Boyajian, T. S.; LaCourse, D. M.; Rappaport, S. A.; Fabrycky, D.; Fischer, D. A.; Gandolfi, D.; Kennedy, G. M.; Korhonen, H.; Liu, M. C.; Moor, A.; Olah, K.; Vida, K.; Wyatt, M. C.; Best, W. M. J.; Brewer, J.; Ciesla, F.; Csak, B.; Deeg, H. J.; Dupuy, T. J.; Handler, G.
Spontaneous dizygotic (DZ) twinning occurs in 1%-4% of women, with familial clustering and unknown physiological pathways and genetic origin. DZ twinning might index increased fertility and has distinct health implications for mother and child. We performed a GWAS in 1,980 mothers of spontaneous DZ twins and 12,953 control subjects. Findings were replicated in a large Icelandic cohort and tested for association across a broad range of fertility traits in women. Two SNPs were identified (rs11031006 near FSHB, p = 1.54 × 10(-9), and rs17293443 in SMAD3, p = 1.57 × 10(-8)) and replicated (p = 3 × 10(-3) and p = 1.44 × 10(-4), respectively). Based on ∼90,000 births in Iceland, the risk of a mother delivering twins increased by 18% for each copy of allele rs11031006-G and 9% for rs17293443-C. A higher polygenic risk score (PRS) for DZ twinning, calculated based on the results of the DZ twinning GWAS, was significantly associated with DZ twinning in Iceland (p = 0.001). A higher PRS was also associated with having children (p = 0.01), greater lifetime parity (p = 0.03), and earlier age at first child (p = 0.02). Allele rs11031006-G was associated with higher serum FSH levels, earlier age at menarche, earlier age at first child, higher lifetime parity, lower PCOS risk, and earlier age at menopause. Conversely, rs17293443-C was associated with later age at last child. We identified robust genetic risk variants for DZ twinning: one near FSHB and a second within SMAD3, the product of which plays an important role in gonadal responsiveness to FSH. These loci contribute to crucial aspects of reproductive capacity and health.
Sea ice loss is accelerating in the Barents and Kara Seas (BKS). Assessing potential linkages between sea ice retreat/thinning and the region's ancient and unique social-ecological systems is a pressing task. Tundra nomadism remains a vitally important livelihood for indigenous Nenets and their large reindeer herds. Warming summer air temperatures have been linked to more frequent and sustained summer high-pressure systems over West Siberia, Russia, but not to sea ice retreat. At the same time, autumn/winter rain-on-snow (ROS) events have become more frequent and intense. Here, we review evidence for autumn atmospheric warming and precipitation increases over Arctic coastal lands in proximity to BKS ice loss. Two major ROS events during November 2006 and 2013 led to massive winter reindeer mortality episodes on the Yamal Peninsula. Fieldwork with migratory herders has revealed that the ecological and socio-economic impacts from the catastrophic 2013 event will unfold for years to come. The suggested link between sea ice loss, more frequent and intense ROS events and high reindeer mortality has serious implications for the future of tundra Nenets nomadism.
Age and gender are two important factors that play crucial roles in the way organisms allocate their social effort. In this study, we analyse a large mobile phone dataset to explore the way life history influences human sociality and the way social networks are structured. Our results indicate that these aspects of human behaviour are strongly related to age and gender such that younger individuals have more contacts and, among them, males more than females. However, the rate of decrease in the number of contacts with age differs between males and females, such that there is a reversal in the number of contacts around the late 30s. We suggest that this pattern can be attributed to the difference in reproductive investments that are made by the two sexes. We analyse the inequality in social investment patterns and suggest that the age- and gender-related differences we find reflect the constraints imposed by reproduction in a context where time (a form of social capital) is limited.
Leloudas G., Fraser M., Stone N. C., van Velzen S., Jonker P. G., Arcavi I., Fremling C., Maund J. R., Smartt S. J., Krìhler T., Miller-Jones J. C. A., Vreeswijk P. M., Gal-Yam A., Mazzali P. A., De Cia A., Howell D. A., Inserra C., Patat F., de Ugarte Postigo A., Yaron O., Ashall C., Bar I., Campbell H., Chen T.-W., Childress M., Elias-Rosa N., Harmanen J., Hosseinzadeh G., Johansson J., Kangas T., Kankare E., Kim S., Kuncarayakti H., Lyman J., Magee M. R., Maguire K., Malesani D., Mattila S., McCully C. V., Nicholl M., Prentice S., Romero-Cañizales C., Schulze S., Smith K. W., Sollerman J., Sullivan M., Tucker B. E., Valenti S., Wheeler J. C., Young D. R.
In a screen for unexplained mutation events we identified a previously unrecognized mechanism generating clustered DNA polymorphisms such as microindels and cumulative SNPs. The mechanism, short-patch double illegitimate recombination (SPDIR), facilitates short single-stranded DNA molecules to invade and replace genomic DNA through two joint illegitimate recombination events. SPDIR is controlled by key components of the cellular genome maintenance machinery in the gram-negative bacterium Acinetobacter baylyi. The source DNA is primarily intragenomic but can also be acquired through horizontal gene transfer. The DNA replacements are nonreciprocal and locus independent. Bioinformatic approaches reveal occurrence of SPDIR events in the gram-positive human pathogen Streptococcus pneumoniae and in the human genome.
The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort. These loci harbor genes that are likely to have a role, either directly or by affecting non-local gene expression, in human reproduction and infertility, thereby increasing understanding of these complex traits.
The goal of the study was to determine circadian movements of silver birch (Petula Bendula) branches and foliage detected with terrestrial laser scanning (TLS). The study consisted of two geographically separate experiments conducted in Finland and in Austria. Both experiments were carried out at the same time of the year and under similar outdoor conditions. Experiments consisted of 14 (Finland) and 77 (Austria) individual laser scans taken between sunset and sunrise. The resulting point clouds were used in creating a time series of branch movements. In the Finnish data, the vertical movement of the whole tree crown was monitored due to low volumetric point density. In the Austrian data, movements of manually selected representative points on branches were monitored. The movements were monitored from dusk until morning hours in order to avoid daytime wind effects. The results indicated that height deciles of the Finnish birch crown had vertical movements between -10.0 and 5.0 cm compared to the situation at sunset. In the Austrian data, the maximum detected representative point movement was 10.0 cm. The temporal development of the movements followed a highly similar pattern in both experiments, with the maximum movements occurring about an hour and a half before (Austria) or around (Finland) sunrise. The results demonstrate the potential of terrestrial laser scanning measurements in support of chronobiology.
In many species, male secondary sexual traits have evolved via female choice as they confer indirect (i.e. genetic) benefits or direct benefits such as enhanced fertility or survival. In humans, the role of men's characteristically masculine androgen-dependent facial traits in determining men's attractiveness has presented an enduring paradox in studies of human mate preferences. Male-typical facial features such as a pronounced brow ridge, a more robust jawline may signal underlying health while beards may signal men's age and masculine social dominance. However, masculine faces are judged as more attractive for short-term relationships over less masculine faces, while beards are judged as more attractive than clean-shaven faces for long-term relationships. Why such divergent effects occur between preferences for two sexually dimorphic traits remains unresolved. In the present study, we used computer graphic manipulation to morph male faces varying in facial hair from clean-shaven, light stubble, heavy stubble and full beards to appear more (+25% and +50%) or less (-25% and -50%) masculine. Women (N=8520) were assigned to treatments wherein they rated these stimuli for physical attractiveness in general, for a short-term liaison or a long-term relationship. Results showed a significant interaction between beardedness and masculinity on attractiveness ratings. Masculinized and, to an even greater extent, feminized faces were less attractive than unmanipulated faces when all were clean-shaven, and stubble and beards dampened the polarising effects of extreme masculinity and femininity. Relationship context also had effects on ratings, with facial hair enhancing long-term, and not short-term, attractiveness. Effects of facial masculinisation appears to have been due to small differences in the relative attractiveness of each masculinity level under the three treatment conditions and not to any change in the order of their attractiveness. Our findings suggest that beardedness may be attractive when judging long-term relationships as a signal of intra-sexual formidability and the potential to provide direct benefits to females. More generally, our results hint at a divergence of signalling function, which may result in a subtle trade-off in women's preferences, for two highly sexually dimorphic androgen-dependent facial traits. This article is protected by copyright. All rights reserved.
Atmospheric aerosols and their effect on clouds are thought to be important for anthropogenic radiative forcing of the climate, yet remain poorly understood. Globally, around half of cloud condensation nuclei originate from nucleation of atmospheric vapours. It is thought that sulfuric acid is essential to initiate most particle formation in the atmosphere, and that ions have a relatively minor role. Some laboratory studies, however, have reported organic particle formation without the intentional addition of sulfuric acid, although contamination could not be excluded. Here we present evidence for the formation of aerosol particles from highly oxidized biogenic vapours in the absence of sulfuric acid in a large chamber under atmospheric conditions. The highly oxygenated molecules (HOMs) are produced by ozonolysis of α-pinene. We find that ions from Galactic cosmic rays increase the nucleation rate by one to two orders of magnitude compared with neutral nucleation. Our experimental findings are supported by quantum chemical calculations of the cluster binding energies of representative HOMs. Ion-induced nucleation of pure organic particles constitutes a potentially widespread source of aerosol particles in terrestrial environments with low sulfuric acid pollution.
About half of present-day cloud condensation nuclei originate from atmospheric nucleation, frequently appearing as a burst of new particles near midday. Atmospheric observations show that the growth rate of new particles often accelerates when the diameter of the particles is between one and ten nanometres. In this critical size range, new particles are most likely to be lost by coagulation with pre-existing particles, thereby failing to form new cloud condensation nuclei that are typically 50 to 100 nanometres across. Sulfuric acid vapour is often involved in nucleation but is too scarce to explain most subsequent growth, leaving organic vapours as the most plausible alternative, at least in the planetary boundary layer. Although recent studies predict that low-volatility organic vapours contribute during initial growth, direct evidence has been lacking. The accelerating growth may result from increased photolytic production of condensable organic species in the afternoon, and the presence of a possible Kelvin (curvature) effect, which inhibits organic vapour condensation on the smallest particles (the nano-Köhler theory), has so far remained ambiguous. Here we present experiments performed in a large chamber under atmospheric conditions that investigate the role of organic vapours in the initial growth of nucleated organic particles in the absence of inorganic acids and bases such as sulfuric acid or ammonia and amines, respectively. Using data from the same set of experiments, it has been shown that organic vapours alone can drive nucleation. We focus on the growth of nucleated particles and find that the organic vapours that drive initial growth have extremely low volatilities (saturation concentration less than 10(-4.5) micrograms per cubic metre). As the particles increase in size and the Kelvin barrier falls, subsequent growth is primarily due to more abundant organic vapours of slightly higher volatility (saturation concentrations of 10(-4.5) to 10(-0.5) micrograms per cubic metre). We present a particle growth model that quantitatively reproduces our measurements. Furthermore, we implement a parameterization of the first steps of growth in a global aerosol model and find that concentrations of atmospheric cloud concentration nuclei can change substantially in response, that is, by up to 50 per cent in comparison with previously assumed growth rate parameterizations.
Most near-Earth objects came from the asteroid belt and drifted via non-gravitational thermal forces into resonant escape routes that, in turn, pushed them onto planet-crossing orbits. Models predict that numerous asteroids should be found on orbits that closely approach the Sun, but few have been seen. In addition, even though the near-Earth-object population in general is an even mix of low-albedo (less than ten per cent of incident radiation is reflected) and high-albedo (more than ten per cent of incident radiation is reflected) asteroids, the characterized asteroids near the Sun typically have high albedos. Here we report a quantitative comparison of actual asteroid detections and a near-Earth-object model (which accounts for observational selection effects). We conclude that the deficit of low-albedo objects near the Sun arises from the super-catastrophic breakup (that is, almost complete disintegration) of a substantial fraction of asteroids when they achieve perihelion distances of a few tens of solar radii. The distance at which destruction occurs is greater for smaller asteroids, and their temperatures during perihelion passages are too low for evaporation to explain their disappearance. Although both bright and dark (high- and low-albedo) asteroids eventually break up, we find that low-albedo asteroids are more likely to be destroyed farther from the Sun, which explains the apparent excess of high-albedo near-Earth objects and suggests that low-albedo asteroids break up more easily as a result of thermal effects.
Most mammals, birds, and reptiles are readily recognized by their hairs, feathers, and scales, respectively. However, the lack of fossil intermediate forms between scales and hairs and substantial differences in their morphogenesis and protein composition have fueled the controversy pertaining to their potential common ancestry for decades. Central to this debate is the apparent lack of an "anatomical placode" (that is, a local epidermal thickening characteristic of feathers' and hairs' early morphogenesis) in reptile scale development. Hence, scenarios have been proposed for the independent development of the anatomical placode in birds and mammals and parallel co-option of similar signaling pathways for their morphogenesis. Using histological and molecular techniques on developmental series of crocodiles and snakes, as well as of unique wild-type and EDA (ectodysplasin A)-deficient scaleless mutant lizards, we show for the first time that reptiles, including crocodiles and squamates, develop all the characteristics of an anatomical placode: columnar cells with reduced proliferation rate, as well as canonical spatial expression of placode and underlying dermal molecular markers. These results reveal a new evolutionary scenario where hairs, feathers, and scales of extant species are homologous structures inherited, with modification, from their shared reptilian ancestor's skin appendages already characterized by an anatomical placode and associated signaling molecules.
Fusion energy research has in the past 40 years focused primarily on the tokamak concept, but recent advances in plasma theory and computational power have led to renewed interest in stellarators. The largest and most sophisticated stellarator in the world, Wendelstein 7-X (W7-X), has just started operation, with the aim to show that the earlier weaknesses of this concept have been addressed successfully, and that the intrinsic advantages of the concept persist, also at plasma parameters approaching those of a future fusion power plant. Here we show the first physics results, obtained before plasma operation: that the carefully tailored topology of nested magnetic surfaces needed for good confinement is realized, and that the measured deviations are smaller than one part in 100,000. This is a significant step forward in stellarator research, since it shows that the complicated and delicate magnetic topology can be created and verified with the required accuracy.
Evans, Alistair R.; Daly, E. Susanne; Catlett, Kierstin K.; Paul, Kathleen S.; King, Stephen J.; Skinner, Matthew M.; Nesse, Hans P.; Hublin, Jean-Jacques; Townsend, Grant C.; Schwartz, Gary T.; Jernvall, Jukka
The variation in molar tooth size in humans and our closest relatives (hominins) has strongly influenced our view of human evolution. The reduction in overall size and disproportionate decrease in third molar size have been noted for over a century, and have been attributed to reduced selection for large dentitions owing to changes in diet or the acquisition of cooking. The systematic pattern of size variation along the tooth row has been described as a 'morphogenetic gradient' in mammal, and more specifically hominin, teeth since Butler and Dahlberg. However, the underlying controls of tooth size have not been well understood, with hypotheses ranging from morphogenetic fields to the clone theory. In this study we address the following question: are there rules that govern how hominin tooth size evolves? Here we propose that the inhibitory cascade, an activator-inhibitor mechanism that affects relative tooth size in mammals, produces the default pattern of tooth sizes for all lower primary postcanine teeth (deciduous premolars and permanent molars) in hominins. This configuration is also equivalent to a morphogenetic gradient, finally pointing to a mechanism that can generate this gradient. The pattern of tooth size remains constant with absolute size in australopiths (including Ardipithecus, Australopithecus and Paranthropus). However, in species of Homo, including modern humans, there is a tight link between tooth proportions and absolute size such that a single developmental parameter can explain both the relative and absolute sizes of primary postcanine teeth. On the basis of the relationship of inhibitory cascade patterning with size, we can use the size at one tooth position to predict the sizes of the remaining four primary postcanine teeth in the row for hominins. Our study provides a development-based expectation to examine the evolution of the unique proportions of human teeth.
Adam, R.; Ade, P. A. R.; Aghanim, N.; Arnaud, M.; Aumont, J.; Baccigalupi, C.; Banday, A. J.; Barreiro, R. B.; Bartlett, J. G.; Bartolo, N.; Battaner, E.; Benabed, K.; Benoit-Levy, A.; Bernard, J. -P.; Bersanelli, M.; Bielewicz, P.; Bonaldi, A.; Bonavera, L.; Bond, J. R.; Borrill, J.