• MeSH
• diagnostické techniky molekulární MeSH
• nádory * diagnóza   genetika   MeSH
• stanovení celkové genové exprese MeSH

• Konspekt
• Biochemie. Molekulární biologie. Biofyzika
• NLK Obory
• molekulární biologie, molekulární medicína
• onkologie
• NLK Publikační typ
• kolektivní monografie

Clinical behavior of neuroblastoma (NBL) is remarkably heterogeneous, as it ranges from spontaneous regression to aggressive clinical phenotype and death. There is increasing body of evidence demonstrating that microRNAs could be considered the potential biomarkers for clinical applications in NBL. In this report, we focus on molecular characterization of high-risk as well as low-risk and intermediate-risk NBL cases in the context of the microRNA expression profile that is specific for the given risk category of the disease. We investigated a total of 30 NBL patients, out of whom there were 19 patients with low- to intermediate-risk and 11 with high-risk NBLs as defined by the Clinical Oncology Group. We determined the expression profiles of 754 microRNAs (miRNAs), whereas the miRNA expression levels were normalized to RNU44, mean expression levels were calculated, and data were analyzed by use of the microarray biostatistical approaches. We identified the signature of 38 miRNAs differentially expressed between these groups of NBL patients (P < 0.05): 17 miRNAs were upregulated and 21 miRNAs were downregulated in the tumors of high-risk NBL patients. We confirm some of the previous observations and we report several new microRNAs associated with aggressive NBL, both being relevant subjects for further translational validation and functional studies.

• MeSH
• kojenec MeSH
• lidé MeSH
• mikro RNA genetika   metabolismus   MeSH
• nádorové biomarkery genetika   MeSH
• neuroblastom genetika   MeSH
• prognóza MeSH
• regulace genové exprese u nádorů MeSH
• stanovení celkové genové exprese MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Proline at the second position of the N-terminus of biologically active peptides involved in cell growth regulation is an evolutionarily conserved motif protecting them against cleavage by non-specific proteases. Just a small number of proline-specific hydrolases including dipeptidyl peptidase IV (DPP-IV) and related molecules is capable of cleaving such post-prolyl bond. DPP-IV, originally described on the basis of its enzymatic activity, is a ubiquitous, multifunctional homodimeric plasma membrane glycoprotein of type II. Subsequently, several other molecules related to DPP-IV by their enzymatic activity and/or sequence were discovered and classified as “dipeptidyl peptidase IV activity and/or structure homologues” (DASH). Along with canonical DPP-IV this group comprises DPP-IVß, DPP-II, DPP6, DPP8, DPP9, DPP10 and fibroblast activation protein ? (FAP-?). Recent observations of deregulated expression of several DASH molecules in multiple human cancers led to the assumptions of their pathogenetic relevance in cancerogenesis. Here we review recent information about selected DASH molecules in human malignancies.

• MeSH
• dipeptidylpeptidasa 4 chemie   metabolismus   MeSH
• dipeptidylpeptidasy a tripeptidylpeptidasy metabolismus   MeSH
• financování organizované MeSH
• lidé MeSH
• membránové proteiny metabolismus   MeSH
• nádory enzymologie   metabolismus   MeSH
• regulace genové exprese u nádorů MeSH
• serinové endopeptidasy MeSH
• želatinasy metabolismus   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH

Účel studie: Základní imunofenotypové a genotypové podskupiny dětských akutních lymfoblastických leukémií (ALL) mají charakteristický expresní profil RNA. Homeodoménové (HOX) geny hrají důležitou roli v normální hematopoeze a jejich role se předpokládá i v patogenezi akutních leukémií. Zkoumali jsme, zda expresní vzorec 21 HOX genů ze skupiny HOXA, HOXB a CDX definuje vybrané imunofenotypové a genotypové skupiny dětských ALL. Srovnáním s expresí HOX genů ve fyziologických prekurzorech lymfoidních buněk jsme sledovali, zda exprese v maligních buňkách odráží jejich relativní zralost. Metody: Analyzovali jsme expresi HOX genů s použitím kvantitativní RT-PCR ve skupině dětských ALL a normálních prekurzorů lymfoidních buněk. K analýze dat jsme použili metodu hierarchického klastrování. Výsledky: Přestože exprese jednotlivých HOX genů se významně lišila mezi jednotlivými podskupinami dětských ALL (T-ALL, B prekurzorová ALL s fúzními geny TEL/AML1, BCR/ABL, MLL/AF4 a hyperdiploidií), celkový expresní vzorec nedefinoval spolehlivě jednotlivé podskupiny. Srovnání exprese jednotlivých HOX genů ve vývojových stadiích fyziologických lymfoidních buněk prokázalo, že jejich maligní protějšky exprimují HOX geny nezávisle na své relativní zralosti. Závěry: Leukemické buňky aberantně exprimují vybrané HOX geny. Stanovení expresního vzorce HOX genů však není vhodným prostředkem ke klasifikaci dětských leukémií. Vysoce exprimované HOX geny v jednotlivých skupinách mohou potenciálně sloužit jako cíle biologické léčby.

Objective: The main immunophenotype and genotype subgroups of the childhood acute lymphoblastic leukemias (ALL) have characteristic RNA expression profile. The homeodomain genes (HOX) play an important role in normal hemopoiesis and their role is presumed in pathogenesis of acute leukemias as well. The authors investigated, whether the expression profile of 21 HOX genes of the HOXA, HOXB and CDX group defines selected immunophenotype and genotype groups of children ALL. In comparison with the HOX gene expression in physiological precursors of lymphoid cells we followed whether the expression in malignant cells reflects their relative maturity. Methods: HOX gene expression was analyzed by using quantitative RT-PCR in the group of children ALL and normal precursors of lymphoid cells. Analysis of the data was made by the hierarchical clustering analysis. Results: In spite of the fact that expression of individual HOX genes differed significantly among individual groups of the children ALL (T-ALL, B precursor ALL with fusion genes TEL/AMLI, BCR/ABL, MLL/AF4 and hyperdiploid one), the total expression profile failed to define the individual subgroups reliably. The comparison of expression of individual HOX genes in the developmental stages of physiological lymphoid cells made it clear that their malignant counterparts express the HOX genes independently of their relative maturity. Conclusions: Leukemia cells express aberrantly selected HOX genes. However, the determination of expression profile of HOX genes is not a suitable remedy for classification of childhood leukemia. Highly expressed HOX genes in individual subgroups can potentially serve as targets of biological therapy.

• Klíčová slova
• HOX geny, homeodoménové geny,
• MeSH
• akutní lymfatická leukemie genetika   MeSH
• dítě MeSH
• exprese genu genetika   MeSH
• financování organizované MeSH
• homeoboxové geny genetika   MeSH
• lidé MeSH
• Check Tag
• dítě MeSH
• lidé MeSH

Pattern-recognition receptors (PRRs) recognize pathogen-associated molecular patterns and play an important role in triggering innate immune responses. PRRs distribution and function is well documented in mice and humans, but studies in pigs are scarce. Salmonella enterica serovar Typhimurium is common pathogen found in pigs and was used as a model for interaction with PRRs. This study investigated expression of PRRs in porcine leukocyte subpopulations at the mRNA level. Eight subpopulations of leukocytes comprising NK cells, Th, Tc, double positive T cells and γδ T cells, B cells, monocytes and neutrophils were sorted, and the expression of 12 PRRs was measured, including selected Toll-like receptors and their co-receptors, NOD-like receptor NOD2, RP-105, CD14, and dectin. The highest expression rates of most PRRs were observed in monocytes and neutrophils. The B cells expressed high levels of TLR1, TLR6, TLR9, TLR10, and RP-105. Only monocytes and γδ T cells were found to respond to Salmonella enterica serovar Typhimurium infection by intensification of PRRs expression. In Th and B cells, PRRs mRNA down-regulation was detected after infection.

• MeSH
• down regulace MeSH
• leukocyty metabolismus   mikrobiologie   MeSH
• messenger RNA genetika   MeSH
• neutrofily metabolismus   MeSH
• prasata MeSH
• přirozená imunita MeSH
• receptory rozpoznávající vzory genetika   metabolismus   MeSH
• regulace genové exprese imunologie   MeSH
• Salmonella typhimurium fyziologie   MeSH
• salmonelová infekce u zvířat imunologie   MeSH
• séroskupina MeSH
• T-lymfocyty metabolismus   MeSH
• toll-like receptory genetika   metabolismus   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• centrální nervový systém MeSH
• exprese genu MeSH
• Publikační typ
• periodika MeSH

• Konspekt
• Obecná genetika. Obecná cytogenetika. Evoluce
• NLK Obory
• genetika, lékařská genetika
• biologie

The oviduct provides an optimal environment for the final preparation, transport, and survival of gametes, the fertilization process, and early embryonic development. Most of the studies on reproduction are based on in vitro cell culture models because of the cell's accessibility. It creates opportunities to explore the complexity of directly linked processes between cells. Previous studies showed a significant expression of genes responsible for cell differentiation, maturation, and development during long-term porcine oviduct epithelial cells (POECs) in vitro culture. This study aimed at establishing the transcriptomic profile and comprehensive characteristics of porcine oviduct epithelial cell in vitro cultures, to compare changes in gene expression over time and deliver information about the expression pattern of genes highlighted in specific GO groups. The oviduct cells were collected after 7, 15, and 30 days of in vitro cultivation. The transcriptomic profile of gene expression was compared to the control group (cells collected after the first day). The expression of COL1A2 and LOX was enhanced, while FGFBP1, SERPINB2, and OVGP1 were downregulated at all selected intervals of cell culture in comparison to the 24-h control (p-value < 0.05). Adding new detailed information to the reproductive biology field about the diversified transcriptome profile in POECs may create new future possibilities in infertility treatments, including assisted reproductive technique (ART) programmes, and may be a valuable tool to investigate the potential role of oviduct cells in post-ovulation events.

• MeSH
• buněčné kultury metody   MeSH
• epitelové buňky * metabolismus   cytologie   MeSH
• kultivované buňky MeSH
• prasata MeSH
• regulace genové exprese MeSH
• stanovení celkové genové exprese MeSH
• transkriptom * MeSH
• vejcovody u zvířat metabolismus   cytologie   MeSH
• vejcovody metabolismus   cytologie   MeSH
• zvířata MeSH
• Check Tag
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: The blood flukes of genus Schistosoma are the causative agent of schistosomiasis, a parasitic disease that infects more than 200 million people worldwide. Proteases of schistosomes are involved in critical steps of host-parasite interactions and are promising therapeutic targets. We recently identified and characterized a group of S1 family Schistosoma mansoni serine proteases, including SmSP1 to SmSP5. Expression levels of some SmSPs in S. mansoni are low, and by standard genome sequencing technologies they are marginally detectable at the method threshold levels. Here, we report their spatial gene expression patterns in adult S. mansoni by the high-sensitivity localization assay. METHODOLOGY: Highly sensitive fluorescence in situ RNA hybridization (FISH) was modified and used for the localization of mRNAs encoding individual SmSP proteases (including low-expressed SmSPs) in tissues of adult worms. High sensitivity was obtained due to specifically prepared tissue and probes in combination with the employment of a signal amplification approach. The assay method was validated by detecting the expression patterns of a set of relevant reference genes including SmCB1, SmPOP, SmTSP-2, and Sm29 with localization formerly determined by other techniques. RESULTS: FISH analysis revealed interesting expression patterns of SmSPs distributed in multiple tissues of S. mansoni adults. The expression patterns of individual SmSPs were distinct but in part overlapping and were consistent with existing transcriptome sequencing data. The exception were genes with significantly low expression, which were also localized in tissues where they had not previously been detected by RNA sequencing methods. In general, SmSPs were found in various tissues including reproductive organs, parenchymal cells, esophagus, and the tegumental surface. CONCLUSIONS: The FISH-based assay provided spatial information about the expression of five SmSPs in adult S. mansoni females and males. This highly sensitive method allowed visualization of low-abundantly expressed genes that are below the detection limits of standard in situ hybridization or by RNA sequencing. Thus, this technical approach turned out to be suitable for sensitive localization studies and may also be applicable for other trematodes. The results suggest that SmSPs may play roles in diverse processes of the parasite. Certain SmSPs expressed at the surface may be involved in host-parasite interactions.

• MeSH
• exprese genu * MeSH
• hybridizace in situ fluorescenční metody   normy   MeSH
• proteiny červů genetika   MeSH
• RNA metabolismus   MeSH
• Schistosoma mansoni enzymologie   genetika   MeSH
• serinové proteasy genetika   MeSH
• stanovení celkové genové exprese MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

The processes underlying maturation of mammalian oocytes are considered crucial for the oocytes ability to undergo monospermic fertilization. The same factors of influence are suggested to impact the development of sex associated characteristics, allowing sex differentiation to progress during embryonic growth. The primary aim of the study was to analyze the gene ontology groups involved in regulation of porcine oocytes' response to endogenous stimuli. The results obtained would indicate potential genes influencing sex differentiation. Additionally, they could help to determine new genetic markers, expression profile of which is substantially regulated during porcine oocytes' in vitro maturation. To achieve that, porcine oocytes were collected for analysis before and after in vitro maturation. Pigs were used as they are a readily available model that presents significant similarity to humans in terms of physiology and anatomy. Microarray analysis of oocytes, before and after in vitro maturation was performed and later validated by RT-qPCR. We have particularly detected and analyzed genes belonging to gene ontology groups associated with hormonal stimulation during maturation of the oocytes, that exhibited significant change in expression (fold change ≥ |2|; p < 0.05) namely "Female sex differentiation" (CCND2, MMP14, VEGFA, FST, INHBA, NR5A1), "Response to endogenous stimulus" (INSR, ESR1, CCND2, TXNIP, TACR3, MMP14, FOS, AR, EGR2, IGFBP7, TGFBR3, BTG2, PLD1, PHIP, UBE2B) and "Response to estrogen stimulus" (INSR, ESR1, CCND2, IHH, TXNIP, TACR3, MMP14). Some of them were characteristic for just one of the described ontologies, while some belonged into multiple ontological terms. The genes were analyzed, with their relation to the processes of interest explained. Overall, the study provides us with a range of genes that might serve as molecular markers of in vitro maturation associated processes of the oocytes. This knowledge might serve as a reference for further studies and, after further validation, as a potentially useful knowledge in assessment of the oocytes during assisted reproduction processes.

• MeSH
• IVM techniky * MeSH
• oocyty růst a vývoj   MeSH
• prasata genetika   MeSH
• procesy určující pohlaví genetika   MeSH
• sekvenční analýza hybridizací s uspořádaným souborem oligonukleotidů MeSH
• výpočetní biologie MeSH
• vývojová regulace genové exprese * MeSH
• zvířata MeSH
• Check Tag
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

Expression features of genetic landscape which predispose an individual to the type 1 diabetes are poorly understood. We addressed this question by comparing gene expression profile of freshly isolated peripheral blood mononuclear cells isolated from either patients with type 1 diabetes (T1D), or their first-degree relatives or healthy controls. Our aim was to establish whether a distinct type of 'prodiabetogenic' gene expression pattern in the group of relatives of patients with T1D could be identified. Whole-genome expression profile of nine patients with T1D, their ten first-degree relatives and ten healthy controls was analysed using the human high-density expression microarray chip. Functional aspects of candidate genes were assessed using the MetaCore software. The highest number of differentially expressed genes (547) was found between the autoantibody-negative healthy relatives and the healthy controls. Some of them represent genes critically involved in the regulation of innate immune responses such as TLR signalling and CCR3 signalling in eosinophiles, humoral immune reactions such as BCR pathway, costimulation and cytokine responses mediated by CD137, CD40 and CD28 signalling and IL-1 proinflammatory pathway. Our data demonstrate that expression profile of healthy relatives of patients with T1D is clearly distinct from the pattern found in the healthy controls. That especially concerns differential activation status of genes and signalling pathways involved in proinflammatory processes and those of innate immunity and humoral reactivity. Thus, we posit that the study of the healthy relative's gene expression pattern is instrumental for the identification of novel markers associated with the development of diabetes.

• MeSH
• anotace sekvence MeSH
• autoimunita MeSH
• autoprotilátky biosyntéza   genetika   MeSH
• CD antigeny genetika   imunologie   MeSH
• celogenomová asociační studie MeSH
• diabetes mellitus 1. typu genetika   imunologie   patologie   MeSH
• dítě MeSH
• dospělí MeSH
• humorální imunita MeSH
• interleukin-1 genetika   imunologie   MeSH
• kojenec MeSH
• leukocyty mononukleární imunologie   metabolismus   patologie   MeSH
• lidé MeSH
• mladiství MeSH
• předškolní dítě MeSH
• primární buněčná kultura MeSH
• přirozená imunita MeSH
• receptory CCR3 genetika   imunologie   MeSH
• regulace genové exprese imunologie   MeSH
• rodina MeSH
• signální transdukce MeSH
• stanovení celkové genové exprese MeSH
• studie případů a kontrol MeSH
• toll-like receptory genetika   imunologie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH