60 research outputs found

    Identity and parentage of two alpine grape cultivars from Switzerland (Vitis vinifera L. Lafnetscha and Himbertscha)

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    Four closely related white grape cultivars from the Western Alps (Switzerland) - Humagne Blanc, Completer, Lafnetscha and Himbertscha - and three putative relatives or synonyms - Gouais Blanc, Plantscher and Bordeaux Blanc - were analyzed with up to 50 microsatellite markers. Humagne Blanc and Completer are ancient cultivars from the Haut-Valais and Graubünden regions, respectively. Lafnetscha and Himbertscha are lesser-known cultivars scarcely cultivated in Haut-Valais. Lafnetscha is frequently considered as synonym of Completer. Himbertscha might be related to Gouais Blanc, one of the parents of Chardonnay, Gamay, etc. Plantscher, a putative synonym of Lafnetscha, is scarcely cultivated in Haut-Valais (Switzerland) and Bordeaux Blanc (or Gros Bourgogne) is a cultivar of unknown origin (despite its names) cultivated in Switzerland. Our results allowed us to determine the true-to-type Lafnetscha and confirmed that Lafnetscha is not a synonym of Completer. Plantscher is not a synonym of Lafnetscha but a synonym of Bordeaux Blanc (or Gros Bourgogne) and is a likely parent or progeny of the Hungarian Furmint. Himbertscha is not related to Gouais Blanc and shares at least one allele at each locus with Humagne Blanc, providing strong evidence of a parent/progeny relationship. Given that Humagne Blanc is an older cultivar, we propose that it is the parent of Himbertscha. Alleles at 49 out of 50 microsatellite loci are consistent with Lafnetscha being the progeny of Completer and Humagne Blanc. The exception is a 10-base pair discrepancy at one locus (VVMD 36), most likely due to the occurrence of a null allele, since this parentage is supported at other markers by very high likelihood ratios. With Lafnetscha = Completer x Humagne Blanc, we present the second grape cultivar parentage showing a multiple repeat discrepancy at one locus. This study emphasizes that one multiple repeat unit discrepancy is not sufficient to reject a parentage, and that the greater is the number of loci, the greater are the chances to encounter null alleles or clonal mutations

    Antibiotic Transport in Resistant Bacteria: Synchrotron UV Fluorescence Microscopy to Determine Antibiotic Accumulation with Single Cell Resolution

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    A molecular definition of the mechanism conferring bacterial multidrug resistance is clinically crucial and today methods for quantitative determination of the uptake of antimicrobial agents with single cell resolution are missing. Using the naturally occurring fluorescence of antibacterial agents after deep ultraviolet (DUV) excitation, we developed a method to non-invasively monitor the quinolones uptake in single bacteria. Our approach is based on a DUV fluorescence microscope coupled to a synchrotron beamline providing tuneable excitation from 200 to 600 nm. A full spectrum was acquired at each pixel of the image, to study the DUV excited fluorescence emitted from quinolones within single bacteria. Measuring spectra allowed us to separate the antibiotic fluorescence from the autofluorescence contribution. By performing spectroscopic analysis, the quantification of the antibiotic signal was possible. To our knowledge, this is the first time that the intracellular accumulation of a clinical antibitiotic could be determined and discussed in relation with the level of drug susceptibility for a multiresistant strain. This method is especially important to follow the behavior of quinolone molecules at individual cell level, to quantify the intracellular concentration of the antibiotic and develop new strategies to combat the dissemination of MDR-bacteria. In addition, this original approach also indicates the heterogeneity of bacterial population when the same strain is under environmental stress like antibiotic attack

    Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma

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    [Excerpt] Multiple myeloma (MM) is the third most common hematological malignancy, after Non-Hodgkin Lymphoma and Leukemia. MM is generally preceded by Monoclonal Gammopathy of Undetermined Significance (MGUS) [1], and epidemiological studies have identified older age, male gender, family history, and MGUS as risk factors for developing MM [2]. The somatic mutational landscape of sporadic MM has been increasingly investigated, aiming to identify recurrent genetic events involved in myelomagenesis. Whole exome and whole genome sequencing studies have shown that MM is a genetically heterogeneous disease that evolves through accumulation of both clonal and subclonal driver mutations [3] and identified recurrently somatically mutated genes, including KRAS, NRAS, FAM46C, TP53, DIS3, BRAF, TRAF3, CYLD, RB1 and PRDM1 [3,4,5]. Despite the fact that family-based studies have provided data consistent with an inherited genetic susceptibility to MM compatible with Mendelian transmission [6], the molecular basis of inherited MM predisposition is only partly understood. Genome-Wide Association (GWAS) studies have identified and validated 23 loci significantly associated with an increased risk of developing MM that explain ~16% of heritability [7] and only a subset of familial cases are thought to have a polygenic background [8]. Recent studies have identified rare germline variants predisposing to MM in KDM1A [9], ARID1A and USP45 [10], and the implementation of next-generation sequencing technology will allow the characterization of more such rare variants. [...]French National Cancer Institute (INCA) and the Fondation Française pour la Recherche contre le Myélome et les Gammapathies (FFMRG), the Intergroupe Francophone du Myélome (IFM), NCI R01 NCI CA167824 and a generous donation from Matthew Bell. This work was supported in part through the computational resources and staff expertise provided by Scientific Computing at the Icahn School of Medicine at Mount Sinai. Research reported in this paper was supported by the Office of Research Infrastructure of the National Institutes of Health under award number S10OD018522. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The authors thank the Association des Malades du Myélome Multiple (AF3M) for their continued support and participation. Where authors are identified as personnel of the International Agency for Research on Cancer / World Health Organization, the authors alone are responsible for the views expressed in this article and they do not necessarily represent the decisions, policy or views of the International Agency for Research on Cancer / World Health Organizatio

    An investigation of dynamic crack initiation in PMMA

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    The recently developed compact compression specimen (CCS) — H integral technique is applied to the characterization of the dynamic fracture toughness of PMMA under transient loading. The forces and displacements on the boundaries of a cracked CCS are applied and determined using a Kolsky apparatus. The path-independent H-integral is thus calculated by forming a convolution product between experimental and reference data. The evolution of both the mode I and mode II stress intensity factors is determined by solving linear convolution equations. Therefore, the history of the stress intensity factors is assessed from the onset of loading until early crack propagation detected by a fracture gage. Dynamic fracture toughness is taken as the value of the mode I stress intensity factor at fracture time. Experimental results compare well with previously reported values while extending the range of applied loading rates. The fracture toughness is observed to increase markedly with the stress intensity rate. This observation is discussed in the light of fractographic examination showing the existence of a characteristic rough zone directly ahead of the notch-tip of dynamically fractured specimens

    On mixed-mode dynamic crack initiation in brittle solids

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    Dynamic fracture toughness determination using the CCS technique : application to PMMA.

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    The influence of mode-mixity on dynamic failure mode transitions

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