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Selection, recombination and demographic history in Drosophila miranda.

Selection, recombination, and the demographic history of a species can all have profound effects on genomewide patterns of variability. To assess the impact of these forces in the genome of Drosophila miranda, we examine polymorphism and divergence patterns at 62 loci scattered across the genome. In accordance with recent findings in D. melanogaster, we find that noncoding DNA generally evolves more slowly than synonymous sites, that the distribution of polymorphism frequencies in noncoding DNA is significantly skewed toward rare variants relative to synonymous sites, and that long introns evolve significantly slower than short introns or synonymous sites. These observations suggest that most noncoding DNA is functionally constrained and evolving under purifying selection. However, in contrast to findings in the D. melanogaster species group, we find little evidence of adaptive evolution acting on either coding or noncoding sequences in D. miranda. Levels of linkage disequilibrium (LD) in D. miranda are comparable to those observed in D. melanogaster, but vary considerably among chromosomes. These patterns suggest a significantly lower rate of recombination on autosomes, possibly due to the presence of polymorphic autosomal inversions and/or differences in chromosome sizes. All chromosomes show significant departures from the standard neutral model, including too much heterogeneity in synonymous site polymorphism relative to divergence among loci and a general excess of rare synonymous polymorphisms. These departures from neutral equilibrium expectations are discussed in the context of nonequilibrium models of demography and selection.

Animals↗

Chloroplast genome comparative analysis and phylogenetic relationships of 15 Syringa species (Oleaceae).

Syringa is a crucial shrub genus in the family Oleaceae, which has significant ornamental, economic, and medicinal value. However, research on the chloroplast genome (CPG) phylogeny and lineage diversification of this genus remains limited. In this study, all 15 Syringa CPGs exhibited a characteristic quadripartite structure, with genome lengths ranging from 154,019-158,020 bp. These CPGs were highly conserved and moderately differentiated, each containing 130-132 genes. Analysis of inverted repeat (IR) boundaries indicated structural conservation, with six genes: rps19, rpl2, ycf1, trnN, ndhF, and trnH present at the IR/single-copy (SC) junctions. The small single copy (SSC) region displayed greater sequence variability than the IR regions. ycf1, ndhH, trnL-rpl32, ndhF-ycf1, and rbcL-accD were identified as potential molecular markers and rps11, ycf2, and ycf4 may have contributed to the adaptive evolution of Syringa. Phylogenetic reconstruction based on whole CPG data supported the monophyly of the 15 species, which were divided into three distinct subclades. Molecular dating estimated that Syringa diverged from its sister genus approximately 58 million years ago, with most Syringa species diversifying further approximately 47.49 million years ago during the Eocene. Our findings will hopefully stimulate further studies on this genus that may enhance biodiversity knowledge.

Journal Article↗

What they are, how they work and why they do what they do? The story of SV40-derived gene therapy vectors and what they have to offer.

The natural function of viruses is to deliver their genetic material to cells. Among the most effective of viruses in doing that is Simian Virus-40 (SV40). The properties that make SV40 a successful virus make it an attractive candidate for use as a gene delivery vehicle: high titer replication, infectivity for almost all nucleated cell types whether the cells are dividing or resting, potential for integration into cellular DNA, a peculiar pathway for entering cells that bypasses the cells' antigen processing apparatus, very high stability, and the apparent ability to activate expression of its own capsid genes in trans. Exploiting these and other characteristics of wild type (wt) SV40, increasing numbers of laboratories are studying recombinant (r) SV40-derived vectors. Among the uses to which these vectors have been applied are: delivering therapy to inhibit HIV, hepatitis C virus (HCV) and other viruses; correction of inherited hepatic and other protein deficiencies; immunizing against lentiviral and other antigens; treatment of inherited and acquired diseases of the central nervous system; protecting the lung and other organs from free radical-induced injury; and many others. The effectiveness of these vectors is a reflection of the adaptive evolution that produced their parent virus, wt SV40. This article explores how and why these vectors work, their strengths and their limitations, and provides a functional model for their exploitation for experimental and clinical applications.

Animals↗

Biogeography of Asterias: North Atlantic climate change and speciation.

Fossil evidence suggests that the seastar genus Asterias arrived in the North Atlantic during the trans-Arctic interchange around 3.5 Ma. Previous genetic and morphological studies of the two species found in the Atlantic today suggested two possible scenarios for the speciation of A. rubens and A. forbesi. Through phylogenetic and population genetic analysis of data from a portion of the cytochrome oxidase I mitochondrial gene and a fragment of the ribosomal internal transcribed spacer region, I show that the formation of the Labrador Current 3.0 Ma was probably responsible for the initial vicariance of North Atlantic Asterias populations. Subsequent adaptive evolution in A. forbesi was then possible in isolation from the European species A. rubens. The contact zone between these two species formed recently, possibly due to a Holocene founding event of A. rubens in New England and the Canadian Maritimes.

Animals↗

Chromosome-Level Genome Assembly of Solanum carolinense.

Horsenettle (Solanum carolinense L.) is a noxious weed widely distributed across North America and increasingly invasive in other regions. Its strong environmental adaptability, complex defense strategies, and distinctive reproductive traits make it an important model for studying plant-herbivore coevolution. However, the absence of high-quality genomic resources has limited deeper investigation into its adaptive evolutionary mechanisms. In this study, we generated a chromosome-level reference genome assembly for S. carolinense using an integrated approach combining PacBio HiFi long-read sequencing, Illumina second-generation sequencing, and Hi-C chromatin interaction scaffolding. The final genome assembly had a total length of 915.40 Mb, with a contig N50 of 51.06 Mb and a scaffold N50 of 73.17 Mb; 96.05% of the sequences were successfully anchored onto 12 pseudochromosomes. The genome was characterized by a high proportion of repetitive sequences (73.64%) and substantial heterozygosity (1.13%), consistent with a highly repetitive and moderately high heterozygous genome. BUSCO analysis indicated that the chromosome-level genome assembly of S. carolinense reached a completeness score of 94.8%. A total of 32,206 protein-coding genes were annotated, of which 97.95% received functional annotations. The evaluation of the annotated protein-coding gene set returned a completeness value of 94.9%. This reference genome provides a valuable resource for advancing research on the adaptive evolution of weedy Solanaceae species, supports the development of more effective management strategies for this troublesome species, and offers a technical reference for assembling other highly heterozygous weed genomes.

Solanum carolinense↗

[Population dynamics of the additive polygenic system under truncation selection].

Common features of the equations describing dynamics of the additive polygenic system under truncation selection are summarized. A combination of parameters playing the role of the effective selective pressure on the ith polygenic locus was revealed. The product of mean relative fitnesses of the individual polygenic loci, [formula: see text], was shown to play the role of relative mean fitness of the polygenic population. This value depends on the measurable parameters of the character distribution in the population: [formula: see text]. It was shown that under the constant population number during truncation selection, the characteristic of the best genotype increases, [formula: see text]; which is also a product of the frequencies of preferable genotypes at individual polygenic loci. This value plays the role of the proportion of the number of the best ("champion") genotype in the population. In fact, this is the champion genotype polygene consensus pattern frequency, which a priori indicates the possibility of the champion pattern fixation. The analogue of Haldane's dilemma for the polygenic system which restrict the number of polygenes simultaneously subjected to adaptive evolution [formula: see text] was obtained for the case of constant effective population number (Ne = const).

Genotype↗

Gastrin-cholecystokinin immunoreactivity in the central nervous system of Helix aspersa during rest and activity.

The immunostaining pattern for the peptide gastrin/cholecystokinin 8 (gastrin/CCK8) in the molluscan central nervous system has been considered. The changes in the distribution of gastrin/CCK8 immunoreactivity were analyzed in the neurons of different areas of the cerebral ganglia (mesocerebrum and metacerebrum) and in the buccal ganglia of the terrestrial snail Helix aspersa, during rest and active phases. During the period of inactivity and after one day of activity, there were several immunoreactive neurons in the mesocerebrum and metacerebrum of the snails and in the buccal ganglia, whereas after 7 days of activity the number of labeled neurons decreased. Data suggested a storage of gastrin/CCK8 in the neurons when behavioral activities in which the peptide is involved (such as feeding-related behavior) are suppressed or reduced. The different percentage of gastrin/CCK8 immunoreactive neurons in the left and right mesocerebrum provides information about the activities controlled by these neurons, which could be related to the adaptive evolution and plasticity of the brain in terrestrial pulmonates.

Animals↗

Evolutionary history of the uterine serpins.

A bioinformatics analysis was conducted on the four members of the uterine serpin (US) family of serpins. Evolutionary analysis of the protein sequences and 86 homologous serpins by maximum parsimony and distance methods indicated that the uterine serpins proteins form a clade distinct from other serpins. Ancestral sequences were reconstructed throughout the evolutionary tree by parsimony. These suggested that some branches suffered a high ratio of nonsynonymous to synonymous mutations, suggesting episodes of adaptive evolution within the serpin family. Analysis of the sequences by neutral evolutionary distance methods suggested that the uterine serpins diverged from other serpins prior to the divergence of the mammals from other vertebrates. The porcine uterine serpins are paralogs that diverged from a single common ancestor within the Sus genus after pigs separated from other artiodactyls. The uterine serpins contain several protein kinase C and tyrosine kinase phosphorylation sites. These sites may be important for the lymphocyte-inhibitory activity of OvUS if, like other basic proteins, OvUS can cross the cell membrane of an activated lymphocyte. Internalized OvUS could serve as an alternative target to protein kinases important for the mitogenic response to antigens.

Amino Acid Sequence↗

The evolutionary demography of duplicate genes.

Although gene duplication has generally been viewed as a necessary source of material for the origin of evolutionary novelties, the rates of origin, loss, and preservation of gene duplicates are not well understood. Applying steady-state demographic techniques to the age distributions of duplicate genes censused in seven completely sequenced genomes, we estimate the average rate of duplication of a eukaryotic gene to be on the order of 0.01/ gene/million years, which is of the same order of magnitude as the mutation rate per nucleotide site. However, the average half-life of duplicate genes is relatively small, on the order of 4.0 million years. Significant interspecific variation in these rates appears to be responsible for differences in species-specific genome sizes that arise as a consequence of a quasi-equilibrium birth-death process. Most duplicated genes experience a brief period of relaxed selection early in their history and a minority exhibit the signature of directional selection, but those that survive more than a few million years eventually experience strong purifying selection. Thus, although most theoretical work on the gene-duplication process has focused on issues related to adaptive evolution, the origin of a new function appears to be a very rare fate for a duplicate gene. A more significant role of the duplication process may be the generation of microchromosomal rearrangements through reciprocal silencing of alternative copies, which can lead to the passive origin of post-zygotic reproductive barriers in descendant lineages of incipient species.

Animals↗

Multiple cases of striking genetic similarity between alternate electric fish signal morphs in sympatry.

Striking trait polymorphisms are worthy of study in natural populations because they can often shed light on processes of phenotypic divergence and specialization, adaptive evolution, and (in some cases) the early stages of speciation. We examined patterns of genetic variation within and between populations of mormyrid fishes that are morphologically cryptic in sympatry but produce alternate types of electric organ discharge (EOD). Other species in a large group containing a clade of these morphologically cryptic EOD types produce stereotyped, species-typical EOD waveforms thought to function in mate recognition. First, for six populations from Gabon's Brienomyrus species flock, we confirm that forms of electric fish that exhibit distinctive morphologies and unique EOD waveforms (i.e., good reference species) are reproductively isolated from coexisting congeners. These sympatric species deviate from genetic panmixia across five microsatellite loci. Given this result, we examined three focal pairs of syntopic and morphologically cryptic EOD waveform types that are notable exceptions to the pattern of robust genetic partitioning among unique waveform classes within assemblages. These exceptional pairs constitute a monophyletic group within the Brienomyrus flock known as the magnostipes complex. One member of each pair (type I) produces a head-negative EOD, while the other member (either type II or type III, depending on location) produces a longer duration EOD differing in waveform from type I. We show that signal development in these pairs begins with juveniles of all magnostipes-complex morphs emitting head-positive EODs resembling those of type II adults. Divergence of EOD waveforms occurs with growth such that there are two discrete and fixed signal types in morphologically indistinguishable adults at each of several localities. Strong microsatellite partitioning between allopatric samples of any of these morphologically cryptic signal types suggests that geographically isolated populations are genetically decoupled from one another. By contrast, sympatric morphs appear genetically identical across microsatellite loci in Mouvanga Creek and the Okano River and only very weakly diverged, if at all, in the Ivindo River. Our results for the magnostipes complex fail to detect species boundaries between the focal morphs and are, instead, fully consistent with the existence of relatively stable signal dimorphisms at each of several different localities. No mechanism for the maintenance of this electrical polymorphism is suggested by the known natural history of the magnostipes complex. Despite a lack of evidence for genetic differentiation, the possibility of incipient sympatric speciation between morphs (especially type I and type II within the Ivindo River) merits further testing due to behavioral and neurobiological lines of evidence implying a general role for stereotyped EOD waveforms in species recognition. We discuss alternative hypotheses concerning the origins, stability, and evolutionary significance of these intriguing electrical morphs in light of geographical patterns of population structure and signal variation.

Action Potentials↗

Intraspecific hybridization and the recovery of fitness in the native legume Chamaecrista fasciculata.

Genetic incompatibilities and low offspring fitness are characteristic outcomes of hybridization between species. Yet, the creative potential of recombination following hybridization continues to be debated. Here we quantify the outcome of hybridization and recombination between adaptively divergent populations of the North American legume Chamaecrista fasciculata in a large-scale field experiment. Previously, hybrids between these populations demonstrated hybrid breakdown, suggesting the expression of adaptive epistatic interactions underlying population genetic differentiation. However, the outcome of hybridization ultimately rests on the performance of even later generation recombinants. In experiments that compared the performance of recombinant F6 and F2 generations with nonrecombinant F1 and parental genotypes, we observed that increasing recombination had contrasting effects on different life-history components. Lifetime fitness, defined as the product of survivorship and reproduction, showed a strong recovery of fitness in the F6. The overall gain in fitness with increased recombination suggests that hybridization and recombination may provide the necessary genetic variation for adaptive evolution within species. We discuss the mechanisms that may account for the gain in fitness with recombination, and explore the implications for hybrid speciation and phenotypic evolution.

Biological Evolution↗

Putting the wrong fuel in the tank.

Three recent observations when considered together indicate means whereby the health of Western countries could be improved and certain diseases still rare in developing countries avoided. The first is the recognition that many of the commonest chronic disorders in more economically developed countries are characteristic of modern Western lifestyles; the second is that these disorders can be considered to be manifestations of maladaptation to a new environment; and the third is the knowledge now available of the types of environment to which man has, through evolution, adapted.

Diet↗

Contrasting signals of selection at the EDAR gene in global and Latin American populations.

The EDAR gene is a classic target of positive selection in humans, mainly through the nonsynonymous variant rs3827760 (EDARV370A) associated with ectodermal traits. Using high-resolution data from the 1000 Genomes Project, we combined sliding-window F_ST, BayeScan, and extended haplotype homozygosity (EHH) analyses to examine global and Latin American patterns of differentiation. Globally, a strong signal of positive selection was confirmed at EDAR, dominated by the rs3827760 haplotype background and its extended linkage disequilibrium structure. In contrast, within Latin America, differentiation reflected admixture-driven haplotype persistence rather than contemporary selection. A genome-wide FST scan comparing individuals from the upper and lower quartiles of Native American ancestry showed that EDAR lies among the most highly differentiated regions in this contrast, consistent with ancestry-driven haplotype structure rather than post-admixture adaptive evolution. These results indicate that EDAR retains its evolutionary signature globally but not within recently admixed populations, where demographic history rather than selection shapes its genetic landscape.

Humans↗

[Quantitative histoenzymological and biochemical studies of the stages of atherogenesis in human coronary arteries (based on the data of early autopsies].

Histochemical methods were used to study the dynamics of activity of energetic metabolism enzymes (EME) in cell elements of the human coronary artery (CA) wall in comparison with biochemical values of lipid metabolism in the plasma. The development of CA atherosclerosis was shown to be determined to a large extent by reciprocal relations of antiatherogenic alpha-lipoproteins and atherogenic beta-lipoproteins in their influence on EME activity. An increased EME activity at early stages of atherogenesis (lipid plaque) is an adaptation to changed homeostasis. The lipid plaque is a turning point in the process of metabolic adaptation. Evolution of atherosclerotic changes is accompanied by disjunction and transformation of correlative connections between EME activity in CA wall cells.

Adenosine Triphosphatases↗

Experiences with U.C.I. total knee.

In 200 low friction knee arthroplasties with a minimum follow-up of 2 years the primary goal of relief from pain was accomplished in most patients. However, the evaluation of the result of a knee arthroplasty is difficult. Many of the patients who rated good or better had, to some extent, patellofemoral complaints. Cold flow deformation and prosthetic loosening is a definite concern about the tibial component. A longer follow-up study is needed to better evaluate the significance of the one to 2 mm radiolucent line at the bone cement interface of the tibial component. Collateral and cruciate ligament deterioration with time is also of concern and warrants careful follow-up. Although most patients patients in this series were greatly relieved of pain, even better results might have been obtained if the arthroplasty included the patellofemoral joint and a more substantial tibial component with better fixation. By our rating criteria, rheumatoid patients, in general, were benefited the most. Patients, surgeons and engineers realize that the natural human knee joint is a remarkable product of adaptive evolution, and that it may be imitated with increasing success though it can never be duplicated.

Adult↗

[Water homeostasis in amphibia: vasotocin and hydrins].

Water homeostasis is ensured in vertebrates through neuroendocrine reflexes involving hormones and specialized exchange organs depending whether the habitat is freshwater, sea or land. Amphibians have a development recapitulating two adaptive programs, first a freshwater fish program as a tadpole, then a land vertebrate program as an adult. The second, however, is imperfect because of the great evaporative water loss through the skin when the animal is in the open air. This loss must be compensated by water reabsorption through the nephron, the urinary bladder and mainly by water uptake through the skin. Water reabsorption by the nephron is not as efficient as in higher vertebrates but water uptake through the skin is crucial because adult amphibians, like tadpoles, do not drink. Adaptation occurred at the level of three organs, nephron, urinary bladder and skin whose permeability is under control of specific hormones. Aside from vasotocin, active on these three organs, differential maturation of provasotocin led to processing-arrested intermediates, namely vasotocinyl-Gly in virtually all anuran amphibians and vasotocinyl-Gly-Lys-Arg in Xenopus laevis. These intermediates result from a down regulation of the alpha-amidating enzyme or carboxypeptidase E, respectively. They have been termed hydrin 2 and hydrin 1 because they are endowed with hydroosmotic properties equal or superior to those of vasotocin on the skin and the bladder. However, in contrast to vasotocin, they are devoid of antidiuretic activity. Adaptive evolution has created, aside from the osmoregulatory vasotocin-nephron system that was preserved in strictly terrestrial nonmammalian tetrapods, additional functions such as the hydrin-skin and the hydrin-bladder rehydrations with specific messengers and organs. The adjuvant systems disappeared in true land vertebrates because the vasotocin-nephron system became more efficient.

Amphibians↗

[Protozoa as reservoirs for human bacterial pathogens].

The ability of bacterial pathogens to survive within the human host cells results from their evolutional adaptation of which the most important stage could be the development of parasitic relations between bacteria and free-living protozoa. This paper shows the bacterial species, pathogenic for man, surviving in protozoans cells.

Adaptation, Physiological↗

[Kinetics of xylanase and cellulase production by Ascobolus gamundii (Fungi, Ascomycotina)].

Growth and cellulase-xylanase enzyme systems production by Ascobolus gamundii were evaluated in synthetic media with or without natural inducers. The basal level of enzyme complexes was determined using glucose as carbon source. With crystalline cellulose, the amount of endoglucanase and beta-glucosidase was 2-4 times the basal, and the level of endoxylanase and beta-xylosidase was 3 times higher than that observed with glucose. When using xylan as carbon source, endoxylanase and endoglucanase were induced. The higher production of the enzyme systems was observed during the log-phase growth of A. gamundii with a mixture of cellulose and xylan as carbon source. The generalized induction of both enzyme complexes could be due to evolutive adaptation to the substrate (herbivore dung) in which cellulose and hemicellulose are associated to conform the plants cell-walls.

Ascomycota↗