MAINTENANCE OF GENETIC VARIATION IN HUMAN PERSONALITY: TESTING EVOLUTIONARY MODELS BY ESTIMATING HERITABILITY DUE TO COMMON CAUSAL VARIANTS AND INVESTIGATING THE EFFECT OF DISTANT INBREEDING

Personality traits are basic dimensions of behavioral variation, and twin, family, and adoption studies show that around 30% of the between‐individual variation is due to genetic variation. There is rapidly growing interest in understanding the evolutionary basis of this genetic variation. Several evolutionary mechanisms could explain how genetic variation is maintained in traits, and each of these makes predictions in terms of the relative contribution of rare and common genetic variants to personality variation, the magnitude of nonadditive genetic influences, and whether personality is affected by inbreeding. Using genome‐wide single nucleotide polymorphism (SNP) data from > 8000 individuals, we estimated that little variation in the Cloninger personality dimensions (7.2% on average) is due to the combined effect of common, additive genetic variants across the genome, suggesting that most heritable variation in personality is due to rare variant effects and/or a combination of dominance and epistasis. Furthermore, higher levels of inbreeding were associated with less socially desirable personality trait levels in three of the four personality dimensions. These findings are consistent with genetic variation in personality traits having been maintained by mutation–selection balance.     

Adaptive system identification applied to the biomechanical response of the human trunk during sudden loading

Epidemiological evidence indicates that sudden loading of the torso is a risk factor for low back injury. Accurately quantifying the time-varying loading of the spine during sudden loading events and how these loading profiles are affected by workplace factors such as fatigue, expectation, and training can potentially lead to intervention strategies that can reduce these risks. Electromyographic and trunk motion data were collected from six male participants who performed a series of sudden loading trials with varying levels of expectation (no preview, 300-ms audible preview), fatigue (no fatiguing exertion preceding sudden load, short duration/high intensity fatiguing exertion preceding sudden load), and training (untrained, trained). These data were used as inputs to an adaptive system identification model wherein time-varying lower back stiffness, torque, work, and impulse magnitudes were calculated. Results indicated that expectation significantly increased peak and average stiffness by 70% and 113%, respectively, and significantly decreased peak torque, work, and impulse magnitudes by 36%, 50%, and 45%, respectively. Training significantly decreased peak torque and work by 25% and 34%, respectively. The results also showed a significant interaction between expectation and training wherein training had a positive effect during the trials with preview but no effect during the trials with no preview (increased peak stiffness by 17% and decreased impulse magnitude by 43%).     

Natural hybridization between Senecio jacobaea and Senecio aquaticus: molecular and chemical evidence

Hybridization is known to be involved in a number of evolutionary processes, including species formation, and the generation of novel defence characteristics in plants. The genus Senecio of the Asteraceae family is highly speciose and has historically demonstrated significant levels of interspecific hybridization. The evolution of novel chemical defence characteristics may have contributed to the success of Senecio hybrids. Chemical defence against pathogens and herbivores has been studied extensively in the model species Senecio jacobaea, which is thought to hybridize in nature with Senecio aquaticus. Here, we use amplified fragment length polymorphisms (AFLPs) and pyrrolizidine alkaloid (PA) composition to confirm that natural hybridization occurs between S. jacobaea and the closely related species S. aquaticus. AFLPs are also used to estimate the ancestry of hybrids. We also demonstrate that even highly back-crossed hybrids can possess a unique mixture of defence chemicals specific to each of the parental species. This hybrid system may therefore prove to be useful in further studies of the role of hybridization in the evolution of plant defence and resistance.     

An empirical approach to characterizing trunk muscle coactivation using simulation input modeling techniques

Accurately describing trunk muscle coactivation is fundamental to quantifying the spine reaction forces that occur during lifting tasks and has been the focus of a great deal of research in the spine biomechanics literature. One limitation of previous approaches has been a lack of consideration given to the variability in these coactivation strategies. The research presented in this paper is an empirical approach to quantifying and modeling trunk muscle coactivation using simulation input modeling techniques. Electromyographic (EMG) data were collected from 28 human subjects as they performed controlled trunk extension exertions. These exertions included isokinetic (10 and 45°/s) and constant acceleration (50°/s/s) trunk extensions in symmetric and asymmetric (30°) postures at two levels of trunk extension moment (30 and 80 Nm). The EMG data were collected from the right and left pairs of the erector spinae, latissimus dorsi, rectus abdominis, external obliques and internal obliques. Each subject performed nine repetitions of each combination of independent variables. The data collected during these trials were used to develop marginal distributions of trunk muscle activity as well as a 10×10 correlation matrix that described how the muscles cooperated to produce these extension torques. These elements were then combined to generate multivariate distributions describing the coactivation of the trunk musculature. An analysis of these distributions revealed that increases in extension moment, extension velocity and sagittal flexion angle created increases in both the mean and the variance of the distributions of the muscular response, while increases in the rate of trunk extension acceleration decreased both the mean and variance of the distributions of activity across all muscles considered. Increases in trunk asymmetry created a decrease in mean of the ipsi–lateral erector spinae and an increase in the mean of all other muscles considered, but there was little change in the variance of these distributions as a function of asymmetry.     

Effects of pulsed and continuous wave 902 MHz mobile phone exposure on brain oscillatory activity during cognitive processing

The aim of the current double-blind studies was to partially replicate the studies by Krause et al. [2000ab, 2004] and to further investigate the possible effects of electromagnetic fields (EMF) emitted by mobile phones (MP) on the event-related desynchronisation/synchronisation (ERD/ERS) EEG (electroencephalogram) responses during cognitive processing. Two groups, both consisting of 36 male participants, were recruited. One group performed an auditory memory task and the other performed a visual working memory task in six exposure conditions: SHAM (no EMF), CW (continuous wave EMF) and PM (pulse modulated EMF) during both left- and right-side exposure, while the EEG was recorded. In line with our previous studies, we observed that the exposure to EMF had modest effects on brain oscillatory responses in the alpha frequency range ( approximately 8-12 Hz) and had no effects on the behavioural measures. The effects on the EEG were, however, varying, unsystematic and inconsistent with previous reports. We conclude that the effects of EMF on brain oscillatory responses may be subtle, variable and difficult to replicate for unknown reasons.     

Dynamic expression of a LEF‐EGFP Wnt reporter in mouse development and cancer

We have characterized a transgenic mouse line in which enhanced green fluorescent protein (EGFP) is expressed under the control of multimerized LEF‐1 responsive elements. In embryos, EGFP was detected in known sites of Wnt activation, including the primitive streak, mesoderm, neural tube, somites, heart, limb buds, mammary placodes, and whisker follicles. In vitro cultured transgenic embryonic fibroblasts upregulated EGFP expression in response to activation of Wnt signaling by GSK3β inhibition. Mammary tumor cell lines derived from female LEF‐EGFP transgenic mice treated with the carcinogen 7, 12‐dimethylbenz[a]anthracene (DMBA) also express EGFP. Thus, this transgenic line is useful for ex vivo and in vitro studies of Wnt signaling in development and cancer. genesis 48:183–194, 2010. © 2010 Wiley‐Liss, Inc.     

Population admixture,biological invasions and the balance between local adaptation and inbreeding depression

When previously isolated populations meet and mix, the resulting admixed population can benefit from several genetic advantages, including increased genetic variation, the creation of novel genotypes and the masking of deleterious mutations. These admixture benefits are thought to play an important role in biological invasions. In contrast, populations in their native range often remain differentiated and frequently suffer from inbreeding depression owing to isolation. While the advantages of admixture are evident for introduced populations that experienced recent bottlenecks or that face novel selection pressures, it is less obvious why native range populations do not similarly benefit from admixture. Here we argue that a temporary loss of local adaptation in recent invaders fundamentally alters the fitness consequences of admixture. In native populations, selection against dilution of the locally adapted gene pool inhibits unconstrained admixture and reinforces population isolation, with some level of inbreeding depression as an expected consequence. We show that admixture is selected against despite significant inbreeding depression because the benefits of local adaptation are greater than the cost of inbreeding. In contrast, introduced populations that have not yet established a pattern of local adaptation can freely reap the benefits of admixture. There can be strong selection for admixture because it instantly lifts the inbreeding depression that had built up in isolated parental populations. Recent work in Silene suggests that reduced inbreeding depression associated with post-introduction admixture may contribute to enhanced fitness of invasive populations. We hypothesize that in locally adapted populations, the benefits of local adaptation are balanced against an inbreeding cost that could develop in part owing to the isolating effect of local adaptation itself. The inbreeding cost can be revealed in admixing populations during recent invasions.     

Enzymatic activities and functional interdependencies of Bacillus subtilis lipoteichoic acid synthesis enzymes

Lipoteichoic acid (LTA) is an important cell wall polymer in Gram-positive bacteria. The enzyme responsible for polyglycerolphosphate LTA synthesis is LtaS, first described in Staphylococcus aureus. Four LtaS orthologues, LtaS(BS) , YfnI, YqgS and YvgJ, are present in Bacillus subtilis. Using an in vitro enzyme assay, we determined that all four proteins are Mn(2+) -dependent metal enzymes that use phosphatidylglycerol as a substrate. We show that LtaS(BS) , YfnI and YqgS can produce polymers, suggesting that these three proteins are bona-fide LTA synthases while YvgJ functions as an LTA primase, as indicated by the accumulation of a GroP-Glc(2) -DAG glycolipid. Western blot analysis of LTA produced by ltaS(BS) , yfnI, yqgS and yvgJ single, triple and the quadruple mutant, showed that LTA production was only abolished in the quadruple and the YvgJ-only expressing mutant. B. subtilis strains expressing YfnI in the absence of LtaS(BS) produced LTA of retarded mobility, presumably caused by an increase in chain length as suggested by a structural analysis of purified LTA. Taken together, the presented results indicate that the mere presence or absence of LTA cannot account for cell division and sporulation defects observed in the absence of individual enzymes and revealed an unexpected enzymatic interdependency of LtaS-type proteins in B. subtilis.