Evaluation of evapotranspiration methods for model validation in a semi-arid watershed in northern China

International audienceThis study evaluates the performance of four evapotranspiration methods (Priestley-Taylor, Penman-Monteith, Hargreaves and Makkink) of differing complexity in a semi-arid environment in north China. The results are compared to observed water vapour fluxes derived from eddy flux measurements. The analysis became necessary after discharge simulations using an automatically calibrated version of the Soil and Water Assessment Tool (SWAT) failed to reproduce runoff measurements. Although the study area receives most of the annual rainfall during the vegetation period, high temperatures can cause water scarcity. We investigate which evapotranspiration method is most suitable for this environment and whether the model performance of SWAT can be improved with the most adequate evapotranspiration method. The evapotranspiration models were tested in two consecutive years with different rainfall amounts. In general, the simple Hargreaves and Makkink equations outmatch the more complex Priestley-Taylor and Penman-Monteith methods, although their performance depended on water availability. Effects on the quality of SWAT runoff simulations, however, remained minor. Although evapotranspiration is an important process in the hydrology of this steppe environment, our analysis indicates that other driving factors still need to be identified to improve SWAT simulations

Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells

Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital profound deafness, vestibular areflexia and prepubertal retinitis pigmentosa. The first purpose of this study was to determine the pathologic nature of eighteen USH1 putative splicing variants found in our series and their effect in the splicing process by minigene assays. These variants were selected according to bioinformatic analysis. The second aim was to analyze the USH1 transcripts, obtained from nasal epithelial cells samples of our patients, in order to corroborate the observed effect of mutations by minigenes in patient’s tissues. The last objective was to evaluate the nasal ciliary beat frequency in patients with USH1 and compare it with control subjects. In silico analysis were performed using four bioinformatic programs: NNSplice, Human Splicing Finder, NetGene2 and Spliceview. Afterward, minigenes based on the pSPL3 vector were used to investigate the implication of selected changes in the mRNA processing. To observe the effect of mutations in the patient’s tissues, RNA was extracted from nasal epithelial cells and RT-PCR analyses were performed. Four MYO7A (c.470G>A, c.1342_1343delAG, c.5856G>A and c.3652G>A), three CDH23 (c.2289+1G>A, c.6049G>A and c.8722+1delG) and one PCDH15 (c.3717+2dupTT) variants were observed to affect the splicing process by minigene assays and/or transcripts analysis obtained from nasal cells. Based on our results, minigenes are a good approach to determine the implication of identified variants in the mRNA processing, and the analysis of RNA obtained from nasal epithelial cells is an alternative method to discriminate neutral Usher variants from those with a pathogenic effect on the splicing process. In addition, we could observe that the nasal ciliated epithelium of USH1 patients shows a lower ciliary beat frequency than control subjects

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. We screened a large cohort of patients comprising 89 independent cases and families with various subforms of RD applying different NGS platforms. While mutation screening in 50 cases was performed using a RD gene capture panel, 47 cases were analyzed using whole exome sequencing. One family was analyzed using whole genome sequencing. A detection rate of 61% was achieved including mutations in 34 known and two novel RD genes. A total of 69 distinct mutations were identified, including 39 novel mutations. Notably, genetic findings in several families were not consistent with the initial clinical diagnosis. Clinical reassessment resulted in refinement of the clinical diagnosis in some of these families and confirmed the broad clinical spectrum associated with mutations in RD genes

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in $\textit{CHM}$ in two males with choroideremia. We have also identified 19 genes not previously known to be associated with inherited retinal disease, which harbor biallelic predicted protein-truncating variants in unsolved cases. Whole-genome sequencing is an increasingly important comprehensive method with which to investigate the genetic causes of inherited retinal disease.This work was supported by The National Institute for Health Research England (NIHR) for the NIHR BioResource – Rare Diseases project (grant number RG65966). The Moorfields Eye Hospital cohort of patients and clinical and imaging data were ascertained and collected with the support of grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital, National Health Service Foundation Trust, and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, the Foundation Fighting Blindness (USA), and Retinitis Pigmentosa Fighting Blindness. M.M. is a recipient of an FFB Career Development Award. E.M. is supported by UCLH/UCL NIHR Biomedical Research Centre. F.L.R. and D.G. are supported by Cambridge NIHR Biomedical Research Centre

Insights into the water mean transit time in a high-elevation tropical ecosystem

This study focuses on the investigation of the mean transit time (MTT) of water and its spatial variability in a tropical high-elevation ecosystem (wet Andean páramo). The study site is the Zhurucay River Ecohydrological Observatory (7.53 km²) located in southern Ecuador. A lumped parameter model considering five transit time distribution (TTD) functions was used to estimate MTTs under steady-state conditions (i.e., baseflow MTT). We used a unique data set of the <i>δ</i>¹⁸O isotopic composition of rainfall and streamflow water samples collected for 3 years (May 2011 to May 2014) in a nested monitoring system of streams. Linear regression between MTT and landscape (soil and vegetation cover, geology, and topography) and hydrometric (runoff coefficient and specific discharge rates) variables was used to explore controls on MTT variability, as well as mean electrical conductivity (MEC) as a possible proxy for MTT. Results revealed that the exponential TTD function best describes the hydrology of the site, indicating a relatively simple transition from rainfall water to the streams through the organic horizon of the wet páramo soils. MTT of the streams is relatively short (0.15–0.73 years, 53–264 days). Regression analysis revealed a negative correlation between the catchment's average slope and MTT (<i>R</i>² =  0.78, <i>p</i> &lt; 0.05). MTT showed no significant correlation with hydrometric variables, whereas MEC increases with MTT (<i>R</i>² =  0.89, <i>p</i> &lt; 0.001). Overall, we conclude that (1) baseflow MTT confirms that the hydrology of the ecosystem is dominated by shallow subsurface flow; (2) the interplay between the high storage capacity of the wet páramo soils and the slope of the catchments provides the ecosystem with high regulation capacity; and (3) MEC is an efficient predictor of MTT variability in this system of catchments with relatively homogeneous geology

Microstructural study of the NbC to G-phase transformation in HP-Nb alloys

International audienc

Moving beyond heterogeneity and process complexity: A new vision for watershed hydrology

Field studies in watershed hydrology continue to characterize and catalogue the enormous heterogeneity and complexity of rainfall runoff processes in more and more watersheds, in different hydroclimatic regimes, and at different scales. Nevertheless, the ability to generalize these findings to ungauged regions remains out of reach. In spite of their apparent physical basis and complexity, the current generation of detailed models is process weak. Their representations of the internal states and process dynamics are still at odds with many experimental findings. In order to make continued progress in watershed hydrology and to bring greater coherence to the science, we need to move beyond the status quo of having to explicitly characterize or prescribe landscape heterogeneity in our (highly calibrated) models and in this way reproduce process complexity and instead explore the set of organizing principles that might underlie the heterogeneity and complexity. This commentary addresses a number of related new avenues for research in watershed science, including the use of comparative analysis, classification, optimality principles, and network theory, all with the intent of defining, understanding, and predicting watershed function and enunciating important watershed functional traits.Water ManagementCivil Engineering and Geoscience