exp -6) M⊙/yr. We calculate the stellar photospheric radii at the three phases: 479, 494, 448 R⊙; and the dust radii: 780, 853, 787 R⊙. The dynamic models can fairly explain the observed N-band visibility and spectra, although there is some discrepancy between the data and the models, which is discussed in the text. We discuss the possible causes of the temporal variations of the outer atmosphere, deriving an estimate of the magnetic field strength, and computing upper limits for the Alfvén waves velocity. In addition, using period–luminosity sequences, and interferometric modeling, we suggest V Oph as a candidate to be reclassified as a semi-regular star.

Gioia Rau↗

Comparative genomic and transcriptomic analyses of trans-kingdom pathogen Fusarium solani species complex reveal degrees of compartmentalization

Background: The Fusarium solani species complex (FSSC) comprises fungal pathogens responsible for mortality in a diverse range of animals and plants, but their genome diversity and transcriptome responses in animal pathogenicity remain to be elucidated. We sequenced, assembled and annotated six chromosome-level FSSC clade 3 genomes of aquatic animal and plant host origins. We established a pathosystem and investigated the expression data of F. falciforme and F. keratoplasticum in Chinese softshell turtle (Pelodiscus sinensis) host. Results: Comparative analyses between the FSSC genomes revealed a spectrum of conservation patterns in chromosomes categorised into three compartments: core, fast-core (FC), and lineage-specific (LS). LS chromosomes contribute to variations in genomes size, with up to 42.2% of variations between F. vanettenii strains. Each chromosome compartment varied in structural architectures, with FC and LS chromosomes contain higher proportions of repetitive elements with genes enriched in functions related to pathogenicity and niche expansion. We identified differences in both selection in the coding sequences and DNA methylation levels between genome features and chromosome compartments which suggest a multi-speed evolution that can be traced back to the last common ancestor of Fusarium. We further demonstrated that F. falciforme and F. keratoplasticum are opportunistic pathogens by inoculating P. sinensis eggs and identified differentially expressed genes also associated with plant pathogenicity. These included the most upregulated genes encoding the CFEM (Common in Fungal Extracellular Membrane) domain. Conclusions: The high-quality genome assemblies provided new insights into the evolution of FSSC chromosomes, which also serve as a resource for studies of fungal genome evolution and pathogenesis. This study also establishes an animal model for fungal pathogens of trans-kingdom hosts.

59 BASIC BIOLOGICAL SCIENCES↗

Discovering Innovations in Stress Tolerance through Comparative Gene Regulatory Network Analysis and Cell-Type Specific Expression Maps (Final Technical Report with Cover Page)

Through this grant, we developed a comparative framework to elucidate the mechanisms behind variations in environmental stress responses among a diverse group of species within the Brassicaceae family. Our focus was on the differences in physiological and transcriptomic responses to abscisic acid (ABA), a hormone associated with water stress. We examined the differential growth responses of four Brassicaceae species, finding that most exhibited reduced root growth correlated with smaller meristem size. In contrast, Schrenkiella parvula showed accelerated growth due to increased root cell elongation. We employed RNA sequencing to analyze the transcriptional responses to ABA across these species, and innovative bioinformatics techniques were used to pinpoint biological pathways with significant divergence. Additionally, we utilized DAP-seq to map the gene regulatory networks associated with ABAresponsive transcription factors, revealing that variations in the regulation of growth hormone biosynthesis play a critical role in the distinct ABA effects on root growth among the species. This research sets a new standard for comparative physiology by integrating comparative genomics and transcriptomics to uncover pathway divergences.

59 BASIC BIOLOGICAL SCIENCES↗

Variation in Membrane Trafficking Linked to SNARE AtSYP51 Interaction With Aquaporin NIP1;1

SYP51 and 52 are the two members of the SYP5 Qc-SNARE gene family in Arabidopsis thaliana. These two proteins, besides their high level of sequence identity (85%), have shown to have differential functional specificity and possess a different interactome. Here we describe a unique and specific interaction of SYP51 with an ER aquaporin, AtNIP1;1 (also known as NLM1) indicated to be able to transport arsenite [As(III)] and previously localized on PM. In the present work we investigate in detail such localization in vivo and characterize the interaction with SYP51. We suggest that this interaction may reveal a new mechanism regulating tonoplast invagination and recycling. We propose this interaction to be part of a regulatory mechanism associated with direct membrane transport from ER to tonoplast and Golgi mediated vesicle trafficking.We also demonstrate that NIP1;1 is important for plant tolerance to arsenite but does not alter its uptake or translocation. To explain such phenomenon the hypothesis that SYP51/NIP1;1 interaction modifies ER and vacuole ability to accumulate arsenite is discussed.

59 BASIC BIOLOGICAL SCIENCES↗

Learning the mechanisms of chemical disequilibria

When at equilibrium, large-scale systems obey thermodynamics because they have microscopic configurations that are typical. “Typical” states are a fraction of those possible with the majority of the probability. A more precise definition of typical states underlies the transmission, coding, and compression of information. However, this definition does not apply to natural systems that are transiently away from equilibrium. Here, we introduce a variational measure of typicality and apply it to atomistic simulations of a model for hydrogen oxidation. While a gaseous mixture of hydrogen and oxygen combusts, reactant molecules transform through a variety of ephemeral species en route to the product, water. Out of the exponentially growing number of possible sequences of chemical species, we find that greater than 95% of the probability concentrates in less than 1% of the possible sequences. Overall, these results extend the notion of typicality across the nonequilibrium regime and suggest that typical sequences are a route to learning mechanisms from experimental measurements. They also open up the possibility of constructing ensembles for computing the macroscopic observables of systems out of equilibrium.

37 INORGANIC, ORGANIC, PHYSICAL, AND ANALYTICAL CH↗

Advanced data assimilation in strongly nonlinear dynamical systems

Advanced data assimilation methods are applied to simple but highly nonlinear problems. The dynamical systems studied here are the stochastically forced double well and the Lorenz model. In both systems, linear approximation of the dynamics about the critical points near which regime transitions occur is not always sufficient to track their occurrence or nonoccurrence. Straightforward application of the extended Kalman filter yields mixed results. The ability of the extended Kalman filter to track transitions of the double-well system from one stable critical point to the other depends on the frequency and accuracy of the observations relative to the mean-square amplitude of the stochastic forcing. The ability of the filter to track the chaotic trajectories of the Lorenz model is limited to short times, as is the ability of strong-constraint variational methods. Examples are given to illustrate the difficulties involved, and qualitative explanations for these difficulties are provided. Three generalizations of the extended Kalman filter are described. The first is based on inspection of the innovation sequence, that is, the successive differences between observations and forecasts; it works very well for the double-well problem. The second, an extension to fourth-order moments, yields excellent results for the Lorenz model but will be unwieldy when applied to models with high-dimensional state spaces. A third, more practical method--based on an empirical statistical model derived from a Monte Carlo simulation--is formulated, and shown to work very well. Weak-constraint methods can be made to perform satisfactorily in the context of these simple models, but such methods do not seem to generalize easily to practical models of the atmosphere and ocean. In particular, it is shown that the equations derived in the weak variational formulation are difficult to solve conveniently for large systems.

Miller, Robert N.↗

Whole-Genome Resequencing to Evaluate Life History Variation in Anadromous Migration of Oncorhynchus mykiss

Anadromous fish experience physiological modifications necessary to migrate between vastly different freshwater and marine environments, but some species such as Oncorhynchus mykiss demonstrate variation in life history strategies with some individuals remaining exclusively resident in freshwater, whereas others undergo anadromous migration. Because there is limited understanding of genes involved in this life history variation across populations of this species, we evaluated the genomic difference between known anadromous ( n = 39) and resident ( n = 78) Oncorhynchus mykiss collected from the Klickitat River, WA, USA, with whole-genome resequencing methods. Sequencing of these collections yielded 5.64 million single-nucleotide polymorphisms that were tested for significant differences between resident and anadromous groups along with previously identified candidate gene regions. Although a few regions of the genome were marginally significant, there was one region on chromosome Omy12 that provided the most consistent signal of association with anadromy near two annotated genes in the reference assembly: COP9 signalosome complex subunit 6 (CSN6) and NACHT, LRR, and PYD domain–containing protein 3 (NLRP3). Previously identified candidate genes for anadromy within the inversion region of chromosome Omy05 in coastal steelhead and rainbow trout were not informative for this population as shown in previous studies. Results indicate that the significant region on chromosome Omy12 may represent a minor effect gene for male anadromy and suggests that this life history variation in Oncorhynchus mykiss is more strongly driven by other mechanisms related to environmental rearing such as epigenetic modification, gene expression, and phenotypic plasticity. Further studies into regulatory mechanisms of this trait are needed to understand drivers of anadromy in populations of this protected species.

Collins, Erin E.↗

A Cassini ISS Search for Regolith-Texture Variations on Tethys

On October 28, 2004 the Cassini spacecraft flew within 255,500km of Saturn's heavily-cratered icy moon, Tethys. The ISS Narrow Angle Camera (NAC) obtained its first closeup multi-color images of Tethys at a Voyager-comparable spatial resolution of 1.5 km/pixel. The imaging sequence provided 23 NAC images covering 10 NAC color-filter bandpasses (ranging from 338nm to 930nm wavelengths), as well as a Wide Angle Camera (WAC), 3-color (BGR) image set. The images show whole-disk views of Tethys' trailing hemisphere viewed at a phase angle of 50 degrees and with a sub-spacecraft point of (22 deg. N, 270 deg. W). At the spatial resolution of our NAC images, Tethys' 1060 km diameter presents a disk-size of about 350 pixels. Among the images returned are nine frames obtained through NAC polarization-filters at three different spectral bandpasses (UV3: 341nm, GRN: 569nm, and MT2: 727 nm, respectively). In the present study, we use these polarization images to search for possible variations in the microscopic texture of regolith on Tethys.

Helfenstein, P.↗