Twenty-two Brevibacterium linens strains isolated from 'Pecorino di Filiano' cheese ripened in two different environments (natural cave and storeroom) were characterized and differentiated for features of technological interest and by genotypic methods, in order to select strains with specific features to be used as surface starter cultures. Results showed significant differences among strains on the basis of physiological and technological features, indicating heterogeneity within the species. A middle-low level of proteolytic activity was observed in 27.3 % of strains, while a small group (9.1 %) showed a high ability. Lipolytic activity was observed at three different temperatures and the highest value was detected at 20 °C with 13.6 % of strains, while an increase in temperature produced a slightly lower lipolysis in all strains. The evaluation of diacetyl production revealed that only 22.8 % of strains showed this ability, and most of them were isolated from product ripened in the natural cave. All strains exhibited only leu-aminopeptidase activity, with values more elevated in strains coming from the natural cave product. The combined analysis of genotypic results with the data obtained by the features of technological interest study established that the random amplified polymorphic DNA (RAPD) clusters obtained were composed not only of different genotypes but of different profiles based on technological properties too. This study demonstrated the importance of the ripening environment that affects the typical features of the artisanal product, leading to the selection of a specific surface microflora. Characterized strains could be associated within surface starters to standardize the production process of cheese, but preserving its typical organoleptic and sensory characteristics and improving the quality of the final product.

• MeSH
• bakteriální proteiny metabolismus   MeSH
• Brevibacterium enzymologie   genetika   izolace a purifikace   metabolismus   MeSH
• fermentace MeSH
• genotyp MeSH
• mikrobiologie životního prostředí MeSH
• mléko mikrobiologie   MeSH
• potravinářská mikrobiologie * přístrojové vybavení   metody   MeSH
• skot MeSH
• sýr mikrobiologie   MeSH
• životní prostředí MeSH
• zvířata MeSH
• Check Tag
• skot MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

In this study, we compared different total protein extraction protocols to achieve highly efficient isolation and purification of total proteins for the specific protein profiling of Oenococcus oeni. The sodium dodecyl sulfate-polyacrylamide gel electrophoresis patterns obtained for the different extraction protocols revealed not only a qualitative similar protein pattern but also quantitative variations with different intensity bands depending on the extraction method used. The selected extraction method added with sonication proved to work extremely well and efficiently and was able to obtain a high-resolution 2-D electrophoresis (2-DE) map. Prominent spots were successfully identified by matrix-assisted laser desorption-ionization time-of-flight mass spectrometry and corresponded to 76 different proteins involved in the main metabolic pathways. The approach allowed to achieve a protein profiling specific for O. oeni from Aglianico wine with numerous characterized protein products corresponding to many different O. oeni genes and associated with main cellular pathways. Further investigations of the 2-DE protein expression profile will provide useful and interesting information on the molecular mechanisms at the protein level responsible for growth and survival of O. oeni in wine.

• MeSH
• 2D gelová elektroforéza MeSH
• bakteriální proteiny analýza   izolace a purifikace   MeSH
• elektroforéza v polyakrylamidovém gelu MeSH
• molekulární biologie metody   MeSH
• Oenococcus chemie   izolace a purifikace   MeSH
• spektrometrie hmotnostní - ionizace laserem za účasti matrice MeSH
• víno mikrobiologie   MeSH
• Publikační typ
• časopisecké články MeSH

The aim of this study was a reliable intra-species discrimination and strain biodiversity in Oenococcus oeni populations of two different Aglianico wineries by molecular, biochemical, and physiological characterization. Pulsed field gel electrophoresis (PFGE) analysis revealed a high polymorphism related to the origin (winery) of strains, while differential display PCR (DD-PCR) allowed a further discrimination of strains from the same winery. Moreover, the heterogeneity of these natural populations was investigated by capillary electrophoresis and enzymatic assays. A variability related to a different surface charge distribution was observed among strains, linked to their origin. Malolactic activity study evidenced strain-specific differences in malic acid degradation, and then, only the presence of L(-)-malic acid in the medium induced the mle gene. This study provided evidences on the importance of intra-species biodiversity of malolactic bacterial populations in wine ecosystems, as each wine possess peculiar winemaking conditions and physical-chemical properties which make specific the bacterial survival and growth. This study highlighted a great biodiversity among O. oeni strains that can be also winery specific. Such biodiversity within a certain winery and winemaking area is important for selecting malolactic starters, and strain-specific trait identification is especially important to match individual strains to specific industrial process.

• MeSH
• biodiverzita * MeSH
• maláty metabolismus   MeSH
• molekulární typizace MeSH
• Oenococcus klasifikace   genetika   izolace a purifikace   fyziologie   MeSH
• polymorfismus genetický * MeSH
• víno mikrobiologie   MeSH
• Publikační typ
• časopisecké články MeSH

Thousands of non-coding variants have been associated with increased risk of human diseases, yet the causal variants and their mechanisms-of-action remain obscure. In an integrative study combining massively parallel reporter assays (MPRA), expression analyses (eQTL, meQTL, PCHiC) and chromatin accessibility analyses in primary cells (caQTL), we investigate 1,039 variants associated with multiple myeloma (MM). We demonstrate that MM susceptibility is mediated by gene-regulatory changes in plasma cells and B-cells, and identify putative causal variants at six risk loci (SMARCD3, WAC, ELL2, CDCA7L, CEP120, and PREX1). Notably, three of these variants co-localize with significant plasma cell caQTLs, signaling the presence of causal activity at these precise genomic positions in an endogenous chromosomal context in vivo. Our results provide a systematic functional dissection of risk loci for a hematologic malignancy.

• MeSH
• adaptorové proteiny signální transdukční genetika   imunologie   MeSH
• B-lymfocyty imunologie   patologie   MeSH
• chromatin chemie   imunologie   MeSH
• chromozomální proteiny, nehistonové genetika   imunologie   MeSH
• genetická predispozice k nemoci * MeSH
• hodnocení rizik MeSH
• intergenová DNA genetika   imunologie   MeSH
• lidé MeSH
• lokus kvantitativního znaku MeSH
• mnohočetný myelom farmakoterapie   genetika   imunologie   patologie   MeSH
• nádorové proteiny genetika   imunologie   MeSH
• plazmatické buňky imunologie   patologie   MeSH
• polymorfismus genetický MeSH
• primární buněčná kultura MeSH
• proteiny buněčného cyklu genetika   imunologie   MeSH
• protokoly protinádorové kombinované chemoterapie MeSH
• regulace genové exprese u nádorů MeSH
• represorové proteiny genetika   imunologie   MeSH
• sekvence nukleotidů MeSH
• transkripční elongační faktory genetika   imunologie   MeSH
• typy dědičnosti MeSH
• výměnné faktory guaninnukleotidů genetika   imunologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH

• Publikační typ
• tisková chyba MeSH

Multiple myeloma (MM) is an incurable malignancy of plasma cells. Epidemiological studies indicate a substantial heritable component, but the underlying mechanisms remain unclear. Here, in a genome-wide association study totaling 10,906 cases and 366,221 controls, we identify 35 MM risk loci, 12 of which are novel. Through functional fine-mapping and Mendelian randomization, we uncover two causal mechanisms for inherited MM risk: longer telomeres; and elevated levels of B-cell maturation antigen (BCMA) and interleukin-5 receptor alpha (IL5RA) in plasma. The largest increase in BCMA and IL5RA levels is mediated by the risk variant rs34562254-A at TNFRSF13B. While individuals with loss-of-function variants in TNFRSF13B develop B-cell immunodeficiency, rs34562254-A exerts a gain-of-function effect, increasing MM risk through amplified B-cell responses. Our results represent an analysis of genetic MM predisposition, highlighting causal mechanisms contributing to MM development.

• MeSH
• B-lymfocyty imunologie   metabolismus   MeSH
• celogenomová asociační studie * MeSH
• genetická predispozice k nemoci * MeSH
• jednonukleotidový polymorfismus * MeSH
• lidé MeSH
• maturační antigen B-buněk * genetika   MeSH
• mendelovská randomizace MeSH
• mnohočetný myelom * genetika   MeSH
• receptor TACI genetika   MeSH
• studie případů a kontrol MeSH
• telomery genetika   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH