The “central state” and the almighty Dollar

New methods to determine the titanium (Ti) mass-dependent isotope fractionation of solar system materials to high precision were developed by combining internally normalised Ti isotope data with double-spike analyses utilising a 47Ti-49Ti double spike. The procedure includes a three-stage ion-exchange separation procedure to isolate Ti from the sample matrix that provides high-purity Ti fractions that are necessary for high-precision Ti isotope analyses. Analyses of sample aliquots that were spiked before and after the ion-exchange separation procedure demonstrate that Ti isotope fractionation can be induced by the separation procedure. This outcome requires the addition of the double spike before the ion exchange separation procedure in order to accurately determine the natural mass-dependent Ti isotope fractionation of samples. Multiple double spike analyses of an Alfa Aesar Ti standard performed over eight months yielded a reproducibility (2σ standard deviation) of 0.033‰ for δ49/47Ti (differences in 49Ti/47Ti relative to the OL-Ti standard). Terrestrial sample analyses display a 2σ reproducibility of 0.018 to 0.031‰ for δ49/47Ti. Titanium isotope results for three terrestrial USGS magmatic reference samples (AGV-2, BHVO-2 and BCR-2) agree well with literature data and therefore demonstrate the accuracy and precision of the presented methodologies. Achondritic meteorites display an overall range of 0.75‰ for δ49/47Ti. The ungrouped achondrite NWA 7325 has a more positive composition by 0.64‰ for δ49/47Ti compared to all other investigated samples likely reflecting Ti isotope fractionation induced by magmatic differentiation associated with highly reducing conditions and potentially associated with oxide and plagioclase formation. In contrast, eucrites with δ49/47Ti of -0.020 ± 0.070 and -0.003 ± 0.033 and the first mass-dependent Ti isotope data for an acapulcoite (Dhofar 125; δ49/47Ti = 0.094 ± 0.033) show only limited magmatic Ti isotope fractionation. Chondrites also display a relatively restricted range of 0.085‰ for δ49/47Ti, including one calcium‑aluminum rich inclusion (CAI) from Allende and the first mass-dependent Ti isotope data for two Rumuruti chondrites (NWA 753 and NWA 755). Furthermore, the mass-dependent Ti isotope composition of chondrites overlaps with that of eucrites and the acapulcoite Dhofar 125 indicating that nebular processes induce only limited Ti isotope fractionation. Additionally, the Ti isotope data indicate that thermal metamorphism also produced marginal Ti isotope fractionation at the bulk sample scale for chondrites. Small mass-dependent Ti isotope variations between different bulk meteorite samples are also evident, which might reflect sample heterogeneity. Importantly, the mass-dependent Ti isotope composition of the Earth and Moon overlap with the composition of the investigated chondrites, eucrites and acapulcoites within the 2 standard deviation uncertainties

Parallel laboratory evolution and rational debugging reveal genomic plasticity to S. cerevisiae synthetic chromosome XIV defects

Synthetic chromosome engineering is a complex process due to the need to identify and repair growth defects and deal with combinatorial gene essentiality when rearranging chromosomes. To alleviate these issues, we have demonstrated novel approaches for repairing and rearranging synthetic Saccharomyces cerevisiae genomes. We have designed, constructed, and restored wild-type fitness to a synthetic 753,096-bp version of S. cerevisiae chromosome XIV as part of the Synthetic Yeast Genome project. In parallel to the use of rational engineering approaches to restore wild-type fitness, we used adaptive laboratory evolution to generate a general growth-defect-suppressor rearrangement in the form of increased TAR1 copy number. We also extended the utility of the synthetic chromosome recombination and modification by loxPsym-mediated evolution (SCRaMbLE) system by engineering synthetic-wild-type tetraploid hybrid strains that buffer against essential gene loss, highlighting the plasticity of the S. cerevisiae genome in the presence of rational and non-rational modifications. </p

The glaciers climate change initiative: Methods for creating glacier area, elevation change and velocity products

Glaciers and their changes through time are increasingly obtained from a wide range of satellite sensors. Due to the often remote location of glaciers in inaccessible and high-mountain terrain, satellite observations frequently provide the only available measurements. Furthermore, satellite data provide observations of glacier character- istics that are difficult to monitor using ground-based measurements, thus complementing the latter. In the Glaciers_cci project of the European Space Agency (ESA), three of these characteristics are investigated in detail: glacier area, elevation change and surface velocity. We use (a) data from optical sensors to derive glacier outlines, (b) digital elevation models from at least two points in time, (c) repeat altimetry for determining elevation changes, and (d) data from repeat optical and microwave sensors for calculating surface velocity. For the latter, the two sensor types provide complementary information in terms of spatio-temporal coverage. While (c) and (d) can be generated mostly automatically, (a) and (b) require the intervention of an analyst. Largely based on the results of various round robin experiments (multi-analyst benchmark studies) for each of the products, we suggest and describe the most suitable algorithms for product creation and provide recommendations concerning their practical implementation and the required post-processing. For some of the products (area, velocity) post-processing can influence product quality more than the main-processing algorithm

Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family

BACKGROUND: Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterized by progressive corneal opacity that starts in early childhood and ultimately progresses to blindness in early adulthood. The aim of this study was to identify the cause of MCD in a black South African family with two affected sisters. METHODS: A multigenerational South African Sotho-speaking family with type I MCD was studied using whole exome sequencing. Variant filtering to identify the MCD-causal mutation included the disease inheritance pattern, variant minor allele frequency and potential functional impact. RESULTS: Ophthalmologic evaluation of the cases revealed a typical MCD phenotype and none of the other family members were affected. An average of 127 713 variants per individual was identified following exome sequencing and approximately 1.2 % were not present in any of the investigated public databases. Variant filtering identified a homozygous E71Q mutation in CHST6, a known MCD-causing gene encoding corneal N-acetyl glucosamine-6-O-sulfotransferase. This E71Q mutation results in a non-conservative amino acid change in a highly conserved functional domain of the human CHST6 that is essential for enzyme activity. CONCLUSION: We identified a novel E71Q mutation in CHST6 as the MCD-causal mutation in a black South African family with type I MCD. This is the first description of MCD in a black Sub-Saharan African family and therefore contributes valuable insights into the genetic aetiology of this disease, while improving genetic counselling for this and potentially other MCD families. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12881-016-0308-0) contains supplementary material, which is available to authorized users

PufQ regulates porphyrin flux at the haem/bacteriochlorophyll branchpoint of tetrapyrrole biosynthesis via interactions with ferrochelatase

Facultative phototrophs such as Rhodobacter sphaeroides can switch between heterotrophic and photosynthetic growth. This transition is governed by oxygen tension and involves the large-scale production of bacteriochlorophyll, which shares a biosynthetic pathway with haem up to protoporphyrin IX. Here, the pathways diverge with the insertion of Fe(2+) or Mg(2+) into protoporphyrin by ferrochelatase or magnesium chelatase, respectively. Tight regulation of this branchpoint is essential, but the mechanisms for switching between respiratory and photosynthetic growth are poorly understood. We show that PufQ governs the haem/bacteriochlorophyll switch; pufQ is found within the oxygen-regulated pufQBALMX operon encoding the reaction centre-light harvesting photosystem complex. A pufQ deletion strain synthesises low levels of bacteriochlorophyll and accumulates the biosynthetic precursor coproporphyrinogen III; a suppressor mutant of this strain harbours a mutation in the hemH gene encoding ferrochelatase, substantially reducing ferrochelatase activity. FLAG-immunoprecipitation experiments retrieve a ferrochelatase-PufQ-carotenoid complex, proposed to regulate the haem/bacteriochlorophyll branchpoint by directing porphyrin flux towards bacteriochlorophyll production under oxygen-limiting conditions. The co-location of pufQ and the photosystem genes in the same operon ensures that switching of tetrapyrrole metabolism towards bacteriochlorophyll is coordinated with the production of reaction centre and light harvesting polypeptides. This article is protected by copyright. All rights reserved

Nephritic factors: An overview of classification, diagnostic tools and clinical associations

Nephritic factors comprise a heterogeneous group of autoantibodies against neoepitopes generated in the C3 and C5 convertases of the complement system, causing its dysregulation. Classification of these autoantibodies can be clustered according to their stabilization of different convertases either from the classical or alternative pathway. The first nephritic factor described with the capacity to stabilize C3 convertase of the alternative pathway was C3 nephritic factor (C3NeF). Another nephritic factor has been characterized by the ability to stabilize C5 convertase of the alternative pathway (C5NeF). In addition, there are autoantibodies against assembled C3/C5 convertase of the classical and lectin pathways (C4NeF). These autoantibodies have been mainly associated with kidney diseases, like C3 glomerulopathy and immune complex-associated-membranoproliferative glomerulonephritis. Other clinical situations where these autoantibodies have been observed include infections and autoimmune disorders such as systemic lupus erythematosus and acquired partial lipodystrophy. C3 hypocomplementemia is a common finding in all patients with nephritic factors. The methods to measure nephritic factors are not standardized, technically complex, and lack of an appropriate quality control. This review will be focused in the description of the mechanism of action of the three known nephritic factors (C3NeF, C4NeF, and C5NeF), and their association with human diseases. Moreover, we present an overview regarding the diagnostic tools for its detection, and the main therapeutic approach for the patients with nephritic factorsThis work was supported from Instituto de Salud Carlos III (ISCIII, Ministerio de Economía y Competitividad) and Fondos FEDER (PI15-00255 to ML-T and PI16-00723 to PS-C). ML-T). MO was supported by National Science Centre (Poland) grant 2015/18/M/NZ6/00334

The Magnitude of Global Marine Species Diversity

Background: The question of how many marine species exist is important because it provides a metric for how much we do and do not know about life in the oceans. We have compiled the first register of the marine species of the world and used this baseline to estimate how many more species, partitioned among all major eukaryotic groups, may be discovered. Results: There are ∼226,000 eukaryotic marine species described. More species were described in the past decade (∼20,000) than in any previous one. The number of authors describing new species has been increasing at a faster rate than the number of new species described in the past six decades. We report that there are ∼170,000 synonyms, that 58,000–72,000 species are collected but not yet described, and that 482,000–741,000 more species have yet to be sampled. Molecular methods may add tens of thousands of cryptic species. Thus, there may be 0.7–1.0 million marine species. Past rates of description of new species indicate there may be 0.5 ± 0.2 million marine species. On average 37% (median 31%) of species in over 100 recent field studies around the world might be new to science. Conclusions: Currently, between one-third and two-thirds of marine species may be undescribed, and previous estimates of there being well over one million marine species appear highly unlikely. More species than ever before are being described annually by an increasing number of authors. If the current trend continues, most species will be discovered this century