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238 results for “functional phenotype”
Data from: In vivo functional phenotypes from a computational epistatic model of evolution
<p><span>Computational models of evolution are valuable for understanding the dynamics of sequence variation, to infer phylogenetic relationships or potential evolutionary pathways, and for biomedical and industrial applications. Despite these benefits, few have validated their propensities to generate outputs with <em>in vivo </em>functionality, which would enhance their value as accurate and interpretable evolutionary algorithms. Utilizing the Hamiltonian of the joint probability of sequences in the family as fitness metric, we sampled and experimentally tested for <em>in vivo</em> beta-lactamase activity in E. coli TEM-1 variants. These variants retain family-like functionality while being more active than their WT predecessor. We found that depending on the inference method used to generate the epistatic constraints, different parameters simulate diverse selection strengths. Under weaker selection, local Hamiltonian fluctuations reliably predict relative changes to variant fitness, recapitulating neutral evolution. In this dataset, we include input datasets, simulation trajectories as well as experimental data to support the publication: "In vivo functional phenotypes from a computationa epistatic model of evolution".</span></p>
Inbreeding depression, functional traits and phenotypic plasticity in an endangered tree species from Congo basin with a mixed mating system
<h3><span>Inbreeding depression, functional traits and phenotypic plasticity in an endangered tree species from Congo basin with a mixed mating system</span></h3> <h1><a name="_Hlk166486742"></a><strong><span>Abstract</span></strong></h1> <p><span><span>1. Most tree species can suffer from inbreeding depression (ID), which they escape by reproducing predominantly through outcrossing. A remarkable exception is <em>Pericopsis elata</em>, an African timber species naturally producing 54% of self-fertilized seeds in the eastern Congo Basin. This species is highly logged and suffers from a deficit of natural regeneration, so that silviculture is needed for its sustainable management. While selecting good genetic material can increase the value of plantations, we lack fundamental biological knowledge on the effect of inbreeding and competition on growth potential, variability in leaf traits and phenotypic plasticity. We hypothesize that ID in <em>P. elata</em> could result from the expression of deleterious mutations affecting functional traits, or from a reduction of adaptive phenotypic plasticity in inbred genotypes.</span></span></p> <p><span><span>2. To test our hypotheses, 540 <em>P. elata</em> seedlings were monitored for 4 years in a Nelder-type device located in the DRC, in which trees were planted along concentric circles to generate a density gradient. Nine leaf morphological traits (including specific leaf area, stomata density and size), eight leaf chemical traits, diameter, and total height were measured regularly, while paternity analyses allowed distinguishing inbred and outbred plants. To explain the observed ID on growth, we tested whether inbreeding affected leaf traits and/or their plasticity expressed across years, across the density gradient or across sunlight exposure. </span></span></p> <p><span><span>3. Outbred plants grew faster than inbred ones, demonstrating ID for each level of competition. Despite the significant correlation found between specific leaf area and growth, and the impact of planting density, plant age, and leaf exposure to sunlight on multiple traits, mean leaf trait values did not differ according to inbreeding. However, </span></span><span><span>a few leaf traits (chlorophyl content, </span></span><span><span>maximum stomatal water vapor conductance</span></span><span><span>, and leaf fresh mass) showed significantly higher plasticity in outbred than inbred plants. </span></span></p> <p><span><span>4. Synthesis: the observed ID on growth was not explained by a direct effect of inbreeding on the mean values of functional traits but possibly by a reduction of phenotypic plasticity with inbreeding. Additional studies on the interplay between ID, functional traits and plasticity should be conducted at the intra-specific level to identify general patterns<em>.</em></span></span></p> <p><span><strong><span>Key-words : </span></strong></span><span><span>Inbreeding depression, phenotypic plasticity, silviculture, functionals traits, <em>Pericopsis elata</em>, mating system, Nelder device.</span></span></p>
Functional and molecular characterization of suicidality factors using phenotypic and genome-wide data
<p>GWAS summary statistics for Functional and molecular characterization of suicidality factors using phenotypic and genome-wide data published in Molecular Psychiatry by Quintero Reis A, Newton BA, Kessler R, Polimanti R, and Wendt FR.</p>
dataset relate to article: "Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes"
<p><strong>Sequencing Analysis performed at Fondazione Besta and carried out as part of the study mentioned at title</strong></p>
Data from: How important are functional and developmental constraints on phenotypic evolution? An empirical test with the stomatal anatomy of flowering plants
<p>Quantifying the relative contribution of functional and developmental constraints on phenotypic variation is a longstanding goal of macroevolution, but it is often difficult to distinguish different types of constraints. Alternatively, selection can limit phenotypic (co)variation if some trait combinations are generally maladaptive. The anatomy of leaves with stomata on both surfaces (amphistomatous) presents a unique opportunity to test the importance of functional and developmental constraints on phenotypyic evolution. The key insight is that stomata on each leaf surface encounter the same functional and developmental constraints, but potentially different selective pressures because of leaf asymmetry in light capture, gas exchange, and other features. Independent evolution of stomatal traits on each surface implies that functional and developmental constraints alone likely do not explain trait covariance. Packing limits on how many stomata can fit into a finite epidermis and cell-size-mediated developmental integration are hypothesized to constrain variation in stomatal anatomy. The simple geometry of the planar leaf surface and knowledge of stomatal development makes it possible to derive equations for phenotypic (co)variance caused by these constraints and compare them with data. We analyzed evolutionary covariance between stomatal density and length in amphistomatous leaves from 236 phylogenetically independent contrasts using a robust Bayesian model. Stomatal anatomy on each surface diverges partially independently, meaning that packing limits and developmental integration are not sufficient to explain phenotypic (co)variation. Hence, (co)variation in ecologically important traits like stomata arises in part because there is a limited range of evolutionary optima. We show how it is possible to evaluate the contribution of different constraints by deriving expected patterns of (co)variance and testing them using similar but separate tissues, organs, or sexes.</p>
Data from: How important are functional and developmental constraints on phenotypic evolution? An empirical test with the stomatal anatomy of flowering plants
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Data from: The structure of an ancient genotype-phenotype map shaped the functional evolution of a protein family
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Data from: Coincident transitions across elevation and origins of functional innovations drove the phenotypic and ecological diversity of lungless salamanders
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Data from: In vivo functional phenotypes from a computational epistatic model of evolution
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Data from: Phenotypic evolution shaped by current enzyme function in the bioluminescent courtship signals of sea fireflies
Mating behaviours are diverse and noteworthy, especially within species radiations where they may contribute to speciation. Studying how differences in mating behaviours arise between species can help us understand how diversity is generated at multiple biological levels. The bioluminescent courtship displays of cypridinid ostracods (or sea fireflies) are an excellent system for this since amazing variety evolves while using a conserved biochemical mechanism. We find that the evolution of one aspect in this behavioural phenotype - the duration of bioluminescent courtship pulses - is shaped by biochemical function. First, by measuring light production from induced bioluminescence in 38 species, we discovered differences between species in their biochemical reactions. Then, for 16 species of which biochemical, phylogenetic, and behavioral data are all available, we used phylogenetic comparative models to show that differences in biochemical reaction are nonlinearly correlated with the duration of courtship pulses. This relationship indicates that changes to both enzyme (c-luciferase) function and usage have shaped the evolution of courtship displays, but that they differentially contribute to these phenotypic changes. This nonlinear dynamic may have consequences for the disparity of signaling phenotypes observed across species, and demonstrates how unappreciated diversity at the biochemical level can lead to inferences about behavioural evolution.
Phenotypic correlates of pelvic spine coloration in the Threespine Stickleback (Gasterosteus aculeatus): Implications for function and evolution
<p>Animal color patches may be static or plastic in expression and concealable or continuously visible, yet these aspects of coloration, and their consequences, have been little studied. We address them here using the threespine stickleback (<em>Gasterosteus aculeatus</em>). Despite a rich history of study of stickleback nuptial color pattern evolution, disagreement persists regarding selection pressures and function. However, little research has addressed the role of pelvic spine coloration, a potentially important, and substantially concealable, color pattern element. We investigated (i) whether male pelvic spine (along with throat and body) coloration is relatively static or plastic across the reproductive cycle, (ii) when pelvic spines are raised versus concealed across behavioral contexts, and (iii) associations between color patches and behavior in males. We found no significant variation in spine color across reproductive stages whereas body color was more plastic and intensely red during courtship and egg/fry care. Conspicuousness of pelvic spine coloration instead varied behaviorally, through increased erection frequency during social interactions and in response to a model predator. Spine erection frequency was positively associated with behaviors that enhance spine color visibility, i.e. flees and leads to nest. These findings suggest that stickleback use pelvic spines to display an intensely red color patch facultatively, either as a complement to similar body coloration or possibly as a substitute. In addition, elevated spine raising in the presence of a model predator, together with the presence of red spine coloration in females, raises the possibility that red spine coloration may also have an anti-predator function.</p>
Data from: A genome-wide functional genomics approach uncovers genetic determinants of immune phenotypes in type 1 diabetes
<p><strong>Background: </strong>The large inter-individual variability in immune-cell cell composition and function determines immune responses in general and susceptibility to immune-mediated diseases in particular. While much has been learned about the genetic variants relevant for type 1 diabetes (T1D), the pathophysiological mechanisms through which these variations exert their effects remain unknown.</p> <p><strong>Methods:</strong> Blood samples were collected from 243 patients with T1D of Dutch descent. We applied genetic association analysis on > 200 immune cell traits and >100 cytokine production profiles in response to stimuli measured to identify genetic determinants of immune function, and compared the results obtained in T1D to healthy controls.</p> <p><strong>Results:</strong> Genetic variants that determine susceptibility to T1D significantly affect T cell composition. Specifically, the CCR5+ regulatory T cells associate with T1D through the CCR region, suggesting a shared genetic regulation. Genome-wide quantitative trait loci (QTL) mapping analysis of immune traits revealed 15 genetic loci that influence immune responses in T1D, including 12 that have never been reported in healthy population studies, implying a disease-specific genetic regulation.</p> <p><strong>Conclusion:</strong> This study provides new insights into the genetic factors that affect immunological responses in T1D.</p>
Molecular phenotyping uncovers differences in basic housekeeping functions among closely related species of hares (Lepus spp., Lagomorpha: Leporidae)
<p>Speciation is a fundamental evolutionary process, which results in genetic differentiation of populations and manifests as discrete morphological, physiological as well as behavioral differences. Each species has had its own evolutionary trajectory, formed by many types of selection pressures and random drift, making it extremely complicated to associate genetic differences between the species with the phenotypic differences. In the present study, we have used an in vitro model to analyze in depth the genetic and gene regulation differences between fibroblasts of two closely related mammals, arctic/subarctic mountain hare (Lepus timidus Linnaeus) and a temperate, steppe-like climate adapted brown hare (Lepus europaeus Pallas). We discovered the existence of a species-specific expression pattern of 1,623 genes, manifesting in differences in cell growth, respiration, and metabolism. Interspecific differences in the housekeeping functions of fibroblast cells suggest speciation acts on fundamental processes, even in these two interfertile species. Our results help to understand the molecular constituents of a species difference on a cellular level, which could contribute to the maintenance of the species boundary.</p>
An efficient CRISPR-mediated genome editing system in diploid and polyploid Tragopogon (Asteraceae) enables functional studies of complex phenotypes and polyploid genome evolution
<p>Polyploidy or whole-genome duplication (WGD) is a significant evolutionary force, especially in angiosperms. However, the underlying mechanisms governing polyploid genome evolution remain unclear, limited largely by a lack of functional analysis tools in organisms that best exemplify the earliest stages of WGD. <em>Tragopogon</em> (Asteraceae) includes an evolutionary model system for studying the immediate consequences of polyploidy. In this study, we significantly improved the genetic transformation of <em>Tragopogon</em> and obtained genome-edited <em>T. porrifolius</em> (2<em>x</em>) and <em>T. mirus</em> (4<em>x</em>) primary generation (T<sub>0</sub>) individuals. Using CRISPR/Cas9, we knocked out the dihydroflavonol 4-reductase (<em>DFR</em>) gene, which controls anthocyanin synthesis, in both <em>T. porrifolius</em> and <em>T. mirus</em>. All transgenic allotetraploid <em>T. mirus</em> individuals had at least one mutant <em>DFR</em> allele and 71.4% of the plants had all four <em>DFR</em> alleles (from both homeologs) edited, indicating a high efficiency of the CRISPR system in polyploid <em>Tragopogon</em>. The anticipated absence of the anthocyanin was observed in both leaf and floral tissues from <em>T. porrifolius</em> and <em>T. mirus</em> mutants. In addition, the mutations were inherited in the T<sub>1</sub> generation. This study demonstrates a highly efficient CRISPR platform producing genome-edited <em>Tragopogon</em> individuals that have successfully completed their life cycle. The approaches used and challenges faced in building the CRISPR system in <em>Tragopogon</em> provide a framework for building similar systems in other nongenetic models. Genome editing in <em>Tragopogon</em> paves the way for novel functional biology studies of polyploid genome evolution and the consequences of WGD on complex traits, which holds enormous potential for both basic and applied research.</p>
Functional consequences of phenotypic variation between locally adapted populations: swimming performance and ventilation in extremophile fish
<p>Natural selection drives the evolution of traits to optimize organismal performance, but optimization of one aspect of performance can often influence other aspects of performance. Here, we asked how phenotypic variation between locally adapted fish populations affects locomotion and ventilation, testing for functional trade-offs and trait-performance correlations. Specifically, we investigated two populations of livebearing fish (<em>Poecilia mexicana</em>) that inhabit distinct habitat types (hydrogen-sulfide-rich springs and adjacent nonsulfidic streams). For each individual, we quantified different metrics of burst swimming during simulated predator attacks, steady swimming, as well as gill ventilation. Coinciding with predictions, we documented significant population differences in all aspects of performance, with fish from sulfidic habitats exhibiting higher steady swimming performance and higher ventilation capacity, but slower burst swimming. There was a significant functional trade-off between steady and burst swimming, but not between different aspects of locomotion and ventilation. While our findings about population differences in locomotion performance largely parallel the results from previous studies, we provide novel insights about how morphological variation might impact ventilation and ultimately oxygen acquisition. Overall, our analyses provided insights into the functional consequences of previously documented phenotypic variation, which will help to disentangle the effects of different sources of selection that may coincide along complex environmental gradients.</p>
Data from: Phenotypic evolution shaped by current enzyme function in the bioluminescent courtship signals of sea fireflies
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Data from: A genome-wide functional genomics approach uncovers genetic determinants of immune phenotypes in type 1 diabetes
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Phenotypic correlates of pelvic spine coloration in the Threespine Stickleback (Gasterosteus aculeatus): Implications for function and evolution
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Functional consequences of phenotypic variation between locally adapted populations: swimming performance and ventilation in extremophile fish
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Molecular phenotyping uncovers differences in basic housekeeping functions among closely related species of hares (Lepus spp., Lagomorpha: Leporidae)
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
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DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.