RESUMEN
Individual variation in alcohol consumption in human populations is determined by genetic, environmental, social and cultural factors. In contrast to humans, genetic contributions to complex behavioral phenotypes can be readily dissected in Drosophila, where both the genetic background and environment can be controlled and behaviors quantified through simple high-throughput assays. Here, we measured voluntary consumption of ethanol in â¼3000 individuals of each sex from an advanced intercross population derived from 37 lines of the Drosophila melanogaster Genetic Reference Panel. Extreme quantitative trait loci mapping identified 385 differentially segregating allelic variants located in or near 291 genes at P < 10-8 . The effects of single nucleotide polymorphisms associated with voluntary ethanol consumption are sex-specific, as found for other alcohol-related phenotypes. To assess causality, we used RNA interference knockdown or P{MiET1} mutants and their corresponding controls and functionally validated 86% of candidate genes in at least one sex. We constructed a genetic network comprised of 23 genes along with a separate trio and a pair of connected genes. Gene ontology analyses showed enrichment of developmental genes, including development of the nervous system. Furthermore, a network of human orthologs showed enrichment for signal transduction processes, protein metabolism and developmental processes, including nervous system development. Our results show that the genetic architecture that underlies variation in voluntary ethanol consumption is sexually dimorphic and partially overlaps with genetic factors that control variation in feeding behavior and alcohol sensitivity. This integrative genetic architecture is rooted in evolutionarily conserved features that can be extrapolated to human genetic interaction networks.
Asunto(s)
Consumo de Bebidas Alcohólicas/genética , Redes Reguladoras de Genes , Sitios de Carácter Cuantitativo , Animales , Proteínas de Drosophila/genética , Drosophila melanogaster , Femenino , Antecedentes Genéticos , Masculino , Polimorfismo de Nucleótido Simple , Factores SexualesRESUMEN
There was studied the state of health of females in modern sector employment: office workers (group 1) and managers (group 2), and the health of their newborns. There was established the increase of the risk for the development of extragenital disorders in groups 1 and 2 compared with the control. For adreno-genital syndrome OR = 3.83; (CI: 1.15-12.74) in group 1 and OR = 4,50 (CI: 1.24-16.28) Group 2; for respiratory diseases OR = 2.77-2.98 (CI: 1.82- 4.85) in groups 1 and 2; for digestive diseases OR = 2.45 (CI: 1.39-4.32) in group 1 and 2.77 (CI: 1.46-5.26)--in Group 2. The risk of infertility in the history of the group 2 was OR = 2.56 (CI: 1.33-4.92). The frequency of reproductive loss in the history is signficantly higher in group 1 (12,9 ? 1.28), is increasing in group 2 (20.19 ± 2.75) with 9.74 ± 2.12 in 100 females in the control. In complications of pregnancy the frequency of the threat of its interruption increases from 16.99 ± 2.31 cases per 100 females in the group 1 to 21.60 ± 2.82 in Group 2, with 11.79 ± 2.31 in the control (p < 0.01). In newborn of these female workers there was revealed an increase in the frequency of the congenital defects of development (CDD) of the circulatory system in group 1 by 1.5 times in the group 2-2.5 times if compared to the control (16.38 ± 1.41 and 24.88 ± 2.96, with 9.74 ± 2.12 cases per 100 infants (p < 0.01; p < 0.001), respectively, the frequency of congenital malformations of the urinary system in groups 1 and 2 (10.00 ± 1.14 and 10.80 ± 2.13), was significantly higher than in control--3.08 ± 1.24 per 100 births (p < 0.01); CDD of genitalia was significantly higher in group 1 (11.01 ± 1.19) with 5.13 ± 1.58 per 100 infants in the control (p < 0.01). Thus, disorders of reproductive health in females involved in modern sector employment depend on the degree of occupational hazard factors; can lead to congenital disease in their newborn, which requires the development of preventive measures.
Asunto(s)
Anomalías Congénitas/etiología , Enfermedades Profesionales/etiología , Complicaciones del Embarazo/etiología , Estrés Psicológico/complicaciones , Carga de Trabajo/psicología , Anomalías Congénitas/epidemiología , Anomalías Congénitas/psicología , Femenino , Humanos , Recién Nacido , Enfermedades Profesionales/epidemiología , Enfermedades Profesionales/psicología , Embarazo , Complicaciones del Embarazo/epidemiología , Complicaciones del Embarazo/psicología , Factores de Riesgo , Federación de Rusia , Estrés Psicológico/epidemiología , Estrés Psicológico/psicologíaRESUMEN
The results of the virological identification of the Chikungunya fever case in Moscow (September, 2013) in an Indonesian visitor are presented. The clinic, electron microscopy, and molecular genetic data are discussed. The Ghikungunya virus (CHIKV) strain CHIKVILEIV-Moscow/1/2013 belonging to the Asian genotype (ID GenBank KF872195) was deposited into the Russian State Collection of viruses (GKV 1239; 18.11.2013).
Asunto(s)
Infecciones por Alphavirus/diagnóstico , Virus Chikungunya/genética , Infecciones por Alphavirus/patología , Infecciones por Alphavirus/virología , Secuencia de Bases , Fiebre Chikungunya , Virus Chikungunya/clasificación , Virus Chikungunya/aislamiento & purificación , Humanos , Indonesia , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Moscú , Filogenia , ViajeRESUMEN
The effectiveness of personal protective equipment (PPE) of hearing, respiratory organs and hands is considered. It is shown that real effect of PPE is twice lower than declared by supplier; this presumes some derating system. The aspects of discomfort and additional risks are analyzed. The hygienic and physiologic evaluation of PPE is required along with elaboration of an official document (OSH standard or sanitary regulation) on selection, personal fit, organization of use and individual training of workers and their motivation.
Asunto(s)
Exposición Profesional/prevención & control , Salud Laboral/normas , Equipos de Seguridad/normas , Humanos , Exposición Profesional/legislación & jurisprudencia , Salud Laboral/legislación & jurisprudencia , Federación de RusiaRESUMEN
The article mentiones issues of preserving and strengthening the reproductive health of women workers, dealed by researchers of the laboratory, established in 1974. It describes the developed concept of the reproductive health problems and scientific research areas, developed documents, including legislative fields, formulates main prospects of the laboratory to meet the requirements of the present moment. Noted the role of the Problem Commission "Scientific basis for the reproductive health of workers", in the work of the Scientific Council on medical and environmental issues of workers' health.
Asunto(s)
Monitoreo del Ambiente/métodos , Enfermedades Profesionales , Exposición Profesional , Salud Reproductiva , Lugar de Trabajo , Femenino , Control de Formularios y Registros , Humanos , Exposición Materna/efectos adversos , Exposición Materna/prevención & control , Enfermedades Profesionales/etiología , Enfermedades Profesionales/fisiopatología , Enfermedades Profesionales/prevención & control , Exposición Profesional/efectos adversos , Exposición Profesional/prevención & control , Salud Reproductiva/legislación & jurisprudencia , Salud Reproductiva/estadística & datos numéricos , Salud de la Mujer , Mujeres Trabajadoras , Lugar de Trabajo/clasificación , Lugar de Trabajo/normasRESUMEN
Using a model system in which the expression of the reporter gene lacZ is under the control of five deleted variants of the copia retrotransposon regulatory region, which includes the 5'-long terminal repeat (LTR) and the 5'-untranslated region (5'-UTR), their contribution to the control of retrotransposon activity in different organs of males and females of Drosophila melanogaster was analyzed. The whole regulatory region provides expression of the reporter gene at the embryonic stage, and in larvae and adult flies only in generative organs. The 5'-end of LTR harbors a positive regulator that determines expression of the retrotransposon in organs of all types. The 3'-end of LTR harbors a negative regulator, which is sex- and time-specific: it represses copia expression in generative organs of males at all stages of development, and only at the imaginal stage in somatic tissues, without any effect on the expression of the retrotransposon in females. 5'-UTR contains a negative regulator of copia expression: it decreases the expression in embryos and generative organs and blocks it in somatic tissues. It may be suggested that a complex set of regulatory elements was formed in the course of the evolution of the retrotransposon, which made it possible to maintain a certain level of its expression in different types of cells and tissues and at different stages of development and, thus, to limit the harm caused to the host and provide the possibility for the retrotransposon to exist in the host genome over many generations.
Asunto(s)
Regiones no Traducidas 5'/fisiología , Regulación del Desarrollo de la Expresión Génica/fisiología , Retroelementos/fisiología , Secuencias Repetidas Terminales/fisiología , Animales , Drosophila melanogaster , Femenino , Larva/genética , Larva/crecimiento & desarrollo , Larva/metabolismo , Masculino , Especificidad de Órganos/fisiologíaRESUMEN
Expression of the lacZ reporter gene controlled by various deletion derivatives of the regulatory region of the copia retrotransposon was studied in the testes of adult transgenic males of the Drosophila melanogaster y1W67c23(2) strain at the age of 3, 6-9, 12-15, 18-21, and 24-27 days. When the construct contained the full-length regulatory region, which included the 5'-long terminal repeat (LTR) and the 5'-untranslated region (UTR), expression was the lowest in males aged 12-15 days and the highest in males aged 3 or 24-27 days. A similar V-shaped age dependence was previously observed for the copia transposition rate and RNA content in a strain with a high rate of copia transposition. Thus, the V-shaped age dependence of expression, which is unusual for Drosophila, proved to be characteristic of copia regardless of its transposition rate. Deletion of the 5' or 3' end of the LTR, but not of the UTR, changed the age dependence of the level of reporter gene expression. In this case, expression was the highest in 3-day-old males and gradually decreased with age, as typical for many Drosophila genes. It was assumed that the 5'- and 3'-terminal regions of the copia LTR contain regulatory elements responsible for the V-shaped age dependence of expression, while the expression level depends to a greater extent on the regulatory elements of UTR.
Asunto(s)
Envejecimiento/genética , Drosophila melanogaster/genética , Retroelementos , Testículo/metabolismo , Regiones no Traducidas 3' , Regiones no Traducidas 5' , Animales , Animales Modificados Genéticamente , MasculinoRESUMEN
Replicates of the two isogenic laboratory strains of Drosophila melanogaster, 2b and Harwich, contain different average transposable element (TE) copy numbers in the same genetic background. These lines were used to analyze the correlation between TE copy number and fitness. Assuming a weak deleterious effect of each TE insertion, a decrease in fitness is expected with an increase in genomic TE copy number. Higher rates of ectopic exchanges and, consequently, chromosomal rearrangements resulting in early embryonic death are also predicted from an increase in TE copy number. Therefore egg hatchability is expected to decrease as the genomic TE copy number increases. In 2b, where replicate lines have diverged up by 90 TE copies per haploid genome, a negative correlation between the number of TE insertions and both fitness and egg hatchability were found. Neither correlation was significant for the Harwich replicates, which have only diverged by 30 TE copies. The average deleterious effect of a TE insertion on fitness and its components was estimated as 0.004. Both homozygous and heterozygous TE insertions were shown to have deleterious effects on fitness and its components.
Asunto(s)
Elementos Transponibles de ADN/genética , Drosophila melanogaster/genética , Genoma , Análisis de Varianza , Animales , Conducta Competitiva/fisiología , Drosophila melanogaster/fisiología , Hibridación in Situ , Reproducción/genética , Reproducción/fisiología , Selección Genética , Especificidad de la Especie , Translocación Genética/genéticaRESUMEN
Expression of the lacZ reporter gene under the control of five deletion derivatives of the copia regulatory region including the 5' long terminal repeat (LTR) and the 5' untranslated region (UTR) was assayed in the testes of transgenic Drosophila melanogaster males (larvae and imago). The full-length copia regulatory region (LTR + UTR) ensured expression of the reporter gene in testes of both larvae and adult males. Deletion of UTR or 3' end of LTR increased lacZ expression in the testes, whereas deletion of the 5' end of LTR increased it. This indicated that a positive regulator of copia expression is at the 5' end of LTR and that negative regulators are at the 3' end of LTR and in UTR. The effects of the fragments of the copia regulatory region on reporter gene expression in the testes in vivo did not completely coincide with the effects observed earlier in cultured cells. We suggest that this difference is due to different regulation of expression of the fusion constructs integrated into chromatin as compared to their transient expression.
Asunto(s)
Drosophila melanogaster/genética , Retroelementos , Testículo/metabolismo , Regiones no Traducidas 5' , Animales , Genes Reporteros , Masculino , Secuencias Repetitivas de Ácidos NucleicosRESUMEN
The article covers analysis and summary of data on occupational traumatism among female workers engaged into various economic branches of RF. The authors analysed distribution of victims according to occupational accident types, causes of traumatism, studied dependence on the victims' age and length of service, followed the relationships with possible reproductive disorders.
Asunto(s)
Accidentes de Trabajo/mortalidad , Infertilidad Femenina/epidemiología , Infertilidad Femenina/etiología , Adulto , Femenino , Humanos , Persona de Mediana Edad , Federación de Rusia/epidemiologíaRESUMEN
Large-scale estimation of micronuclear index in the population of different physical-geographic regions near Chernivtsi was performed for the first time. The authors managed to reveal the correlation between the rate of genetic changes in children from Bukovyna and the level of soil and water contamination with heavy metals and aluminum in settlements examined.
Asunto(s)
Micronúcleos con Defecto Cromosómico , Mutación , Aluminio/toxicidad , Niño , Humanos , Metales Pesados/toxicidad , Contaminantes del Suelo/toxicidad , Ucrania , Contaminantes del Agua/toxicidadRESUMEN
The results of comparative analysis of cytogenetic effects of various chemical and physical factors on meristemic cells of field pea (Pisum sativum L.) are presented. Cytogenetic effects of aluminum, cadmium and selenium compounds as well as X-ray irradiation were studied. Cytogenetic indices were investigated for different doses of the above factors and peculiarities of their influence on the ratio of mitotic phases were analyzed. The increasing in the proportion of cells at the specific mitotic stage was revealed. There were anaphase stage for aluminum chloride, prophase stage for cadmium chloride, meta- and anaphase stages for sodium selenate, and telophase stage for X-rays. Investigated chemical elements may be ranged according to their ability to induce the aberrant anaphase frequency in the row: Se (from 3.75 x 10(-6) M) > A1 (from 3.86 x 10(-5) M) > Cd (from 8.44 x 10(-5) M). Maximal experimental dose of X-ray irradiation (9.03 x 10(-3) C/kg) induces the frequency of chromosome aberration similar to those induced by maximal experimental doses of aluminum and selenium (3.86 x 10(-4) M and 8.34 x 10(-6) M).
Asunto(s)
Análisis Citogenético , Meristema/efectos de los fármacos , Meristema/efectos de la radiación , Pisum sativum/efectos de los fármacos , Pisum sativum/efectos de la radiación , Cloruro de Aluminio , Compuestos de Aluminio/farmacología , Cloruro de Cadmio/farmacología , Ciclo Celular/efectos de la radiación , Cloruros/farmacología , Aberraciones Cromosómicas/inducido químicamente , Aberraciones Cromosómicas/efectos de los fármacos , Aberraciones Cromosómicas/efectos de la radiación , Relación Dosis-Respuesta a Droga , Relación Dosis-Respuesta en la Radiación , Cinética , Meristema/genética , Mitosis/efectos de los fármacos , Mitosis/efectos de la radiación , Pisum sativum/genética , Ácido Selénico , Compuestos de Selenio/farmacologíaRESUMEN
Waveguides in LiNbO3 are realized by a soft proton exchange (SPE) process with use of a melt of stearic acid highly diluted by lithium stearate. No phase transitions are formed when alpha-phase waveguides are obtained by SPE. The alpha-phase presents the same crystalline structure as that of pure LiNbO3 crystal, and it maintains the excellent nonlinear and electro-optical properties of the bulk material. The kinetics of the SPE method is studied by the use of secondary-ion mass spectrometry and prism-coupling techniques. The hydrogen effective diffusion coefficient as well as the self-diffusion coefficients of H+ and Li+ ions are determined as a function of the proton-exchange temperature for X-cut LiNbO3.
RESUMEN
Three sublines of an inbred laboratory line of Drosophila melanogaster with the initial copia transposition rate 2 x 10(-2), 2 x 10(-3), and 5 x 10(-4) per copy per generation were reared for several dozen generations under conditions of low effective population size (by full-sib crosses or in a small mass culture of 10 females x 10 males). All six lines were tested for the transposition rate, location pattern, and copy number of copia in euchromatic genome regions and for fitness inferred from the intraspecific competition index. The copia transposition rate remained constant in both versions of the lines with an initially lower rate and decreased by an order of magnitude in both versions of the line with an initially higher rate. New copia insertions behaved as selectively neutral and were accumulated in the genome. Each new copy decreased fitness by less than 1% on average. Some of the existing unfixed insertions remained segregating after long-term inbreeding and were assumed to provide a selective advantage to heterozygotes.
Asunto(s)
Elementos Transponibles de ADN , Proteínas de Drosophila , Drosophila melanogaster/fisiología , Variación Genética , Péptido Hidrolasas , Retroelementos/genética , Adaptación Biológica/genética , Animales , Mapeo Cromosómico , Dosificación de Gen , Proteínas de Insectos/genéticaRESUMEN
In males of an inbred Drosophila melanogaster line (2b), a significant age dependence of the transposition rate of the retrotransposon copia was noted. Among males of seven different age groups, the lowest transposition rate was detected in 12- to 15-day-old males, and the highest transposition rates were observed in 1- to 3- and in 24- to 27-day-old males: rates of 0.36 +/- 0.07, 1.09 +/- 0.20 and 117 +/- 0.27 transpositions per generation per gamete, respectively, were measured. This type of age dependence of the transposition rate indicates that copia transpositions do not occur in stem cells. Clusters of copia transpositions were detected, which confirms that copia transpositions occur at premeiotic stages of spermatogenesis. A positive association between copia transposition rate and copia transcript abundance in the testes was demonstrated for 1- to 3-, 12- to 15- and 24- to 27-day-old males, as well as for 1- to 3-day-old males of two closely related sublines of the 2b line that differed in copia transposition rate. Thus, copia transposition rate in males is apparently regulated at the level of copia RNA abundance in testes. The age dependence of the copia transposition rate and copia transcript abundance within the 2b line demonstrates that the physiological state of the host may affect expression and transposition of the retroelement.
Asunto(s)
Drosophila melanogaster/genética , Regulación del Desarrollo de la Expresión Génica/genética , Retroelementos/genética , Factores de Edad , Animales , Animales Endogámicos , Drosophila melanogaster/fisiología , Masculino , ARN Mensajero/análisis , Espermatogénesis/genética , Testículo/químicaAsunto(s)
Trastornos de las Plaquetas Sanguíneas/sangre , Plaquetas/metabolismo , Trastornos de las Plaquetas Sanguíneas/diagnóstico , Plaquetas/ultraestructura , Diagnóstico Diferencial , Trastornos Hemorrágicos/sangre , Trastornos Hemorrágicos/diagnóstico , Humanos , Agregación Plaquetaria , Pruebas de Función PlaquetariaRESUMEN
The radioactive microsphere technique was used to study mechanisms of disappearance of myocardial ischemia during partial occlusion of the left descending anterior coronary artery with implanted device in conscious immobilized rabbits. Microspheres (15 microns, NEN, USA) were injected before occlusion, immediately after ST-segment elevation and after disappearance of ST-segment shift. In ischemic region blood flow dropped by 45% (p less than 0.05) and mean blood pressure decreased by 12% (P less than 0.05) on the 1st minute of coronary occlusion. 8-15 min later ST-segment elevation disappeared and the blood flow in ischemic region became higher than control level (on the average by 35%). It is suggested that ischemia is abolished mainly by dilatation of distal coronary vessels, than by activation of collateral blood flow.
Asunto(s)
Enfermedad Coronaria/etiología , Vasos Coronarios/fisiología , Vigilia/fisiología , Animales , Cateterismo Cardíaco , Circulación Coronaria , Enfermedad Coronaria/diagnóstico por imagen , Enfermedad Coronaria/fisiopatología , Vasos Coronarios/diagnóstico por imagen , Electrocardiografía , Corazón/diagnóstico por imagen , Corazón/fisiopatología , Hemodinámica , Masculino , Microesferas , Conejos , Cintigrafía , Restricción Física , Factores de Tiempo , Resistencia VascularRESUMEN
The poly(A)-containing mRNA from human pituitary and prolactinoma have been purified and translated in the cell-free system from rabbit reticulocytes. mRNA from prolactinoma was shown to be enriched with specific prolactin mRNA. DNA complementary to the prolactin mRNA from human pituitary was obtained and cloned. Sequencing of the 900 bp insert by the Maxam-Gilbert technique suggested the cDNA cloned to cole for the previously published amino acid sequence, mismatches with mRNA from prolactinoma occurring at the third positions of codons and thus not causing amino acid substitutions.
Asunto(s)
Clonación Molecular , ADN/genética , Hipófisis/análisis , Prolactina/genética , ARN Mensajero/genética , Secuencia de Bases , ADN/análisis , ADN/síntesis química , Electroforesis en Gel de Poliacrilamida , Humanos , Datos de Secuencia Molecular , Prolactina/análisis , ARN Mensajero/análisisRESUMEN
The influence of ethacizin and nonachlazin on the size of myocardial necrosis, caused by 1.5-hour partial occlusion of the coronary artery was studied in conscious rabbits. The drugs were administered for 3 days, after the blood supply in the ischemic zones had been recovered. Ethacizin had a more pronounced effect, as compared to nonachlazin. The data obtained suggest that in the case of isochemic heart disease pharmacotherapy can be used not only for the prevention and arrest of anginal attacks, but also for the treatment of postischemic cardiac lesions.