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A nonracial craniofacial perspective on human variation: A(ustralia) to Z(uni).

Dental and craniofacial measurements were collected for 57 samples from Asia, the Pacific, the aboriginal western hemisphere, and Europe. The craniofacial dimensions include many that are not obviously under the control of specific selective forces. Similar configurations for these in different samples should yield indications of recency of common ancestry according to the logic expressed by Darwin and evident in the relationships indicated by nuclear DNA comparisons. Dental dimensions, however, vary according to the length of time that different intensities in selective forces have been in operation. The craniofacial measurements were transformed into C scores and used to generate Euclidean distance dendrograms. When all the material was used to generate a single dendrogram, the European and Amerindian samples sorted into two regionally identifiable clusters, and the Asian and Pacific material sorted into the three clusters identified in separate previous studies: a Mainland Asian cluster, a Jomon-Pacific cluster and an Australo-Melanesian cluster. Since these clusters are based on variation in traits that are basically nonadaptive in nature, no hierarchical ranking is possible. The clusters simply reflect degree of relationship. This technique holds forth the promise of producing a nonracial assessment of the relationships of all the peoples of the world, past and present.

Australia↗

Adaptive evolution of variable region genes encoding an unusual type of immunoglobulin in camelids.

A typical immunoglobulin (Ig) molecule is composed of four polypeptide chains: two identical heavy (H) chains and two identical light (L) chains. This tetrameric structure is conserved in almost all jawed vertebrate species. However, it has been discovered that camels and llamas (family: Camelidae) possess a type of dimeric Ig that consists of two H chains only. These H chains do not associate with L chains, and they do not have the first constant region (CH1), which is present in the conventional Ig. In spite of these changes, the dimeric Ig maintains the normal immune function. To understand the evolution of the dimeric Ig, we studied the phylogenetic relationships of the variable region (V(H)H) genes of the dimeric Ig from Camelidae and those (V(H)) of the conventional Ig from mammals. The results showed that the V(H)H genes form a monophyletic cluster within one of the mammalian V(H) groups, group C. We examined the type of selective force in complementarity-determining regions (CDRs) and framework regions (FRs) by comparing the rate of synonymous (dS) and nonsynonymous (dN) substitutions. We found that the results obtained from V(H)H genes were similar to those from V(H) genes in that CDRs showed an excess of dN over dS (indicating positive selection), whereas the reverse was true for FRs (purifying selection). However, when the extent of positive selection or purifying selection was investigated at each codon site, three major differences between V(H)H and V(H) genes were found. That is, very different types of selective force were observed between V(H)H and V(H) genes (1) at the sites that contact the L chain in the conventional Ig, (2) at the sites that interact with the CH1 region in the conventional Ig, and (3) in the H1 loop. Our findings suggest that adaptive evolution has occurred in the functionally important sites of the V(H)H genes to maintain the normal immune function in the dimeric Ig.

Amino Acid Substitution↗

Speciation in rapidly diverging systems: lessons from Lake Malawi.

Rapid evolutionary radiations provide insight into the fundamental processes involved in species formation. Here we examine the diversification of one such group, the cichlid fishes of Lake Malawi, which have radiated from a single ancestor into more than 400 species over the past 700 000 years. The phylogenetic history of this group suggests: (i) that their divergence has proceeded in three major bursts of cladogenesis; and (ii) that different selective forces have dominated each cladogenic event. The first episode resulted in the divergence of two major lineages, the sand- and rock-dwellers, each adapted to a major benthic macrohabitat. Among the rock-dwellers, competition for trophic resources then drove a second burst of cladogenesis, which resulted in the differentiation of trophic morphology. The third episode of cladogenesis is associated with differentiation of male nuptial colouration, most likely in response to divergent sexual selection. We discuss models of speciation in relation to this observed pattern. We advocate a model, divergence with gene flow, which reconciles the disparate selective forces responsible for the diversification of this group and suggest that the nonadaptive nature of the tertiary episode has significantly contributed to the extraordinary species richness of this group.

Africa, Eastern↗

Synonymous codon usage is subject to selection in thermophilic bacteria.

The patterns of synonymous codon usage, both within and among genomes, have been extensively studied over the past two decades. Despite the accumulating evidence that natural selection can shape codon usage, it has not been possible to link a particular pattern of codon usage to a specific external selective force. Here, we have analyzed the patterns of synonymous codon usage in 40 completely sequenced prokaryotic genomes. By combining the genes from several genomes (more than 80 000 genes in all) into a single dataset for this analysis, we were able to investigate variations in codon usage, both within and between genomes. The results show that synonymous codon usage is affected by two major factors: (i) the overall G+C content of the genome and (ii) growth at high temperature. This study focused on the relationship between synonymous codon usage and the ability to grow at high temperature. We have been able to eliminate both phylogenetic history and lateral gene transfer as possible explanations for the characteristic pattern of codon usage among the thermophiles. Thus, these results demonstrate a clear link between a particular pattern of codon usage and an external selective force.

Bacteria↗

The heat-shock response and the molecular basis of genetic dominance.

Wild-type alleles are usually dominant over deleterious mutant alleles. For a particular pair of such alleles possible populations include a wild-type homozygote population, a heterozygote population, and a mutant homozygote population. Fisher's theory that dominance would evolve by selection acting on the heterozygote subpopulation has lost ground in favour of the "dose-response" theory under which dominance is an incidental consequence of selection acting on the wild-type homozygote population. This postulates a "margin of safety" in the quantity of wild-type gene product so that heterozygotes with only one copy of a wild-type allele still have sufficient product for normal function. The selective force postulated to lead to the evolution of this margin of safety is some unspecified "extreme environment disturbance". The author has proposed elsewhere that the heat-shock response evolved very early as part of an intracellular system for self/not-self discrimination. This paper proposes that the rapid decrease in quantity of most normal proteins occurring in the heat-shock response would have provided a sufficient selective force for the margin of safety to have evolved.

Animals↗

The evolutionary genetic underpinnings of schizophrenia: the developmental instability model.

The importance of genes in the etiology of schizophrenia is well known, but the manner in which the relevant genomic factors influence neural development and the nature of selection forces operating on these factors are poorly understood. In several prominent papers, Crow has provided a unique and comprehensive theory that attempts to deal with these issues. A central aspect of his theory is that a single gene leads to reduced cerebral lateralization, increased ventricular size, and risk for developing schizophrenia. He relies greatly on Annett's right shift theory of individual variation in handedness. An alternative approach, based on the construct of developmental instability, provides a different way to conceptualize genetic influences, selection forces, and atypical lateralization in schizophrenia. We suggest that the developmental instability model has stronger empirical support and is better grounded in contemporary evolutionary genetics.

Biological Evolution↗

Intrasubject variability of selected force-platform parameters in the quantification of postural control.

Platform stabilometry is increasingly applied to monitor or re-educate standing balance in clinical rehabilitation. Consequently, insight is needed into the validity, reliability, and sensitivity of different force-platform parameters. This study focuses on the intrasubject variability as the major source of variance (unreliability) in the study of human motor skills. The intrasubject variability of several, commonly applied force-platform parameters was determined across ten repeated tests of quiet two-legged standing in healthy subjects to identify the most consistent and stable parameters in the quantification of postural control. The variability of the root mean square (RMS) amplitude, peak-to-peak amplitude, mean frequency, and RMS velocity of the fore-aft and lateral components of the center-of-pressure fluctuations was investigated under varying (visual and cognitive) task conditions. The results indicate that all selected parameters show considerable intrasubject variability irrespective of the task context. Nonetheless, both the RMS amplitude and RMS velocity in either direction of sway do not demonstrate a significant trend across repeated tests. Among the selected parameters, the RMS velocity in the fore-aft direction shows the greatest intrasubject consistency, as well as a high sensitivity to, for example, visual deprivation. These findings support the reliability and validity of this parameter in the clinical quantification of postural control.

Adult↗

Shared and unique features of evolutionary diversification.

A fundamental question in evolutionary biology asks whether organisms experiencing similar selective pressures will evolve similar solutions or whether historical contingencies dominate the evolutionary process and yield disparate evolutionary outcomes. It is perhaps most likely that both shared selective forces as well as unique histories play key roles in the course of evolution. Consequently, when multiple species face a common environmental gradient, their patterns of divergence might exhibit both shared and unique elements. Here we describe a general framework for investigating and evaluating the relative importance of these contrasting features of diversification. We examined morphological diversification in three species of livebearing fishes across a predation gradient. All species (Gambusia affinis from the United States of America, Brachyrhaphis rhabdophora from Costa Rica, and Poecilia reticulata from Trinidad) exhibited more elongate bodies, a larger caudal peduncle, and a relatively lower position of the eye in predator populations. This shared response suggests that common selective pressures generated parallel outcomes within three different species. However, each species also exhibited unique features of divergence, which might reflect phylogenetic tendencies, chance events, or localized environmental differences. In this system, we found that shared aspects of divergence were of larger magnitude than unique elements, suggesting common natural selective forces have played a greater role than unique histories in producing the observed patterns of morphological diversification. Assessing the nature and relative importance of shared and unique responses should aid in elucidating the relative generality or peculiarity in evolutionary divergence.

Animals↗

Upper limb dynamic responses to impulsive forces for selected assembly workers.

This study evaluated the upper limb, dynamic, mechanical response parameters for 14 male assembly workers recruited from selected jobs based on power tool use. It was hypothesized that the type of power tool operation would affect stiffness, effective mass, and damping of the upper extremity; and workers with symptoms and positive physical examination findings would have different mechanical responses than asymptomatic workers without physical examination findings. Participants included operators who regularly used torque reaction power hand tools, such as nutrunners and screwdrivers, and nontorque reaction power hand tools, such as riveters. The mechanical parameters of the upper limb were characterized from the loading response of an apparatus having known dynamic properties while worker grasps an oscillating handle in free vibration. In addition, all workers underwent a physical examination, magnetic resonance imaging, and completed a symptom survey. Workers were categorized as controls or cases based on reported forearm symptoms and physical exam findings. A total of seven workers were categorized as cases and had less average mechanical stiffness (46%, p > 0.01), damping (74%, p > 0.01), and effective mass (59%, p > 0.05) than the seven workers categorized as controls. Magnetic resonance imaging (MRI) findings suggestive of muscle edema were observed for two workers classified as cases and who regularly used torque reaction power tools. No MRI enhancement was observed in the seven subjects who did not regularly use torque reaction power tools. The ergonomic consequences of less stiffness, effective mass, and damping in symptomatic workers may include reduced capacity to react against rapidly building torque reaction forces encountered when operating power hand tools.

Adult↗

Towards the rational development of molecularly imprinted polymers: 1H NMR studies on hydrophobicity and ion-pair interactions as driving forces for selectivity.

The preparation of molecularly imprinted polymers (MIP) based on non-covalent interactions has become a widely used technique for creating highly specific sorbent materials predominantly used in separation chemistry. A crucial factor in a successful imprinting protocol is the optimisation of the template/functional monomer interaction in the pre-polymerisation mixture, eventually leading to a maximum of high-affinity binding sites in the resulting polymer matrix. In order to develop more efficient preparation technologies for imprinted polymers, two separate pre-polymerisation complexes were investigated by NMR spectroscopic techniques in order to identify the types of interactions occurring in the pre-polymerisation mixture, and their implications for the subsequently formed imprinted polymer. In particular, hydrophobic effects have been followed by NMR spectroscopy and their contribution to the selectivity of the resulting MIP has been investigated. The 2,4-D imprint system is used as an example to fundamentally study whether observations at the pre-polymerisation stage correlate with properties of the finally prepared MIP, and which parameters govern success of an imprinting protocol.

Coated Materials, Biocompatible↗

Background selection and patterns of genetic diversity in Drosophila melanogaster.

Theoretical models of the effects of selection against deleterious mutations on variation at linked neutral sites (background selection) are used to predict the relations between chromosomal location and genetic variability at the DNA level, in Drosophila melanogaster. The sensitivity of the predictions to variation in the mutation, selection and recombination parameters on which they are based is examined. It is shown that many features of the observed relations between chromosomal location and level of genetic diversity in D. melanogaster can be explained by background selection, especially if the weak selective forces acting on transposable elements are taken into account. In particular, the gradient in diversity in the distal portion of the X chromosome, and the lack of diversity on chromosome 4 and at the bases of the major chromosomes, can be fully accounted for. There are, however, discrepancies between predicted and observed values for some loci in D. melanogaster, which may reflect the effects of forces other than background selection.

Animals↗

Codon and amino acid usage in two major human pathogens of genus Bartonella--optimization between replicational-transcriptional selection, translational control and cost minimization.

Intra-genomic variation in synonymous codon and amino acid usage in two human pathogens Bartonella henselae and B. quintana has been carried out through multivariate analysis. Asymmetric mutational bias, coupled with replicational-transcriptional selection, has been identified as the prime selection force behind synonymous codon selection--a characteristic of the genus Bartonella, not exhibited by any other alpha-proteobacterial genome. Distinct codon usage patterns and low synonymous divergence values between orthologous sequences of highly expressed genes from the two Bartonella species indicate that there exists a residual intra-strand synonymous codon bias in the highly expressed genes, possibly operating at the level of translation. In the case of amino acid usage, the mean hydropathy level and aromaticity are the major sources of variation, both having nearly equal impact, while strand-specific mutational pressure and gene expressivity strongly influence the inter-strand variations. In both species under study, the highly expressed gene products tend not to contain heavy and/or aromatic residues, following the cost-minimization hypothesis in spite of their intracellular lifestyle. The codon and amino acid usage in these two human pathogens are, therefore, consequences of a complex balance between replicational-transcriptional selection, translational control, protein hydropathy and cost minimization.

Amino Acids↗

Dual role of mannan-binding protein in infections: another case of heterosis?

Human mannan-binding protein (MBP) is a serum lectin that participates in the immune defence by mediating phagocytosis and activation of complement. Variant MBP alleles causing dominant low-serum concentrations have high frequencies in all populations studied, and therefore, low MBP concentrations may confer selective advantages to those individuals carrying the variant alleles. Mycobacterium leprae, the causative agent of leprosy, is an obligate intracellular parasite dependent on phagocytosis to invade host cells. The serum concentrations of MBP in 36 Ethiopian patients (median: 1688 micrograms l-1) with lepromatous or borderline lepromatous leprosy were significantly (P < 0.001) higher than in 26 healthy Ethiopian blood donors (median: 368 micrograms l-1). Only 17% of the patients vs. 58% of the donors (P = 0.0019) had the relatively low MBP concentrations usually associated with variant alleles. Functional studies revealed that M. leprae and M. tuberculosis sonicates bind MBP as strongly as pure mannan. These observations suggest a role for mycobacteria as a selective force in the positive selection of alleles causing low levels of MBP and warrant genetic studies of patients infected with these bacteria.

Candida albicans↗

Genomic organization and evolution of the 5S ribosomal DNA in the ancient fish sturgeon.

Ribosomal DNA in sturgeon is informative when analyzed at the molecular level because it bears unique characteristics that are, to a certain extent, ancestral within vertebrates. In this paper, we examine the structure and the molecular evolution of the 5S ribosomal DNA (rDNA) region in 13 sturgeon species, comparing both the 5S ribosomal RNA (rRNA) genes and the non-transcribed spacer (NTS) sequences between the coding regions. We have found that different NTS and 5S gene variants are intermixed in the 5S rDNA arrays of the different sturgeon species and that all variants are ancestral, having been maintained over many millions of years. Using predictive models, we have found similar levels of sequence diversity in the coding regions, as well as in the non-coding region, but fixed interspecific differences are underrepresented for 5S genes. However, contrary to the expectations, we have not found fixed differences between NTS sequences when comparing many pairs of species. Specifically, when they belong to the same phylogeographic clade of the four into which the sturgeon is divided, but fixation of mutations and divergence is found between species belonging to different phylogeographic clades. Our results suggest that the evolution of the two parts of the 5S rDNA region cannot be explained exclusively as the outcome of a balance between mutational, homogenizing (i.e., gene conversion as a predominant force in sturgeon), and selective forces. Rather, they suggest that other factors (i.e., hybridization) might be superimposed over those forces and thus could to some extent be masking their effects.

Animals↗