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NASA NTRS2018

The Habitability of Proxima Centauri b: Environmental States and Observational Discriminants

Proxima Centauri b provides an unprecedented opportunity to understand the evolution and nature of terrestrial planets orbiting M dwarfs. Although Proxima Cen b orbits within its star’s habitable zone, multiple plausible evolutionary paths could have generated different environments that may or may not be habitable. Here, we use 1-D coupled climate-photochemical models to generate self-consistent atmospheres for several evolutionary scenarios, including high-O2, high-CO2, and more Earth-like atmospheres, with both oxic and anoxic compositions. We show that these modeled environments can be habitable or uninhabitable at Proxima Cen b's position in the habitable zone. We use radiative transfer models to generate synthetic spectra and thermal phase curves for these simulated environments, and use instrument models to explore our ability to discriminate between possible planetary states. These results are applicable not only to Proxima Cen b but to other terrestrial planets orbiting M dwarfs. Thermal phase curves may provide the first constraint on the existence of an atmosphere. We find that James Webb Space Telescope ( JWST) observations longward of 10 mm could characterize atmospheric heat transport and molecular composition. Detection of ocean glint is unlikely with JWST but may be within the reach of larger-aperture telescopes. Direct imaging spectra may detect O4 absorption, which is diagnostic of massive water loss and O2 retention, rather than a photosynthetic biosphere. Similarly, strong CO2 and CO bands at wavelengths shortward of 2.5 mm would indicate a CO2-dominated atmosphere. If the planet is habitable and volatile-rich, direct imaging will be the best means of detecting habitability. Earth-like planets with microbial biospheres may be identified by the presence of CH4-which has a longer atmospheric lifetime under Proxima Centauri's incident UV-and either photosynthetically produced O2 or a hydrocarbon haze layer.

Meadows, Victoria S.↗
NASA NTRS2017

Flexible Proteins at the Origin of Life

Almost all modern proteins possess well-defined, relatively rigid scaffolds that provide structural preorganization for desired functions. Such scaffolds require the sufficient length of a polypeptide chain and extensive evolutionary optimization. How ancestral proteins attained functionality, even though they were most likely markedly smaller than their contemporary descendants, remains a major, unresolved question in the origin of life. On the basis of evidence from experiments and computer simulations, we argue that at least some of the earliest water-soluble and membrane proteins were markedly more flexible than their modern counterparts. As an example, we consider a small, evolved in vitro ligase, based on a novel architecture that may be the archetype of primordial enzymes. The protein does not contain a hydrophobic core or conventional elements of the secondary structure characteristic of modern water-soluble proteins, but instead is built of a flexible, catalytic loop supported by a small hydrophilic core containing zinc atoms. It appears that disorder in the polypeptide chain imparts robustness to mutations in the protein core. Simple ion channels, likely the earliest membrane protein assemblies, could also be quite flexible, but still retain their functionality, again in contrast to their modern descendants. This is demonstrated in the example of antiamoebin, which can serve as a useful model of small peptides forming ancestral ion channels. Common features of the earliest, functional protein architectures discussed here include not only their flexibility, but also a low level of evolutionary optimization and heterogeneity in amino acid composition and, possibly, the type of peptide bonds in the protein backbone.

Flexible protein↗
NASA NTRS2018

Increasing the Statistical Rigor of Cross-Species Differential Expression Analysis

Microgravity inflicts substantial, but undercharacterized, pressure on organisms that induces metabolic responses such as increased microbial virulence and antibiotic resistance, altered organ weights in developing rats, and loss of bone tissue in astronauts. Numerous studies have analyzed the effects of microgravity on specific organisms, tissues, or test conditions, but these projects are necessarily limited by the small sample size of space research. Increasing the sample size of spaceflight studies is non-trivial; however, pooling data from numerous studies can greatly increase the statistical rigor of comparative analyses. The GeneLab houses datasets from 73 spaceflight studies that performed transcription profiling assays. These data encompass a diverse array of organisms ranging from Escherichia coli to Mus musculus to Homo sapiens and comprise studies analyzing ionizing radiation, mammalian pregnancy, etc. Collectively, the GeneLab database contains a large quantity of transcription assays and RNA sequence data analyzing Differential Gene Expression (DGE) between microand normogravity. Xspecies, a cross-species analysis method for DGE developed by Kristiansson, et al. in 2012, identifies homologous genes between species that are universally up- or downregulated in response to test conditions. Previous work by an intern at GeneLab applied Xspecies to 19 datasets containing seven different species and identified 14 homologous groups differentially expressed under spaceflight conditions including several heat shock proteins and cytoskeletal components. Unfortunately, these results may be biased by the disproportionate number of studies on Arabidopsis thaliana (5) and Mus musculus (6) and the results are not normalized by evolutionary distances. Here, we present modifications to the Xspecies algorithm that permits incorporation of multi-omic data and normalizes data for effect size, directionality, and evolutionary distances. We then apply this algorithm to all currently available GeneLab studies

Xspecies↗
NASA NTRS2019

A Mixed Integer Efficient Global Optimization Algorithm with Multiple Infill Strategy - Applied to a Wing Topology Optimization Problem

With the advancement in high performance computing and numerical optimization techniques,engineering design optimization problems are becoming more complex, larger scale,higher fidelity, and computationally more demanding, requiring longer run times than ever before. There exists methodologies and techniques that can address some of these challenges but very few can address all, and most are limited in the extent that these concerns can be addressed. With the goal of addressing such challenging engineering problems, we developed anew optimization framework, named AMIEGO, that combines concepts from surrogate-based optimization approaches, gradient-based numerical methods, Partial Least Squares, evolutionary algorithms, and Branch-and-Bound, providing newer capabilities that were not previouslyperceived. However, the original version of this framework, in the process of adaptive samplingto explore and exploit the design space, finds only a single sample point per iteration. The efforthere builds upon this previously developed optimization framework to include multiple infillsampling capability that combines the concept of generalized expected improvement function,unsupervised learning, and multi-objective evolutionary technique. To demonstrate, AMIEGOwith the multiple infill capability (called AMIEGO-MIMOS) solves a series of increasingly difficultengineering design optimization problems. The results reveal the performance of the newapproach is problem dependent. When applied to a ten-bar truss problem, the newly proposedmultiple infill strategy consistently leads to a better design solutions when compared to theexisting CPTV method (implemented with the context of the AMIEGO framework). On theother hand, when applied to a mixed-integer high fidelity wing topology optimization problem- MIMOS, despite showing a steeper convergence at the start, eventually leads to an inferiorsolution as compared to CPTV approach. These results also reveal that a small number ofstarting points, in general, are sufficient to lead to a good overall solution.

Mixed-integer optimization↗
NASA NTRS2019

Ion Propulsion for Solar System Exploration

NASA's Evolutionary Xenon Thruster (NEXT) is ready for transition-to-flight. The thruster has completed all qualification-level environmental testing, and has demonstrated a xenon propellant throughput, total impulse, and total operating hours greatly in excess of anticipated planetary science mission requirements, and exceeding that achieved by any other thruster technology in the history of electric propulsion. NEXT is the next generation system, a natural progression in technology from that implemented successfully on the Deep-Space one and Dawn missions, developed at NASA's Glenn Research Center in Cleveland, Ohio. The first implementation of NEXT will be on NASA 's Double Asteroid Redirection Test (DART). DART will be the first demonstration of the kinetic impact technique to change the motion of an asteroid in space. The DART mission is in Phase C, led by Johns Hopkins University Applied Physics Laboratory. The DART spacecraft will utilize the NASA Evolutionary Xenon Thruster solar electric propulsion system as its primary in-space propulsion system. By utilizing NEXT, DART is able to gain significant flexibility to the mission timeline and launch window, as well as decrease in launch vehicle cost. This presentation will review NASA's investment strategy in electric propulsion _ in particular gridded ion thruster technology _ as it applies to solar system exploration. Results obtained from implementing this technology on Deep-Space one and Dawn will be reviewed. Mission studies which highlight the impacts of the NEXT technology will be discussed, and near-term proposed and scheduled missions including DART and CAESAR (Comet Astrobiology Exploration Sample Return) will be reviewed.

Electric Propulsion↗
NASA NTRS2019

High-Resolution Mid-Infrared Molecular Line Survey of the Orion Hot Core

The basic building blocks of life are synthesized in space as part of the natural stellar evolutionary cycle, whereby elements ejected into the interstellar medium by dying stars are incorporated back into the dense clouds, which form the next generation of stars and planets. The formation of stars and planets are fundamental to the evolution of matter in the Universe as complex molecules are created and destroyed during this step. Understanding these processes will allow us to answer “What is the relation between the molecules we see in the ISM and the molecular inventory of Earth and the terrestrial planets in the Solar System?” Measuring and cataloging the inventory of organic molecules and understanding their evolution requires observations over a broad wavelength range (IR, MIR, FIR, (sub)mm, and radio) to cover all stages of this evolutionary cycle needed to link interstellar material to that delivered to planets. High-resolution molecular line surveys provide chemical inventories for star forming regions and are essential for studying their chemistry, kinematics and physical conditions. Previous high spectral resolution surveys have been limited to radio, sub-mm and FIR wavelengths; however, Mid-infrared observations are the only way to study symmetric molecules that have no dipole moment and thus cannot be detected in the (sub)mm line surveys from ALMA. Past midinfrared missions such as ISO and Spitzer had low to moderate resolving power that were only able to link broad features with particular molecular bands and could not resolve the individual rovibrational transitions. JWST will provide exceptional sensitivity in the MIR, but will also not have sufficient spectral resolution, which can lead to confusion in identifying the contribution from strong to moderate strength molecular species. We present new results from an on-going high resolution (R ~ 60,000) line survey of the Orion hot core between 12.5 - 28.3 μm and 7 - 8 μm, using the EXES instrument on the SOFIA airborne observatory. SOFIA's higher-resolution and smaller beam compared to ISO allows us to spatially and spectrally isolate the emission towards the hot core. This survey will provide the best infrared measurements (to date) of molecular column densities and physical conditions, providing strong constraints on the current chemical network models for star forming regions. This survey will greatly enhance the inventory of resolved line features in the MIR, making it an invaluable reference to be used by the JWST and ALMA scientific communities.

Rangwala, Naseem↗
NASA NTRS2018

TPSAS-NF1676L-31282-DND

Several technology investments, beyond those used for robotic missions, are required to develop Mars human scale Entry, Descent, and Landing (EDL) systems. In a resource-constrained environment, studies play the critical role of identifying the most feasible technical paths and high payoff investments. One such NASA multi-directorate, multi-center study, is called the Entry, Descent and Landing Architecture Study (EDLAS). This paper presents a summary of phase two of the study conducted from October 2016 to September 2017. Study ground rules and assumptions are provided by NASA?s Human Exploration and Operations Mission Directorate (HEOMD) and include a Mars architecture and Mars surface lander payload manifests. Four unique entry technologies with the potential to deliver a specified 20 t human scale payload to the Mars surface are considered for analysis. Two of these techniques are evolutionary rigid vehicles, derived from robotic capsule missions and the space shuttle. Likewise, two revolutionary deployable vehicles are considered, the Adaptable Deployable Entry Placement Technology (ADEPT) and Hypersonic Inflatable Aerodynamic Decelerator (HIAD). This paper summarizes updates to the entry technology designs, the analysis motivation and approach, figures of merit by which the configurations are compared, and results of the analyses. Finally, findings are presented with the recommendation that two of the four configurations, one evolutionary and one revolutionary technology, continue to be studied in future human scale EDL studies.

Alicia Dwyer Cianciolo↗
NASA NTRS2021

A Dusty Veil Shading Betelgeuse During Its Great Dimming

Red supergiants are the most common final evolutionary stage of stars that have initial masses between 8 and 35 times that of the Sun. During this stage, which lasts roughly 100,000 years, red supergiants experience substantial mass loss. However, the mechanism for this mass loss is unknown. Mass loss may affect the evolutionary path, collapse and future supernova light curve of a red supergiant, and its ultimate fate as either a neutron star or a black hole. From November 2019 to March 2020, Betelgeuse—the second-closest red supergiant to Earth (roughly 220 parsecs, or 724 light years, away)—experienced a historic dimming of its visible brightness. Usually having an apparent magnitude between 0.1 and 1.0, its visual brightness decreased to 1.614 ± 0.008 magnitudes around 7–13 February 2020—an event referred to as Betelgeuse’s Great Dimming. Here we report high-angular-resolution observations showing that the southern hemisphere of Betelgeuse was ten times darker than usual in the visible spectrum during its Great Dimming. Observations and modelling support a scenario in which a dust clump formed recently in the vicinity of the star, owing to a local temperature decrease in a cool patch that appeared on the photosphere. The directly imaged brightness variations of Betelgeuse evolved on a timescale of weeks. Our findings suggest that a component of mass loss from red supergiants is inhomogeneous, linked to a very contrasted and rapidly changing photosphere.

Time-domain astronomy↗
NASA NTRSDate not supplied

Responses of Microbes to Modeled Space Radiation

The built environment of spaceships is host to a microbial community that affects crew and craft alike. While the static composition of this community has been characterized and its temporal dynamics examined, the mechanisms controlling its make-up and evolutionary trajectory are not understood. Systematic analyses of microbial diversity show consistent patterns in community composition and function. Understanding these patterns' ecological origins remains a significant challenge, as it requires connecting processes at varying temporal and spatial scales. However, it is clear that the state and trajectories of microbial communities are in-part determined by their physical environment. In this regard, the spaceflight environment includes numerous interacting factors that differentiate it from Earth environments, including an altered atmospheric composition, reduced gravity (and thus altered fluid dynamics), and increased ionizing radiation. These factors impart selective pressures on microbial communities that affect their evolutionary trajectories and thus the risks and benefits these communities represent to crew and craft. The radiation environment of space leads to chronic exposure to low doses and is difficult to mimic on Earth. Thus, little is known about how microbial communities in spacecraft will respond and evolve. Therefore, given the limitations of existing studies, we aim to empirically determine how exposure to low doses of ionizing radiation for thousands of cell divisions affects rates of mutation accumulation in bacteria and the trajectory of their evolution. In this way, we will provide a critical set of data for designing safe and robust space missions. Here we discuss our progress towards this aim, including the construction of exposure facilities, our culturing and analysis approach, and preliminary data.

radiation↗
NASA NTRS2022

Evolution and folding of repeat proteins

Repeat proteins are made with tandem copies of similar amino acid stretches that fold into elongated architectures. These proteins constitute excellent model systems to investigate how evolution relates to structure, folding, and function. Here, we propose a scheme to map evolutionary information at the sequence level to a coarse-grained model for repeat-protein folding and use it to investigate the folding of thousands of repeat proteins. We model the energetics by a combination of an inverse Potts-model scheme with an explicit mechanistic model of duplications and deletions of repeats to calculate the evolutionary parameters of the system at the single-residue level. These parameters are used to inform an Ising-like model that allows for the generation of folding curves, apparent domain emergence, and occupation of intermediate states that are highly compatible with experimental data in specific case studies. We analyzed the folding of thousands of natural Ankyrin repeat proteins and found that a multiplicity of folding mechanisms are possible. Fully cooperative all-or-none transitions are obtained for arrays with enough sequence-similar elements and strong interactions between them, while noncooperative element-by-element intermittent folding arose if the elements are dissimilar and the interactions between them are energetically weak. Additionally, we characterized nucleation-propagation and multidomain folding mechanisms. We show that the global stability and cooperativity of the repeating arrays can be predicted from simple sequence scores.

Ezequiel A. Galpern↗
NASA NTRS2019

Size and Structure of the Sequence Space of Repeat Proteins

The coding space of protein sequences is shaped by evolutionary constraints set by requirements of function and stability. We show that the coding space of a given protein family— the total number of sequences in that family—can be estimated using models of maximum entropy trained on multiple sequence alignments of naturally occurring amino acid sequences. We analyzed and calculated the size of three abundant repeat proteins families, whose members are large proteins made of many repetitions of conserved portions of *30 amino acids. While amino acid conservation at each position of the alignment explains most of the reduction of diversity relative to completely random sequences, we found that correlations between amino acid usage at different positions significantly impact that diversity. We quantified the impact of different types of correlations, functional and evolutionary, on sequence diversity. Analysis of the detailed structure of the coding space of the families revealed a rugged landscape, with many local energy minima of varying sizes with a hierarchical structure, reminiscent of frustrated energy landscapes of spin glass in physics. This clustered structure indicates a multiplicity of subtypes within each family and suggests new strategies for protein design.

Jacopo Marchi↗
NASA NTRS2022

Updated Orbital Monitoring and Dynamical Masses for Nearby M-dwarf Binaries

Young M-type binaries are particularly useful for precise isochronal dating by taking advantage of their extended pre-main sequence evolution. Orbital monitoring of these low-mass objects becomes essential in constraining their fundamental properties, as dynamical masses can be extracted from their Keplerian motion. Here, we present the combined efforts of the AstraLux Large Multiplicity Survey, together with a filler sub-programme from the SpHere INfrared Exoplanet (SHINE) project and previously unpublished data from the FastCam lucky imaging camera at the Nordical Optical Telescope (NOT) and the NaCo instrument at the Very Large Telescope (VLT). Building on previous work, we use archival and new astrometric data to constrain orbital parameters for 20 M-type binaries. We identify that eight of the binaries have strong Bayesian probabilities and belong to known young moving groups (YMGs). We provide a first attempt at constraining orbital parameters for 14 of the binaries in our sample, with the remaining six having previously fitted orbits for which we provide additional astrometric data and updated Gaia parallaxes. The substantial orbital information built up here for four of the binaries allows for direct comparison between individual dynamical masses and theoretical masses from stellar evolutionary model isochrones, with an additional three binary systems with tentative individual dynamical mass estimates likely to be improved in the near future. We attained an overall agreement between the dynamical masses and the theoretical masses from the isochrones based on the assumed YMG age of the respective binary pair. The two systems with the best orbital constrains for which we obtained individual dynamical masses, J0728 and J2317, display higher dynamical masses than predicted by evolutionary models.

Astrometry / binaries↗
NASA NTRS2022

Ultraviolet Spectropolarimetry: on the Origin of Rapidly Rotating B Stars

UV spectroscopy and spectropolarimetry hold the key to understanding certain aspects of massive stars that are largely inaccessible (or exceptionally difficult) with optical or longer wavelength observations. As we demonstrate, this is especially true for the rapidly-rotating Be and Bn stars, owing to their high temperatures, geometric asymmetries, binary properties, evolutionary history, as well as mass ejection and disks (in the case of Be stars). UV spectropolarimetric observations are extremely sensitive to the photospheric consequences of rapid rotation (i.e. oblateness, temperature, and surface gravity gradients), far beyond the reach of optical wavelengths. Our polarized radiative-transfer modelling predicts that with low-resolution UV spectropolarimetry covering 120–300 nm, and with a reasonable SNR, the inclination angle of a rapid rotator can be determined to within 5 degrees, and the rotation rate to within 1%. The origin of rapid rotation in Be/n stars can be explained by either single-star or binary evolution, but their relative importance is largely unknown. Some Be stars have hot sub-luminous (sdO) companions, which at an earlier phase transferred their envelope (and with it mass and angular momentum) to the present-day rapid rotator. Although sdO stars are small and relatively faint, their flux peaks in the UV making this the optimal observational wavelength regime. Through spectral modelling of a wide range of simulated Be/n+sdO configurations, we demonstrate that high-resolution high-signal-to-noise ratio UV spectroscopy can detect an sdO star even when ∼1,000 times fainter in the UV than its Be/n star companion. This degree of sensitivity is needed to more fully explore the parameter space of Be/n+sdO binaries, which so far has been limited to about a dozen systems with relatively luminous sdO stars. We suggest that a UV spectropolarimetric survey of Be/n stars is the next step forward in understanding this population. Such a dataset would, when combined with population synthesis models, allow for the determination of the relative importance of the possible evolutionary pathways traversed by these stars, which is also crucial for understanding their future evolution and fate.

Ultraviolet astronomy↗
NASA NTRSDate not supplied

The Need for Earth-Based Experiments to Inform Microbial Evolution on Planetary Surfaces

Introduction: Historically, the focus of planetary protection at NASA has been on unmanned, robotic missions. Such missions have paved the way for understanding how to implement planetary protection in a feasible and cost-sensitive way. However, with the introduction of crewed missions to Mars in the not-sodistant future, there is a need to better define and understand how to implement planetary protection under new circumstances, as well as understand the risk of contaminating Mars. One unavoidable fact is that microbes will go where humans go. Therefore, it is critical to understand how these microbes may (and will) impact our ability to conduct meaningful, reliable astrobiological science. Microorganisms have spent millions of years evolving to survive in extreme environments here on Earth. Already there are indications that microbes aboard the International Space Station evolve and adapt to life in low earth orbit. The microbes that are eventually taken to Mars with humans will also adapt, potentially causing harmful effects to crew and/or the planetary or astrobiological science conducted. Therefore, it is of critical interest that we evaluate and characterize the potential risks of microbial evolution on Mars. It is expected that microbes carried by humans will begin to evolve to new environments even before landing on Mars, during the several month cruise phase. Once landed, microbes will encounter different stressors within the crew habitats on Mars. During extravehicular activities, venting, or other release events, microbes will find their way out onto the Martian surface. The induced environments around crewed systems will create potentially-favorable conditions for microbes to continue evolving on Mars. Eventually, microbes may find their way beyond the close confines of the crewed area and continue evolving so as to fill new or distant niches on the Martian surface. It is challenging to replicate Martian environments here on Earth, making it nearly impossible to predict the evolutionary changes that microbes would undergo on Mars. But this work is critical. Serial passaging experiments performed by Richard Lenski on E. coli show the dramatic changes microbes can undergo even within a laboratory setting. Furthermore, experiments performed by Michael Baym also demonstrate the power of single mutations in microbial development of antibiotic resistance [3]. Long duration experiments should be performed on a suite of microbes exposed to environments likely to be experienced on the Martian surface. While simulating space environments can be challenging, facilities exist that can achieve individual and combinatorial environmental conditions to simulate space and planetary conditions. Such chambers should be employed for microbial studies. Currently, at the Marshall Space Flight Center, we have used various stressors like drying, vacuum, proton radiation, and ultraviolet light both separately and in combination, to evaluate the survival of cleanroom microbes. Shockingly, several non-spore forming isolates have demonstrated the ability to survive many extreme conditions (manuscript in preparation). These short duration exposures must be augmented with larger and more gradual studies to replicate what microbes might experience in the transition from cruise, to surface habitats, to induced surface environments, and finally true Martian environments. While no Earth-based experiment can perfectly replicate the Martian environment, nor could we test every possible microbe in simulation experimental regimes, efforts should be made to examine the evolutionary potential of the “usual suspects” seen on the ISS or in other crewed environments to begin to fill this important knowledge gap.

Chelsi D. Cassilly↗
NASA NTRS2003

The Ciona intestinalis genome: when the constraints are off

The recent genome sequencing of a non-vertebrate deuterostome, the ascidian tunicate Ciona intestinalis, makes a substantial contribution to the fields of evolutionary and developmental biology.1 Tunicates have some of the smallest bilaterian genomes, embryos with relatively few cells, fixed lineages and early determination of cell fates. Initial analyses of the C. intestinalis genome indicate that it has been evolving rapidly. Comparisons with other bilaterians show that C. intestinalis has lost a number of genes, and that many genes linked together in most other bilaterians have become uncoupled. In addition, a number of independent, lineage-specific gene duplications have been detected. These new results, although interesting in themselves, will take on a deeper significance once the genomes of additional invertebrate deuterostomes (e.g. echinoderms, hemichordates and amphioxus) have been sequenced. With such a broadened database, comparative genomics can begin to ask pointed questions about the relationship between the evolution of genomes and the evolution of body plans. Copyright 2003 Wiley Periodicals, Inc.

Review, Tutorial↗
NASA NTRS2002

Abundant raw material for cis-regulatory evolution in humans

Changes in gene expression and regulation--due in particular to the evolution of cis-regulatory DNA sequences--may underlie many evolutionary changes in phenotypes, yet little is known about the distribution of such variation in populations. We present in this study the first survey of experimentally validated functional cis-regulatory polymorphism. These data are derived from more than 140 polymorphisms involved in the regulation of 107 genes in Homo sapiens, the eukaryote species with the most available data. We find that functional cis-regulatory variation is widespread in the human genome and that the consequent variation in gene expression is twofold or greater for 63% of the genes surveyed. Transcription factor-DNA interactions are highly polymorphic, and regulatory interactions have been gained and lost within human populations. On average, humans are heterozygous at more functional cis-regulatory sites (>16,000) than at amino acid positions (<13,000), in part because of an overrepresentation among the former in multiallelic tandem repeat variation, especially (AC)(n) dinucleotide microsatellites. The role of microsatellites in gene expression variation may provide a larger store of heritable phenotypic variation, and a more rapid mutational input of such variation, than has been realized. Finally, we outline the distinctive consequences of cis-regulatory variation for the genotype-phenotype relationship, including ubiquitous epistasis and genotype-by-environment interactions, as well as underappreciated modes of pleiotropy and overdominance. Ordinary small-scale mutations contribute to pervasive variation in transcription rates and consequently to patterns of human phenotypic variation.

NASA Discipline Evolutionary Biology↗
NASA NTRS2002

Do convergent developmental mechanisms underlie convergent phenotypes?

Convergence is a pervasive evolutionary process, affecting many aspects of phenotype and even genotype. Relatively little is known about convergence in developmental processes, however, nor about the degree to which convergence in development underlies convergence in anatomy. A switch in the ecology of sea urchins from feeding to nonfeeding larvae illustrates how convergence in development can be associated with convergence in anatomy. Comparisons to more distantly related taxa, however, suggest that this association may be limited to relatively close phylogenetic comparisons. Similarities in gene expression during development provide another window into the association between convergence in developmental processes and convergence in anatomy. Several well-studied transcription factors exhibit likely cases of convergent gene expression in distantly related animal phyla. Convergence in regulatory gene expression domains is probably more common than generally acknowledged, and can arise for several different reasons. Copyright 2002 S. Karger AG, Basel.

NASA Discipline Evolutionary Biology↗
NASA NTRS2002

Amphioxus and lamprey AP-2 genes: implications for neural crest evolution and migration patterns

The neural crest is a uniquely vertebrate cell type present in the most basal vertebrates, but not in cephalochordates. We have studied differences in regulation of the neural crest marker AP-2 across two evolutionary transitions: invertebrate to vertebrate, and agnathan to gnathostome. Isolation and comparison of amphioxus, lamprey and axolotl AP-2 reveals its extensive expansion in the vertebrate dorsal neural tube and pharyngeal arches, implying co-option of AP-2 genes by neural crest cells early in vertebrate evolution. Expression in non-neural ectoderm is a conserved feature in amphioxus and vertebrates, suggesting an ancient role for AP-2 genes in this tissue. There is also common expression in subsets of ventrolateral neurons in the anterior neural tube, consistent with a primitive role in brain development. Comparison of AP-2 expression in axolotl and lamprey suggests an elaboration of cranial neural crest patterning in gnathostomes. However, migration of AP-2-expressing neural crest cells medial to the pharyngeal arch mesoderm appears to be a primitive feature retained in all vertebrates. Because AP-2 has essential roles in cranial neural crest differentiation and proliferation, the co-option of AP-2 by neural crest cells in the vertebrate lineage was a potentially crucial event in vertebrate evolution.

NASA Discipline Evolutionary Biology↗