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To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
Reproducibility is a defining feature of science, but the extent to which it characterizes current research is unknown. We conducted replications of 100 experimental and correlational studies published in three psychology journals using high-powered designs and original materials when available. Replication effects were half the magnitude of original effects, representing a substantial decline. Ninety-seven percent of original studies had statistically significant results. Thirty-six percent of replications had statistically significant results; 47% of original effect sizes were in the 95% confidence interval of the replication effect size; 39% of effects were subjectively rated to have replicated the original result; and if no bias in original results is assumed, combining original and replication results left 68% with statistically significant effects. Correlational tests suggest that replication success was better predicted by the strength of original evidence than by characteristics of the original and replication teams.
During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.
Schlemaite, with the simplified formula (Cu,rectangle)(6)(Pb,Bi)Se-4, is a new mineral species from the Niederschlema-Alberoda vein-type uranium deposit at Hartenstein, Erzgebirge, Germany. It occurs as anhedral to subhedral grains with no obvious forms or twinning, in aggregates of up to several hundred mum across, with berzelianite, eucairite and clausthalite in a dolomite-ankerite matrix. Schlemaite is black with a black streak and opaque with a metallic luster. It is brittle with an uneven fracture and no observable cleavage. It has a mean VHN (25 g load) of 106 kg/mm(2), which roughly equates to a Mobs hardness of 3. In plane-polarized reflected light, schlemaite is grey, non- pleochroic with a very weak bireflectance. It has very weak anisotropy, with rotation tints in shades of very pale metallic orange and blue, and shows no internal reflections. Electron-microprobe analyses yielded a mean composition Cu 38.86, Ag 2.57, An 0.07, Hg 0.09, Pb 13.75, Bi 9.12, Se 35.11, total 99.57 wt.%. The empirical formula (based on 4 Se apfu) is (Cu5.50Ag0.21)(Sigma5.71)(Pb0.60Bi0.39)(Sigma0.99)Se-4. The calculated density is 7.54 g/cm(3) (based on the empirical formula and unit-cell parameters refined from single-crystal data). Schlemaite is monoclinic, P2(1)/m, a 9.5341(8), b 4.1004(3), c 10.2546(8) Angstrom, beta 100.066(2)degrees, V 394.72(9) Angstrom(3), a:b:c 2.3252:1:2.5009, Z = 2. The crystal structure of schlemaite was solved by direct methods and refined to an R index of 4.8% using 1303 unique reflections collected on a four-circle diffractometer equipped with a CCD detector. The structure consists of intercalated ordered and disordered layers. The ordered layer consists of ladders of Ph2+ + Bi3+ coordinated by Se, the former showing strong lone-pair-stereoactive effects, and a network of Cu+ coordinated by Se anions. The disordered layer consists of an array of sites partly occupied by Cu+ and Ag+ in a variety of coordinations, and is characterized by strong short-range order. The strongest seven lines of the X-ray powder-diffraction pattern [d in Angstrom(I)(hkl)] are: 3.189(100)(012), 3.132(100)(112), 2.601(70)(113), 2.505(50)(311), 2.151(60)(014), 2.058(80)(020) and 1.909(50)(314). Although schlemaite is chemically similar to furutobeite, (Cu,Ag)(6)PbS4, it is not isostructural with it. The mineral is named after the Schlema-Alberoda uranium ore field near Schneeberg in the ancient mining region of Saxony, Germany
The Siwalik sedimentary rocks of the Himalayan foreland basin preserve a record of Himalayan orogenesis, paleo-drainage evolution, and erosion. This study focuses on the still poorly studied easternmost Himalaya Siwalik record located directly downstream of the Namche Barwa syntaxis. We use luminescence, palaeomagnetism, magnetostratigraphy, and apatite fission-track dating to constrain the depositional ages of three Siwalik sequences: the Sibo outcrop (Upper Siwalik sediments at ca. 200-800 ka), the Remi section (Middle and Upper Siwalik rocks at >0.8-<8.8 +/- 2.4 Ma), and the Siang section (Middle Siwalik rocks at <9.3 +/- 1.5 to <13.5 +/- 1.5 Ma). Cretaceous-Paleogene detrital zircon and apatite U-Pb ages, characteristic of the Transhimalayan Gangdese Batholiths that crop out northwest of the syntaxis, are present throughout the Sibo, Remi, and Siang successions, confirming the existence of a Yarlung-Brahmaputra connection since at least the Late Miocene. A ca. 500 Ma zircon population increases up section, most strikingly sometime between 3.6 to 6.6 Ma, at the expense of Transhimalayan grains. We consider the ca. 500 Ma population to be derived from the Tethyan or Greater Himalaya, and we interpret the up-section increase to reflect progressive exhumation of the Namche Barwa syntaxis. Early Cretaceous zircon and apatite U-Pb ages are rare in the Sibo, Remi, and Siang successions, but abundant in modern Siang River sediments. Zircons of this age range are characteristic of the Transhimalayan Bomi-Chayu batholiths, which crop out east of the syntaxis and are eroded by the Parlung River, a modern tributary of the Siang River. We interpret the difference in relative abundance of Early Cretaceous zircons between the modern and ancient sediments to reflect capture of the Parlung by the Siang after 800 ka.
Phytoplankton biomass and production regulates key aspects of freshwater ecosystems yet its variability and subsequent predictability is poorly understood. We estimated within-lake variation in biomass using high-frequency chlorophyll fluorescence data from 18 globally distributed lakes. We tested how variation in fluorescence at monthly, daily, and hourly scales was related to high-frequency variability of wind, water temperature, and radiation within lakes as well as productivity and physical attributes among lakes. Within lakes, monthly variation dominated, but combined daily and hourly variation were equivalent to that expressed monthly. Among lakes, biomass variability increased with trophic status while, within-lake biomass variation increased with increasing variability in wind speed. Our results highlight the benefits of high-frequency chlorophyll monitoring and suggest that predicted changes associated with climate, as well as ongoing cultural eutrophication, are likely to substantially increase the temporal variability of algal biomass and thus the predictability of the services it provides.
Early onset and late acceleration of rapid exhumation in the Namche Barwa syntaxis, eastern Himalaya
(2020)
The Himalayan syntaxes, characterized by extreme rates of rock exhumation co-located with major trans-orogenic rivers, figure prominently in the debate on tectonic versus erosional forcing of exhumation. Both the mechanism and timing of rapid exhumation of the Namche Barwa massif in the eastern syntaxis remain controversial. It has been argued that coupling between crustal rock advection and surface erosion initiated in the late Miocene (8-10 Ma). Recent studies, in contrast, suggest a Quaternary onset of rapid exhumation linked to a purely tectonic mechanism. We report new multisystem detrital thermochronology data from the most proximal Neogene clastic sediments downstream of Namche Barwa and use a thermo-kinematic model constrained by new and published data to explore its exhumation history. Modeling results show that exhumation accelerated to similar to 4 km/m.y. at ca. 8 Ma and to similar to 9 km/m.y. after ca. 2 Ma. This three-stage history reconciles apparently contradictory evidence for early and late onset of rapid exhumation and suggests efficient coupling between tectonics and erosion since the late Miocene. Quaternary acceleration of exhumation is consistent with river-profile evolution and may be linked to a Quaternary river-capture event.
Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood(1). Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits(2). In an expanded genome-wide association metaanalysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism.
Current evidence suggests that all of the major events in hominin evolution have occurred in East Africa. Over the last two decades, there has been intensive work undertaken to understand African palaeoclimate and tectonics in order to put together a coherent picture of how the environment of East Africa has varied in the past. The landscape of East Africa has altered dramatically over the last 10 million years. It has changed from a relatively flat, homogenous region covered with mixed tropical forest, to a varied and heterogeneous environment, with mountains over 4 km high and vegetation ranging from desert to cloud forest. The progressive rifting of East Africa has also generated numerous lake basins, which are highly sensitive to changes in the local precipitation-evaporation regime. There is now evidence that the presence of precession-driven, ephemeral deep-water lakes in East Africa were concurrent with major events in hominin evolution. It seems the unusual geology and climate of East Africa created periods of highly variable local climate, which, it has been suggested could have driven hominin speciation, encephalisation and dispersal out of Africa. One example is the significant hominin speciation and brain expansion event at -1.8 Ma that seems to have been coeval with the occurrence of highly variable, extensive, deep-water lakes. This complex, climatically very variable setting inspired first the variability selection hypothesis, which was then the basis for the pulsed climate variability hypothesis. The newer of the two suggests that the long-term drying trend in East Africa was punctuated by episodes of short, alternating periods of extreme humidity and aridity. Both hypotheses, together with other key theories of climate-evolution linkages, are discussed in this paper. Though useful the actual evolution mechanisms, which led to early hominins are still unclear and continue to be debated. However, it is clear that an understanding of East African lakes and their palaeoclimate history is required to understand the context within which humans evolved and eventually left East Africa. (C) 2014 The Authors. Published by Elsevier Ltd.
New global maps of the five inner midsize icy saturnian satellites, Mimas, Enceladus, Tethys, Dione, and Rhea, have been constructed in three colors (UV, Green and near-IR) at resolutions of 1 km/pixel. The maps reveal prominent global patterns common to several of these satellites but also three major color features unique to specific satellites or satellite subgroups. The most common features among the group are first-order global asymmetries in color properties. This pattern, expressed on Tethys, Dione and Rhea, takes the form of a similar to 1.4-1.8 times enhancement in redness (expressed as IR/UV ratio) of the surface at the center of the trailing hemisphere of motion, and a similar though significantly weaker IR/UV enhancement at the center of the leading hemisphere. The peak in redness on the trailing hemisphere also corresponds to a known decrease in albedo. These double hemispheric asymmetries are attributable to plasma and E-ring grain bombardment on the trailing and leading hemispheres, respectively, for the outer three satellites Tethys, Dione and Rhea, whereas as E-ring bombardment may be focused on the trailing hemisphere of Mimas due to its orbital location interior to Enceladus. The maps also reveal three major deviations from these basic global patterns. We observe the previously known dark bluish leading hemisphere equatorial band on Tethys but have also discovered a similar band on Mimas. Similar in shape, both features match the surface patterns expected for irradiation of the surface by incident MeV electrons that drift in a direction opposite to the plasma flow. The global asymmetry on Enceladus is offset similar to 40 degrees to the west compared to the other satellites. We do not consider Enceladus in detail here, but the global distribution of bluish material can be shown to match the deposition pattern predicted for plume fallback onto the surface (Kempf, S., Beckmann, U., Schmidt, S. [2010]. Icarus 206, 446-457. doi:10.1016/j.icarus.2009.09.016). E-ring deposition on Enceladus thus appears to mask or prevent the formation of the lenses and hemispheric asymmetries we see on the other satellites. Finally, we observe a chain of discrete bluish splotches along the equator of Rhea. Unlike the equatorial bands of Tethys and Mimas, these splotches form a very narrow great circle <= 10-km wide (north-to-south) and appear to be related to surface disruption, exposing fresh, bluish ice on older crater rims. This feature is unique to Rhea and may have formed by impact onto its surface of orbiting material.