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Sökning: WFRF:(Vennin Philippe)

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1.
  • Martrat, Griselda, et al. (författare)
  • Exploring the link between MORF4L1 and risk of breast cancer
  • 2011
  • Ingår i: Breast Cancer Research. - : Springer Science and Business Media LLC. - 1465-5411 .- 1465-542X. ; 13:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, P-trend = 0.45 and 0.05, P-2df = 0.51 and 0.14, respectively; and rs10519219, P-trend = 0.92 and 0.72, P-2df = 0.76 and 0.07, respectively. Conclusions: While the present study expands on the role of MRG15 in the control of genomic stability, weak associations cannot be ruled out for potential low-penetrance variants at MORF4L1 and BrCa risk among BRCA2 mutation carriers.
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2.
  • Maxwell, Christopher A., et al. (författare)
  • Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer
  • 2011
  • Ingår i: PLoS Biology. - : Public Library of Science (PLoS). - 1545-7885 .- 1544-9173. ; 9:11
  • Tidskriftsartikel (refereegranskat)abstract
    • Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation carriers, accumulation of stem and progenitor cells in normal breast tissue and increased risk of developing tumors of basal-like type suggest that BRCA1 regulates stem/progenitor cell proliferation and differentiation. However, the function of BRCA1 in this process and its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving BRCA1 and RHAMM that regulates apicobasal polarity and, when perturbed, may increase risk of breast cancer. Starting from complementary genetic analyses across families and populations, we identified common genetic variation at the low-penetrance susceptibility HMMR locus (encoding for RHAMM) that modifies breast cancer risk among BRCA1, but probably not BRCA2, mutation carriers: n = 7,584, weighted hazard ratio ((w)HR) = 1.09 (95% CI 1.02-1.16), p(trend) = 0.017; and n = 3,965, (w)HR = 1.04 (95% CI 0.94-1.16), p(trend) = 0.43; respectively. Subsequently, studies of MCF10A apicobasal polarization revealed a central role for BRCA1 and RHAMM, together with AURKA and TPX2, in essential reorganization of microtubules. Mechanistically, reorganization is facilitated by BRCA1 and impaired by AURKA, which is regulated by negative feedback involving RHAMM and TPX2. Taken together, our data provide fundamental insight into apicobasal polarization through BRCA1 function, which may explain the expanded cell subsets and characteristic tumor type accompanying BRCA1 mutation, while also linking this process to sporadic breast cancer through perturbation of HMMR/RHAMM.
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3.
  • Bourillot, Raphael, et al. (författare)
  • The Record of Environmental and Microbial Signatures in Ancient Microbialites : The Terminal Carbonate Complex from the Neogene Basins of Southeastern Spain
  • 2020
  • Ingår i: Minerals. - : MDPI AG. - 2075-163X. ; 10:3
  • Forskningsöversikt (refereegranskat)abstract
    • The Messinian microbialites of the Terminal Carbonate Complex (TCC) from the Neogene basins of southeastern Spain show both diversified morphologies and an excellent preservation of primary microbial microstructures. Their stratigraphic architecture, fabric (micro-, meso-, and macro-fabric), and mineralogical composition were investigated in eight localities from three sedimentary basins of southeastern Spain: The Sorbas and Bajo Segura basins and the Agua Amarga depression. Two recurrent microbialite associations were distinguished. Laterally linked low relief stromatolites predominated in Microbialite Association 1 (MA1), which probably formed in low energy lagoons or lakes with fluctuating normal marine to hypersaline water. The microfabrics of MA1 reflected the predominance of microbially induced/influenced precipitation of carbonates and locally (Ca)-Mg-Al silicates. Microbialite Association 2 (MA2) developed in high energy wave and tidal influenced foreshore to shoreface, in normal marine to hypersaline water. High-relief buildups surrounded by mobile sediment (e.g., ooids or pellets) dominated in this environment. MA2 microbialites showed a significant proportion of thrombolitic mesofabric. Grain-rich microfabrics indicated that trapping and binding played a significant role in their accretion, together with microbially induced/influenced carbonate precipitation. The stratigraphic distribution of MA1 and MA2 was strongly influenced by water level changes, the morphology and nature of the substratum, and exposure to waves. MA1 favorably developed in protected areas during third to fourth order early transgression and regression phases. MA2 mostly formed during the late transgressions and early regressions in high energy coastal areas, often corresponding to fossil coral reefs. Platform scale syn-sedimentary gypsum deformation and dissolution enhanced microbial carbonate production, microbialites being thicker and more extended in zones of maximum deformation/dissolution. Microbial microstructures (e.g., microbial peloids) and microfossils were preserved in the microbialites. Dolomite microspheres and filaments showed many morphological similarities with some of the cyanobacteria observed in modern open marine and hypersaline microbialites. Dolomite potentially replaced a metastable carbonate phase during early diagenesis, possibly in close relationship with extracellular polymeric substances (EPS) degradation. Double-layered microspheres locally showed an inner coating made of (Ca)-Mg-Al silicates and carbonates. This mineral coating could have formed around coccoid cyanobacteria and indicated an elevated pH in the upper part of the microbial mats and a potential dissolution of diatoms as a source of silica. Massive primary dolomite production in TCC microbialites may have resulted from enhanced sulfate reduction possibly linked to the dissolving gypsum that would have provided large amounts of sulfate-rich brines to microbial mats. Our results open new perspectives for the interpretation of ancient microbialites associated with major evaporite deposits, from microbe to carbonate platform scales.
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