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Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length
(2020)
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1 , PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease.
The photochemical ring-opening of 1,3-cyclohexadiene imaged by ultrafast electron diffraction
(2019)
The ultrafast photoinduced ring-opening of 1,3-cyclohexadiene constitutes a textbook example of electrocyclic reactions in organic chemistry and a model for photobiological reactions in vitamin D synthesis. Although the relaxation from the photoexcited electronic state during the ring-opening has been investigated in numerous studies, the accompanying changes in atomic distance have not been resolved. Here we present a direct and unambiguous observation of the ring-opening reaction path on the femtosecond timescale and subangstrom length scale using megaelectronvolt ultrafast electron diffraction. We followed the carbon-carbon bond dissociation and the structural opening of the 1,3-cyclohexadiene ring by the direct measurement of time-dependent changes in the distribution of interatomic distances. We observed a substantial acceleration of the ring-opening motion after internal conversion to the ground state due to a steepening of the electronic potential gradient towards the product minima. The ring-opening motion transforms into rotation of the terminal ethylene groups in the photoproduct 1,3,5-hexatriene on the subpicosecond timescale.
Following the Middle Permian (Capitanian) mass extinction there was a global ‘reef eclipse’, and this event had an important role in the Paleozoic-Mesozoic transition of reef ecosystems. Furthermore, the recovery pattern of reef ecosystems in the Wuchiapingian of South China, before the radiation of Changhsingian reefs, is poorly understood. Here, we present a detailed sedimentological account of the Tieqiao section, South China, which records the only known Wuchiapingian reef setting from South China. Six reef growing phases were identified within six transgressive-regressive cycles. The cycles represent changes of deposition in a shallow basin to a subtidal outer platform setting, and the reefal build-ups are recorded in the shallowest part of the cycles above wave base in the euphotic zone. Our results show that the initial reef recovery started from the shallowing up part of the 1st cycle, within the Clarkina leveni conodont zone, which is two conodont zones earlier than previously recognized. In addition, even though metazoans, such as sponges, do become important in the development of the reef bodies, they are not a major component until later in the Wuchiapingian in the 5th and 6th transgressive-regressive cycles. This suggests a delayed recovery of metazoan reef ecosystems following the Middle Permian extinction. Furthermore, even though sponges do become abundant within the reefs, it is the presence and growth of the encrusters Archaeolithoporella and Tubiphytes and abundance of microbial micrites that play an important role in stabilizing the reef structures that form topographic highs.
Apoptotic death of cells damaged by genotoxic stress requires regulatory input from surrounding tissues. The C. elegans scaffold protein KRI-1, ortholog of mammalian KRIT1/CCM1, permits DNA damage-induced apoptosis of cells in the germline by an unknown cell non-autonomous mechanism. We reveal that KRI-1 exists in a complex with CCM-2 in the intestine to negatively regulate the ERK-5/MAPK pathway. This allows the KLF-3 transcription factor to facilitate expression of the SLC39 zinc transporter gene zipt-2.3, which functions to sequester zinc in the intestine. Ablation of KRI-1 results in reduced zinc sequestration in the intestine, inhibition of IR-induced MPK-1/ERK1 activation, and apoptosis in the germline. Zinc localization is also perturbed in the vasculature of krit1(-/-) zebrafish, and SLC39 zinc transporters are mis-expressed in Cerebral Cavernous Malformations (CCM) patient tissues. This study provides new insights into the regulation of apoptosis by cross-tissue communication, and suggests a link between zinc localization and CCM disease.
Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length
(2020)
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1 , PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease.
A new species, Gastrochilus kadooriei, is described from Hong Kong. Notes are presented on its distribution, ecology and conservation status, and its distinguishing features are compared with those of allied taxa. Gastrochilus jeitouensis is reduced to the synonymy of G. distichus, and a lectotype is assigned for G. pseudodistichus. Gastrochilus fuscopunctatus is reinstated as an accepted species. Dichotomous keys to this taxonomically difficult group of morphologically similar species are presented.
Along the NE Pamir margin, flights of late Quaternary fluvial terraces span actively deforming fault-related folds. We present detailed results on two terraces dated using optically stimulated luminescence (OSL) and cosmogenic radionuclide Be-10 (CRN) techniques. Quartz OSL dating of two different grain sizes (4-11 mu m and 90-180 mu m) revealed the fine-grain quartz fraction may overestimate the terrace ages by up to a factor of ten. Two-mm, small-aliquot, coarse-grain quartz OSL ages, calculated using the minimum age model, yielded stratigraphically consistent ages within error and dated times of terrace deposition to similar to 9 and similar to 16 ka. We speculate that, in this arid environment, fine-grain samples can be transported and deposited in single, turbid, and (sometimes) night-time floods that prevent thorough bleaching and, thereby, can lead to relatively large residual OSL signals. In contrast, sand in the fluvial system is likely to have a much longer residence time during transport, thereby providing greater opportunities for thorough bleaching. CRN Be-10 depth profiles date the timing of terrace abandonment to similar to 8 and similar to 14 ka: ages that generally agree with the coarse-grain quartz OSL ages. Our new terrace age of similar to 13-14 ka is broadly consistent with other terraces in the region that indicate terrace deposition and subsequent abandonment occurred primarily during glacial-interglacial transitions, thereby suggesting a climatic control on the formation of these terraces on the margins of the Tarim Basin. Furthermore, tectonic shortening rates calculated from these deformed terraces range from similar to 1.2 to similar to 4.6 mm/a and, when combined with shortening rates from other structures in the region, illuminate the late Quaternary basinward migration of deformation to faults and folds along the Pamir-Tian Shan collisional interface.
Piggyback basins on the margins of growing orogens commonly serve as sensitive recorders of the onset of thrust deformation and changes in source areas. The Bieertuokuoyi piggyback basin, located in the hanging wall of the Pamir Frontal Thrust, provides an unambiguous record of the outward growth of the northeast Pamir margin in northwest China from the Miocene through the Quaternary. To reconstruct the deformation along the margin, we synthesized structural mapping, stratigraphy, magnetostratigraphy, and cosmogenic burial dating of basin fill and growth strata. The Bieertuokuoyi basin records the initiation of the Pamir Frontal Thrust and the Takegai Thrust similar to 5-6Ma, as well as clast provenance and paleocurrent changes resulting from the Pliocene-to-Recent uplift and exhumation of the Pamir to the south. Our results show that coeval deformation was accommodated on the major structures on the northeast Pamir margin throughout the Miocene to Recent. Furthermore, our data support a change in the regional kinematics around the Miocene-Pliocene boundary (similar to 5-6Ma). Rapid exhumation of NE Pamir extensional domes, coupled with cessation of the Kashgar-Yecheng Transfer System on the eastern margin of the Pamir, accelerated the outward propagation of the northeastern Pamir margin and the southward propagation of the Kashi-Atushi fold-and-thrust belt in the southern Tian Shan. This coeval deformation signifies the coupling of the Pamir and Tarim blocks and the transfer of shortening north to the Pamir frontal faults and across the quasi-rigid Tarim Basin to the southern Tian Shan Kashi-Atushi fold-and-thrust system.
The SISAL database
(2018)
Stable isotope records from speleothems provide information on past climate changes, most particularly information that can be used to reconstruct past changes in precipitation and atmospheric circulation. These records are increasingly being used to provide "out-of-sample" evaluations of isotope-enabled climate models. SISAL (Speleothem Isotope Synthesis and Analysis) is an international working group of the Past Global Changes (PAGES) project. The working group aims to provide a comprehensive compilation of speleothem isotope records for climate reconstruction and model evaluation. The SISAL database contains data for individual speleothems, grouped by cave system. Stable isotopes of oxygen and carbon (delta O-18, delta C-13) measurements are referenced by distance from the top or bottom of the speleothem. Additional tables provide information on dating, including information on the dates used to construct the original age model and sufficient information to assess the quality of each data set and to erect a standardized chronology across different speleothems. The metadata table provides location information, information on the full range of measurements carried out on each speleothem and information on the cave system that is relevant to the interpretation of the records, as well as citations for both publications and archived data.
Although quantitative isotope data from speleothems has been used to evaluate isotope-enabled model simulations, currently no consensus exists regarding the most appropriate methodology through which to achieve this. A number of modelling groups will be running isotope-enabled palaeoclimate simulations in the framework of the Coupled Model Intercomparison Project Phase 6, so it is timely to evaluate different approaches to using the speleothem data for data–model comparisons. Here, we illustrate this using 456 globally distributed speleothem δ18O records from an updated version of the Speleothem Isotopes Synthesis and Analysis (SISAL) database and palaeoclimate simulations generated using the ECHAM5-wiso isotope-enabled atmospheric circulation model. We show that the SISAL records reproduce the first-order spatial patterns of isotopic variability in the modern day, strongly supporting the application of this dataset for evaluating model-derived isotope variability into the past. However, the discontinuous nature of many speleothem records complicates the process of procuring large numbers of records if data–model comparisons are made using the traditional approach of comparing anomalies between a control period and a given palaeoclimate experiment. To circumvent this issue, we illustrate techniques through which the absolute isotope values during any time period could be used for model evaluation. Specifically, we show that speleothem isotope records allow an assessment of a model's ability to simulate spatial isotopic trends. Our analyses provide a protocol for using speleothem isotope data for model evaluation, including screening the observations to take into account the impact of speleothem mineralogy on δ18O values, the optimum period for the modern observational baseline and the selection of an appropriate time window for creating means of the isotope data for palaeo-time-slices.
Plasmon-driven dehalogenation of brominated purines has been recently explored as a model system to understand fundamental aspects of plasmon-assisted chemical reactions. Here, it is shown that divalent Ca2+ ions strongly bridge the adsorption of bromoadenine (Br-Ade) to Ag surfaces.
Such ion-mediated binding increases the molecule's adsorption energy leading to an overlap of the metal energy states and the molecular states, enabling the chemical interface damping (CID) of the plasmon modes of the Ag nanostructures (i.e., direct electron transfer from the metal to Br-Ade).
Consequently, the conversion of Br-Ade to adenine almost doubles following the addition of Ca2+.
These experimental results, supported by theoretical calculations of the local density of states of the Ag/Br-Ade complex, indicate a change of the charge transfer pathway driving the dehalogenation reaction, from Landau damping (in the lack of Ca2+ ions) to CID (after the addition of Ca2+).
The results show that the surface dynamics of chemical species (including water molecules) play an essential role in charge transfer at plasmonic interfaces and cannot be ignored. It is envisioned that these results will help in designing more efficient nanoreactors, harnessing the full potential of plasmon-assisted chemistry.
Large earthquakes initiate chains of surface processes that last much longer than the brief moments of strong shaking. Most moderate‐ and large‐magnitude earthquakes trigger landslides, ranging from small failures in the soil cover to massive, devastating rock avalanches. Some landslides dam rivers and impound lakes, which can collapse days to centuries later, and flood mountain valleys for hundreds of kilometers downstream. Landslide deposits on slopes can remobilize during heavy rainfall and evolve into debris flows. Cracks and fractures can form and widen on mountain crests and flanks, promoting increased frequency of landslides that lasts for decades. More gradual impacts involve the flushing of excess debris downstream by rivers, which can generate bank erosion and floodplain accretion as well as channel avulsions that affect flooding frequency, settlements, ecosystems, and infrastructure. Ultimately, earthquake sequences and their geomorphic consequences alter mountain landscapes over both human and geologic time scales. Two recent events have attracted intense research into earthquake‐induced landslides and their consequences: the magnitude M 7.6 Chi‐Chi, Taiwan earthquake of 1999, and the M 7.9 Wenchuan, China earthquake of 2008. Using data and insights from these and several other earthquakes, we analyze how such events initiate processes that change mountain landscapes, highlight research gaps, and suggest pathways toward a more complete understanding of the seismic effects on the Earth's surface.
Arctic and alpine aquatic ecosystems are changing rapidly under recent global warming, threatening water resources by diminishing trophic status and changing biotic composition. Macrophytes play a key role in the ecology of freshwaters and we need to improve our understanding of long-term macrophytes diversity and environmental change so far limited by the sporadic presence of macrofossils in sediments.
In our study, we applied metabarcoding using the trnL P6 loop marker to retrieve macrophyte richness and composition from 179 surface-sediment samples from arctic Siberian and alpine Chinese lakes and three representative lake cores.
The surface-sediment dataset suggests that macrophyte richness and composition are mostly affected by temperature and conductivity, with highest richness when mean July temperatures are higher than 12 degrees C and conductivity ranges between 40 and 400 mu S cm(-1). Compositional turnover during the Late Pleistocene/Holocene is minor in Siberian cores and characterized by a less rich, but stable emergent macrophyte community. Richness decreases during the Last Glacial Maximum and rises during wetter and warmer climate in the Late-glacial and Mid-Holocene.
In contrast, we detect a pronounced change from emergent to submerged taxa at 14 ka in the Tibetan alpine core, which can be explained by increasing temperature and conductivity due to glacial runoff and evaporation.
Our study provides evidence for the suitability of the trnL marker to recover modern and past macrophyte diversity and its applicability for the response of macrophyte diversity to lake-hydrochemical and climate variability predicting contrasting macrophyte changes in arctic and alpine lakes under intensified warming and human impact.
LegacyPollen 1.0
(2022)
Here we describe the LegacyPollen 1.0, a dataset of 2831 fossil pollen records with metadata, a harmonized taxonomy, and standardized chronologies.
A total of 1032 records originate from North America, 1075 from Europe, 488 from Asia, 150 from Latin America, 54 from Africa, and 32 from the Indo-Pacific.
The pollen data cover the late Quaternary (mostly the Holocene). The original 10 110 pollen taxa names (including variations in the notations) were harmonized to 1002 terrestrial taxa (including Cyperaceae), with woody taxa and major herbaceous taxa harmonized to genus level and other herbaceous taxa to family level.
The dataset is valuable for synthesis studies of, for example, taxa areal changes, vegetation dynamics, human impacts (e.g., deforestation), and climate change at global or continental scales.
The harmonized pollen and metadata as well as the harmonization table are available from PANGAEA (https://doi.org/10.1594/PANGAEA.929773; Herzschuh et al., 2021). R code for the harmonization is provided at Zenodo (https://doi.org/10.5281/zenodo.5910972; Herzschuh et al., 2022) so that datasets at a customized harmonization level can be easily established.
As the recent permafrost thawing of northern Asia proceeds due to anthropogenic climate change, precise and detailed palaeoecological records from past warm periods are essential to anticipate the extent of future permafrost variations. Here, based on the modern relationship between permafrost and vegetation (represented by pollen assemblages), we trained a Random Forest model using pollen and permafrost data and verified its reliability to reconstruct the history of permafrost in northern Asia during the Holocene. An early Holocene (12-8 cal ka BP) strong thawing trend, a middle-to-late Holocene (8-2 cal ka BP) relatively slow thawing trend, and a late Holocene freezing trend of permafrost in northern Asia are consistent with climatic proxies such as summer solar radiation and Northern Hemisphere temperature. The extensive distribution of permafrost in northern Asia inhibited the spread of evergreen coniferous trees during the early Holocene warming and might have decelerated the enhancement of the East Asian summer monsoon (EASM) by altering hydrological processes and albedo. Based on these findings, we suggest that studies of the EASM should consider more the state of permafrost and vegetation in northern Asia, which are often overlooked and may have a profound impact on climate change in this region.
Bacteria play key roles in the function and diversity of aquatic systems, but aside from study of specific bloom systems, little is known about the diversity or biogeography of bacteria associated with harmful cyanobacterial blooms (cyanoHABs). CyanoHAB species are known to shape bacterial community composition and to rely on functions provided by the associated bacteria, leading to the hypothesized cyanoHAB interactome, a coevolved community of synergistic and interacting bacteria species, each necessary for the success of the others. Here, we surveyed the microbiome associated with Microcystis aeruginosa during blooms in 12 lakes spanning four continents as an initial test of the hypothesized Microcystis interactome. We predicted that microbiome composition and functional potential would be similar across blooms globally. Our results, as revealed by 16S rRNA sequence similarity, indicate that M. aeruginosa is cosmopolitan in lakes across a 280 degrees longitudinal and 90 degrees latitudinal gradient. The microbiome communities were represented by a wide range of operational taxonomic units and relative abundances. Highly abundant taxa were more related and shared across most sites and did not vary with geographic distance, thus, like Microcystis, revealing no evidence for dispersal limitation. High phylogenetic relatedness, both within and across lakes, indicates that microbiome bacteria with similar functional potential were associated with all blooms. While Microcystis and the microbiome bacteria shared many genes, whole-community metagenomic analysis revealed a suite of biochemical pathways that could be considered complementary. Our results demonstrate a high degree of similarity across global Microcystis blooms, thereby providing initial support for the hypothesized Microcystis interactome.
Massive Open Online Courses (MOOCs) remarkably attracted global media attention, but the spotlight has been concentrated on a handful of English-language providers. While Coursera, edX, Udacity, and FutureLearn received most of the attention and scrutiny, an entirely new ecosystem of local MOOC providers was growing in parallel. This ecosystem is harder to study than the major players: they are spread around the world, have less staff devoted to maintaining research data, and operate in multiple languages with university and corporate regional partners. To better understand how online learning opportunities are expanding through this regional MOOC ecosystem, we created a research partnership among 15 different MOOC providers from nine countries. We gathered data from over eight million learners in six thousand MOOCs, and we conducted a large-scale survey with more than 10 thousand participants. From our analysis, we argue that these regional providers may be better positioned to meet the goals of expanding access to higher education in their regions than the better-known global providers. To make this claim we highlight three trends: first, regional providers attract a larger local population with more inclusive demographic profiles; second, students predominantly choose their courses based on topical interest, and regional providers do a better job at catering to those needs; and third, many students feel more at ease learning from institutions they already know and have references from. Our work raises the importance of local education in the global MOOC ecosystem, while calling for additional research and conversations across the diversity of MOOC providers.
Arctic coasts are vulnerable to the effects of climate change, including rising sea levels and the loss of permafrost, sea ice and glaciers. Assessing the influence of anthropogenic warming on Arctic coastal dynamics, however, is challenged by the limited availability of observational, oceanographic and environmental data. Yet, with the majority of permafrost coasts being erosive, coupled with projected intensification of erosion and flooding, understanding these changes is critical. In this Review, we describe the morphological diversity of Arctic coasts, discuss important drivers of coastal change, explain the specific sensitivity of Arctic coasts to climate change and provide an overview of pan-Arctic shoreline change and its multifaceted impacts. Arctic coastal changes impact the human environment by threatening coastal settlements, infrastructure, cultural sites and archaeological remains. Changing sediment fluxes also impact the natural environment through carbon, nutrient and pollutant release on a magnitude that remains difficult to predict. Increasing transdisciplinary and interdisciplinary collaboration efforts will build the foundation for identifying sustainable solutions and adaptation strategies to reduce future risks for those living on, working at and visiting the rapidly changing Arctic coast.