ABSTRACT
The conditions of Moscow 2010 summer heat wave were simulated in an accommodation module. Six healthy men aged from 22 to 46 years stayed in the module for 30 days. Measurements of gene expression in peripheral blood leukocytes before, during and 3 day after simulated heat wave were performed using qRT-PCR. We observed a shift in the expression level of certain genes after heat exposure for a long time, and rapid return to the initial level, when volunteers leaved the accommodation module. Eight genes were chosen to form the "heat expression signature". EGR2, EGR3 were upregulated in all six volunteers, EGR1, SIRT1, CYP51A1, MAPK9, BAG5, MNDA were upregulated in 5 volunteers.
Subject(s)
Adaptor Proteins, Signal Transducing/genetics , Antigens, Differentiation, Myelomonocytic/genetics , Early Growth Response Transcription Factors/genetics , Mitogen-Activated Protein Kinase 9/genetics , Sirtuin 1/genetics , Sterol 14-Demethylase/genetics , Thermotolerance/genetics , Transcription Factors/genetics , Adaptor Proteins, Signal Transducing/metabolism , Adult , Antigens, Differentiation, Myelomonocytic/metabolism , Early Growth Response Transcription Factors/metabolism , Gene Expression Profiling , Gene Expression Regulation , Genome-Wide Association Study , Healthy Volunteers , Hot Temperature , Humans , Leukocytes, Mononuclear/metabolism , Male , Middle Aged , Mitogen-Activated Protein Kinase 9/metabolism , Sirtuin 1/metabolism , Sterol 14-Demethylase/metabolism , Transcription Factors/metabolism , TranscriptomeABSTRACT
cDNA expression arrays were used to identify mRNA expression markers for cardiac myxoma. The RNA profile analysis suggests that cardiac myxoma should be considered as a stand-alone tissue rather than a pathological modification of particular normal tissue. The analysis reveals a set of genes which are highly and steadily expressed in cardiac myxomas and can serve as an mRNA expression markers of the tumour. Marker status of selected genes was confirmed by reverse transcriptase polymerase chain reaction analysis. Genes MIA (melanoma inhibitory activity) and PLA2G2A (phospholipase A2, group IIA) show the highest specificity as cardiac myxoma markers, since they have more than 10-fold higher RNA level in cardiac myxomas than in any one of 15 normal tissues tested. Among markers of myxoma at least three are participants of phospholipid metabolism: ANXA3, PLA2G2A, and phospholipid transfer protein. Tissue inhibitor of metalloproteinase 1 and secretory leucocyte protease inhibitor are inhibitors of proteases degrading extracellular matrix proteins and participating in cell proliferation regulation. MIA, SPP1, fibromodulin are modulators or participants of the interaction between extracellular matrix proteins and their cell surface receptors. SOX9 is a transcription factor required for chondrocyte differentiation. Calretenin (CALB2) is an intracellular calcium-binding protein with poorly understood function.
Subject(s)
Biomarkers, Tumor/genetics , Gene Expression Profiling , Gene Expression Regulation, Neoplastic/genetics , Heart Neoplasms/genetics , Myxoma/genetics , RNA, Neoplasm/genetics , Adolescent , Adult , Aged , Biomarkers, Tumor/metabolism , Child , Female , Heart Neoplasms/metabolism , Heart Neoplasms/pathology , Humans , Male , Middle Aged , Myxoma/metabolism , Myxoma/pathology , Oligonucleotide Array Sequence Analysis , RNA, Neoplasm/biosynthesisABSTRACT
Carney complex is an autosomic dominant disorder initially described as the association of cardiac myxomas, spotty skin pigmentation and endocrine overactivity and considered as a multiple neoplasia and lentiginosis syndrome. Mutations in the tumor suppressor gene PRKAR1A, coding for the type 1-alpha regulatory subunit of cAMP-depended protein kinase A have been previously identified in about half of the Carney complex kindreds. In this paper we report identification of the molecular defect in PRKARIA gene in two Carney complex patients. A new mutation (403delAC) located in a 3rd exon of PRKARIA gene has been observed in one case, and a previously described mutation in exon 7 (847delTC) in the second case.
Subject(s)
Cyclic AMP-Dependent Protein Kinases/genetics , Heart Neoplasms/genetics , Multiple Endocrine Neoplasia/genetics , Myxoma/genetics , Pigmentation Disorders/genetics , Adolescent , Adult , Cyclic AMP-Dependent Protein Kinase RIalpha Subunit , Genes, Tumor Suppressor , Humans , Male , Mutation , Pedigree , SyndromeSubject(s)
Bacterial Proteins/genetics , Chromosomes, Bacterial/genetics , Escherichia coli Proteins , Mycoplasma/genetics , Operon , Ribosomal Proteins/genetics , Amino Acid Sequence , Aminopeptidases/genetics , Base Sequence , DNA, Bacterial/chemistry , DNA, Bacterial/genetics , L-Lactate Dehydrogenase/chemistry , L-Lactate Dehydrogenase/genetics , Methionyl Aminopeptidases , Molecular Sequence Data , Mycoplasma/enzymology , Physical Chromosome Mapping , SEC Translocation Channels , Sequence Homology, Amino AcidABSTRACT
M. gallisepticum genome fragment carrying complete coding sequence for ATP-binding subunit of topoisomerase II (topIIB), partial coding sequence for N-terminal part of A-subunit of topoisomerase II and region upstream of topIIB gene (open reading frame encoding 99 amino acids) was sequenced. The nucleotide sequence of topIIB has significant homology with previously reported gyrase genes and parE gene of E. coli. No protein sequence significantly similar to the open reading frame upstream from the gene topIIB was found in GeneBank data.