Antinutritional factors, mineral composition and functional properties of dry fractionated flours as influenced by the type of pulse

Coarse (CF) and Fine (FF) fractions were obtained by dry fractionation (air classification) of raw micronized flour (RM) of kabuli chickpea, green pea, yellow and red lentil. Pea showed the highest phytate content in RM and CF. Stachyose was the main oligosaccharide in lentils, exceeding 50 mg g-1, whereas raffinose (39.9 mg g-1) was abundant in chickpea. Antinutritional factors were significantly enriched in FF, whereas decreased in CF. Total reflection X-ray fluorescence identified potassium as the main macronutrient in pulses. Ca was highly variable, ranging from 0.92 to 0.28 g kg-1 in pea and yellow lentil, respectively. A significant shift of minerals was observed in FF, but despite the highest phytate content, phytate:Zn ratio of lentils was lower than RM, indicating that Zn was enriched more than phytates. Yellow lentil and pea FF showed a protein content higher than 55 g 100g-1. Dry fractionation significantly affected the physicochemical properties, indicating different potential use of fractions

ENSO effects on primary productivity in Southern Atacama desert

International audienceIn the winter-rain southern Atacama Desert of the Coquimbo Region of Chile, El Niño - Southern Oscillation (ENSO) events modulate primary productivity. In this region, there are important changes in water availability between La Niña (dry) and El Niño (rainy) years. Using inter-annual comparisons of LANDSAT images from 30° to 31° S latitude, we observed changes in primary productivity between dry and rainy years at the regional level. There were also significant, negative correlations between productivity and elevation, with changes occurring first at low elevation during rainy years. The limiting factors to dryland vegetation primary productivity is different in regard to elevation. Rain during an El Niño year is the main factor that explains the increase in primary productivity at low elevation, while lower temperatures reduce and delay the net primary productivity at mid elevation

Bioactive potential of minor italian olive genotypes from apulia, sardinia and abruzzo

This research focuses on the exploration, recovery and valorization of some minor Italian olive cultivars, about which little information is currently available. Autochthonous and unexplored germplasm has the potential to face unforeseen changes and thus to improve the sustainability of the whole olive system. A pattern of nine minor genotypes cultivated in three Italian regions has been molecularly fingerprinted with 12 nuclear microsatellites (SSRs), that were able to unequivocally identify all genotypes. Moreover, some of the principal phenolic compounds were determined and quantified in monovarietal oils and the expression levels of related genes were also investigated at different fruit developmental stages. Genotypes differed to the greatest extent in the content of oleacein (3,4-DHPEA-EDA) and total phenols. Thereby, minor local genotypes, characterized by stable production and resilience in a low-input agro-system, can provide a remarkable contribution to the improvement of the Italian olive production chain and can become very profitable from a socio-economic point of view

TRIM50 regulates Beclin 1 proautophagic activity

Autophagy is a catabolic process needed for maintaining cell viability and homeostasis in response to numerous stress conditions. Emerging evidence indicates that the ubiquitin system has a major role in this process. TRIMs, an E3 ligase protein family, contribute to selective autophagy acting as receptors and regulators of the autophagy proteins recognizing endogenous or exogenous targets through intermediary autophagic tags, such as ubiquitin. Here we report that TRIM50 fosters the initiation phase of starvation-induced autophagy and associates with Beclin1, a central component of autophagy initiation complex. We show that TRIM50, via the RING domain, ubiquitinates Beclin 1 in a K63-dependent manner enhancing its binding with ULK1 and autophagy activity. Finally, we found that the Lys-372 residue of TRIM50, critical for its own acetylation, is necessary for its E3 ligase activity that governs Beclin1 ubiquitination. Our study expands the roles of TRIMs in regulating selective autophagy, revealing an acetylation-ubiquitination dependent control for autophagy modulation. © 2018 Elsevier B.V

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as \u201cwriter\u201d of the epigenetic machinery. Mutations in KMT2A were first reported in Wiedemann\u2013Steiner syndrome (WDSTS). More recently, KMT2A variants have been described in probands with a specific clinical diagnosis comprised in the so-called chromatinopathies. Such conditions, including WDSTS, are a group of overlapping disorders caused by mutations in genes coding for the epigenetic machinery. Among them, Rubinstein\u2013Taybi syndrome (RSTS) is mainly caused by heterozygous pathogenic variants in CREBBP or EP300. In this work, we used next generation sequencing (either by custom-made panel or by whole exome) to identify alternative causative genes in individuals with a RSTS-like phenotype negative to CREBBP and EP300 mutational screening. In six patients we identified different novel unreported variants in KMT2A gene. The identified variants are de novo in at least four out of six tested individuals and all of them display some typical RSTS phenotypic features but also WDSTS specific signs. This study reinforces the concept that germline variants affecting the epigenetic machinery lead to a shared molecular effect (alteration of the chromatin state) determining superimposable clinical conditions

A synthesis of ENSO effects on drylands in Australia, North America and South America

Fundamentally, El Niño Southern Oscillation (ENSO) is a climatic and oceanographic phenomenon, but it has profound effects on terrestrial ecosystems. Although the ecological effects of ENSO are becoming increasingly known from a wide range of terrestrial ecosystems (Holmgren et al., 2001), their impacts have been more intensively studied in arid and semiarid systems. In this brief communication, we summarize the main conclusions of a recent symposium on the effects of ENSO in these ecosystems, which was convened as part of the First Alexander von Humboldt International Conference on the El Niño Phenomenon and its Global Impact, in Guayaquil, Ecuador, from 16–20 May 2005. Participants in the symposium shared results and perspectives from research conducted in North and South America and Australia, regions where the ecological effects of ENSO have been studied in depth. Although the reports covered a wide array of organisms and ecological systems (Fig. 1), a recurring theme was the strong increase in rainfall associated with ENSO events in dry ecosystems (during the El Niño phase of the oscillation in the Americas and the La Niña phase in Australia). Because inter-annual variability in precipitation is such a strong determinant of productivity in arid and semiarid ecosystems, increased ENSO rainfall is crucial for plant recruitment, productivity and diversity in these ecosystems. Several long-term studies show that this pulse in primary productivity causes a subsequent increase in herbivores, followed by an increase in carnivores, with consequences for changes in ecosystem structure and functioning that can be quite complex

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Purpose: To investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). Methods: Multiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of 54 amino acids flanked by Val3527 and Lys3583, were identified and phenotyped. Functional tests were performed to study their pathogenicity and understand the disease mechanism. Results: The consistent clinical features of the affected individuals, from seven unrelated families, included choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability. The frequency of clinical features, objective software-based facial analysis metrics, and genome-wide peripheral blood DNA methylation patterns in these patients were significantly different from that of KS1. Circular dichroism spectroscopy indicated that these MVs perturb KMT2D secondary structure through an increased disordered to ɑ-helical transition. Conclusion: KMT2D MVs located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from KS1. Unlike KMT2D haploinsufficiency in KS1, these MVs likely result in disease through a dominant negative mechanism.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.16-17/10/Newlife - The Charity for Disabled Children FS/13/32/30069/BHF_/British Heart Foundation/United Kingdom 72160007/Chile's National Commission for Scientific and Technological Research MR/K011154/1/MRC_/Medical Research Council/United Kingdom WT_/Wellcome Trust/United Kingdompre-prin

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes. We demonstrate increasing resolution and specificity ranging from protein complex, gene, sub-gene, protein domain, and even single nucleotide-level Mendelian episignatures. We show the power of multiclass modeling to develop highly accurate and disease-specific diagnostic classifiers. This study significantly expands the number and spectrum of disorders with detectable DNA methylation episignatures, improves the clinical diagnostic capabilities through the resolution of unsolved cases and the reclassification of variants of unknown clinical significance, and provides further insight into the molecular etiology of Mendelian conditions

Molecular analysis of enrichment cultures of ammonia oxidizers from the Salar de Huasco, a high altitude saline wetland in northern Chile

We analyzed enrichment cultures of ammonia-oxidizing bacteria (AOB) collected from different areas of Salar de Huasco, a high altitude, saline, pH-neutral water body in the Chilean Altiplano. Samples were inoculated into mineral media with 10 mM NH4+ at five different salt concentrations (10, 200, 400, 800 and 1,400 mM NaCl). Low diversity (up to three phylotypes per enrichment) of beta-AOB was detected using 16S rDNA and amoA clone libraries. Growth of beta-AOB was only recorded in a few enrichment cultures and varied according to site or media salinity. In total, five 16S rDNA and amoA phylotypes were found which were related to Nitrosomonas europaea/Nitrosococcus mobilis, N. marina and N. communis clusters. Phylotype 1-16S was 97% similar with N. halophila, previously isolated from Mongolian soda lakes, and phylotypes from amoA sequences were similar with yet uncultured beta-AOB from different biofilms. Sequences related to N. halophila were frequently found at all salinities. Neither gamma-AOB nor ammonia-oxidizing Archaea were recorded in these enrichment cultures