Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP

Introduction Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are closely related disorders, linked pathologically and g

TRY plant trait database – enhanced coverage and open access

Plant traits—the morphological, anatomical, physiological, biochemical and phenological characteristics of plants—determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait‐based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits—almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men.

Obstructive sleep apnea (OSA) is a common heritable disorder displaying marked sexual dimorphism in disease prevalence and progression. Previous genetic association studies have identified a few genetic loci associated with OSA and related quantitative traits, but they have only focused on single ethnic groups, and a large proportion of the heritability remains unexplained. The apnea-hypopnea index (AHI) is a commonly used quantitative measure characterizing OSA severity. Because OSA differs by sex, and the pathophysiology of obstructive events differ in rapid eye movement (REM) and non-REM (NREM) sleep, we hypothesized that additional genetic association signals would be identified by analyzing the NREM/REM-specific AHI and by conducting sex-specific analyses in multiethnic samples. We performed genome-wide association tests for up to 19,733 participants of African, Asian, European, and Hispanic/Latino American ancestry in 7 studies. We identified rs12936587 on chromosome 17 as a possible quantitative trait locus for NREM AHI in men (N = 6,737; P = 1.7 × 10 <sup>-8</sup> ) but not in women (P = 0.77). The association with NREM AHI was replicated in a physiological research study (N = 67; P = 0.047). This locus overlapping the RAI1 gene and encompassing genes PEMT1, SREBF1, and RASD1 was previously reported to be associated with coronary artery disease, lipid metabolism, and implicated in Potocki-Lupski syndrome and Smith-Magenis syndrome, which are characterized by abnormal sleep phenotypes. We also identified gene-by-sex interactions in suggestive association regions, suggesting that genetic variants for AHI appear to vary by sex, consistent with the clinical observations of strong sexual dimorphism

Simulating Forest Productivity and Surface-Atmosphere Carbon Exchange in the Boreas Study Region

A process-based, general ecosystem model (BI- OME--BGC) was used to simulate daily gross primary produc- tion, maintenance and heterotrophic respiration, net primary production and net ecosystem carbon exchange of boreal as- pen, jack pine and black spruce stands. Model simulations of daily net carbon exchange of the ecosystem (NEE) explained 51.7% (SE = 1.32 g C m−2 day−1) of the variance in daily NEE derived from stand eddy flux measurements of CO2 during 1994. Differences between measured and simulated results were attributed to several factors including difficulties associ- ated with measuring nighttime CO2 fluxes and model assump- tions of site homogeneity. However, comparisons between simulations and field data improved markedly at coarser time- scales. Model simulations explained 66.1% (SE = 0.97 g C m −2 day−1) of the variance in measured NEE when 5-day means of daily results were compared. Annual simulations of above- ground net primary production ranged from 0.6--2.4 Mg C ha−1 year−1 and were concurrent with results derived from tree increment core measurements and allometric equations. Model simulations showed that all of the sites were net sinks (0.1--4.1 Mg C ha −1 year −1) of atmospheric carbon for 1994. Older conifer stands showed narrow margins between uptake of carbon by net photosynthesis and carbon release through respiration. Younger stands were more productive than older stands, primarily because of lower maintenance respiration costs. However, all sites appeared to be less productive than temperate forests. Productivity simulations were strongly linked to stand morphology and site conditions. Old jack pine and aspen stands showed decreased productivity in response to simulated low soil water contents near the end of the 1994 growing season. Compared with the aspen stand, the jack pine stand appeared better adapted to conserve soil water through lower daily evapotranspiration losses but also exhibited a nar- rower margin between daily net photosynthesis and respira- tion. Stands subjected to water stress during the growing season may exist on the edge between being annual sources or sinks for atmospheric carbon