The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain...Full Text Available
Signatures of natural selection occur throughout the human genome and can be detected at the sequence level. We have re-sequenced ABCE1, a host candidate gene essential for...Full Text Available
The accelerating development of biochemical and DNA-based diagnostic tests for humangenetic conditions in the last decade has engendered a revolution in genetic diagnosis. Both genetic testing and...Full Text Available
BackgroundA goal of humangenetics is to discover genetic factors that influence individuals' susceptibility to common diseases. Most common diseases are thought to result from the...Full Text Available
The Molecular Genetics and Carcinogenesis Section conducts studies using human epithelial cells to assess: activation of proto-oncogenes by chemical and physical carcinogens; inactivation and dysregulation of tumor suppressor genes by chemical and physical
The Liver Carcinogenesis Section uses the modern technologies of molecular biology, cell biology, protein chemistry and genetics to investigate the biochemical and genetic pathways involved in human liver cancer.
Recently, there has been significant progress in the development of genetically-engineered mouse (GEM) models. By introducing genetic alterations and/or signaling alterations of human pancreatic cancer...Full Text Available
The continued evolution of bacterial pathogens has major implications for both human and animal disease, but the exchange of genetic material between host-restricted pathogens is rarely considered....Full Text Available
The genetic basis of odorant-specific variations in human olfactory thresholds, and in particular of enhanced odorant sensitivity (hyperosmia), remains largely unknown. Olfactory receptor (OR) segregating...Full Text Available
With the advent of dense maps of humangenetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms...Full Text Available
Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million...Full Text Available
Genetically identical rhesus monkeys would have tremendous utility as models for the study of human disease and would be particularly valuable for vaccine trials and tissue transplantation studies where...Full Text Available
Over the past two decades, combined advances in genetics, developmental biology and biochemistry have transformed the study of human birth defects. This review describes the importance of genome architecture,...Full Text Available
The zebrafish is emerging as a prominent model system for studying the genetics of human development and disease. Genetic alterations that underlie each mutant model can exist in the form of...Full Text Available
The loss of #alpha#-globin gene transcriptional activity rarely occurs as an acquired abnormality during the evolution of myeloproliferative disease or preleukemia. To test whether the mutation responsible for the loss of #alpha#-globin gene expression (hemoglobin H disease) in these patients is linked with the #alpha#-globin genes on chromosome 16, the authors transferred chromosome 16 from preleukemic patients with acquired hemoglobin H disease to mouse erythroleukemia cells and measured the transcriptional activity of the human #alpha#-globin genes. After transfer to mouse erythroleukemia cells, the expression of human #alpha#-globin genes from the peripheral blood or marrow cells of preleukemic patients with acquired hemoglobin H disease was similar to that of human #alpha#-globin genes transferred to mouse erythroleukemia cells from normal donors. These data showed that factor(s) in the mouse ...
Following the publication (Stenhouse and Baxter, Nature; 267:828 (1977)) of the levels of bomb "1"4C and the residence times of carbon in the human body, excess radiation burdens from this radioisotope are evaluated under the assumption that no radiation dose, however small, can be regarded as entirely harmless biologically. The estimated annual absorbed dose attributable to "1"4C both natural and man-made for 1953-1973 and similar predicted figures for 1975-2025 are shown graphically. The cumulated doses to gonads (over 30 yr) and to bone marrow and bone-lining cells (over 60 yr) and also estimates of the biological damage to reproductive cells from "1"4C #beta#-irradiation (30 yr accumulated dose) are presented. It is concluded from both genetic and somatic considerations, that the potential human radiation burden due to artificially produced "1"4C calculated using the assumptions stated is certainly significant and, ...
This book presents in simple terms the basis of molecular genetics and how it is used to obtain an understanding of the human genome. The author's central focus is the transistion of genetics from statistics to experimental manipulations, and he offers analogies that help readers visualize the genome, thereby avoiding conventional scientific presentations. He illustrates how genetics is used in scientific laboratories, in courtrooms, and in hospitals. Little is presented about the complex social and ethical issues raised by the Human Genome project.
Knowledge about retinal photoreceptor signal transduction and the visual cycle required for normal eyesight has expanded exponentially over the past decade. Substantial progress in humangenetics...Full Text Available
In animal models, single-gene mutations in genes involved in insulin/IGF and target of rapamycin signalling pathways extend lifespan to a considerable extent. The genetic, genomic and epigenetic influences...Full Text Available
diet and genetic obesity metabolic defects and inflammation. To determine the role of adipocyte death in promoting adipose tissue inflammation and insulin resistance in animal...
Journal of HumanGenetics. 82: 873-882. 3134. Schulz, I., Schneider, P. M., Olek, K, Rothschild, M. A., and Tsokos, M. (2006) Examination of Postmortem Animal Interference to Human...
Human longevity is in part genetically determined, and the insulin/IGF-1 signal transduction (IIS) pathway has consistently been implicated. In humans, type 2 diabetes is a frequent disease that results...Full Text Available
Phenylalanine hydroxylase was purified from crude extracts of human livers which show enzyme activity by usine two different methods: (a) affinity chromatography and (b) immunoprecipitation with an...Full Text Available
DNA from the peripheral blood mononuclear cells of 17 different individuals infected with human T-cell lymphoma/leukemia virus type II (HTLV-II) was successfully amplified by the polymerase chain reaction...Full Text Available
Most human diseases are related in some way to the loss or gain in gene functions. Regulation of gene expression is a complex process. In addition to genetic mechanisms, epigenetic causes are...Full Text Available
BackgroundThe southern African tick shell, Nassarius kraussianus (Dunker, 1846), has been identified as being the earliest known ornamental object used by human...Full Text Available
For most cells there exists an optimum cooling rate. Both supraoptimal rates and suboptimal rates can be very damaging. The optimal rate varies enormously from less than or equal to 1/sup 0/C/min for mammalian preimplantation embryos to greater than or equal to 800/sup 0/C/min for the human red cell. Death at supraoptimal rates is the result of the formation of intracellular ice and its recrystallization during warming. Intracellular ice occurs when cells are cooled too rapidly to allow them to equilibrate by the osmotic withdrawal of intracellular water. The definition of too rapid depends chiefly on the size of the cell and its permeability to water. Death at suboptimal rates is a consequence of the major alterations in aqueous solutions produced by ice formation. The chief effects are a major reduction in the fraction of the solution remaining unfrozen at a given temperature and a major increase in the solute concentration of that fraction. ...
Transcriptional silencing in Saccharomyces cerevisiae occurs at several genetic loci, including the ribosomal DNA (rDNA). Silencing at telomeres (telomere position effect [TPE])...Full Text Available
Late somatic and genetic radiation effects are imperfectly understood, particularly in the human species. However the available information is sufficient to draw reasonably precise risk estimates in man for many types of damage by means of scientifically justifiable procedures and with the necessary caution. This overall absolute risk of major somatic and genetic damage may be set at around 10"-"4/rad of chronic whole-body doses.
Recessive inactivating mutations in human matrix metalloproteinase 2 (MMP2, gelatinase A) are associated with syndromes that include abnormal facial appearance, short stature, and severe bone...Full Text Available
The development of new methods for gene addition to mammalian genomes is necessary to overcome the limitations of conventional genetic engineering strategies. Although a variety of DNA-modifying enzymes...Full Text Available
Apolipoprotein (apo) A-IV is a polymorphic, intestinally derived apolipoprotein that is genetically linked to and similar in structure to apoA-I, the major apolipoprotein in high density lipoproteins...Full Text Available
Plasmodium falciparum, the causative agent of human malaria, invades host erythrocytes using several proteins on the surface of the invasive merozoite, which have been proposed...Full Text Available
BackgroundComplex etiology and pathogenesis of pathophysiological components of the cardio-metabolic syndrome have been demonstrated in humans and animal models.Methodology/Principal...Full Text Available
Phenylketonuria (PKU) is a common genetic disorder in humans that arises from deficient activity of phenylalanine hydroxylase (PAH), which catalyzes the conversion of phenylalanine to tyrosine....Full Text Available
Linkage disequilibrium (LD) between densely spaced, polymorphic genetic markers in humans and other species contains information about historical population size. Inferring past population size is of...Full Text Available
Over 200 mutations in the retina specific member of the ATP-binding cassette transporter super-family (ABCA4) have been associated with a diverse group of human retinal diseases....Full Text Available
Neurofibromatosis type 1 (NF1) results from mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin. NF1 patients display diverse clinical manifestations,...Full Text Available
In the context of social dilemmas, previous research has shown that human cooperation is mainly based on the social norm of conditional cooperation. While in most cases individuals behave according...Full Text Available
It is widely accepted that specific human papillomavirus (HPV) types are the central etiologic agent of cervical carcinogenesis. However, a number of infected women do not develop invasive lesions,...Full Text Available
Spontaneous mouse models of cancer show promise to more accurately recapitulate human disease and predict clinical efficacy. Transgenic mice or viral vectors have been required to generate spontaneous...Full Text Available
The extensive diversity of Plasmodium falciparum antigens is a major obstacle to a broadly effective malaria vaccine but population genetics has rarely been used to guide vaccine design....Full Text Available
Enterotoxigenic Escherichia coli (ETEC) is a leading cause of diarrhea in travelers to countries where the disease is endemic and causes a major disease burden in the indigenous population,...Full Text Available
ObjectiveThe goal of the study was to investigate the genetic and molecular basis of a novel syndrome of marked hyperglucagonemia and pancreatic α cell hyperplasia...Full Text Available
Large-scale cancer genome projects will soon be able to sequence many cancer genomes to comprehensively identify genetic changes in human cancer. Genome-wide association studies have also identified...Full Text Available
Substantially genetically stable continuous human cell lines derived from normal human mammary epithelial cells (HMEC) and processes for making and using the same. In a preferred embodiment, the cell lines are derived by treating normal human mammary epithelial tissue with a chemical carcinogen such as benzo(a)pyrene. The novel cell lines serve as useful substrates for elucidating the potential effects of a number of toxins, carcinogens and mutagens as well as of the addition of exogenous genetic material. The autogenic parent cells from which the cell lines are derived serve as convenient control samples for testing. The cell lines are not neoplastically transformed, although they have acquired several properties which distinguish them from their normal progenitors. 2 tabs.
Genetic mapping is approached using the techniques of high resolution fluorescence in situ hybridization (FISH). This technology and the results of its application are designed to rapidly generate whole genome as tool box of expressed sequence to speed the identification of human disease genes. The results of this study are intended to dovetail with and to link the results of existing technologies for creating backbone YAC and genetic maps. In the first eight months, this approach generated 60--80% of the expressed sequence map, the remainder expected to be derived through more long-term, labor-intensive, regional chromosomal gene searches or sequencing. The laboratory has made significant progress in the set-up phase, in mapping fetal and adult brain and other cDNAs, in testing a model system for directly linking genetic and physical maps using FISH with small fragments, in setting up a database, and ...
Utilizing the CEPH reference panel and genotypic data for 53 markers, we have constructed a 20-locus multipoint genetic map of human chromosome 4. New RFLPs are reported for four loci. The map integrates...Full Text Available
The 50th anniversary of Mary Lyon?s 1961 Nature paper, proposing random inactivation in early embryonic life of one of the two X chromosomes in the cells of mammalian females, provides an opportunity to remember and celebrate the work of those involved. While the hypothesis was initially put forward by Lyon based on findings in the mouse, it was founded on earlier studies, notably the work of Susumu Ohno; it was also suggested independently by Beutler and colleagues using experimental evidence from a human X-linked disorder, glucose-6-phosphate dehydrogenase deficiency, and has proved to be of as great importance for human and medical genetics as it has for general mammalian genetics. Alongside the hypothesis itself, previous cytological studies of mouse and human chromosomes, and the obse...
In the post Genome era, the aim of behavior genetics has shifted from estimating the relative contributions of genes and environmental factors to (co-)variation in human complex traits, to localization of genes and identification of functional genetic variants. This special issue reflects this transition and presents fifteen papers that report on genome-wide linkage scans for complex traits in humans and on methodological tools and innovations. Six papers focus on cognition and report overlapping linkage peaks on chromosomes 6p and 14p. Papers on addictive behavior, i.e. smoking and alcohol dependence and its endophenotypes, find moderate LOD scores on chromosomes 6p, 5q, 4p and 7q, respectively. Three papers concentrate on emotionality, depression and loneliness and examine chromosomes 2q...
The gene encoding the human type I pituitary adenylate cyclase activating polypeptide receptor (ADCYAP1R1) was mapped to chromosome 7 by PCR analysis of genomic DNA from a human/rodent somatic cell hybrid mapping panel. This assignment was confirmed and the gene localized to chromosome band 7p14 by fluorescence in situ hybridization. A yeast artificial chromosome containing ADCYAP1R1 was identified in the CEPH {open_quotes}B{close_quotes} Mega-YAC library. This YAC includes two highly polymorphic dinucleotide repeat sequences that will facilitate genetic studies of the contribution of ADCYAP1R1 in disease states of the central nervous and neuroendocrine systems. 13 refs., 1 fig.
Hepatitis B virus (HBV) DNA integration has been shown to occur frequently in human hepatocellular carcinomas. We have investigated whether common cellular DNA domains might be rearranged, possibly...Full Text Available
Chromosomal translocation, deletion, and inversion/duplication directly linked to hepatitis B virus (HBV) DNA integration occur frequently in host DNA of human hepatocellular carcinomas. To test the...Full Text Available
A hitherto unreported immunofluorescent staining pattern obtained from human sera is described. Serum from six patients was found to possess specific antibody activity against lining cells of loops...Full Text Available
BackgroundAlternative splicing is an important mechanism mediating the diversified functions of genes in multicellular organisms, and such event occurs in around 40-60% of human...Full Text Available
The relationship of attention-deficit/hyperactivity disorder (ADHD) to learning disorders was reviewed and included reading disability, mathematics learning disability, and nonverbal learning disability. Genetic, neuroimaging, and neuropsychological functioning were examined for each disorder, along with a discussion of any existing literature when ADHD co-occurred with the disorder. All the disorders were found to frequently co-occur with ADHD. A review of the underlying neuroanatomic and neurofunctional data found specific structures that frequently co-occur in these disorders with others that are specific to the individual diagnosis. Aberrations in structure and/or function were found for the caudate, corpus callosum, and cerebellum, making these structures sensitive for the disorder bu...
Human errors have been reported as one of the most significant causes of major events in nuclear power plants (NPPs). For example, Kim and Park found that about 23% of the major events that occurred at NPPs in Republic of Korea from 1986 to 2006 were caused by human errors. For this reason, a detailed analysis on human errors is an important task for increasing the safety of NPPs. Kim and Choi?2 analyzed 100 human-related unplanned reactor trip events in the Republic of Korea from 1986 to 2006 to consider the type of human errors based on the simple path model for human-induced unplanned reactor trips developed by Kim and Park. In this paper, we will investigate and perform a detailed analysis of the data to identify human-related unplanned reactor trip trends
Outbreaks of disease attributable to human error or natural causes can provide unique opportunities to gain new information about host-pathogen interactions and new leads for pathogenesis research. Poststreptococcal glomerulonephritis (PSGN), a sequela of infection with pathogenic streptococci, is a common cause of preventable kidney disease worldwide. Although PSGN usually occurs after infection with group A streptococci, organisms of Lancefield group C and G also can be responsible. Despite decades of study, the molecular pathogenesis of PSGN is poorly understood. As a first step toward gaining new information about PSGN pathogenesis, we sequenced the genome of Streptococcus equi subsp. zooepidemicus strain MGCS10565, a group C organism that caused a very large and unusually severe epidemic of nephritis in Brazil. The genome is a circular chromosome of 2,024,171 bp. The genome shares extensive gene content, including many virulence factors, ...
The infection of cultured human cells with baboon endogenous virus (BEV) frequently leads to an association of viral DNA with a specific genetic locus (termed BEVI, for baboon endogenous virus infection) on chromosome 6. Restriction endonuclease digestion of DNA from BEV-infected human cells and their derived somatic cell clones frequently revealed a common cellular DNA sequence in the proximity of one of the junctions between cellular DNA and the integrated virus. We propose that a short cellular DNA sequence, repeated on chromosome 6 and separated by unique DNA sequences, presents a high-affinity target for the integration of BEV in human cells. PMID:6401843
Major staple crops are often deficient in some of the nutrients required in human diet. Thus, malnutrition is a major problem, especially in developing countries, where a diversified diet is not affordable for the majority. Several strategies have been adopted to improve nutrition. However, micronutrient deficiency is still widely spread. Rice is one of the most important staple foods for a large part of the world's population. Therefore, even a small improvement in nutritional content of rice seeds can have a dramatic impact on human health. Different approaches are being exploited to produce rice enhanced in nutrients with iron and provitamin A.
Genetic mapping is approached using the techniques of high resolution fluorescence in situ hybridization (FISH). This technology and the results of its application are designed to rapidly generate whole genome as tool box of expressed sequence to speed the identification of human disease genes. The results of this study are intended to dovetail with and to link the results of existing technologies for creating backbone YAC and genetic maps. In the first eight months, this approach generated 60--80% of the expressed sequence map, the remainder expected to be derived through more long-term, labor-intensive, regional chromosomal gene searches or sequencing. The laboratory has made significant progress in the set-up phase, in mapping fetal and adult brain and other cDNAs, in testing a model system for directly linking genetic and physical maps using FISH with small fragments, in setting up a database, and ...
Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the ...
During the past 12,000 years agricultural systems have transitioned from natural habitats to conventional agricultural regions, and recently to large areas of genetically- engineered (GE) croplands. This GE revolution occurred for cotton in a span of slightly more than a decade w...
Although caloric restriction (CR) has been shown to increase lifespan in various animal models, the mechanisms underlying this phenomenon have not yet been revealed. We developed an in vitro...Full Text Available
BackgroundAmplification of 3q26 is one of the most frequent genetic alterations in many human malignancies. Recently, we isolated a novel oncogene eIF-5A2 within...Full Text Available
A total of 172 persons from nine South Amerindian, three African and one Eskimo populations were studied in relation to the Paired box gene 9 (PAX9) exon 3 (138 base...Full Text Available
...Explore - The Lab - Australian Broadcasting Corporation's Gateway to Science Radio TV Shop News Sport Local Children Science Environment more Topics help Science Home News in Science Features Explore TV & Radio Dr Karl Play Podcasts DNA - The discovery of the double helix structure of DNA completely changed biology and opened up the new field of genetics. The 'backbone of life' has given us the human genome, stem cell research, ...
The recently described retinoid X receptors (RXRs) respond to the novel retinoid 9-cis-retinoic acid and also serve as heterodimeric partners for the vitamin D, thyroid hormone, and retinoic acid receptors (VDR, TR, and RAR, respectively). In this work, the authors report high-resolution localization of the human RXR genes within cytogenetic bands and also within a standard reference map of cosmid DNA markers on human chromosomes. They have determined the location of the human RXR genes by pairwise hybridization of the RXR cosmids and reference markers, using fluorescence in situ hybridization. They localized (i) RXR[alpha] (RXRA) to chromosome 9 band q34.3; (ii) RXR[beta] (RXRB) to chromosome 6 band 21.3; and (iii) RXR[gamma] (RXRG) to chromosome 1 band q22-q23. Six retinoid-responsive transcription factors have been identified so far, including three retinoic acid receptors in addition to the three RXRs. Interestingly, ...
In mammals and insects, paracellular blood barriers isolate the nervous system from the rest of the animal. Glia and accessory cells of the nervous system use pumps, channels, cotransporters, and exchangers collectively to maintain the extracellular ion environment and osmotic balance in the nervous system. At present, the molecular mechanisms that regulate this process remain unclear. In humans, loss of extracellular ion and volume regulation in the nervous system poses serious health threats. Drosophila is a model genetic organism with a proven track record for uncovering molecular mechanisms relevant to human health and disease. Here, we review what is known about extracellular ion and volume regulation in larval abdominal nerves, present some new data about the impact of neural activity on the extracellular environment, and relate the findings to mammalian systems. Homologies have been found at the level of morphology, ...
The Drosophila hairy gene encodes a basic helix- loop-helix protein that functions in at least two steps during Drosophila development: (1) during embryogenesis, when it partakes in the establishment of segments, and (2) during the larval stage, when it functions negatively in determining the pattern of sensory bristles on the adult fly. In the rat, a structurally homologous gene (RHL) behaves as an immediate-early gene in its response to growth factors and can, like that in Drosophila, suppress neuronal differentiation events. Here, the authors report the genomic cloning of the human hairy gene homolog (HRY). The coding region of the gene is contained within four exons. The predicted amino acid sequence reveals only four amino acid differences between the human and rat genes. Analysis of the DNA sequence 5[prime] to the coding region reveals a putatitve untranslated exon. To increase the value of the HRY gene as a genetic ...
Serratia odorifera biogroup 1 was isolated from the blood and urine of an alcoholic male with cirrhosis and signs of septic shock. The organism is rarely reported to occur in clinical specimens. This...Full Text Available
BackgroundA key question in the risk assessment of exposures to multiple chemicals is whether mixture effects may occur when chemicals are combined at low doses which individually...Full Text Available
Infection with the Ad5-SVR4 virus was used to introduce the large T antigen encoding region of the SV40 virus into bovine and human corneal endothelial cells. Expression of large T antigen occurred...Full Text Available
In both humans and songbirds, infants learn vocalizations by imitating the sounds of adult tutors with whom they interact during an early sensitive period. Vocal learning occurs in few animal taxa;...Full Text Available
The amyloidoses are the prototype gain of toxic function protein misfolding diseases. As such, several naturally occurring animal models and their inducible variants provided some of the first...Full Text Available
Transthyretin aggregation-associated proteotoxicity appears to cause several human amyloid diseases. Rate-limiting tetramer dissociation and monomer misfolding of transthyretin (TTR) occur before...Full Text Available
Pestiviruses are positive-strand RNA viruses closely related to human hepatitis C virus. Gene expression of these viruses occurs via translation of a polyprotein, which is further processed by cellular...Full Text Available
Biological control agents can be more effective if their populations are genetically diverse, particularly when the target invasive plant comprises a range of genotypes with different susceptibilities and occurs across various microclimates. We report on the use of an efficient approach to find, in the native range, diverse isolates of a rust fungus for biological control. An outdoor trap garden containing various clones of invasive European blackberry (Rubus fruticosus agg.) collected in Australia, each with a different DNA phenotype, was established in France. Within 4?weeks of establishment, the leaf-rust fungus Phragmidium violaceum was recovered from all clones in the garden. Molecular analyses of eight recovered and purified isolates of the fungus from the garden revealed that they w...
In defining criteria for good protection against ionizing radiation, it is important to assess quantitatively the likely risk of any radiation exposure. The 'somatic' risks to the individual result mainly from induction of cancer in the organs irradiated, and these risks can now be estimated on the basis of numerous detailed epidemiological surveys of exposed human populations. Estimates of the risk of hereditary effects, from genetic changes induced in germ cells, are based largely on the frequency with which such effects are induced in other species. In both cases the risk at very low dose can be inferred using knowledge of the way in which radiation damage is caused in tissues. Coherent systems of radiation protection are based on a restriction of doses to the whole body and to individual organs, such that the induction of cancer and genetic harm is infrequent, and the threshold dose for causing other, 'non-stochastic', ...
Daya Bay Nuclear Power Plant is put into commercial operation in 1994 Until 1996, there are 368 human error events in operating and maintenance area, occupying 39% of total events. These events occurred mainly in the processes of maintenance, test equipment isolation and system on-line, in particular in refuelling and maintenance. The author analyses root causes for human errorievents, which are mainly operator omission or error procedure deficiency; procedure not followed; lack of training; communication failures; work management inadequacy. The protective measures and treatment principle for human error events are also discussed, and several examples applying them are given. Finally, it is put forward that key to prevent human error event lies in the coordination and management, person in charge of work, and good work habits of staffs.
Jittery (ji) is a recessive mouse mutation on Chromosome 10 characterized by progressive ataxic gait, dystonic movements, spontaneus seizures, and death by dehydration/starvation before fertility. Recently, a viable neurological recessive mutation, hesitant, was discovered. It is characterized by hesitant, uncoordinated movements, exaggerated stepping of the hind limbs, and reduced fertility in males. In a complementation test and by genetic mapping we have shown here that hesitant and jittery are allelic. Using several large intersubspecific backcrosses and intercrosses we have genetically mapped ji near the marker Amh and microsatellite markers D10Mit7, D10Mit21, and D10Mit23. The linked region of mouse Chromosome 10 is homologous to human 19p13.3, to which several human ataxia loci have recently been mapped. By excluding genes that map to human 21q22.3 (Pfkl) and 12q23 (Nfyb), we ...
Dose measurements were performed in several body regions of patients suffering from inflammatory degenerative diseases (humeral epicondylitis, humeroscapular periarthritis, gonarthrosis, axillary hidradenitis, rheumatoid arthritis, coxarthrosis, parotitis). The problem of the radiation induction of neoplasms is predominant concerning somatic as well as genetic risk, discussed by example of the most frequently occurring organ cancer. Compared to the rate of breast cancer in the highly developed industrial states (5,000 to 6,000 cancers/100,000 women) the 'radiation induction' calculated according to a mathematical model of ICRP 26 (1.25 cases of death for breast cancers/100,000 women following for example irradiation of epicondylitis) is behind several powers of ten and not demonstrable. The genetic radiation exposure is also low. Derived from the measurements it is wrong to give up reliable and approved indications of ...
There is very little known about the long-term evolution of the MHC and MHC-like molecules. This is because both the theory (the evolutionary questions and models) and the practice (the animals systems, functional assays and reagents to identify and characterize these molecules) have been difficult to develop. There is no molecular evidence yet to decide whether vertebrate immune systems (and particularly the MHC molecules) are evolutionarily related to invertebrate allorecognition systems, and the functional evidence can be interpreted either way. Even among the vertebrates, there is great heterogeneity in the quality and quantity of the immune response. The functional evidence for T-lymphocyte function in jawless and cartilagenous fish is poor, while the bony fish seem to have many characteristics of a mammalian immune system. The organization and sequence of fish Ig genes also indicate that important events in the evolution of the immune system and the MHC ...
The Chediak-Higashi syndrome (CHS) is a severe autosomal recessive condition, features of which are partial oculocutaneous albinism, increased susceptibility to infections, deficient natural killer cell activity, and the presence of large intracytoplasmic granulations in various cell types. Similar genetic disorders have been described in other species, including the beige mouse. On the basis of the hypothesis that the murine chromosome 13 region containing the beige locus was homologous to human chromosome 1, we have mapped the CHS locus to a 5-cM interval in chromosome segment 1q42.1-q42.2. The highest LOD score was obtained with the marker D1S235 (Z{sub max} = 5.38; {theta} = 0). Haplotype analysis enabled us to establish D1S2680 and D1S163, respectively, as the telomeric and the centromeric flanking markers. Multipoint linkage analysis confirms the localization of the CHS locus in this interval. Three YAC clones were found to cover the ...
Recent organic geochemical studies differ radically in their interpretation of the origin of the Gulf coast oils. However all studies since (and including) Thompson, et al. 1989, emphasize the considerable geographic variation in genetic oil types and are in generalized agreement as to the genetic oil types present and their spatial and stratigraphic relationships. In particular it is accepted that the Gulf rim (both north and south) is encircled by a ring of Mesozoic carbonate-sourced oils and that there is also at least one major deep water trend of carbonate-sourced oils in the northern Gulf. It is also generally agreed that many of the Gulf rim oils are of Oxfordian-Kimmeridgian age, though some, like the Sunniland oils of Florida, are of lower Cretaceous origin. Major disagreement still occurs over the sources of the Louisiana offshore oils and onshore Wilcox reservoired oils. One {open_quotes}school of ...
Phosphoro-uraniferous deposit of Itataia is situated in Precambrian metamorphic terrains, into the litho-stratigraphic unit named Caico Complex. Regionally, the rocks are linearly folded, as a result of compressive tectonic that fits in the regmatic pattern. Rio Groairas' and Itatira's wrench faults form shearing couples in which the drag folds' climax are thrusting faults with axial plane dipping north. Uranium mineralization occurs into a phosphatic rock containing about 80% of collophane - 'collophanite - in association chiefly with marbles or feldsphatic rocks and gneisses. The ore (collophanite) occurs mainly as a stockwork, and it may be massive, (into big joints) or disseminated (impregnating the host rocks). Dark ore appears only in brecciated zones; it is richer in uranium content, but poorer in phosphorous. The highest grade ore is in a very fractured zone, associated to marbles. Supergene enrichment took place in this area. ...
Computers have a direct impact on our lives nowadays. Human's interaction with the computer has modified with the passage of time as improvement in technology occurred the better the human computer interaction became. Today we are facilitated by the operating system that has reduced all the complexity of hardware and we undergo our computation in a very convenient way irrespective of the process occurring at the hardware level. Though the human computer interaction has improved but it's not done yet. If we come to the future the computer's role in our lives would be a lot more rather our life would be of the artificial intelligence. In our future the biggest resource would be component of time and wasting time for a key board entry or a mouse input would be unbearable so the need would be of the computer interaction environment that along with the complexity reduction also minimizes ...
Objectives: The purpose of this work was to study the genetic determinants responsible for extended-spectrum beta-lactamase (ESBL) resistance of Salmonella isolated from Dutch poultry, poultry meat and hospitalized humans. Methods: Thirty-four ESBL-resistant Salmonella isolates from The Netherlands were tested towards 21 antimicrobial agents. PCR and sequencing were used to determine the underlying genetic determinants responsible for the ESBL phenotypes. The transferability of the ESBL phenotypes was tested by conjugation to a susceptible Salmonella enterica serovar Dublin and plasmid purification, restriction fragment length polymorphism (RFLP) and pulsed-field gel electrophoresis (PFGE) were employed to further characterize a subset of the isolates. Results: A great genetic diversity was seen among the isolates. The bla(TEM-52) gene was most predominant and was found among Salmonella enterica ...
Abstract Bartonella are arthropod-borne, fastidious, Gram-negative, and aerobic bacilli distributed by fleas, lice, sand flies, and, possibly, ticks. The zoonotic Bartonella species, Bartonella henselae and Bartonella clarridgeiae, which are the causes of cat scratch disease and endocarditis in humans, have been reported from cats, cat fleas, and humans in Australia. However, to date, there has been no report of B. henselae or B. clarridgeiae in Australian wild animals and their ectoparasites. B. henselae and B. clarridgeiae were detected in fleas (Ctenocephalides felis) from red foxes (Vulpes vulpes), an introduced pest animal species in Australia, and only B. clarridgeiae was detected in blood from one red fox. Phylogenetic analysis of the ribosomal intergenic spacer region revealed that the B. henselae detected in the current study were related to B. henselae strain Houston-1, a major pathogenic strain in humans in ...
Retroelements constitute a large part of the human genome. These sequences are mostly silenced in normal cells, but genome-wide DNA hypomethylation in cancers might lead to their re-expression. Whether this re-expression really occurs in human cancers is largely unkown. We therefore investigated expression and DNA methylation of several classes of retroelements in human prostate cancer tissues and cell lines by quantitative reverse transcription-polymerase chain reaction and pyrosequencing, respectively. The most striking finding was strong and generalized increased expression of the HERV-K_22q11.23 provirus in cancers, including de novo expression of a spliced accessory Np9 transcript in some tumors. In parallel, DNA methylation in the long terminal repeat (LTR) decreased. Conversely, HER...
The term {open_quotes}hazardous{close_quotes} waste is used primarily in reference to potential hazards to human health and, to a lesser decree, hazards to wildlife and the ecosystem. Many of the chemicals associated with hazardous waste sites are also widely distributed throughout the environment; therefore, the health hazards associated with hazardous waste sites are not different from those associated with general environmental contamination. Until recently, it was generally assumed that cancer was the human disease of greatest concern associated with toxic chemicals. In fact, most governmental regulations related to exposure are designed on the basis of presumed cancer risks. Since the evidence that hazardous chemicals can cause cancer is strong, it is appropriate to be concerned about cancer risk. Recent evidence, however, has triggered a reevaluation of the assumption that only cancer is of concern. New evidence suggests that noncancer ...
DescriptionBoth wild and aquaculture reared abalone, mussels and other shellfish of commercial importance as a food resource to man can be afflicted by poisoning if they feed on toxic species of small single-celled planktonic marine algae. If humans consume these shellfish that have become intoxicated by HAB's, illness or even death may occur. HAB's occur world-wide, but some regions are more severely affected than others. The incidence of HAB's also appear to be on the increase globally, perhaps because o [continued...
Genetics, Genomics, and Molecular Biology USGS scientists develop and integrate new genetic and molecular techniques into systematic analyses to describe individuals and populations of fish .....
Organohalogen compounds such as polychlorinated biphenyls (PCB) and polybrominated diphenyl ethers (PBDE) are global environmental pollutants and highly persistent, bioaccumulative chemicals that produce adverse effects in humans and wildlife. Because of the widespread use of these organohalogens in household items and consumer products, indoor contamination is a significant source of human exposure, especially for children. One significant concern with regard to health effects associated with exposure to organohalogens is endocrine disruption. Toxicological studies on organohalogen pollutants primarily focused on sex steroid and thyroid hormone actions, and findings have largely shaped the way one envisions their disruptive effects occurring. Organohalogens exert additional effects on oth...
Three normal human diploid cell strains were transfected with an activated Ha-ras oncogene (EJ ras) or SV40 T-antigen. Multiple clones were examined for morphological alterations, growth requirements, ability to grow under anchorage independent conditions, immortality and tumorigenicity in nude mice. Clones expressing SV40 T-antigen alone or in combination with ras protein p21 were significantly radioresistant as compared with their parent cells or clones transfected with the neo gene only. This radioresistant phenotype persisted in post-crisis, immortalized cell lines. These data suggest that expression of the SV40 T-antigen but not activated Ha-ras plays an important role in the radiosensitivity of human diploid cells. The radioresistant phenotype in SV40 T transfected cells was not related to the enhanced level of genetic instability seen in pre-crisis and newly immortalized cells, nor to the process of immortalization ...
Taeniasis has been known as one of the prevalent parasitic infections in Korea. Until recently, Taenia saginata had long been considered a dominant, and widely distributed species but epidemiological profiles of human Taenia species in Korea still remain unclear. In order to better understand distribution patterns of human Taenia tapeworms in Korea, partial nucleotide sequences of mitochondrial cox1 and ITS2 (internal transcribed spacer 2) were determined, along with morphological examinations, on 68 Taenia specimens obtained from university museum collections deposited since 1935. Genomic DNA was extracted from formalin-preserved specimens. Phylogenetic relationships among the genotypes (cox1 haplotype) detected in this study were inferred using the neighbor-joining method as a tree building method. Morphological and genetic analyses identified 3 specimens as T. solium, 51 specimens as T. asiatica, and 14 specimens as T. ...
Tissue factor pathway inhibitor (TFPI), a protease inhibitor that circulates in association with plasma lipoproteins (VLDL, LDL and HDL), helps to regulate the extrinsic blood coagulation cascade. The authors have cloned a 125-kb genomic region containing the entire human TFPI gene on six overlapping cosmids and prepared a restriction map of this contig to clarify gene structure. More than half (45 kb) of the 85-kb gene is occupied with 5[prime] noncoding elements: coding begins at exon 3. A HindIII RFLP identified with one cosmid was genotyped in the CEPH panel of 559 reference families. Linkage analysis using markers on human chromosome 2 located the TFPI gene on 2q, 36 cM proximal to D2S43(pYNZ15) and 13 cM distal to the crystalline [gamma]-polypeptide locus CRYGP1(p5G1). 31 refs., 3 figs., 3 tabs.
The heterokaryotic and vegetative diploid phases of Magnaporthe grisea, a fungal pathogen of grasses, have been characterized. Hyphal tip cells and conidia (vegetative spores) taken from these heterokaryons are auxotrophs with phenotypes identical to one or the other of the parents. M. grisea heterokaryons have completely septate hyphae with a single nucleus per cell. Heterokaryons have been utilized for complementation and dominance testing of mutations that affect nutritional characteristics of the fungus. Heterokaryons growing on minimal medium spontaneously give rise to fast-growing sectors that have the genetic properties expected of unstable heterozygous diploids. In fast-growing sectors, most hyphal tip cells are unstable prototrophs. The conidia collected from fast-growing sectors include stable and unstable prototrophs, as well as auxotrophs that exhibit a wide range of phenotypes, including many recombinant classes. Genetic linkage in ...
Estimations on the somatic and genetic effects of small doses of ionizing radiations in Man have been proposed by the Advisory Committee on the Biological Effects of Ionizing Radiation, set up by the U.S. National Academy of Sciences. They have been published in an important report, issued in 1972, from which we briefly analyze here the Chapter dealing with the somatic effects. Small doses of raditions are expected to promote only carcinogenic effects. After a rapid survey of the human experience on which the estimations are based, as regards the latent period of cancers, the plateau region (period of high risk) and the absolute and relative risk expressed per rem, per 10"6 persons, per year, for leukaemia (having the highest risk) and for the ''other cancers''. These estimations were obtained by linear extrapolation to the 1 rem level from observations made after irradiation at relatively high dose levels and much higher dose-rates. This ...
Transparency is essential for normal corneal function. Recent studies suggest that corneal cells express high levels of so-called corneal crystallins, such as aldehyde dehydrogenase (ALDH) and transketolase (TKT) that contribute to maintaining cellular transparency. Stromal injury leads to the appearance of repair phenotype keratocytes, the corneal fibroblast and myofibroblast. Previous studies on keratocytes from species such as bovine and rabbit indicate that the transformation from the normal to repair phenotype is accompanied by a loss of corneal crystallin expression, which may be associated with loss of cellular transparency. Here we investigated if a similar loss occurs with human keratocyte repair phenotypes. Human corneal epithelial cells were collected by scraping and keratocytes...
BackgroundWith a growing number of genetic tests becoming available to the health and consumer markets, genetic health care providers in Canada are faced with the challenge of developing...Full Text Available
Smooth muscle cell (SMC) proliferation and migration are key processes that occur in the pathogenesis of atherosclerosis and post-angioplasty restenosis. In the present study, we designed locked nucleic...Full Text Available
Nonthyroidal illness syndrome (NTIS) is a state of low serum 3,5,3′ triiodothyronine (T3) that occurs in chronically ill patients; the degree of reduction in T3 is associated...Full Text Available
Computed tomographic findings in developmental brain anomalies are more easily classified when the system used is based on embryogenesis related to morphology. Analysis of computed tomographic findings in a series of 154 patients with brain anomalies (Chiari malformation not included) revealed that specific examples of abnormalities occurring in major stages of brain development may be recognized by computed tomography. This paper deals with a group of patients with abnormalities that reflect a disturbance in neuronal migration. (orig.).
Resistance to the extended-spectrum cephalosporins can occur in Salmonella species via the production of extended-spectrum and AmpC β-lactamases. We describe human infections...Full Text Available
BackgroundAberrant CD40 ligand (CD154) expression occurs on both T cells and B cells in human lupus patients, which is suggested to enhance B cell CD40 signaling and play a role...Full Text Available
Swollen basiodiospores of an adenine auxotroph of Phanerochaete chrysosporium were protoplasted with Novozyme 234 and transformed to prototrophy by using a plasmid containing the gene for an adenine biosynthetic enzyme from Schizophyllum commune. Transformation frequencies of 100 transformants per {mu}g of DNA were obtained. Southern blot analysis of DNA extracted from transformants demonstrated that plasmid DNA was integrated into the chromosomal DNA in multiple tandem copies. Analysis of conidia and basiodiospores from transformants demonstrated that the transforming character was mitotically and meiotically stable on both selective and nonselective media. Genetic crosses between double mutants transformed for adenine prototrophy and other auxotrophic strains yielded Ade{sup {minus}} progeny, which indicated that integration occurred at a site(s) other than the resident adenine biosynthetic gene.
Summary Despite the great interest of red porgy as a new species for Mediterranean aquaculture, its commercial production is constrained by the high incidence of skeletal deformities occurring in this species under culture conditions. Several studies have been conducted to better understand the origin of these anomalies in this species, using different system intensiveness, rotifers enrichment products or rotifers docosahexaenoic acid content. The first study showed that culture intensification increased the number of fish with an extra vertebrae, what was probably related to the different nutritional quality of live preys employed in each treatment, since water temperature, salinity and genetic background were identical for the different batches of fish studied. Total incidence of skeleta...
A 38 year old male dentist developed an oligodendroglioma of the left medial temporal lobe and parasellar region 12 years after radiotherapy with 6600 rads for acromegaly. The 30 cases of radiation-induced gliomas reported in the English literature are reviewed and analysed. The criteria for defining radiation-induced tumours of the central nervous system are proposed as follows: the tumour has a long quiescent ''latency period'', a location in the previously irradiated field, a verified histological difference from a primary condition, and does not arise from a primary condition associated with a genetic syndrome such as neurofibromatosis or tuberous sclerosis. The reported case fulfilled these criteria but appears to be the only reported radiation-induced oligodendroglioma.
Abstract Aim- According to the revised Bethesda Guidelines, colorectal cancer (CRC) occurring under age 50-years should be screened to exclude Lynch syndrome. However, in current practice in East Anglia, tumour screening is initiated only after genetics referral, reserved for those with a strong pedigree. This study aimed to determine how many patients with young-onset CRC undergo tumour screening in hospitals in East Anglia. Method- A retrospective case notes review over 5-years in four hospitals was undertaken to determine what proportion of those with young-onset CRC underwent referral for tumour screening and to assess local practices in terms of patient counselling and management. Results- One hundred and twenty-two patients were included. There was an average yearly caseload of 6-9 p...
This essay reviews key controversies in the history of the Darwinian research tradition: the Wilberforce-Huxley debate in 1860, early twentieth-century debates about the heritability of acquired characteristics and the consistency of Mendelian genetics with natural selection; the 1925 Scopes trial about teaching evolution; tensions about race, culture, and eugenics at the 1959 centenary celebration Darwin?s Origin of Species; adaptationism and its critics in the Sociobiology debate of 1970s and, more recently, Evolutionary Psychology; and current disputes about Intelligent Design. These controversies, I argue, are etched into public memory because they occur at the emotionally charged boundaries between public-political, technical-scientific, and personal-religious spheres of discourse. Ov...
Immune thrombocytopenic purpura (ITP), Guillain-Barre syndrome (GBS), and Hashimotos thyroiditis (HT) are autoimmune disorders caused by impaired self-tolerance mechanisms triggered by interaction between genetic and environmental factors. ITP is an immune-mediated destruction of platelets resulting in mucocutaneous bleeding, GBS is an ascending motor paralysis caused by an inflammatory demyelination of peripheral nerves, and HT is characterized by autoimmune-mediated destruction of the thyroid gland. The concurrent development of ITP and GBS has only rarely been reported in the literature, and GBS itself rarely occurs with other autoimmune disorders. We present a 21 year-old patient with known Hashimotos hypothyroidism that simultaneously developed GBS and ITP after an upper respiratory t...
Abstract One of the most significant problems in industrial bioprocessing of recombinant proteins using engineered mammalian cells is the phenomenon of cell line instability, where a production cell line suffers a loss of specific productivity (qP). This phenomenon occurs with unpredictable kinetics and has been widely observed in Chinese hamster ovary (CHO) cell lines and with all commonly used gene expression systems. The underlying causes (both genetic and physiological) and the precise molecular mechanisms underpinning cell line instability have yet to be fully elucidated, although recombinant gene silencing and loss of recombinant gene copies have been shown to cause qP loss. In this work we have investigated the molecular mechanisms underpinning qP instability over long-term sub-cult...
November 1989, marked the beginning of a new three-year cycle of DOE grant support, in connection with which the program underwent a major reorganization. This document presents the progress on the three objectives of the present program which are: to isolate by the technique of two-dimensional polyacrylamide gel electrophoresis (2-D PAGE), proteins of special interest because of the relative mutability of the corresponding gene, establish the identity of the protein, and, for selected proteins, move to a characterization of the corresponding gene; to develop a more efficient approach, based on 2-D PAGE, for the detection of variants in DNA, with special reference to the identification of mutations in the parents of the individual whose DNA is being examined; and, to continue an effective interface with the genetic studies on the children of atomic bomb survivors in Japan, with reference to both the planning and implementation of new studies at the molecular level.
This document consist of brief reports prepared by postdoctoral students supported by the project, each describing his accomplishments under the grant. Topics include (1) Malignant Transformation of MSU-1. 1 Cells by Gamma Radiation, (2) Correlation between Levels of ras Expression and Presence of Transformed Phenotypes Including Tumorigenicity, Using a Modulatable Promoter, (3) Relation between Specific rad Oncogene Expression, (4) Correlation of Genetic Changes in Fibroblastic Tumors with Malignancies, (5)Transformation of MSU-1.1 Cells by sis Oncogene, (6) Malignant Transformation of MSU-1.0 Cells, (7) Correlation of Urokinase Plasminogen Activation (mu-PA) with Malignant Phenotype, (8)Two Dimensional Gel Electrophoresis Studies of the Proteins of the Major Cell Strains of the MSU-1 Family of Cells, and (9) Correlation between Proteinase Activity Levels and Malignancy.
Background Identifying susceptibility genes for endophenotypes by studying analogous behaviors across species is an important strategy for understanding the pathophysiology underlying psychiatric disorders. This approach provides novel biological pathways plus validated animal models critical for selective drug development. One such endophenotype is avoidance behavior. Methods In the present study, novel automated registration methods for longitudinal behavioral assessment in home cages are used to screen a panel of recently generated mouse chromosome substitution strains that are very powerful in quantitative trait loci (QTL) detection of complex traits. In this way, we identified chromosomes regulating avoidance behavior (increased sheltering preference) independent of motor activity lev...
Techniques of chemical analysis, amino acid sequencing and autoradiography are being used to study the frequency of incorporation of normally noncoded amino acids into hemoglobins and seminal fluid proteins. We are studying, by the sequencing of radiolabeled proteins followed by the recovery of ["3H] isoleucine phenylthiohydantoin by high-performance liquid chromatography, the frequency at which normally noncoded isoleucine is incorporated into hemoglobin because of base-substitution mutations versus translational errors. Irradiation increases the isoleucine content of human hemoglobin and the frequency of substitution of isoleucine for specific amino acids in rabbit hemoglobin. Studies to date indicate that these techniques have been developed sufficiently for initial analysis of the potential of drugs and environmental pollutants to induce base-substitution mutations in mammalian somatic cells.
Polycyclic aromatic hydrocarbons (PAHs) are combustion products of organic materials, mixtures of which contain multiple known and probable human carcinogens. PAHs occur in indoor and outdoor air, as well as in char-broiled meats and fish. Human exposure to PAHs occurs by inhalation, ingestion and topical absorption, and subsequently formed metabolites are either rendered hydrophilic and excreted, or bioactivated and bound to cellular macromolecules. The formation of PAH-DNA adducts (DNA binding products), considered a necessary step in PAH-initiated carcinogenesis, has been widely studied in experimental models and has been documented in human tissues. This review describes immunohistochemistry (IHC) studies, which reveal localization of PAH-DNA adducts in human tissues, and semi-quantify PAH-DNA adduct levels using the Automated Cellular Imaging System (ACIS). ...
Human Reliability Analysis (HRA) is a very important part of Probabilistic Risk Analysis (PRA), and constant work is dedicated to improving methods, guidance and data in order to approach realism in the results as well as looking for ways to use these to reduce accident frequency at plants. Further, in order to advance in these areas, several HRA studies are being performed globally. Mexico has participated in the International HRA Empirical study with the objective of -benchmarking- HRA methods by comparing HRA predictions to actual crew performance in a simulator, as well as in the empirical study on a US nuclear power plant currently in progress. The focus of the first study was the development of an understanding of how methods are applied by various analysts, and characterize the methods for their capability to guide the analysts to identify potential human failures, and associated causes and performance shaping factors. The HRA ...
Isolation and expansion of neural stem cells (NSCs) of human origin are crucial for successful development of cell therapy approaches in neurodegenerative diseases. Different epigenetic and genetic immortalization strategies have been established for long-term maintenance and expansion of these cells in vitro. Here we report the generation of a new, clonal NSC (hc-NSC) line, derived from human fetal cortical tissue, based on v-myc immortalization. Using immunocytochemistry, we show that these cells retain the characteristics of NSCs after more than 50 passages. Under proliferation conditions, when supplemented with epidermal and basic fibroblast growth factors, the hc-NSCs expressed neural stem/progenitor cell markers like nestin, vimentin and Sox2. When growth factors were withdrawn, proliferation and expression of v-myc and telomerase were dramatically reduced, and the hc-NSCs differentiated into glia and neurons (mostly ...
Continental facies of Scythian-early Anisian age (Buntsandstein) of East of the Paris Basin form the underground gas storage reservoir exploited by Gaz de France in the area of Nancy (east of France). An accurate sedimentological study and the application of Genetic Stratigraphy principles lead to the understanding of the deposition of fluvial, which form the reservoirs, and to the reconstruction of their geometries. The subsurface data are calibrated on outcrops. Three types of fluvial systems (braided, sinuous to straight and anastomosed) are defined. A special focus on anastomosed channels permits to differentiate a proximal and a distal facies. Study of laterally continuous outcrops induces recurrent cycles of thickness, velocity and time variations (few tens to hundred ka). These correspond to the highest frequence stratigraphic units, i.e. parasequences or genetic units. Maximum of channel and levee presentation ...
A hallmark of congestive heart failure (CHF) is the activation of the cardiac endocrine system, in particular atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP). The natriuretic peptides are a group of structurally similar but genetically distinct peptides that have diverse actions in cardiovascular, renal, and endocrine homeostasis. ANP and BNP are of myocardial cell origin and C-type natriuretic peptide (CNP) is of endothelial origin. ANP and BNP bind to the natriuretic peptide-A receptor (NPR-A), which, via 3',5'-cyclic guanosine monophosphate (cGMP), mediates natriuresis, vasodilatation, renin inhibition, antimitogenesis, and lusitropic properties. CNP lacks natriuretic actions but possesses vasodilating and growth inhibiting actions via the guanylyl cyclase-linked natriuretic peptide-B receptor. All three peptides are cleared by the natriuretic peptide-C receptor and degraded by the ectoenzyme neutral endopeptidase 24.11, both of which are ...
Muscular fatigue in the training athlete or military recruit has been hypothesized to cause increased bone strain that may contribute to the development of a stress fracture. Under normal circumstances, muscles exert a protective effect by contracting to reduce bending strains on cortical bone surfaces. In vivo strain studies in dogs show that muscle fatigue following strenuous exercise elevates bone strain and changes strain distribution. However, a similar experiment has yet to be performed in humans. The purpose of this work was to test the hypothesis in humans that strenuous fatiguing exercise causes an elevation in bone strain. It was also hypothesized that this elevation is greater in younger people than in older people due to the decline in muscle strength and endurance that normally occurs with age. To test these hypotheses, strain in the tibiae of seven human volunteers was measured during ...
Full text: DNA rearrangement events leading to chromosomal aberrations are central to ionizing radiation-induced cell death. Although DNA double-strand breaks are probably the lesion that initiates formation of chromosomal aberrations, little is understood about the molecular mechanisms that generate and modulate DNA rearrangement. Examination of the sequences that flank sites of DNA rearrangement may provide information regarding the processes and enzymes involved in rearrangement events. Accordingly, we developed a method using inverse PCR that allows the detection and sequencing of putative radiation-induced DNA rearrangements in defined regions of the human genome. The method can detect single copies of a rearrangement event that has occurred in a particular region of the genome and, therefore, DNA rearrangement detection does not require survival and continued multiplication of the affected cell. Ionizing radiation-induced DNA ...
A Task Group of the International Commission on Radiological Protection (ICRP) has finished a report Biological Effects after Prenatal Irradiation (Embryo and Fetus) which has been approved by the Main Commission and Will be Published. Some new important scientific data shall be discussed in this contribution. During the preimplantation period lethality of the mammalian embryo is the dominating radiation effect. However, in mouse strains with genetic predispositions it has been shown that also malformations can be caused. This effect is genetically determined and its mechanisms is different from the induction of malformations during major organogenesis. Radiation exposures during this prenatal period leads ato an increase of genomic instability of cells in the normal appearing fetuses. These radiation effects can be transmitted to the next generation. A renewed analysis of individuals with severe mental retardation after exposures during the ...
Tert-Butanol is an important intermediate in industrial chemical synthesis, particularly of fuel oxygenates. Human exposure to tert-butanol may occur following fuel oxygenate metabolism or biodegradation. It is poorly absorbed through skin, but is rapidly absorbed upon inhalation or ingestion and distributed to tissues throughout the body. Elimination from blood is slower and the half-life increases with dose. It is largely metabolised by oxidation via 2-methyl-1,2-propanediol to 2-hydroxyisobutyrate, the dominant urinary metabolites. Conjugations also occur and acetone may be found in urine at high doses. The single-dose systemic toxicity of tert-butanol is low, but it is irritant to skin and eyes; high oral doses produce ataxia and hypoactivity and repeated exposure can induce dependence...
l-Carnitine is a critical metabolite indispensable for the metabolism of lipids as it facilitates fatty acid transport into the mitochondrion where b-oxidation occurs. Human astrocytes (CCF-STTG1 cells) and hepatocytes (HepG2 cells) exposed to aluminum (Al) and hydrogen peroxide (H2O2), were characterized with lower levels of l-carnitine, diminished b-oxidation, and increased lipid accumulation compared to the controls. g-Butyrobetainealdehyde dehydrogenase (BADH) and butyrobetaine dioxygenase (BBDOX), two key enzymes mediating the biogenesis of l-carnitine, were sharply reduced during Al and H2O2 challenge. Exposure of the Al and H2O2-treated cells to a-ketoglutarate (KG), led to the recovery of l-carnitine production with the concomitant reduction in ROS levels. It appears that the chann...
We have at hand the tools for development of both a single amino acid substitution and a gene loss type assay for somatic cell mutations in human red cells. We are close to being able to assess the assays as possible means for screening the human population for individuals who may be a risk of acquiring abnormally high frequencies of mutant cells. The cause for such a high frequency of mutant cells could be a prior exposure of the individual to large amount of mutagen, or it could indicate a member of a vulnerable subpopulation that may have poor DNA repair systems. Either of these cases could well be an indication that the particular individual is at high risk that exposure to mutagens could lead to potential pathology. In the near future we expect to determine the reliability of the assays and to perform experiments to confirm the validity of flow cytometry in measuring real somatic mutagenic events that occur in vivo. ...
The purpose of this paper is to relate some of the commonly encountered problems with operational procedures in the nuclear industry and offer practical suggestions for their elimination. The paper is based on recent consultant experience in assisting industry clients with human performance related design and assessment initiatives. Operational procedures are a key part of an integrated system design. Procedures provide the specified instructions for actions people are to undertake in operating a facility to achieve production and safety goals. While organizations continue to make substantial investments in procedure development and maintenance, problems with procedures continue to occur, as evidenced through operating inefficiencies, errors, and events. The paper reviews the role procedures play in facility operations, comments on current development and maintenance practices, discusses the extent of human performance ...
Abstract Mammalian teeth exhibit incremental structures representing successive forming fronts of enamel at varying time scales, including a short daily increment called a cross striation and a long period called a stria of Retzius, the latter of which, in humans, occurs on average every 8-9 days. The number of daily increments between striae is called the repeat interval, which is the same period as that required to form one increment of bone, i.e. the lamella, the fundamental - if not archetypal - unit of bone. Lamellae of known formation time nevertheless vary in width, and thus their measures provide time-calibrated growth rate variability. We measured growth rate variability for as many as 6 years of continuously forming primary incremental lamellar bone from midshaft femur histologic...
Currently, over 30,000 mapped STSs and 27,000 mapped Unigenes (non-redundant, unigene sets of cDNA representing EST clusters) are available for human alone. A total of 44,000 Unigene cDNA clones have been supplied by Research Genetics. Unigenes, or cDNAs are excellent resource for map building for two reasons. Firstly, they exist in two alternative forms -- as both sequence information for PCR primer pairs, and cDNA clones -- thus making library screening by colony hybridization as well as pooled library PCR possible. The authors have developed an efficient and robust procedure to screen genomic libraries with large number of DNA probes. Secondly, the linkage and order of expressed sequences, or genes are highly conserved among human, mouse and other mammalian species. Therefore, mapping with cDNA markers rather than random anonymous STSs will greatly facilitate comparative, evolutionary studies as well as physical map ...
Abstract in english Human organism is interpenetrated by the world of microorganisms, from the conception until the death. This interpenetration involves different levels of interactions between the partners including trophic exchanges, bi-directional cell signaling and gene activation, besides genetic and epigenetic phenomena, and tends towards mutual adaptation and coevolution. Since these processes are critical for the survival of individuals and species, they rely on the existence of a c (more) omplex organization of adaptive systems aiming at two apparently conflicting purposes: the maintenance of the internal coherence of each partner, and a mutually advantageous coexistence and progressive adaptation between them. Humans possess three adaptive systems: the nervous, the endocrine and the immune system, each internally organized into subsystems functionally connected by intraconnections, to maintain the internal ...
Human erythrocyte glucose-6-phosphate is normally quite stable in the presence of 10 #mu#M NADP"+. Certain glucose-6-phosphate dehydrogenase variants lose virtually all their activity at this concentration of NADP"+ but are reactivated by 200 #mu#M NADP"+. Such variants presumably have a defect in their NADP"+-binding site. The authors analyzed the sequence of cDNA or genomic DNA from seven unrelated patients with hemolytic anemia due to the inheritance of variants that are reactivated by NADP"+. Six patients had substitutions of one of three adjacent amino acids, and the seventh patient had another amino acid substitution 23 residues downstream. These amino acids are highly conserved, all being present in rat and all but one being found also in Drosophila. The anomalous electrophoretic behavior of some of the variants can be explained by their loss of ability to bind NADP"+. The conclude that the region in which these mutations occur defines ...
Mouse genetic resources include inbred strains, recombinant inbred lines, chromosome substitution strains, heterogeneous stocks, and the Collaborative Cross (CC). These resources were generated through...Full Text Available
Gene expression data has been used in lieu of phenotype in both classical and quantitative genetic settings. These two disciplines have separate approaches to measuring and interpreting epistasis, which...Full Text Available
Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully...Full Text Available
Greenland is the world's largest island, with an area of 2.2 million square kilometres, 80 % of which is covered by the ice sheet. The climate is Arctic, but as Greenland stretches 2600 km from north to south, there is a huge variability in climate, with temperature decreasing from south to north. Due to the influence of oceanic currents, the west coast is slightly warmer than the east coast. Precipitation also decreases strongly from the south to the north, and also with distance from the coast. Kangerlussuaq is located in the dry, continental area of central west Greenland. The bedrock of Greenland is dominated by Precambrian gneisses, with sedimentary rocks occurring in some areas of East and North Greenland, and smaller areas of basalts. All of Greenland has been glaciated several times and has thus been eroded and shaped by the ice, as it still is at the ice margin. Soils are generally thin, and especially in the gneiss regions rather poor in plant nutrients. ...
BackgroundGenetic predisposition to scrapie in sheep is associated with several variations in the peptide sequence of the prion protein gene (PRNP). DNA-based tests...Full Text Available
Mice are an ideal mammalian model for studying the genetics of aging: considerable resources are available, the generation time is short, and the environment can be easily controlled, an important...Full Text Available
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Hepatitis B virus (HBV) DNA integration has been shown to occur frequently in human hepatocellular carcinomas. The authors have investigated whether common cellular DNA domains might be rearranged, possibly by HBV integration, in human primary liver tumors. Unique cellular DNA sequences adjacent to an HBV integration site were isolated from a patient with hepatitis B surface antigen-positive hepatocellular carcinoma. These probes detected rearrangement of this cellular region of chromosomal DNA in 3 of 50 additional primary liver tumors studied. Of these three tumor samples, two contained HBV DNA, without an apparent link between the viral DNA and the rearranged allele; HBV DNA sequences were not detected in the third tumor sample. By use of a panel of somatic cell hybrids, these unique cellular DNA sequences were shown to be located on chromosome 4. Therefore, this region of chromosomal DNA might be implicated in the ...
Hepatitis B virus (HBV) DNA integration has been shown to occur frequently in human hepatocellular carcinomas. The authors have investigated whether common cellular DNA domains might be rearranged, possibly by HBV integration, in human primary liver tumors. Unique cellular DNA sequences adjacent to an HBV integration site were isolated from a patient with hepatitis B surface antigen-positive hepatocellular carcinoma. These probes detected rearrangement of this cellular region of chromosomal DNA in 3 of 50 additional primary liver tumors studied. Of these three tumor samples, two contained HBV DNA, without an apparent link between the viral DNA and the rearranged allele; HBV DNA sequences were not detected in the third tumor sample. By use of a panel of somatic cell hybrids, these unique cellular DNA sequences were shown to be located on chromosome 4. Therefore, this region of chromosomal DNA might be implicated in the ...
The alpha emitter plutonium-238 ("2"3"8Pu), which is produced in uranium-fueled, light-water reactors, is used as a thermoelectric power source for space applications. Inhalation of a mixed oxide form of Pu is the most likely mode of exposure of workers and the general public. Occupational exposures to "2"3"8PuO_2 have occurred in association with the fabrication of radioisotope thermoelectric generators. Organs and tissue at risk for deterministic and stochastic effects of "2"3"8Pu-alpha irradiation include the lung, liver, skeleton, and lymphatic tissue. Little has been reported about the effects of inhaled "2"3"8PuO_2 on peripheral blood cell counts in humans. The purpose of this study was to investigate hematological responses after a single inhalation exposure of Beagle dogs to alpha-emitting "2"3"8PuO_2 particles and to extrapolate results to humans.
Natural sunlight induces a genotoxic response in cultured CHO cells pre-treated with shale oil retort process water. Near ultraviolet light (NUV) component of the solar spectrum is the apparent radiation responsible for photoactivation. Cultured human skin fibroblasts are acutely sensitive to the genotoxic effects of photoactivated process water. The mutagenic potential of photoactivated process water in human cells is the same as that witnessed for an equivalent killing dose of the potent skin carcinogen FUV. DNA repair processes are involved in modulating genotoxic effects of this photo-induced process. The exact magnitude of the potential health-related and environmental risks resulting from photoactivation of retort process waters and other oil shale by-products is unassessed at this time. Our demonstration that a significant rate of mutation occurs in cultured human cells exposed to high dilutions ...
HEMATOLOGICAL MALIGNANCIES IN HUMANS TYPICALLY INVOLVE TWO TYPES OF GENETIC CHANGES: those that promote hematopoietic cell proliferation and survival (often the result of activation of tyrosine kinases) and those that impair hematopoietic cell differentiation (often the result of changes in transcription factors). The multi-stage erythroleukemia induced in mice by Friend spleen focus-forming virus (SFFV) is an excellent animal model for studying the molecular basis for both of these changes. Significant progress has been made in understanding the molecular basis for the multi-stage erythroleukemia induced by Friend SFFV. In the first stage of leukemia, the envelope protein encoded by SFFV interacts with and activates the erythropoietin (Epo) receptor and the receptor tyrosine kinase sf-Stk in erythroid cells, causing their Epo-independent proliferation, differentiation and survival. In the second stage, SFFV integration into the Sfpi1 locus ...
African bovine trypanosomiasis caused by Trypanosoma sp., is a major constraint on cattle productivity in sub-Saharan Africa. Some African Bos taurus breeds are highly tolerant of infection, but the potentially more productive Bos indicus zebu breeds are much more susceptible. Zebu cattle are well adapted for plowing and haulage, and increasing their tolerance of trypanosomiasis could have a major impact on crop cultivation as well as dairy and beef production. We used three strategies to obtain short lists of candidate genes within QTL that were previously shown to regulate response to infection. We analyzed the transcriptomes of trypanotolerant N'Dama and susceptible Boran cattle after infection with Trypanosoma congolense. We sequenced EST libraries from these two breeds to identify polymorphisms that might underlie previously identified quantitative trait loci (QTL), and we assessed QTL regions and candidate loci for evidence of selective sweeps. The scan of the EST sequences ...
In neurodegenerative conditions such as Alzheimer's and prion disease it has been shown that host genetic background can have a significant effect on susceptibility. Indeed, human genome-wide association studies (GWAS) have implicated several candidate genes. Understanding such genetic susceptibility is relevant to risks of developing variant CJD (vCJD) in populations exposed to bovine spongiform encephalopathy (BSE) and understanding mechanisms of neurodegeneration. In mice, aspects of prion disease susceptibility can be modelled by examining the incubation period following experimental inoculation. Quantitative trait linkage studies have already identified multiple candidate genes; however, it is also possible to take an individual candidate gene approach. Rarb and Stmn2 were selected as candidates based on the known association with vCJD. Because of the increasing overlap described between prion and Alzheimer's diseases ...
Resistance to thyroid hormone (RTH) is an autosomal dominant disease caused by mutations in the human thyroid receptor beta gene on chromosome 3. Individuals with RTH have an increased incidence of attention deficit hyperactivity disorder (ADHD). The purpose of this study was to search for developmental brain malformations associated with RTH. Forty-three subjects (20 affected males [AM], 23 affected females [AF]) with resistance to thyroid hormone and 32 unaffected first degree relatives (18 unaffected males [UM], 14 unaffected females [UF]) underwent MRI brain scans with a volumetric acquisition that provided 90 contiguous 2 mm thick sagittal images. Films of six contiguous images beginning at a standard sagittal position lateral to the insula were analyzed by an investigator who was blind with respect to subject characteristics. The presence of extra or missing gyri in the parietal bank of the Sylvian fissure (multimodal association cortex) and multiple Heschl`s ...
Remotely-operated SHRIMP dating of zircon is an interesting alternative for dating of zircon crystals. Although it does not represent any technical progress of the geochronological method using the U-Pb system in zircon it is a very useful and cheap facility. The procedure was first used for mass spectrometric analyses involving two international laboratories in Sao Paulo, Brazil and Beijing, China. It was applied to samples of three gneiss-migmatitic rocks from the Ita quarry in the Atuba Complex (located between the Luis Alves and the Apiai Domain) to test previous controversial hypotheses about its evolution. The presence of important archaean and paleo proterozoic components in the complex is confirmed by analyses of zircon found in probably neo proterozoic leucosomes. Diorite intrusion also occurred during the neo proterozoic, associated with the 0.6Ga continental collisions involved in the assembly of Gondwana. The determination of Hf isotope ratios by ...
Reference is made to Cheng and Leblond (Amer. J. Anat.; 141:537 (1974)) who used tritiated thymidine to kill cells synthesising DNA in the crypts of the small intestine. Amongst their findings was that very low doses caused measurable cell killing and that the killing was not random throughout the crypt but occurred selectively at the crypt base where stem cells are presumably located. It is here reported that the presence of hypersensitive cells at the base of the crypts can be demonstrated after whole-body X- or gamma-irradiation, and the time sequence for the production and loss of the killed cells is described together with their dose-response relationship. The studies were conducted on mice. The data were expressed as surviving rather than killed cells, and it was established that the crypt are amongst the most sensitive of mammalian cells. The mechanism by which these sensitive cells are killed is not known, but DNA damage can be detected. The vital stem ...
Microbial degradation of aromatic hydrocarbons has been studied with the aim of developing applications for the removal of toxic compounds. Efforts have been directed toward the genetic manipulation of mesophilic bacteria to improve their ability to degrade pollutants, even though many pollution problems occur in sea waters and in effluents of industrial processes which are characterized by low temperatures. From these considerations the idea of engineering a psychrophilic microorganism for the oxidation of aromatic compounds was developed.In a previous paper it was demonstrated that the recombinant Antarctic Pseudoalteromonas haloplanktis TAC125 (PhTAC/tou) expressing a toluene-o-xylene monooxygenase (ToMO) is able to convert several aromatic compounds into corresponding catechols. In our work we improved the metabolic capability of PhTAC/tou cells by combining action of recombinant ToMO enzyme with that of the endogenous P. haloplanktis ...
Abstract SLC9A9 (solute carrier family 9, member 9, also known as Na+/H+ exchanger member (NHE9)) is a membrane protein that regulates the luminal pH of the recycling endosome, an essential organelle for synaptic transmission and plasticity. SLC9A9 has been implicated in human attention deficit hyperactivity disorder (ADHD) and in rat studies of hyperactivity. We examined the SLC9A9 gene sequence and expression profile in prefrontal cortex, dorsal striatum and hippocampus in two genetic rat models of ADHD. We report two mutations in a rat model of inattentive ADHD, the WKY/NCrl rat, which affect the interaction of SLC9A9 with calcineurin homologous protein (CHP). We observed an age-dependent abnormal expression of SLC9A9 in brains of this inattentive model and in the Spontaneous Hypertensi...
An on-line cell disruption system for at-line monitoring of the intracellular concentration of recombinant human superoxide dismutase (rhSOD) in a genetically modified Escherichia coli strain, HMS174(DE3) (pET11a/rhSOD), in bioreactor cultivations is described. The sampled bacteria were disrupted on-line by rapid mixing with a nonionic detergent. The recombinant protein content of the lysed bacterial sample was quantitated by a subsequent surface plasmon resonance biosensor with a specific monoclonal antibody. Extraction efficiency of the monitoring system was optimized with respect to the flow rate ratio of the cell suspension and the detergent at relevant cell densities with the aim to attain rapid monitoring. Monitoring was demonstrated for a shake flask culture and a glucose-limited fed-batch cultivation. The results are compared with a traditional enzyme-linked immunosorbent assay method showing a correlation coefficient of R2 = 0.97. ...
Scientists have just taken a big step toward understanding the cause of Lou Gehrig's disease, one of the most devastating nerve degenerative diseases. A large team of researchers, led by Robert Brown Jr. of Harvards's Massachusetts General Hospital and Robert Horvitz, a Howard Hughes Medical Institute investigator at the Massachusetts Institute of Technology, report in the 4 March Nature that they've identified the gene that causes a hereditary form of the condition, which also goes by the name amyothophic lateral sclerosis (ALS). While most ALS cases - approximately 90% - are apparently sporadic' and not caused by an inherited gene defect, all the patients have such similar symptons that researchers are hopeful that what they learn about hereditary ALS will also apply to the sporadic form, possibly leading to new therapeutic strategies that will help both. It's a very important finding,' says neurobiologist Donald Harter of the ...
Measuring gene expression using microarrays is relevant to many areas of biology and medicine, such as follow up of developmental stages and diseases onset, and treatment study. Since there can be tens of thousands of distinct probes on an array, each micro array experiment can accomplish the equivalent number of genetic tests in parallel. Arrays have therefore dramatically accelerated many types of investigations. For example, microarrays can be used to identify stress response genes by comparing gene expression in challenged versus normal cells. In the Molecular and Cellular Biology lab (MCB), the micro array experiments are performed within the Genomic Platform, fully equipped to analyse either the behaviour of bacteria during long space flight, the effect of low dose ionising radiation on the developing organism in mice, or the human individual radiation sensitivity. For the low dose effect, two main stages of development are of interest; ...
This report concerns investigations in the title conducted by 8 groups of National Institute of Radiological Sciences (NIRS) during the period of 1998-2000. The groups are for investigation of: Effects of p53 tumor suppressor gene in radiation-induced leukemia, Role of atm-gene in dose rate effect of ionizing radiation, Function of DNA-dependent protein kinase catalytic subunit (DNA-PK{sub cs}), Functional complementation of radiation-sensitive mutant M10 cell line by human XRCC4 cDNA expression, Role of radiation-induced apoptosis in digital defects in embryonic mice, Functional analysis of S-phase specific novel nuclear protein NP95 by gene targeting, Role of chemokine in T cell development and lymphomagenesis, and establishment of production techniques of gene-modified mice using embryonic stem cells for genetic analysis of radiation-sensitive genes. The groups describe summaries of their studies and published original articles are also ...
Population doses from diagnostic and therapeutic uses of radiopharmaceuticals have been estimated on the basis of a nation wide survey data on the number of investigations and treatments used radiopharmaceuticals in the nuclear medicine and the annual amount of their activities. The gonad and marrow doses were calculated from published biokinetics data from humans, employing the MIRD method. The resultant annual genetically significant dose from diagnostic and therapeutic uses of radiopharmaceuticals was 0.36 and 0.02 mrad (3.6 and 0.2 #mu#Gy) per person, respectively, with a total 0.38 mrad (3.8 #mu#Gy) per person. The annual per Caput mean bone marrow dose was 2.3 mrad (23 #mu#Gy) for diagnosis and 0.2 mrad (2 #mu#Gy), for therapy. The resultant annual leukemia significant dose was 1.8 mrad (18 #mu#Gy) per person for diagnostic uses and 0.2 mrad (2 #mu#Gy) per person for therapeutic use, with a total of 2.0 mrad (20 #mu#Gy) per person. These ...
Stem cell research has important implications for medicine. The source of stem cells influences their therapeutic potential, with stem cells derived from early-stage embryos remaining the most versatile. Somatic cell nuclear transfer (SCNT), a source of embryonic stem cells, allows for understandings about disease development and, more importantly, the ability to yield embryonic stem cell lines that are genetically matched to the somatic cell donor. However, SCNT requires women to donate eggs, which involves injection of ovulation-inducing hormones and egg retrieval through laparoscopy or transvaginal needle aspiration. Risks from this procedure are fiercely debated, most notably risk of ovarian hyperstimulation syndrome (OHSS). This review examines risk of OHSS resulting from oocyte donation. We conclude that risk posed by OHSS in egg donation is not significant enough to warrant undue concern, and much of this can be eliminated when proper precautions are taken. ...
BackgroundCotton, with a large genome, is an important crop throughout the world. A high-density genetic linkage map is the prerequisite for cotton genetics and breeding. A genetic...Full Text Available
Studies of various established human bladder and renal carcinoma cell lines cultured in vitro demonstrated the presence of specific, saturable, high affinity binding sites for /sup 125/I-labeled human interferon Beta ser IFN-beta ser). This recombinant produced interferon labeled with approximately one atom of /sup 125/I/molecule of IFN expressed minimal or no loss of antiviral activity. A single class of binding sites (1000-2000/cell) with an affinity constant of 10(10)-10(11) L/M was measured at 4 degrees C for cells exhibiting widely different sensitivity to the antiproliferative effect of IFN-beta ser. Major fluctuations in the binding of /sup 125/I-labeled IFN-beta ser to cellular receptors were observed during in vitro proliferation of four of five cell lines examined. A significant decrease (P less than 0.001) in specific binding was observed 48 h after cultures were established. Cell cycle analysis suggested that within the first 24 h ...
In the safety assessment of a high-level radioactive waste (HLW) disposal system, it is required to estimate radiological impacts on future human beings arising from potential radionuclide releases from a deep repository into the surface environment. In order to estimate the impacts, a biosphere model is developed by reasonably assuming radionuclide migration processes in the surface environment and relevant human lifestyles. Releases from the repository might not occur for many thousands of years after disposal. Over such timescales, it is anticipated that the considerable climatic change, for example, induced by the next glaciation period expected to occur in around ten thousand years from now, will have a significant influence on the near surface environment and associated human lifestyles. In case of taking these evolution effects into account in modeling, it is reasonable to ...
Previous karyotypic studies have indicated a possible series of non-random chromosomal events involved in the progression of melanoma. We sought to define a model of melanocyte tumorigenesis by studying allelic deletions of polymorphic simple tandem repeat markers mapping to chromosome 1, 6q, 7, 9p, 10, 11, 17, and 21 in thirty matched pairs of melanoma and constitutional DNAs. The most frequent and earliest deletions were found on 9p (57%) and 10q (32%) and with the exception of one case, no sample has loss of markers on another chromosome without concomitant loss of markers on 9p and/or 10q. Losses on 6q were also a frequent (32%) event that sometimes occurred in primary melanomas, whereas losses of loci on distal 1p (26%) or 11q (26%) occurred only in metastic melanomas. A background rate (0-17%) of allele loss was seen on chromosomes 7, 17, and 21. Homozygous deletions in a panel of 31 melanoma cell lines were only detected for markers on ...
A factor produced by plerocercoids of the tapeworm Spirometra mansonoides is similar to human growth hormone (hGH) in that it stimulates body growth, binds to hGH receptors, cross-reacts with anti-hGH antibodies, and has lactogenic and insulin-like activities. The purpose of this study was to determine whether plerocercoid growth factor (PGF) is similar to hGH in expressing diabetogenic activity in the genetically obese (ob/ob) mouse. To determine an effective dose for use in the obese mice, the ability of daily injections of PGF to stimulate growth of phenotypically normal mice of the same strain was assessed in a 10-day weight gain assay. Injections of PGF stimulated a dose-dependent weight gain (r = 0.83) and 25 ng eq/day of PGF stimulated a response not significantly different from that produced by 100 micrograms of bovine growth hormone/day. Diabetogenicity was assessed using fasting blood glucose and glucose tolerance tests in obese mice ...
This research validates a novel approach for source tracking based on denaturing gradient gel electrophoresis (DGGE) analysis of DNA extracted from Escherichia coli isolates. Escherichia coli from different animal sources and from river samples upstream from, at, and downstream of a combined sewer overflow were subjected to DGGE to determine sequence variations within the 16S-23S intergenic spacer region (ISR) of the rrnB ribosomal operon. The ISR was analyzed to determine if E. coli isolates from various animal sources could be differentiated from each other. DNA isolated from the E. coli animal sources was PCR amplified to isolate the rrnB operon. To prevent amplification of all 7 E. coli ribosomal operons by PCR amplification using universal primers, sequence-specific primers were utilized for the rrnB operon. Another primer set was then used to prepare samples of the 16S-23S ISR for DGGE. Comparison of PCR-DGGE results between human and animal sources revealed ...
The most important factor in assessing radiologic risk is ensuring scientific means for evaluation of the radioactive release impact upon humans and organisms. To evaluate quantitatively this impact not only knowledge of radioactivity distribution in these dynamical systems is necessary but also understanding the transfer mechanisms between ecosystem components is needed. Thus a complete radioecologic study appear to be very complex and needs defining the source term, dynamic description of radionuclides behavior in the ecosystem, estimation of radiation doses in the major components of the ecosystem and finally the effects of radiation doses upon different parts of the systems. A diagram of the steps implied in evaluation of the effects due to radioactive effluent release in the environment is presented and discussed. The following steps are described: - identification of radioactive sources, as well as their input rate. Presence of noxious materials such as heavy ...
A new area-wide pest control strategy using the pink bollworm, Pectinophora gossypiella (Saunders) (Lepidoptera: Gelechiidae), genetically transformed with a conditionally lethal gene, is under development. Conditional lethality of several transgenic pink bollworm strains was demonstrated in a series of laboratory rearing experiments. Pink bollworms were transformed with genetic constructs using the RIDL technology (Release of Insects with a Dominant Lethal gene) for development of an autocidal biological control system for possible supplement or replacement of radiation based sterile insect release. LA1124 is a lethal construct controlled by a tetracycline repressible transactivator protein (tTA), in which binding of tTA to its specific target sequence tetO drives production of more tTA. In the absence of tetracycline, this leads to lethality by high expression of tTA. When tetracycline is present, tTA does not bind tetO, and so the positive ...
The interference of hyperthermia and ionizing radiation, respectively, with the effects of capric (10:0), lauric (12:0), myristic (14:0), oleic (cis-18:1) and elaidic (trans-18:1) acids on the osmotic resistance of human erythrocytes was investigated. The results are summarized as follows: (A) not only at 37 degrees, but also at 42 and 47{degrees}C lauric acid (12:0) represents the minimum chain length for the biphasic behaviour of protecting against hypotonic hemolysis at a certain lower concentration range and hemolysis promotion at subsequent higher concentrations; (B) with increasing temperatures the protecting as well as the hemolytic effects occur at lower concentrations of the fatty acids; (C) the increase of temperature promotes the extent of hemolysis and reduces the extent of protection against hypotonic hemolysis; (D) Gamma-irradiation of erythrocytes selectively affects the concentration of oleic acid at which maximum protection ...
Laser devices are currently in widespread use in particular by armed forces for different tasks. Electro-optical sensors as well as unprotected human eyes are extremely sensitive to laser radiation and can be permanently damaged from direct or reflected beams. Laser damage depends on the interaction between the laser beam and the atmosphere in which it traverses. The atmospheric conditions, including the range, terrain features, turbulence, and atmospheric particulates, may alter the laser's effect on different electro-optical devices and systems. When a laser beam passes through the atmosphere the optical turbulence affects the beam. As a result, temporal intensity fluctuations (scintillations) or spatial variations in intensity within a beam cross-section occur. Atmospheric scintillations pose a safety problem because an observer or sensor can be subjected to the risk of a localized irradiance (local focusing effect) much greater than that ...
This study evaluated whether differences in design of 3-dimensional polylactic acid barriers (EPi-Guide and Guidor) would influence hard tissue results in the treatment of Grade II furcations in humans. A multicenter study was conducted, using 40 patients with moderate to advanced bilateral chronic adult periodontitis of the mandibular first or second molars. After flap access, debridement, and root preparation, surgical bone level measurements were taken and membranes were placed on a random basis. Surgical reentry occurred at 1 year. Data collected from all 3 investigative centers were pooled and analyzed using an analysis of variance appropriate for a counterbalancing design. Both barrier materials resulted in significant gains of attachment level and defect reduction. The composite reduction in the vertical component of the osseous defects was greater in the sites treated with Epi-Guide as compared to those treated with Guidor; the ...
When a nuclear power station was installed on the Meuse in central Belgium, the impact of thermal, radioactive, and chemical waste on the water of the Neuse and on its biocenoses was studied. Three successive periods of development of the channel bed and the flood plain in Belgium have occurred, and their hydrological, physicochemical, and ecological consequences have been examined. Since the last century, the ecosystem of the Meuse has undergone, due to the increasing activity of man, modifications of increasing importance: marked reduction of the water flow, a drastic increase in the suspended material being transported, a degree of eutrophication of the water, and the disturbance of the original floral and faunal communities. The causes of this evolution of the Meuse can be itemized as different types of human interference in descending order of importance: (1) occupation of the catchment area; (2) encroachment on the flood plain; (3) ...
Human hair fibers experience tensile forces during grooming and styling processes. The tensile response of hair is hence of considerable interest to the cosmetics industry. In this study, in situ tensile characterization studies have been carried out in an atomic force microscope (AFM) on different hair under different conditions. A custom-built AFM sample stage allows hair fibers to be loaded in tension. A technique to locate and image the same control area at different strains has been developed to study the changes in morphology that occur with deformation. Virgin Caucasian, Asian and African hair were studied to understand the differences between different ethnic hair types. Also, the tensile response and morphological changes of virgin, chemically damaged and conditioner-treated Caucasian hair after soaking were compared against the corresponding dry tensile response. Finally, virgin, damaged and treated Caucasian hair fibers were ...
Microwaves can produce sensations of warmth and sound in humans. In other species, they also can serve as cues, they may be avoided, and they can disrupt ongoing behavior. These actions appear to be due to heat produced by energy absorption. The rate of absorption depends on the microwave parameters and the electrical and geometric properties of the subject. We therefore, cannot predict the human response to microwaves based on data from other animals without appropriate scaling considerations. At low levels of exposure, microwaves can produce changes in behavior without large, or even measureable, changes in body temperature. Thermoregulatory behavior may respond to those low levels of heat, and thereby affect other behavior occurring concurrently. There are no data that demonstrate that behavioral effects of microwaves depend on any mechanism other than reactions to heat. Our interpretation of whether a reported ...
A novel single-chain immunotoxin was constructed by combining a CD33-specific single chain Fv (scFv) antibody fragment with an engineered variant of Pseudomonas exotoxin A (ETA). The variant toxin carries the KDEL peptide at its C-terminus, a cellular peptide mediating improved retrograde transport to the endoplasmic reticulum. The purified recombinant fusion protein induced potent apoptosis of the human myeloid cell lines U937, HL-60 and THP-1. Up to 98% of U937 cells were eliminated after treatment for 72 h with a single dose of 500 ng/ml (c. 7 nmol/l). Killing was antigen-specific and occurred by apoptosis. A control protein, consisting of a CD19-specific scFv antibody fragment fused to the ETA-KDEL toxin, failed to induce death of the CD19-negative cell lines U937, HL-60 and THP-1. The CD33-ETA toxin also mediated apoptosis of fresh patient-derived acute myeloid leukaemia cells from bone marrow and peripheral blood. The pronounced ...
Tungsten, in the form of tungstate, polymerizes with phosphate, and as extensive polymerization occurs, cellular phosphorylation and dephosphorylation reactions may be disrupted, resulting in negative effects on cellular functions. A series of studies were conducted to evaluate the effect of tungsten on several phosphate-dependent intracellular functions, including energy cycling (ATP), regulation of enzyme activity (cytosolic protein tyrosine kinase [cytPTK] and tyrosine phosphatase), and intracellular secondary messengers (cyclic adenosine monophosphate [cAMP]). Rat noncancerous hepatocyte (Clone-9), rat cancerous hepatocyte (H4IIE), and human cancerous hepatocyte (HepG2) cells were exposed to 1-1000 mg/l tungsten (in the form of sodium tungstate) for 24 h, lysed, and analyzed for the ab...
Mood in humans is a complex phenomenon that integrates emotion (e.g. happiness and sadness), cognition, perception, ideation, and action in a coherent manner. In bipolar disorder extremes of mood (up or down) occur outside the normal range, in which all the above functions are coherently affected. Mood is controlled by a series of separate but interactive brain circuits that involve much of the brain, but particularly the limbic system. The question addressed in this paper is whether the coordination of all these separate systems into one coherent functional mood is mediated by non-linear dynamics acting between these systems as equal participants; or whether it is affected by a single master regulator controlling the others. The possible roles, as master regulators, of non-linear dynamica...
Intervertebral disc (IVD) cell apoptosis has been suggested to play an important role in promoting the degeneration process. It has been demonstrated that IVD cell apoptosis occurs through either death receptor, mitochondrial or endoplasmic reticulum (ER) pathway. Our study aimed to explore the relationship among these three pathways and grade of IVD degeneration (IVDD). IVDs were collected from patients with lumbar fracture, vertebral tumor, disc herniation or spondylolisthesis. IVDs were distinguished by MRI and histomorphological examination, cell apoptosis was detected by TUNEL staining. Biomarkers of these three apoptosis pathways were detected by RT-PCR and Western blot. Furthermore, the correlation between apoptosis pathways biomarkers and disc pathology were analyzed. Nucleus pulpo...
Coumarin (1,2-benzopyrone) is occurring in food, and is also used in cosmetics. In order to perform a risk assessment for both oral and dermal exposure, we applied a physiologically based approach to model kinetics in humans by simulating both routes of exposure. The concentration-time profile in liver revealed a higher peak concentration (Cmax-hep) for the oral when compared to the dermal route. The area under the concentration-time curve in the liver (AUChep) was found the same for both routes if the same extent of absorption is assumed. Dose response information from published rat studies were used to identify the metric relevant for liver toxicity. Liver exposure levels resulting from doses and durations as outlined in the studies were simulated in a rat model. We obtained 31 data pair...
A computer-based beam dosimetry measurement system for boron neutron capture therapy provides accurate, sensitive, and rapid readout and recording of all beam dose components, epithermal and thermal neutron flux, and gamma-ray dose rate. This dosimetric system includes input from the characterization of the epithermal neutron beam developed at the Massachusetts Institute of Technology, actual BPA pharmacokinetic data from a specific human subject being irradiated, output of MacNCTPLAN, a treatment planning system developed by the authors group, and input from the five on-line beam detectors. The purpose of this system and associated readout systems is to ensure that the desired dose is delivered to the subject within acceptable dose tolerances, e.g., {+-}5% of the target dose, and that any perturbations in the neutron beam that may occur during irradiation can be rapidly evaluated and the appropriate measures taken.
A computer-based beam dosimetry measurement system for boron neutron capture therapy provides accurate, sensitive, and rapid readout and recording of all beam dose components, epithermal and thermal neutron flux, and gamma-ray dose rate. This dosimetric system includes input from the characterization of the epithermal neutron beam developed at the Massachusetts Institute of Technology, actual BPA pharmacokinetic data from a specific human subject being irradiated, output of MacNCTPLAN, a treatment planning system developed by the authors group, and input from the five on-line beam detectors. The purpose of this system and associated readout systems is to ensure that the desired dose is delivered to the subject within acceptable dose tolerances, e.g., #+-#5% of the target dose, and that any perturbations in the neutron beam that may occur during irradiation can be rapidly evaluated and the appropriate measures taken.
Industrial radiography accounts for approximately half of all the reported accidents for the nuclear related industry, in both developed and developing countries. This Safety Report is the result of a review made of a large selection of accidents in industrial radiography reported by regulatory authorities, professional associations and scientific journals. A small, representative selection of 43 accident descriptions has been used to illustrate the primary causes of radiography accidents, and a set of measures provided to prevent the recurrence of such accidents or to mitigate the consequences of those that do occur. These accident descriptions were categorized by primary causes as follows: inadequate regulatory control; failure to follow operational procedures; inadequate training; inadequate maintenance; human error; equipment malfunction or defect; design flaws; and wilful violation. The information in this Safety report is intended for use ...
Abstract Objective: The aim of this investigation was to compare the healing of laser-irradiated and non-irradiated wounds covered by an occlusive dressing in mice. Background data: Many previous studies of the effects of laser irradiation of experimental wounds in mice and rats did not cover the wounds so that healing occurred mainly by contraction. Healing of covered wounds is slower and mimics more closely wound healing in humans. Materials and Methods: Forty-seven diabetic and twenty non-diabetic mice were used. A single wound (5?mm diameter) was created on the left flank of each animal and covered by Tegaderm HP dressing (Day 1). Wounds were irradiated (660?nm) for 20?s using a lower power (18?mW) or higher power (80?mW) laser starting immediately post-wounding for seven consecutive d...
BackgroundPeritoneal metastasis occurs in up to 30% of patients with gastric cancer. The aim of this experimental study is to develop and validate a novel ex vivo model of the human peritoneum to better identify factors involved in the development of peritoneal metastasis in order to improve its management and prognosis. MethodsPeritoneal discs harvested from hernia sacs obtained at inguinal hernia surgery were suspended in media using Teflon rings. Viability of the tissue was investigated using MTS assay, light and scanning electron microscopy (LM and SEM) over 72 h. To assess validity of the model, phenotypic changes in tumor cells were investigated. Changes in matrix metalloproteinases (MMP)-2 and -9 activities in HGC and AGS gastric adenocarcinoma cells after co-culture were investigat...
Concerns are sometimes expressed about an alleged link between exposure to the extremely low frequency electromagnetic fields occurring in proximity to electricity networks or equipment. Transmission lines are specifically mentioned. The underlying physical mechanisms are described by which electric and magnetic fields exist, with particular reference to high voltage transmission lines. Epidemiological and laboratory studies are the two approaches used in research into the subject and the shortcomings inherent in many such studies and the inconsistencies in the results are mentioned. Some of the more recent epidemiological studies are referred to, also the possible interaction mechanisms between fields and the human body. The work of certain international and national bodies which were established to review the results of research into the alleged association between electromagnetic fields and ill-health are reported. (R.P.)
With appropriate circuit resistance and inductance and sufficient stored energy, discharging a charged human body or component through an exploding bridgewire (EBW) detonator may cause the detonator to function or may damage the detonator. We have studied the effects of electrostatic discharge (ESD) on a number of exploding bridgewire detonators which were subjected to discharges which passed directly through the bridgewires (pin-to-pin), as well as discharges which passed from the bridge to the metal case of the detonator (pin-to-case). We have performed calculations to determine the values of inductance and resistance for which burst and melt may occur for given ESD sources, using a phenomenological model of bridgewire burst in a computer code called FIRESET. Bridge melt was computed using the same computer code, but using experimental values of bridge resistivity and specific heat up to melt. 13 refs., 5 figs.
Occupation of the coast has significantly increased in recent decades, mostly due to a greater demand for recreation and tourism. Today, erosion threatens many human-made structures and activities, requiring an integrated approach for the understanding of coastal dynamics and identification of alternatives to associated problems. This study investigates a 64km-long coastal physiographic unit in the northern microtidal littoral of Tuscany (Italy). Vertical aerial photographs and direct field surveys were used to retrieve changes in shoreline position over 1938-1997 and 1997-2005 time intervals. Significant beach accretion was observed during the first period updrift of Carrara (84m) and Viareggio (280m) harbours and at Marina di Pietrasanta (100m), whereas severe erosion occurred downcoast ...
The amygdala, perhaps more than any other brain region, has been implicated in numerous neuropsychiatric and neurodevelopmental disorders. It is part of a system initially evolved to detect dangers in the environment and modulate subsequent responses, which can profoundly influence human behavior. If its threshold is set too low, normally benign aspects of the environment are perceived as dangers, interactions are limited, and anxiety may arise. If set too high, risk taking increases and inappropriate sociality may occur. Given that many neurodevelopmental disorders involve too little or too much anxiety or too little of too much social interaction, it is not surprising that the amygdala has been implicated in many of them. In this chapter, we begin by providing a brief overview of the phy...
Mutations or multiplications in a-synuclein gene cause familial forms of Parkinson disease or dementia with Lewy bodies (LB), and the deposition of wild-type a-synuclein as LB occurs as a hallmark lesion of these disorders, collectively referred to as synucleinopathies, implicating a-synuclein in the pathogenesis of synucleinopathy. To identify modifier genes of a-synuclein-induced neurotoxicity, we conducted an RNAi screen in transgenic C. elegans (Tg worms) that overexpress human a-synuclein in a pan-neuronal manner. To enhance the RNAi effect in neurons, we crossed a-synuclein Tg worms with an RNAi-enhanced mutant eri-1 strain. We tested RNAi of 1673 genes related to nervous system or synaptic functions, and identified 10 genes that, upon knockdown, caused severe growth/motor abnormalit...
ObjectivesThe development of novel formulations of nanoparticles in the nanotechnology industry and their increasing importance and use in industry means there is certainty of human environmental exposures in both the workplace and the general environment. The pulmonary route of exposure to airborne nanoparticles is a major one, as nanoparticles are handled in industry, escape from workplaces and products containing nanoparticles undergo attrition in the environment. There is a substantial problem for ris [continued...]DescriptionNanoparticles are extremely small particles, each individual particlel being less than one ten millionth of a metre in size. We are exposed to nanoparticles in busy streets as they are present in traffic exhaust produced from combustion of fuel and such nanoparticles are considered to be important in causing the harmful effects associated with exposure to air pollution. There are other situations where nanoparticles are found in the air, ...
Full text: A novel protocol based on electrospray ionization (ESI) multiple stage high capacity ion trap (HCT) mass spectrometry (MS) was developed for glycosphingolipidomic surveys. The method was optimized for detailed structural elucidation of human brain gangliosides and particularly applied to human hippocampus-associated structures. The multiple stage MS experiments allowed for a complete structural characterization of GM1 ganglioside species, which was achieved by elucidation of the oligosaccharide sequence, identification of the GM1 a structural isomer from the data upon sialic acid localization along the sugar backbone and determination of the d18:1/18:0 of fatty acid/sphingoid base composition of the ceramide moiety. The methodology developed here is of general practical applicability for glycolipids and represents a step forward in the implementation of the advanced and most modern MS methods in glycomics. Gangliosides are ...
A crucial step in human breast cancer progression is the acquisition of invasiveness. There is a distinct lack of human cell culture models to study the transition from pre-invasive to invasive phenotype as it may occur 'spontaneously' in vivo. To delineate molecular alterations important for this transition, we isolated human breast epithelial cell lines that showed partial loss of tissue polarity in three-dimensional reconstituted-basement membrane cultures. These cells remained non-invasive; however, unlike their non-malignant counterparts, they exhibited a high propensity to acquire invasiveness through basement membrane in culture. The genomic aberrations and gene expression profiles of the cells in this model showed a high degree of similarity to primary breast tumor profiles. The xenograft tumors formed by the cell lines in three different microenvironments in nude mice ...
Summary The objective of this study was to quantify the genetic diversity among breeds under evaluation for tropical adaptability traits that affect the performance of beef cattle at the USDA/ARS SubTropical Agricultural Research Station (STARS) near Brooksville, FL, USA. Twenty-six microsatellite loci were used to estimate parameters of genetic diversity among the breeds American Brahman, Angus, Senepol and Romosinuano; the latter was comprised of two distinct bloodlines (Costa Rican and Venezuelan). Genotypes of 47 animals from each of these STARS herds were analysed for genetic diversity and genetic distance. Using two methods, the greatest genetic distance was detected between the Costa Rican line of Romosinuano and the Senepol. Gene diversity ranged between 0.64 (Costa Rican line of R...
Because every cell within the body has the same genetic information, a significant problem in biology is to understand how cells within a tissue express genes selectively. A sophisticated network of physical and biochemical signals converge in a highly orchestrated manner to bring about the exquisite regulation that governs gene expression in diverse tissues. Thus, the ultimate decision of a cell to proliferate, express tissue-specific genes, or apoptose must be a coordinated response to its adhesive, growth factor, and hormonal milieu. The unifying hypothesis examined in this overview is that the unit of function in higher organisms is neither the genome nor the cell alone but the complex, three-dimensional tissue. This is because there are bidirectional connections between the components of the cellular microenvironment (growth factors, hormones, and extracellular matrix) and the nucl2048 These connections are made via membrane-bound receptors and transmitted to ...
Heterochromatin constitutes a significant portion of the genome in higher eukaryotes; approximately 30% in Drosophila and human. Heterochromatin contains a high repeat DNA content and a low density of protein-encoding genes. In contrast, euchromatin is composed mostly of unique sequences and contains the majority of single-copy genes. Genetic and cytological studies demonstrated that heterochromatin exhibits regulatory roles in chromosome organization, centromere function and telomere protection. As an epigenetically regulated structure, heterochromatin formation is not defined by any DNA sequence consensus. Heterochromatin is characterized by its association with nucleosomes containing methylated-lysine 9 of histone H3 (H3K9me), heterochromatin protein 1 (HP1) that binds H3K9me, and Su(var)3-9, which methylates H3K9 and binds HP1. Heterochromatin formation and functions are influenced by HP1, Su(var)3-9, and the RNA interference (RNAi) ...
Over the last decade, the use of the zebrafish as a genetic model has moved beyond the proof-of-concept for the analysis of vertebrate embryonic development to demonstrated utility as a mainstream...Full Text Available
Forward and reverse genetic experiments have both played important roles in revealing critical aspects of mammalian signal transduction pathways in cell culture experiments. Only recently have we begun...Full Text Available
Current genome-wide association studies (GWAS) are moving towards the use of large cohorts of primary cell lines to study a disease of interest and to assign biological relevance to the genetic signals...Full Text Available
Although genetic engineering techniques for baker's yeast might improve the yeast's fermentation characteristics, the lack of scientific data on the survival of such strains in natural environments...Full Text Available
Dairy cattle of three genetic lines maintained year round in total confinement (either in loose housing or tie stall barn) were monitored for estrous cycle activity and reproductive performance. Only...Full Text Available
The achievements made in the field of radiation protection over the past 20 years are outlined. Risk analysis as applied to medicine is considered and genetic significant doses, genetic risks, somatic effective doses and somatic risks are discussed. (C.F.).
A computer program, RISK-XLR, which calculates genetic risk for carrier status of a Mendelian X-linked recessive condition has been written for the Macintosh series of microcomputers. The program,...Full Text Available
Plants have too long been ignored as useful screening and monitoring systems of environmental mutagens. However, there are about a dozen reliable, some even unique, plant genetic systems that can increase...Full Text Available
AbstractGenetic-variant analysis of rabies viruses provides the most sensitive epidemiologic tool for following the spread and persistence of these viruses in their wildlife hosts. Since...Full Text Available
Auxin modulates diverse plant developmental pathways through direct transcriptional regulation and cooperative signaling with other plant hormones. Genetic and biochemical approaches have clarified...Full Text Available
BackgroundThe long-term goal of the GKDZI (Genetics of Kidney Disease in Zuni Indians) Study is to identify genes, environmental factors, and genetic-environmental...Full Text Available
Our understanding of the genetic basis of systemic lupus erythematosus (SLE) has been rapidly advanced using large-scale, case–control, candidate gene studies as well as genome-wide...Full Text Available
Mood and anxiety disorders and rodent phenotypic measures modeling these disorders have a strong genetic component. Various assays are used to study the neurobiological basis of fear- and anxiety-related...Full Text Available
BackgroundStress fractures are a significant problem among athletes and soldiers and may result in devastating complications or even permanent handicap. Genetic factors may increase...Full Text Available
We report on genetic identification of ‘whale meat’ purchased in sushi restaurants in Los Angeles, CA (USA) in October 2009 and in Seoul, South Korea in June and September 2009. Phylogenetic...Full Text Available
The genetic architecture of complex traits underlying physiology and disease in most organisms remains elusive. We still know little about the number of genes that underlie these traits, the magnitude...Full Text Available
This is the first report of research for an ongoing study to evaluate the genetic effects of using hatchery-reared fish to supplement natural populations of chinook salmon and steelhead in the Snake River Basin.
Random amplified polymorphic DNA fingerprinting was performed to assess the genetic diversity among rarely cultivated traditional indica rice (Oryza sativa ...Full Text Available
The purpose of this study was to investigate whether genetically determined properties of muscle metabolism contribute to the exceptional physical endurance of world-class distance runners. ATP, phosphocreatine,...Full Text Available
Rumen-cannulated cows (n = 4) were fed successively silage made from either conventional or genetically modified (GM) maize. Results revealed no effects of GM maize on the dynamics...Full Text Available
Nuclear transfer (NT) is a procedure by which genetically identical individuals can be created. The technology of pig somatic NT, including in vitro maturation of oocytes, isolation and treatment of...Full Text Available
This study examined the genetic basis of hypertension and renal disease in Dahl SS/Mcwi (Dahl Salt-Sensitive) rats using a complete chromosome substitution panel of consomic rats in which each of the...Full Text Available
HIV infections show great variation in the rate of progression to disease, and the role of viral genetic factors in this variation had remained poorly characterized until recently. Now a series of four...Full Text Available
Schizophrenia and bipolar disorder are leading causes of morbidity across all populations, with heritability estimates of ∼80% indicating a substantial genetic component. Population genetics...Full Text Available
Based on a literature study an actual summary of the risk-utility problems in X-ray diagnosis is outlined due to the Recommendations of the International Commission for Radiation Protection (ICRP publication 26/1977). Papers demonstrating quantitative assessment of the somatic and genetical risk in X-ray examination are preferably cited and evaluated. It is concluded that the somatic and genetical risk is low in diagnostic ratiology. However, it must not be neglected and has always to be compared to the utility of an examination as well as to other risks of the examination. (author).
...false Guidelines for Human Stem Cell Research Presidential Documents ...2009 Guidelines for Human Stem Cell Research Memorandum for the Heads...scientifically worthy human stem cell research, including human...
Investigated here were the effects of microwave (MW) radiation (2450-MHz, continuous-wave, mean specific absorption rate of 103.5 + or - 4.2 W/kg) and convention heating on the nonphosphorylating oxidative metabolism of human peripheral mononuclear leukocytes (96% lymphocytes, 4% monocytes) at 37 C. Metabolic activity, determined by chemiluminescence (CL) of cells challenged with luminol (5-aminO-2, 3-dihydro-1, 4-phthalazinedione) linked to bovine serum albumin, was detected with a brightness photomer. A significant stimulation after after MW exposure (p < 0.005) over total CL of matched 37 C-incubator controls was observed. A similar degree of stimulation, compared to incubator controls, was also detected after sham treatment. No significant difference existed between changes in total CL or stimulation indices of the MW and sham-exposed groups. Exposure to MW radiation, under normothermic (37 + or - 0.03 C) conditions, appears to have no effect on the ...
Exponentially growing biological and bioinformatics data sets present a challenge and an opportunity for researchers to contribute to the understanding of the genetic basis of phenotypes. Due to breakthroughs in microarray technology, it is possible to simultaneously monitor the expressions of thousands of genes, and it is imperative that researchers have access to the clinical data to understand the genetics and proteomics of the diseased tissue. This technology could be a landmark in personalized medicine, which will provide storage for clinical and genetic data in electronic health records (EHRs). In this paper, we explore the computational and ethical challenges that emanate from the intersection of bioinformatics and healthcare informatics research. We describe the current situation of the EHR and its capabilities to store clinical and genetic data and then discuss the Genetic ...
Genomic instability can be produced by ionising radiation, so-called radiation-induced genomic instability, and chemical mutagens. Radiation-induced genomic instability occurs in both germinal and somatic cells and also in the offspring of irradiated individuals, and it is characterised by genetic changes including chromosomal rearrangements. The majority of studies of trans-generational, radiation-induced genomic instability have been described in the male germ line, whereas the authors who have chosen the female as a model are scarce. The aim of this work is to find out the radiation-induced effects in the foetal offspring of X-ray-treated female rats and, at the same time, the possible impact of this radiation-induced genomic instability on the action of a chemical mutagen. In order to achieve both goals, the quantity and quality of chromosomal damage were analysed. In order to detect trans-generational genomic instability, a total of 4806 ...
A semiquantitative assay was developed and used to measure the effects of immune responses against 16 independent non-H-2 antigenic loci on erythropoietic stem cells. The assay compares repopulation in genetically anemic WBB6F1-W/Wv recipients that have normal immune responses, and in lethally irradiated WBB6F1 +/+ mice whose immune responses are suppressed by the irradiation. The differences in repopulating ability between these two types of recipients measure how immune responses affect erythropoietic stem cells. Stem cell repopulating abilities for the cells with antigens specified by the Thy-1, H-1, H-24, Ly-1, H-37, and H-17 loci were affected slightly, if at all. Repopulating abilities were moderately reduced by responses against antigens specified by H-15, 16, Ea-2, and Ly-2, 3 loci, and against the differences between the B6 and B10 genotypes, although marrow of these types cured W/Wv recipients. A surprising result occurred for the ...
The sterile insect release technique can often be improved by removal of females before release. Rearing efficiencies can also be increased if removal of the females occurs at early developmental stages. In order to begin to develop genetic sexing strains for the pink bollworm, Pectinophora gossypiella (Saunders), it was necessary to determine the best dosage of radiation for induction of viable sex linked recessive lethal mutations and to see if stocks containing induced sex linked lethals could be maintained in culture. Sex linked recessive lethal mutations can be detected by distorted sex ratios in the progeny of treated adults. However, in the pink bollworm, highly distorted sex ratios are common even in the absence of induced mutations. Therefore, a visible sex linked trait, purple eye, was used as a marker for the untreated X-chromosomes in crosses. Thus, the presence of a recessive sex linked lethal mutation induced by the radiation ...
Exposures from most natural and artificial sources, with the exception of those from medical radiology, are received at average dose rates of only a few microsieverts a day. Such risks as may be caused by these exposures are most unlikely to be determined with precision directly by epidemiological studies of populations exposed at these low rates. They may, however, be reliably inferred from the observed risks of exposure to rather larger doses delivered at higher dose rates in the light of the increasing knowledge of the phenomena involved in the initial cellular damage, the extent to which such damage is incorrectly repaired, and the processes which intervene between the genetic or other harm to cells and the likelihood of its final expression in inherited abnormality, in cancer development, or in defective foetal or embryonic growth. Current studies are of great importance, therefore, in examining the circumstances in which coding sections of the chromosomal DNA ...
PCR detection of genetic material of the parasites present in faeces may be an alternative for microscopic and serological tests routinely used for diagnosing parasitic enteral infections. However, small amount of target DNA combined with low efficiency of total DNA extraction, and presence of PCR inhibitors in the samples to be amplified, may cause false negative detection results. The aim of this work was to evaluate the impact of DNA isolation procedure used on the amplification of DNA fragments from the genomes of protozoan Cryptosporidium parvum and the nematode Trichinella spiralis. Two methods based on different principles of biological material lysis were evaluated; NucliSENS miniMAG employing simultaneously applied chemical lysis and mechanical disruption or mechanical disruption followed by enzymatic lysis in case of QIAamp DNA Stool Mini Kit. Both of the analyzed systems for nucleic acids purification allowed isolation of DNA from purified ...
Human endogenous retroviruses (HERVs) are a significant component of a wider family of retroelements that constitute part of the human genome. These viruses, perhaps representative of previous exogenous...Full Text Available
Sufficient genetic diversity exists in Indian tree species to give large genetic gains. Improvement potential, using wild gene resources for selection and breeding is vast as there are over 244 genera and 400 forest tree species in India. Of these over 30 species and 22 genera are of outstanding forestry value. Selective genetic-variation can be lifted from wild populations, multiplied vegetatively or by seed, and planted with controlled germplasm sources. Among the Indian species no less than 74 reproduce by cutting, 11 by layers, 9 by grafting and buding and 104 by root suckers. More than 161 species coppice vigorously. Afforestation techniques of over 170 species have been worked out. Tree genetic approach of survey of natural variability, quick evaluation, selection, conservation multiplication and planting superior variability directly in the field can give immediate genetic ...
Nuclear fuel cycle activities of the former Soviet Union (FSU) have resulted in massive contamination of the environment in western Siberia. We are developing three-dimensional numerical models of the hydrogeology and potential contaminant migration in the West Siberian Basin. Our long-term goal at Pacific Northwest Laboratory is to help determine future environmental and human impacts given the releases that have occurred to date and the current waste management practices. In FY 1993, our objectives were to (1) refine and implement the hydrogeologic conceptual models of the regional hydrogeology of western Siberia developed in FY 1992 and develop the detailed, spatially registered digital geologic and hydrologic databases to test them, (2) calibrate the computer implementation of the conceptual models developed in FY 1992, and (3) develop general geologic and hydrologic information and preliminary hydrogeologic conceptual models relevant to ...
Purpose: In an experimental study, the correlation between the trabecular bone density of the different regions of the proximal femur and the fracture load in the setting of femoral neck fractures was examined. Methods: The bone mineral density 41 random proximal human femora was estimated by single-energy quanitative CT (SE-QCT). The trabecular bone density was measured at the greatest possible extracortical volume at midcapital, midneck and intertrochanteric level and in the 1 cm"3 volumes of the centres of these regions in a standardised 10 mm thick slice in the middle of the femoral neck axis (in mg/ml Ca-hydroxyl apatite). The proximal femora were then isolated and mounted on a compression/bending device under two-legged stand conditions and loaded up to the point when a femoral neck fracture occurred. Results: Statistical analysis revealed a linear correlation between the trabecular bone density and the fracture load for the greater ...
Synthetic musks are used in many consumer products for their pleasant odor and their binding affinity for fabrics. In the early 1990s, polycyclic musks were reported to occur in air, water, sediment, wildlife, and humans from many European countries. Concentrations of polycyclic musks, particularly 1,3,4,6,7,8-hexahydro-4,6,6,7,8,8-hexamethyl-cyclopenta-[?]-2-benzopyr an (HHCB) and 7-acetyl-1,1,3,4,4,6-hexamethyl-1,2,3,4-tetrahydronapthalene (AHTN), have been reported to increase over time in the environment. In this study, concentrations of musks in water, sediment, fish, and mussel were determined from three locations along the upper Hudson River. HHCB and AHTN were detected in water (n?=?5; 3.95?25.8 and 5.09?22.8?ng/L, respectively), sediment (n?=?3; 72.8?388 and 113?544?ng/g, dry weig...
As part of their corporate policy on environmental protection, Chevron, has taken an approach to work collaboratively with other industry members, universities and government agencies in phytoremediation research. The petroleum industry is interested in the integration of phytoremediation with the many biotechnology treatment technologies currently being used by the industry. Phytoremediation is a complex technology that does not just transfer wastes to another site, but offers in-situ final use and disposal treatment at sites anywhere in the world. Sites for potential remediation range from abandoned large refineries, chemical plants, or small urban gas stations. Research has focused on the cleanup of metals and hydrocarbons in diverse types of soil, water and groundwater conditions. This includes research into remediation of petroleum contaminants such as total petroleum hydrocarbon (TPH), polynuclear aromatic hydrocarbons as well as benzene in soil and the mechanism that ...
The authors present arguments against nuclear energy and pro renewable energy sources. Thus, the water used in Uranium mining and primary ore processing becomes contaminated in long lived radioisotopes and so a threat for local ecosystems and communities. Then, during the fabrication, enrichment, and handling of nuclear fuel the workers are exposed to radiations and dangerous accidental radioactive leaks can occur. But, by far, the most menacing aspect of nuclear power exploitation remains the human errors in operating the nuclear plants which can result in major accidents like that from Chernobyl which spread radioactivity all over the Europe. The equipment used in nuclear facilities which is highly contaminated as well as the burned fuel implies transportation and long term storage which also present high risks. The major advantage of the nuclear energy consists in its very low environment impact and its null contribution to the greenhouse ...
Constitutive activation of the oncogenic transcription factor STAT3 frequently occurs in various human malignancies. STAT3 activation involves dimerization via intermolecular pTyr-SH2 interaction. Thus, antagonizing this interaction is a feasible approach to inhibit STAT3 activation for cancer therapy. In order to identify selective STAT3 inhibitors, we developed a biochemical HTS system based on AlphaScreen technology, which measures the abilities of test compounds to antagonize pTyr-SH2 interactions. We screened our chemical libraries using this system and identified 5,15-diphenylporphyrin (5,15-DPP) as a selective STAT3-SH2 antagonist. Selective inhibition of STAT3 nuclear translocation and DNA biding activity was observed in cells treated with 5,15-DPP. IL-6-dependent dimerization of STAT3, c-myc promoter binding and c-myc protein expression were all suppressed by 5,15-DPP, whereas no decrement in either expression or phosphorylation level ...
Bone matrix gelatin, prepared by sequential chemical treatment including decalcification with 0.6 N hydrochloric acid [9], was used as an alloimplant for the treatment of benign bone tumours, tumorous conditions of bone, acetabular dysplasia, delayed union, traumatic bone defects and other disorders. The bone matrix gelatin implanted into bone defects was incorporated successfully in 98% of implantations, excluding cases of infection, tumour recurrence and recurrence of tumorous conditions. The material was also implanted into ten bone sites as an onlay but in five it was resorbed without new bone formation. The incorporation of the bone matrix gelatin into the recipient bed was completed from 6 to 33 months (average 14.9 months) after implantation. Wound infection complicated 5 of 165 implantations (3%) in previously uninfected sites. Low grade fever persisting after the tenth post-operative day (a probable sign of immunological reaction) occurred in 4 of 160 ...
The Department of Energy (DOE) has prepared an environmental assessment (EA), DOE/EA-0804, for the proposed replacement of a deteriorated brine disposal pipeline from the Strategic Petroleum Reserve (SPR) Bryan Mound storage facility in Brazoria County, Texas, into the Gulf of Mexico. In addition, the ocean discharge outfall would be moved shoreward by locating the brine diffuser at the end of the pipeline 3.5 miles offshore at a minimum depth of 30 feet. The action would occur in a floodplain and wetlands; therefore, a floodplain/wetlands assessment has been prepared in conjunction with this EA. Based on the analyses in the EA, DOE has determined that the proposed action is not a major Federal action significantly affecting the quality of the human environment within the meaning of the National Environmental Policy Act (NEPA) of 1969 (42 USC. 4321, et seg.). Therefore, the preparation of an Environmental Impact Statement (EIS) is not required, ...
Rat lung and liver microsomes did not undergo lipid peroxidation in the absence of iron when incubated with NADPH and concentrations of paraquat ranging from 10/sup -7/ to 10/sup -2/ M. Paraquat also did not stimulate rat liver and lung microsomal peroxidation induced by added iron and NADPH, and was inhibitory at concentrations above 10 ..mu..M. Similarly, no stimulation of peroxidation was produced by paraquat in rabbit or human lung microsomes; however, under similar conditions, paraquat enhanced NADPH/iron-dependent peroxidation in mouse lung and liver microsomes obtained from rats sacrificed at 12, 18, and 24 hr following a lethal dose of paraquat (50 mg/kg, ip), there was no loss of vitamin E or increase in susceptibility to in vitro peroxidation which would be expected if lipid peroxidation had occurred in vivo although extensive lung damage developed during this time period. These results indicate that paraquat does not cause pulmonary ...
This report is a survey of the English language literature of radiation biology between 1947 and 1987, for the purpose of compiling a literature base on the effects of radiation on animals, which have yielded results that can expand our knowledge about similar radiation effects on human beings. Articles were sought that reported exposure of adult mammals to external sources of ionizing radiation, having endpoints that included effects on the brain, the spinal cord, and behavior of the gastrointestinal, endocrine, and cardiovascular systems and the hematopoietic and immune systems. Effects of interest were those that occurred within the first 12 months after exposure. The survey does not include articles reporting chronic or long term delayed effects of radiation unless they provided insight into mechanisms of morphological and/or functional derangement. Information presented in the report is divided into subtopics (i.e., Brain-Morphological ...
A first-principles task-based approach to the design of medical ultrasonic imaging systems for breast lesion discrimination is described. This study explores a new approximation to the ideal Bayesian observer strategy that allows for object heterogeneity. The new method, called iterative Wiener filtering, is implemented using echo data simulations and a phantom study. We studied five lesion features closely associated with visual discrimination for clinical diagnosis. A series of human observer measurements for the same image data allowed us to quantitatively compare alternative beamforming strategies through measurements of visual discrimination efficiency. Employing the Smith-Wagner model observer, we were able to breakdown efficiency estimates and identify the processing stage at which performance losses occur. The methods were implemented using a commercial scanner and a cyst phantom to explore development of spatial filters for systems ...
AIDE (Activity and Internal Dose Estimates) is a software for calculating activities in compartments and committed doses due to occupational exposures, and for performing intake and dose estimates using bioassay data. It has been continuously developed and tested for more than 20 years. Its calculation core has been applied in several situations, like performing all dose estimates due to (137)Cs intakes, which occurred during the Goiania accident in 1987; performing quality assurance of the ICRP Task Group on Dose Calculations regarding calculations of activities in compartments and generation of dose coefficients for adults due to intakes by inhalation, ingestion and injection of several radionuclides; and producing the tables of activities in compartments and dose coefficients using the NCRP Wound Model for the NCRP report. It provides several capabilities like performing calculations using modified Human Respiratory Tract Model parameters ...
We have constructed a 27-kDa hTERT C-terminal polypeptide (hTERTC27) devoid of domains required for telomerase activity and demonstrated that it is capable of nuclear translocation/telomere-end targeting. Here we showed that expression of a low level of hTERTC27 renders hTERT positive HeLa cells sensitive to H(2)O(2)-induced oxidative stress and subsequent cell senescence. The senescence-associated gene, the cyclin/cdk inhibitor p21(Waf1), was up-regulated. This occurs without changing the expression of endogenous hTERT, causing significant telomere shortening or inhibiting telomerase activity. Results from this study suggest for the first time that in addition to telomerase activity, the C-terminus of hTERT also plays a role in hTERT-mediated cellular resistance to oxidative stress. PMID:12565825
Zoonoses are infections that are spread from animals to humans. Most often, humans are “dead-end” hosts, meaning that there is no subsequent human-to-human transmission. If one considers...Full Text Available
An antiserum was raised in a rabbit against highly purified human liver dihydropteridine reductase (EC 1.6.99.7). Dihydropteridine reductase from human liver, in human cultured fibroblasts and in continuous...Full Text Available
BackgroundToday, there is a trend towards establishing the medical humanities as a component of medical education. However, medical humanities programs that exist within the context...Full Text Available
Analysis of data on seedling traits from 20 diverse genotypes revealed significant differences fro most of the seedling traits. Significant estimates of broad-sense heritability were observed for VI, ERI, FRTW, DRTW and R/S ratio. Genetic advance was maximum for VI,ERI and E%. The correlation of VI with ERI and R/S ratio was negative and significant, whereas it was positive and significant with E%, FSHW and DSHW. Characterization of the sorghum genotypes according to Anderson's Metro glyph Statistics revealed five different groups for seedling trails. (authors)
BackgroundDuplications of stretches of the genome are an important source of individual genetic variation, but their unrecognized presence in laboratory organisms would be a confounding...Full Text Available
The application of multi-objective genetic algorithms for green building design in two phases were presented in order to better help designers in the decision-making process. The purpose is to minimize two conflicting criteria: the life-cycle cost and the life-cycle environmental impact. Environmental impact criteria examined include energy and non-energy natural resources, global warming, and acidification. Variables focus on building envelope-related parameters. The application of multi-objective genetic algorithms is divided into two phases. The first phase intends to help designers in understanding the trade-off relationship between the two conflicting criteria. The second phase intends to refine the performance region that is of the designer's interest. The results after the two-phase application of the multi objective genetic algorithm were then presented. 13 refs., 4 tabs., 3 figs.
German translation of the publication 'The evaluation of risks from radiation' published in 1965 by the International Commission on Radiological Protection. In a survey, genetic and somatic risks from radiation are presented and explained. (HP).
We determined the underlying aetiology of blindness for the registered blind population of the Province of Newfoundland and Labrador. In both 1981 and 1984 single-gene disorders accounted for 30% of...Full Text Available
Myriad genetic and epigenetic alterations are required to drive normal cells toward malignant transformation. These somatic events commandeer many signaling pathways that cooperate to endow aspiring...Full Text Available
Spatial epidemiology is the description and analysis of geographic variations in disease with respect to demographic, environmental, behavioral, socioeconomic, genetic, and infectious risk factors....Full Text Available
To evaluate the contribution of genetic influences on the individual variation in plateau serum salicylate levels, salicylate metabolism was studied in seven pairs of identical and six pairs of fraternal...Full Text Available
The success of monoclonal antibodies in clinical practice is dependent on good design. Finding a suitable target is the most important part as other properties of the antibody can be altered by genetic...Full Text Available
the environment, with the 2006 release of a GM pink bollworm moth (a pest of cotton), ...Use of Genetically Engineered Fruit Fly and Pink Bollworm in APHIS Plant Pest Control Programs 6 Gould,
Comparative Molecular Genetic Monitoring of Myxoviruses Circulating in Populations of Seals Phoca Caspia and Phoca Sibirica in Northern Caspian Region and Lake Baikal
In this work, we report for the first time on the analysis of genetic diversity within a set of 36 Tunisian Opuntia ficus indica (L.) Mill. ecotypes using RAPD markers.Random decamer primers were screened to assess their ability to detect polymorphisms in this plant crop. Thirty-nine RAPD markers were revealed and used to survey the genetic diversity at the DNA level and to establish relationships.Consequently, considerable genetic diversity was detected and the UPGMA analysis permitted the discrimination of all the genotypes and enabled their sorting into thirteen groups. The accession `R Sbiba inerme' was significantly divergent from all tested genotypes. In addition, as shown by the clustering the tested genotypes did not significantly diverge, though originating from different localiti...
BackgroundMolecular genetic studies of Bombyx mori have led to profound advances in our understanding of the regulation of development. Bombyx mori brain,...Full Text Available
Microreserves may be useful in protecting native arthropod diversity in urbanized landscapes. However, species that do not disperse through the urban matrix may eventually be lost from these fragments. Population extinctions may be precipitated by an increase in genetic differentiation among fragments and loss of genetic diversity within fragments, and these effects should become stronger with time. We analyzed population genetic structure in the dispersal limited Jerusalem cricket Stenopelmatus n. sp. ?santa monica?? in the Santa Monica Mountains and Simi Hills north of Los Angeles, California (CA), to determine the impacts of fragmentation over the past 70 years. MtDNA divergence was greater among urban fragments than within contiguous habitat and was positively correlated with fragment ...
PurposeClinical trials have commenced to evaluate the feasibility of targeting malignant gliomas with genetically engineered cytolytic T-cells (CTLs) delivered directly...Full Text Available
The gilthead seabream, Sparus aurata, represents an important economic resource for Mediterranean aquaculture. In spite of its wide geographic distribution and economic importance, only recently studies have been carried out on the genetic composition of natural populations, which have revealed a picture of a heterogeneous degree of genetic differentiation among S. aurata populations. In this study an allozyme analysis of samples from six different collecting sites along the Italian and Croatian coasts was carried out, covering an area in the Central Mediterranean sea that has yet to be investigated through gene-enzyme systems. Data on 26 gene loci, 10 of which are polymorphic, indicate a slight but significant genetic structure (FST = 0.0167) of the species. A hierarchical analysis of pop...
RationaleCollaterals are arteriole-to-arteriole anastomoses that connect adjacent arterial trees. They lessen ischemic tissue injury by serving as endogenous bypass...Full Text Available
The expression of motor activity levels in response to novel situations is under complex genetic and environmental control. Several genetic loci have been implicated in the regulation of this behavioral phenotype, but their relationship to epigenetic and epistatic interactions is relatively unknown. Here, we report on a quantitative trait locus (QTL) on mouse chromosome 1 for novelty-induced motor activity in the open field, using chromosome substitution strains derived from a high active host strain (C57BL/6J) and a low active donor strain (A/J). The QTL for open field (horizontal distance moved) peaked at the location of Kcnj9, however, QTL detection was initially masked by an interplay of both grandparent genetic origin and genetic co-factors influencing behavior on chromosome 1. Our fi...
BackgroundMutations that disrupt the conversion of prelamin A to mature lamin A cause the rare genetic disorder Hutchinson-Gilford progeria syndrome and a group of laminopathies....Full Text Available
Behavioral responses to wind are thought to play a critical role in controlling the dispersal and population genetics of wild Drosophila species1,Full Text Available
Does the cultural background influence the success with which genetically unrelated individuals cooperate in social dilemma situations? In this paper, we provide an answer by analysing the data of Full Text Available
Executive summary 1. Few studies have to date explained consumer attitudes and purchase decisions with regard to genetically engineered food products. However, the increased marketing of genetically engineered food products and the considerable concern that consumers seem to express with regard to the technology call for the development of a theoretical basis for research into these issues. 2. The aim of the paper is to present three models which we have developed to explain consumer attitudes, buying behaviour and attitude change with regard to genetically engineered food products. All three models build on established consumer behaviour theory and on existing and comparable research in the field. 3. Consumer attitudes toward genetic engineering in food products are explained in an attitude model that builds on Fishbein's multiattribute attitude model. The model deviates from Fishbein's model in a ...
The study of genetic variability within natural populations of pathogens may provide insight into their evolution and pathogenesis. We used a Mycobacterium tuberculosis high-density...Full Text Available
Aging can be defined as a progressive decline in physiological efficiency regulated by an extremely complex multifactorial process. The genetic makeup of an individual appears to dictate this rate...Full Text Available
What genes are related to AEC syndrome? AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an...
Exposure to crystalline silica dust causes multiple diseases, but silicosis and silica dust-associated tuberculosis (TB), in particular, are the two diseases that remain high on the list of occupational health priorities in low-income countries and that still occur in some high-income countries. The prevalence of silica-related TB is exacerbated by the human immunodeficiency virus (HIV) epidemic in low-income countries. This review describes the morphology of silica and the variable potency of the different forms. Sources of crystalline silica are discussed, with emphasis on less commonly recognised sources, such as small-scale mining operations and agriculture. Trends in the prevalence of silicosis are also presented. Although efforts have been made for many years in most countries to reduce silica dust levels, silicosis continues to occur even in young people. The clinical and pathological features and diagnosis of ...
Since the Scientific Assessment of Ozone Depletion: 1998, numerous laboratory investigations, atmospheric observations, and theoretical and modeling studies have produced new key findings and have strengthened overall understanding of the ozone layer and its effect on ultraviolet (UV) radiation. These advances are highlighted in the following summary of the current understanding of the impact of human activities and natural phenomena on the ozone layer and the coupling of the ozone layer and the climate system. In the troposphere (i.e., lower atmosphere), observations show that the total combined effective abundance of ozone-depleting compounds continues to decline slowly from the peak that occurred in 1992-1994. Total chlorine is declining, while bromine from industrial halons is still increasing, albeit at a slower rate than was occurring previously (and as reported in the 1998 Assessment). Analyses of air trapped in snow ...
Although the p53 tumor suppressor is relatively well characterized, much less is known about the functions of other members of the p53 family, p73 and p63. Here, we present evidence that in specific pathological conditions caused by exposure of normal cells to bile acids in acidic conditions, p73 protein plays the predominant role in the DNA damage response. These pathological conditions frequently occur during gastric reflux in the human esophagus and are associated with progression to esophageal adenocarcinoma. We found that despite strong DNA damage induced by bile acid exposure, only p73 (but not p53 and p63) is selectively activated in a c-Abl kinase-dependent manner. The activated p73 protein induces DNA damage repair. Using a human DNA repair PCR array, we identified multiple DNA repair genes affected by p73. Two glycosylases involved in base excision repair, SMUG1 and MUTYH, were characterized and found to be ...
In view of the findings that several Kunitz-type protein inhibitors suppress tumor invasion and metastasis, the aim of the present study is to explore whether Bungarus multicinctus protease inhibitor-like protein-2 (PILP-2) and PILP-3 exhibit anti-tumor activity. Although approximately 28% of amino acid substitutions occurred between PILP-2 and PILP-3, molecular modeling suggested that PILP-2 and PILP-3 shared similar folded structures. Unlike PILP-2, PILP-3 showed a notable activity in abolishing migration and invasion of human neuroblastoma SK-N-SH cells. The ability of PILP-3 to inhibit matrix metalloprotease-2 (MMP-2) activity was higher than that of PILP-2. Pull-down assay revealed protein-protein interaction between PILP-3 and MMP-2. In contrast to mutation on N-terminal region, replacement of amino acids at C-terminus attenuated notably the ability of PILP-3 to inhibit cell invasion, cell migration and MMP-2 activity as well as the ...
Interleukin 2 (IL-2) is a T-cell-derived lymphokine critical in the activation and proliferation of T cells, B cells, and lymphokine-activated killer cells. It is a glycoprotein of #approx#15,500 daltons that is synthesized and secreted after activation by antigen or mitogen. By using the analogs 8-azidoadensoine 5'-[#gamma#-"3"2P]triphosphate ([#gamma#-"3"2P]8N_3ATP) and nicotinamide 2-azidoadenine [adenylate-"3"2P]dinucleotide ([#alpha#-"3"2P]2N_3NAD"+) as photoaffinity probes, the authors have detected specific, metal ion-requiring nucleotide binding sites on recombinant human IL-2 (rhIL-2). The specificity of these nucleotide interactions with rhIL-2 was demonstrated by saturation effects and by competition by the parent nucleotides at physiologically relevant concentrations. Saturation of photoinsertion into rhIL-2 occurred at 50 #mu#M [#gamma#-"3"2P]8N_3ATP. Saturation of photoinsertion with [#alpha#-"3"2P]2N_3NAD"+ was observed at 180 ...
It is anticipated that early in the next century manned missions into outer space will occur, with a mission to Mars scheduled between 2015 and 2020. However, before such missions can be undertaken, a realistic estimation of the potential risks to the flight crews is required. One of the uncertainties remaining in this risk estimation is that posed by the effects of exposure to the radiation environment of outer space. Although the composition of this environment is fairly well understood, the biological effects arising from exposure to it are not. The reasons for this are three-fold: (1) A small but highly significant component of the radiation spectrum in outer space consists of highly charged, high energy (HZE) particles which are not routinely experienced on earth, and for which there are insufficient data on biological effects; (2) Most studies on the biological effects of radiation to date have been high-dose, high dose-rate, whereas in space, with the ...
Previous experiments had indicated a slight genotoxic potential both in rat and in human colon cells of a sample of 2-dodecylcyclobutanone, a compound formed by irradiation of food containing palmitic acid in its triglycerides. Up to date, there is no evidence that 2-alkylcyclobutanones occur in non-irradiated foodstuffs, consequently it is prudent to test several members of the class of 2-alkylcyclobutanones which are produced by treatment of fat-containing food with ionising radiation. In this work, 2-tetradecylcyclobutanone (derived from stearic acid) has been tested for its cytotoxic and genotoxic potential. Human colon tumor cell lines, i.e. HT 29 and HT 29 clone 19A, were employed as models for in vitro experiments for cytotoxicity and genotoxicity tests. Cytotoxicity was measured by tetrazolium salt reduction assays (MTT and WST-1) and genotoxicity by determining DNA damage using the Comet Assay. Neither cytotoxic ...
Mutations in transcription factors hepatocyte nuclear factors (HNF)-1#alpha# and HNF-1#beta# cause maturity-onset diabetes of the young (MODY) types 3 and 5, respectively. HNF-1#alpha# and HNF-1#beta# mutations are well studied in some tissues, but the mechanism by which HNF-1#alpha# and HNF-1#beta# mutations affect sucrase-isomaltase (SI) transcription in the small intestine is unclear. We studied the effects of 13 HNF-1#alpha# mutants and 2 HNF-1#beta# mutants on human SI gene transcription, which were identified in subjects with MODY3 and MODY5, respectively. Transactivation activity of 11 HNF-1#alpha# and 2 HNF-1#beta# mutants was significantly lower than that of wild (wt)-HNF-1#alpha# and wt-HNF-1#beta#. Furthermore, in co-expression studies with mutant (mu)-HNF-1#alpha#/ wt-HNF-1#beta# and wt-HNF-1#alpha#/mu-HNF-1#beta#, the combination of mu-HNF-1#alpha# (P379fsdelCT and T539fsdelC)/wt-HNF-1#beta# impaired SI transcription, but the others were not remarkably ...
This book summarizes the research that has been conducted in Canada over the past five years on the issue of climate change impacts on key sectors such as water resources, agriculture, forestry, fisheries, coastal zones, transportation, and human health and well-being. The book refers to the growing evidence that climate change is occurring. The Intergovernmental Panel on Climate Change (IPCC) believes that these changes have already contributed to increases in annual precipitation, cloud cover and extreme temperatures over the last 50 years. It suggests that it in order to develop an effective strategy for adaptation, it is necessary to understand the vulnerability of each sector to climate change in terms of the nature of climate change, the climatic sensitivity of the region being considered, and the capacity to adapt to the changes. Adaptation will require a reduction in greenhouse gas emissions in order to lower the rate of climate change. ...
Steam generators (SG) are among the most critical components of pressurized water Nuclear Power Plants (NPP). SG tubes must provide a reliable pressure boundary between the primary and secondary cooling water. It is because that any leakage from tube defects could result in the release of radioactivity to the environment. Thus degradations of steam generators tubes should be monitored and inspected periodically under nuclear regulatory. In-service inspections of SG tubes are carried out using eddy current test (ECT) and the defected tubes are usually plugged. Because the radioactivity in the internal of SG chambers limits free access of human worker, remote manipulators are required. In South Korea, Manipulators such as the Zetec SM series and the Westinghouse ROSA series have been used. Such manipulators are rigidly mounted to manways or tube sheets of SG. Confusions for the inspected tubes may occur from deflection of the manipulators. To ...
A dialyzable factor(s) in human serum is known to stimulate gonococcal oxygen consumption. Its effect on other human pathogens was investigated. A 10% serum solution increased peak O2 consumption for Escherichia coli and Staphylococcus aureus to 157% (P less than 0.05) and 199% (P less than 0.02), respectively, of their O2 consumption when suspended in Hanks balanced salt solution, compared with a 356% increase for Neisseria gonorrhoeae with serum. Dialyzed serum lacked stimulatory capacity. Bacteria, serum, and neutrophils are often incubated to evaluate neutrophil bactericidal activity. Samples of 10(8) N. gonorrhoeae, S. aureus, and E. coli turned resazurin colorless (anaerobic conditions, Eh less than -42 mV) after 7.4, 13.3, and 15.1 min, respectively. Because neutrophil formation of reactive oxygen intermediates requires ambient O2, the effect of live bacteria and serum on this process was explored. After 5 min of incubation of 10(8) N. ...
ABSTRACT: BACKGROUND: The capacity to maintain internal ion homeostasis amidst changing conditions is particularly important for teleost fishes whose reproductive cycle is dependent upon movement from freshwater to seawater. Although the physiology of seawater osmoregulation in mitochondria-rich cells of fish gill epithelium is well understood, less is known about the underlying causes of inter- and intraspecific variation in salinity tolerance. We used a genome-scan approach in Arctic charr (Salvelinus alpinus) to map quantitative trait loci (QTL) correlated with variation in four salinity tolerance performance traits and six body size traits. Comparative genomics approaches allowed us to infer whether allelic variation at candidate gene loci (e.g., ATP1alpha1b, NKCC1, CFTR, and cldn10e) could have underlain observed variation. RESULTS: Combined parental analyses yielded genome-wide significant QTL on linkage groups 8, 14 and 20 for salinity tolerance performance traits, and 1, 19, 20 ...
A graphic approach, terms a Genetic Activity Profile (GAP), was developed to display a matrix of data on the genetic and related effects of selected chemical agents. The profiles provide a visual overview of the quantitative (doses) and qualitative (test results) data for each chemical. Either the lowest effective dose or highest ineffective dose is recorded for each agent and bioassay. Up to 200 different test systems are represented across the GAP. Bioassay systems are organized according to the phylogeny of the test organisms and the end points of genetic activity. The methodology for producing and evaluating genetic activity profile was developed in collaboration with the International Agency for Research on Cancer (IARC). Data on individual chemicals were compiles by IARC and by the US Environmental Protection Agency (EPA). Data are available on 343 compounds selected from volumes 1-53 of the IARC ...
In this paper, a new design methodology for determining the size, location, type and number of capacitors to be placed on a radial distribution system is presented. The objective is to minimize the peak power losses and the energy losses in the distribution system considering the capacitor cost. A sensitivity analysis based method is used to select the candidate locations for the capacitors. A new optimization method using a Genetic Algorithm is proposed to determine the optimal selection of capacitors. Test results have been presented along with the discussion of the algorithm.
A 13.1-kb DNA fragment carrying Pseudomonas denitrificans cob genes has been sequenced. The nucleotide sequence and genetic analysis revealed that this fragment contained five different cob genes named...Full Text Available
We have used triparental matings to demonstrate transfer (mobilization) of the nonconjugative genetically engineered plasmid pHSV106, which contains the thymidine kinase gene of herpes simplex virus...Full Text Available
These three volumes cover liposome technology in pharmacology and medicine. Contributors emphasize methodology used in their own laboratories, and include a brief introduction, coverage of relevant literature, applications and critical evaluations for the methods they describe. Volume II presents procedures for the entrapment of a number of drugs, including genetic material, into selected types of liposomes.
Newly hatched chicks were dosed orally with a Salmonella typhimurium wild-type strain, an S. enteritidis wild-type strain, and a genetically defined S. enteritidis aroA vaccine candidate, strain CVL30....Full Text Available
It is the purpose of this review to draw together the recent research adding to our understanding of the molecular nature of Clostridia. The thrust here is to emphasize those research advances in biochemistry and genetics that bear upon future development of fermentation processes employing the Clostridia. 222 refs., 10 figs., 5 tabs.
The possible genetic (dominant lethal mutations (DLM) and cytogenetic changes in the regenerating liver) and somatic (hematopoietic stem cell changes, growth and nonspecific life time shortening) effects in mice maintained on tritiated water (HTO) over two generations was investigated. Results to date are summarized. (ACR)
Constructive and combinatorial relationships between order-isomorphisms and order-equivalence classes within the generalized genetic code are presented, not only for the biologically relevant groups of order 4, but also for finite groups of arbitrary order. The main result is the derivation of the number (and types) or order-equivalence classes for a group of order n. Finally, an extension of this work to all biologically admissible alternative codes is discussed.
The risks from radiation exposure during radiological diagnosis has usually been estimated in relation to genetic changes. Relevant information has been expressed as the genetically significant dose. In this paper we attempt to produce an analogous measure for evaluating the somatic risk in the form of a somatically significant dose index for radiological and CT examinations. It is shown that, for both types of examination, the two risk factors may be entirely different.
The risks from radiation exposure during radiological diagnosis has usually been estimated in relation to genetic changes. Relevant information has been expressed as the genetically significant dose. In this paper we attempt to produce an analogous measure for evaluating the somatic risk in the form of a somatically significant dose index for radiological and CT examinations. It is shown that, for both types of examination, the two risk factors may be entirely different. (orig.).
The biomedical and ecological interest for the microwave impact on the Earth biosphere is continuously increased since the industrial, military and communication activities strongly contribute to the electromagnetic stress of living bodies. In the next the authors present some of the main results obtained regarding the microwave exposure of various types of biological material: bacteria, fungi, young plant seedlings, dry seeds, animal tissues. The electromagnetic exposure was carried out in open space in well controlled environmental conditions by using 10.75 GHz/1 m W cm{sup -2} microwaves. Biochemical assays and cytogenetic tests have been carried out to reveal the changes induced post irradiation. The response of some pathogen bacteria, have been emphasized by means of turbidimetric measurements - the stimulatory effect being noticed at the level of the microbial population density (the stimulation of the human body microbial flora seems to be one of the side ...
In the third millennium, when the main words are globalization, world net of computers, genetic code and efficiency, deep transformations have been incorporated to human behavior. Among such transformations it may be pointed out, matching with the objectives of this study, the modem consumer's profile. The consumers have quickly become more and more conscious and demanding regarding to the quality of the available products in the market. In that sense, the consumer's concern about the natural and healthy appearance, as well as the preservation of the nutritious content of the foods, have been a constant sign of alert for producers and suppliers. Besides, the timeless for domestic preparation of foods have imposed the use of minimally processed as an incontestable reality. A barrier for the production of minimally processed foods is imposed by the degree of perishability of certain products, such as the cassava-parsley. This vegetable is a ...
Crosses between field isolates of Magnaporthe grisea (anamorph, Pyricularia oryzae Cav. and Pyricularia grisea) have led to the development of fertile laboratory strains that infect goosegrass and/or weeping lovegrass. These strains may now be utilized in a rigorous genetic analysis of host species specificity and general pathogenicity. Attempts to improve the fertility of rice pathogens for the goal of undertaking a genetic analysis of host cultivar specificity have so far been unsuccessful. Crosses between M. grisea strains that infect rice, goosegrass or weeping lovegrass demonstrate that host species specificity differences between field isolates of this fungus in some cases have a complete genetic basis, and in other cases have a simple genetic basis. Crosses between a field isolate of the pathogen that infects weeping lovegrass and a field isolate that infects goosegrass have resulted in the ...
Abstract Polymorphisms in the genomic DNA of eight varieties maintained by conventional bud propagation (via rhizomes) and by in vitro shoot tip cultures were detected by RAPD analysis of sugarcane varieties. The study estimated the genetic diversity induced after in vitro multiplication of these varieties. Higher (28.9%) and lower (12%) numbers of polymorphic bands were detected in plants propagated via rhizomes; the genetic similarity estimate varying from 0.63 to 0.80. Plants of SP90-3723 and SP91-1049, or RB85-5113 and SP90-3723, varieties involving greater genetic distances may be indicated as progenitors in breeding programmes. In vitro multiplication of RB86-7515, RB85-5113, RB83-5054 and SP86-42 varieties increases genetic variability, while in vitro multiplication of SP91-1049, SP...
Human antibodies targeting prostate cancer cell surface epitopes may be useful for imaging and therapy. The objective of this study was to evaluate the tumor targeting of an internalizing human...Full Text Available
IgA from normal human serum, a myeloma IgA and human colostral IgA were found to inhibit the IgG-dependent phagocytosis of Candida albicans (CA) blastospores by polymorphonuclear leucocytes...Full Text Available
Reliable characterization of locomotor dynamics of human walking is vital to understanding the neuromuscular control of human locomotion and disease diagnosis. However, the inherent oscillation and...Full Text Available
Our goal was to determine whether chlorpyrifos oxon, dichlorvos, diisopropylfluorophosphate (DFP), and sarin covalently bind to human albumin. Human albumin or plasma was treated with organophosphorus...Full Text Available
Although humans vary in their response to chemicals, comprehensive measures of susceptibility have generally not been incorporated into human risk assessment. The U.S. EPA dose-response-based risk assessments...Full Text Available
This study addresses the mechanism of transport of the H2-receptor antagonist, cimetidine, by the human placenta. A 4-h recycling perfusion of a single placental cotyledon of normal, term, human placenta...Full Text Available
Rodent models have been extensively utilized to identify putative human immunotoxicants; however, even when immunotoxicity is established, uncertainty remains whether the effects are predictive of human...Full Text Available
The drug-binding properties of human alpha-foetoprotein (alpha FP) were investigated by a fluorescence-spectral method. Human alpha FP was shown to bind to albumin's site I marker (warfarin, phenylbutazone),...Full Text Available
... Accession Number : AD0749455. Title : Uptake and Retention of Adenine Moiety by Stored Human Red Blood Cells. Descriptive Note : Interim rept.,. ...
Collection, analysis and quantification of human factor data are important compositions of human reliability analysis (HRA) and probabilistic risk assessment (PRA). Various human factor databases have been set up, but there are comparatively little human factor data management systems which can be uses for collection, classification, analysis, calculation and predication of the human factor data. Therefore, the human factor data management system for Daya Bay NPP is developed, with the following three modules and four databases: original data module, computing module, introduced data module, and basic database, other data source of the plant, external database and introduced database. The foundational problems about human factor data and the systemic structure and function are described. The data structure in the database is also discussed, ...
BackgroundBrucellosis is a zoonosis of veterinary, public health and economic significance in most developing countries. Human brucellosis is a severely debilitating disease that...Full Text Available
In this paper, an attempt is made to outline the priority areas for research in human nutrition in India that could be tackled by appropriate application of stable isotope technology. 10 refs.
... less humans have to do to operate a robot. ... Robots can help human operators with the increase ... important mission outlined by the UUV master plan. ...
The general methods used to complete measurements of human exposures are identified and illustrations are provided for the cases of indirect and direct methods used for exposure analysis. The application...Full Text Available
Tumour hypoxia represents a significant challenge to the curability of human tumours leading to treatment resistance and enhanced tumour progression. Tumour hypoxia can be detected by non-invasive and...Full Text Available
Our global impact is finally receiving the scientific attention it deserves. The outcome will largely determine the future course of evolution. Human-modified ecosystems are shaped by our activities...Full Text Available
This is a presentation on Human Factors in reactor operations. It discusses issues that deal with power plant operations, training and design, operational effectiveness and safety, supporting people to achieve effective and error free performance.
BackgroundPerfluoroalkyl acids (PFAAs) are found globally in wildlife and humans and are suspected to act as endocrine disruptors. There are no previous reports of PFAA levels in...Full Text Available
The stable introduction of therapeutic transgenes into human cells can be accomplished using viral and nonviral approaches. Transduction with clinical-grade recombinant viruses offers the potential...Full Text Available
The authors describe the development of a four-dimensional atlas and reference system that includes both macroscopic and microscopic information on structure and function of the human brain in persons...Full Text Available
A comparison of the results of machine and human information retrieval using MEDLARS and the printed Index Medicus indicates that at present neither method is entirely satisfactory...Full Text Available
Malformations in farmed fish are a prime research topic as it has a major impact on fish welfare and on the economical value of the product. In this study, the genetic component of spine deformities was estimated in European sea bass, a major species of Mediterranean aquaculture, with the use of a posteriori reconstruction of pedigree with microsatellites. Our population exhibited a very high malformation rate (81%), probably due to intense swimming of fish during pre-growing. The heritability of global spine deformities was evaluated to be 0.21?0.04 on the underlying scale (0.33?0.06 for lordosis, 0.13?0.04 for scoliosis). Deformities scored by an internal or external examination turned out to be genetically the same trait (genetic correlations>0.9), although phenotypic correlations were ...
In virtually all forms of life on earth, proteins in each cell are made according to a genetic blueprint, in the form of DNA. The translation of copies of this genetic blueprint (in the form of messenger RNA) into polypeptides is performed on the ribosome, a highly complex molecular machine composed of RNAs and proteins. To this end, special adaptor molecules called transfer RNAs are lined up by the ribosome in the sequence dictated by the genetic code, such that the amino acids carried by these molecules can be linked into a polypeptide. Several cofactors are involved in these processes, some of which require energy freed up by GTP hydrolysis. Although the ribosome was discovered more than 50 years ago, its structure has only been solved recently by X-ray crystallography. Another technique, cryo-electron microscopy, is starting to contribute toward our understanding of the ribosome's function, by portraying its ...
On November fourth and fifth 2010 a group of more than 100 international investigators gathered in Atlanta for the second Osteoarthritis (OA) Biomarkers Global Initiative workshop titled ''Genetics and Genomics: New Targets in OA''. The first workshop took place in April 2009 and focused on in vitro (soluble) biomarkers whilst the third and final workshop will take place in 2012 and will focus on imaging biomarkers. The OA Research Society International (OARSI) has organized the workshops. In addition to OARSI, the National Institute of Arthritis, Musculoskeletal and Skin Diseases, the Arthritis Foundation, Amgen, Genzyme, the American Orthopaedic Society for Sports Medicine and Pfizer sponsored the second meeting. It was clear from this meeting that experiments in the genetics, epigenetic...
Abstract Aim- To explore whether the subspecific genetic entities of Acacia saligna occupy different bioclimatic niches in their native and introduced ranges and whether these niches are predictable using species distribution models (SDMs). Location- Australia, South Africa and the Mediterranean Basin. Methods- Species distribution models were developed in MAXENT using six climatic variables to calculate the climatic suitability of the ranges of A.saligna. We assessed (1) the subspecific niche differences identified by SDMs using measures of niche overlap and model performance; (2) the ability of SDMs to predict the most likely subspecific genetic entities present in South Africa based on comparisons to genetic data; and (3) the ability of SDMs to predict the most likely subspecific geneti...
Monocelis lineata is a complex of cryptic species (three in the Mediterranean and one in the Atlantic) widespread in midlittoral habitats. Throughout the range, populations with or without an ocular pigmented shield are found. We investigated the genetic structure of the North-East Atlantic populations with the aim of shedding light on their phylogeography and reconstructing possible patterns of recolonization after the Wrmian glaciation. Fourteen samples were investigated using cytochrome c oxidase subunit I (COI) and 13 by inter-simple sequence repeats (ISSRs). COI did not exhibit a clear pattern of decreased genetic diversity along a latitudinal gradient. Populations from Ferrol (Spain), Doolin (Ireland), and Helsingr (Denmark) showed a higher genetic variability, whereas a reduction in...
The Seventh Meeting of the Conference of the Parties (2004) of the Convention on Biological Diversity established a mandate for the negotiation of an international regime on Access to Genetic Resources and Benefit Sharing arising from their utilization. Negotiations have been proceeding and have entered the final phase. Seven working group meetings have been held to date and there is expectation that an instrument will emerge by the final deadline - the Tenth Meeting of the Conference of the Parties in Nagoya, Japan in October 2010. A key component singled out for inclusion in the international regime relates to the recognition and protection of the rights of indigenous and local communities (ILCs) over their traditional knowledge (TK) associated with genetic resources. The Ninth Meeting o...
Occurrence of genetic variants during micropropagation is occasionally encountered when the cultures are maintained in vitro for long period. Therefore, the micropropagated multiple shoots of Vanilla planifolia Andrews developed from axillary bud explants established 10 years ago were used to determine somaclonal variation using random amplified polymorphic DNA (RAPD) and intersimple sequence repeats markers (ISSR). One thousand micro-plants were established in soil of which 95 plantlets (consisting of four phenotypes) along with the mother plant were subjected to genetic analyses using RAPD and ISSR markers. Out of the 45 RAPD and 20 ISSR primers screened, 30 RAPD and 7 ISSR primers showed 317 clear, distinct and reproducible band classes resulting in a total of 30 115 bands. However, no ...
Obesity is associated with increased susceptibility to dyslipidemia, insulin resistance, and hypertension, a combination of traits that comprise the traditional definition of the metabolic syndrome. Recent evidence suggests that obesity is also associated with the development of nonalcoholic fatty liver disease (NAFLD). Despite the high prevalence of obesity and its related conditions, their etiologies and pathophysiology remains unknown. Both genetic and environmental factors contribute to the development of obesity and NAFLD. Previous genetic analysis of high-fat, diet-induced obesity in C57BL/6J (B6) and A/J male mice using a panel of B6-ChrA/J/NaJ chromosome substitution strains (CSSs) demonstrated that 17 CSSs conferred resistance to high-fat, diet-induced obesity. One of these CSS st...
Summary 1. Plants express multiple defensive traits, but little is known about the genetic stability and phenotypic plasticity of these traits in nature. To investigate sources of variation and their potential ecological consequences for herbivores, we combined field observations of cyanogenic lima bean with laboratory experiments. 2. Field studies in South Mexico revealed a distinct variability of cyanogenic traits within and among wild lima bean populations. To differentiate among genetic variation and the impact of ambient conditions on plant phenotypes, we used seed grown plants as well as clones propagated from high (HC) and low cyanogenic (LC) wild type plants. 3. In growth chamber experiments, we cultivated plants under three intensities each of drought and salt stress, nutrient sup...
Plant secondary chemistry is determined by both genetic and environmental factors, and while large intraspecific variation in secondary chemistry has been reported frequently, the levels of genetic variation of many secondary metabolites in forest trees in the context of potential resistance against pests have been rarely investigated. We examined the effect of tree genotype and environment/site on the variation in defensive secondary chemistry of lodgepole pine, Pinus contorta var. latifolia, against the fungus, Grosmannia clavigera (formerly known as Ophiostoma clavigerum), associated with the mountain pine beetle, Dendroctonus ponderosae. Terpenoids were analyzed in phloem samples from 887, 20-yr-old trees originating from 45 half-sibling families planted at two sites. Samples were coll...
Three in vivo assays were used to measure the immunocompetence of chickens in two generations of a selection experiment. The obtained data were used to estimate the variance components for sire and dam for antibody production to Pasteurella multocida and Mycoplasma gallisepticum vaccines, for T-cell-mediated immunity evaluated by a phytohemagglutinin wing web assay, and for clearance of foreign particles from the circulatory system. Heritabilities of and genetic correlations among these immunological traits were calculated from the sire variance components. Heritability estimates of the immunological traits based on the sire component of variance ranged from .06 to .53, and genetic correlations among immunological traits were generally negative. PMID:1956847
Abstract Previous research has established the comorbidity of adult Attention-Deficit Hyperactivity Disorder (ADHD) with different personality disorders including Borderline Personality Disorder (BPD). The association between adult ADHD and BPD has primarily been investigated at the phenotypic level and not yet at the genetic level. The present study investigates the genetic and environmental contributions to the association between borderline personality traits (BPT) and ADHD symptoms in a sample of 7,233 twins and siblings (aged 18-90 years) registered with the Netherlands Twin Register and the East Flanders Prospective Twin Survey (EFPTS) . Participants completed the Conners' Adult ADHD Rating Scales (CAARS-S:SV) and the Personality Assessment Inventory-Borderline Features Scale (PAI-BO...
The objective of the present work is to study the chemical variation in Calophyllum inophyllum growing along the Western Ghats of India. Contents of dipyranocoumarins (inophyllums) in C.?inophyllum were determined to assess whether they could be used as a taxonomic marker for C.?inophyllum. This study also aims to establish inter simple sequence repeat (ISSR) markers that can be used to study genetic variation within the species and explore correlation between ISSR and chemical markers. The contents of dipyranocoumarins were estimated in seeds collected from 20 locations. Leaves from plants at the same 20 locations were assayed for ISSR variation. A dendrogram based on Nei?s genetic distance as well as principal component analysis based on dipyranocoumarins and ISSR variation clustered pla...
Abstract Alcohol drinking is highly prevalent in many cultures and contributes to the global burden of disease. In fact, it was shown that alcohol constitutes 3.2% of all worldwide deaths in the year 2006 and is linked to more than 60 diseases, including cancers, cardiovascular diseases, liver cirrhosis, neuropsychiatric disorders, injuries and foetal alcohol syndrome. Alcoholism, which has been proven to have a high genetic load, is one potentially fatal consequence of chronic heavy alcohol consumption, and may be regarded as one of the most prevalent neuropsychiatric diseases afflicting our society today. The aim of the integrated genome research network -Genetics of Alcohol Addiction--which is a German inter-/trans-disciplinary life science consortium consisting of molecular biologists,...
BackgroundA common approach to understanding the genetic basis of complex traits is through identification of associated quantitative trait loci (QTL). Fine mapping QTLs requires...Full Text Available
Successfully using artificial insemination (AI) is defined as getting cows pregnant when the farmer wants them in-calf and making the best use of appropriate genetic potential. Over the past...Full Text Available
Genetic studies of nicotine addiction in mice have utilized the oral self-administration model. However, it is unclear if strain differences in nicotine consumption are influenced by variation in bitter...Full Text Available
A common property of aging in all animals is that chronologically and genetically identical individuals age at different rates. To unveil mechanisms that influence aging variability, we identified markers...Full Text Available
In addition to the well documented role of cytokines in mediating tissue-level interactions, it is now clear that matrix macromolecules fulfil a complementary regulatory function. Data highlighted in...Full Text Available
The recent introduction of several transposable elements in zebrafish opens new frontiers for genetic manipulation in this important vertebrate model. This review discusses transposable elements as...Full Text Available
Transposon-based integration systems have been widely used for genetic manipulation of invertebrate and plant model systems. In the past decade, these powerful tools have begun to be used in...Full Text Available
BackgroundWhile the gene flow in some organisms is strongly affected by physical barriers and geographical distance, other highly mobile species are able to overcome such constraints....Full Text Available
Chronically elevated interleukin-6 (IL-6) affects lipid and lipoprotein metabolism. Individuals genetically predisposed to higher IL-6 secretion may be at risk of dyslipidemia, especially during the...Full Text Available
Monogenic autoinflammatory diseases encompass a distinct and growing clinical entity of multisystem inflammatory diseases with known genetic defects in the innate immune system. The diseases...Full Text Available
The world's oceans contain a complex mixture of micro-organisms that are for the most part, uncharacterized both genetically and biochemically. We report here a metagenomic study of the marine planktonic...Full Text Available
Cellular polarity is a fundamental property of every cell. Due to their extremely fast growth rate (≥1 μm/s) and their highly elongated form, filamentous fungi represent a prime example...Full Text Available
Genetic defects in the dystrophin-associated protein complex (DAPC) are responsible for a variety of pathological conditions including muscular dystrophy, cardiomyopathy, and vasospasm. Conserved DAPC...Full Text Available
Allen's Rule documents a century-old biological observation that strong positive correlations exist among latitude, ambient temperature, and limb length in mammals. Although genetic selection for thermoregulatory...Full Text Available
Disorders of mitochondrial fat metabolism lead to sudden death in infants and children. Although survival is possible, the underlying molecular mechanisms which enable this outcome have not yet been...Full Text Available
The technology of gene targeting through homologous recombination has been extremely useful for elucidating gene functions in mice. The application of this technology was thought impossible in the large...Full Text Available
The view of species as entities subjected to natural selection and amenable to change put forth by Charles Darwin and Alfred Wallace laid the conceptual foundation for understanding speciation. Initially...Full Text Available
SummarySoluble epoxide hydrolase (sEH) is a key enzyme in the metabolic conversion and degradation of P450 eicosanoids called epoxyeicosatrienoic acids (EETs). Genetic variations...Full Text Available
BackgroundCastor bean (Ricinus communis) is an agricultural crop and garden ornamental that is widely cultivated and has been introduced worldwide. Understanding...Full Text Available
BackgroundRecent evidence suggests that some sex differences in brain and behavior might result from direct genetic effects, and not solely the result of the organizational effects...Full Text Available
How an individual’s sex and genetic background modify cardiac adaptation to increased workload is a topic of great interest. We systematically evaluated morphological and physiological...Full Text Available
Although genetically identical for autosomal Chrs (Chr), male and female preimplantation embryos could display sex-specific transcriptional regulation. To illustrate sex-specific differences at the...Full Text Available
Though central to our understanding of how roots perform their vital function of scavenging water and solutes from the soil, no direct genetic evidence currently exists to support the foundational model...Full Text Available
A positive, genetic selection against the activity of the nitrogen regulatory (NTR) system was used to isolate insertion mutations affecting nitrogen regulation in Klebsiella aerogenes. Two classes...Full Text Available
...and biological processes acting on recruitment and post-recruitment EU-Agrinet - Project sheet: Biological performance testing methodology to evaluate the durability of plywood as a quality indicator ... Project sheet: Biological performance testing methodology to evaluate the durability of plywood as a quali EU-Agrinet - Project sheet: Genetic evaluation of European ...
BackgroundThe Class II DNA transposons are mobile genetic elements that move DNA sequence from one position in the genome to another. We have previously demonstrated that the naturally...Full Text Available
BackgroundSynonymous sites are freer to vary because of redundancy in genetic code. Messenger RNA secondary structure restricts this freedom, as revealed by previous findings in...Full Text Available
Most genetic changes that promote tumorigenesis involve dysregulation of G1 cell cycle progression. A key regulatory site in G1 is a growth factor–dependent restriction point (R) where cells...Full Text Available
Reverse genetics technology so far established for measles virus (MeV) is based on the Edmonston strain, which was isolated several decades ago, has been passaged in nonlymphoid cell lines, and is no...Full Text Available
The phylogeny and taxonomy of mammalian species were originally based upon shared or derived morphological characteristics. However, genetic analyses have more recently played an increasingly important...Full Text Available
Genetic algorithms (GA) were used to develop specific copper metal-ligand force field parameters for the MM3 force field, from a combination of crystallographic structures and ab initio...Full Text Available
Petal senescence, one type of programmed cell death (PCD) in plants, is a genetically controlled sequence of events comprising its final developmental stage. We characterized the pollination-induced...Full Text Available
BackgroundWith the advent of increasingly efficient means to obtain genetic information, a great insurgence of data has resulted, leading to the need for methods for analyzing this...Full Text Available
Insulin resistance plays a central role in type 2 diabetes and obesity, which develop as a consequence of genetic and environmental factors. Dietary changes including high fat diet (HFD) feeding promotes...Full Text Available
About 20% of adults are persistently colonized with S. aureus in the anterior nares. Host genetic factors could contribute susceptibility to this phenotype. The objective of...Full Text Available
Despite the health-related benefits of exercise, many people do not engage in enough activity to realize the rewards, and little is known regarding the genetic or environmental components that account...Full Text Available
Objectives:Copy number variants (CNVs) have been recognized as a source of genetic variation that contributes to disease phenotypes. Alzheimer disease (AD) has high heritability...Full Text Available
BackgroundOil palm (Elaeis guineensis Jacq.) is one of the most important oil bearing crops in the world. However, genetic improvement of oil palm through conventional...Full Text Available
Nuclear cloning is still a developing technique used to create genetically identical animals by somatic cell nuclear transfer into unfertilized eggs. Despite an intensive effort in a number...Full Text Available
The majority of diseases in the retina are caused by genetic mutations affecting the development and function of photoreceptor cells. The transcriptional networks directing these processes are regulated...Full Text Available
Various hypotheses have been proposed to explain the molecule processes of sarcomere assembly, partially due to the lack of systematic genetic studies of sarcomeric genes in an in vivo...Full Text Available
Mycobacterium tuberculosis is the etiologic agent of tuberculosis and can be accurately detected by laboratories using commercial genetic tests. Nontuberculosis mycobacteria (NTM) causing other mycobacterioses...Full Text Available
In our quest for novel genes required for the development of the embryonic peripheral nervous system (PNS), we have performed three genetic screens using MAb 22C10 as a marker of terminally differentiated...Full Text Available
PurposeRetinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations...Full Text Available
Vulnerability to abused drugs is influenced by multiple genes unique to each drug as well as to risk genes for polydrug abuse. If several inbred mouse strains respond to different drugs similarly,...Full Text Available
Microorganisms in the environment can often adapt to use xenobiotic chemicals as novel growth and energy substrates. Specialized enzyme systems and metabolic pathways for the degradation of man-made...Full Text Available
The overall objective of this project was to use molecular genetics to develop strains of bacteria with enhanced ability to remove sulfur from coal, and to obtain data that will allow the performance and economics of a coal biodesulfurization process to be predicted. (VC)
Transposable elements (TEs) comprise a large fraction of mammalian genomes. A number of these elements are actively jumping in our genomes today. As a consequence, these insertions provide a source...Full Text Available
BackgroundIdentification of global livestock diversity hotspots and their importance in diversity maintenance is essential for making global conservation efforts. We screened 52...Full Text Available
We have exploited ``progeny testing'' to map quantitative trait loci (QTL) underlying the genetic variation of milk production in a selected dairy cattle population. A total of 1,518 sires, with progeny...Full Text Available
Obesity and metabolic syndrome result from excess calorie intake and genetic predisposition and are mechanistically linked to type II diabetes and accelerated body aging; abnormal nutrient and insulin...Full Text Available
Many lessons in autoimmunity — particularly relating to the role of immune privilege and the interplay between genetics and neuroimmunology — can be learned from the study of alopecia...Full Text Available
BackgroundGenetic interactions within hybrids influence their overall fitness. Understanding the details of these interactions can improve our understanding of speciation. One experimental...Full Text Available
Large population sizes, rapid growth and 3.8 billion years of evolution firmly establish microorganisms as a major source of the planet's biological and genetic diversity. However, up to 99% of the...Full Text Available
Exploring the possibility of enhancing the properties of baculoviruses as biological control agents of insect pests, we tested the effect of expressing an insect gene (jhe) encoding juvenile hormone...Full Text Available
BackgroundModern approaches to treating genetic disorders, cancers and even epidemics rely on a detailed understanding of the underlying gene signaling network. Previous work has...Full Text Available
BackgroundPeak bone mass, attained by early adulthood, is influenced by genetic and life-style factors. Early infant feeding and duration of breastfeeding in particular, associate...Full Text Available
Baker's yeast (Saccharomyces cerevisiae) has been genetically engineered to ferment the pentose sugar xylose present in lignocellulose biomass. One of the reactions controlling the...Full Text Available
Mouse models have dramatically improved our understanding of cancer development and tumor biology. However, these models have shown limited efficacy as tractable systems for unbiased genetic...Full Text Available
Sensory analysis studies are critical in the development of quality enhanced crops, and may be an important component in the public acceptance of genetically modified foods. It has recently been established...Full Text Available
Chromosomal common fragile sites (CFSs) are genetically unstable regions of the genome that are induced by conditions that impair DNA replication. In this report, we show that treatment with the DNA...Full Text Available
The virtual lack of well-characterized metastatic pancreatic cancer tissues for study has limited systematic studies of the metastatic process of this deadly disease. To address this important...Full Text Available
Using a genetic screen we have identified two chromosomal genes, cusRS (ylcA ybcZ), from Escherichia coli K-12 that encode a two-component, signal...Full Text Available
The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features...Full Text Available
BackgroundAnimals carrying genetic mutations have provided powerful insights into the role of interstitial cells of Cajal (ICC) in motility. One classic model is...Full Text Available
Many genetic processes depend on proteins interacting with specific sequences on DNA. Despite the large excess of nonspecific DNA in the cell, proteins can locate their targets rapidly. After initial...Full Text Available
Ovine and caprine lentiviruses share the capacity to induce slowly progressive and inflammatory diseases of the central nervous system (leukoencephalitis or visna), lungs (progressive pneumonia or maedi),...Full Text Available
Arbuscular mycorrhizal fungi (AMF) are ecologically important root symbionts of most terrestrial plants. Ecological studies of AMF have concentrated on differences between species; largely assuming...Full Text Available
Genetic effects on mechanical properties have been demonstrated in rodents, but not confirmed in primates. Our aim was to quantify the proportion of variation in vertebral trabecular bone mechanical...Full Text Available
Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides...Full Text Available
Chemical genetics is an emerging approach to investigate the biology of host-pathogen interactions. We screened several inhibitors of ATP-dependent DNA motors and detected the gyrase B inhibitor coumermycin...Full Text Available
BackgroundCucumber, Cucumis sativus L. is an important vegetable crop worldwide. Until very recently, cucumber genetic and genomic resources, especially molecular...Full Text Available
Stargardt-like macular degeneration (STGD3) is an early onset, autosomal dominant macular degeneration. STGD3 is characterized by a progressive pathology, the loss of central vision, atrophy...Full Text Available
The germplasm with exotic genomic components especially from Sea Island cotton (Gossypium barbadense L. Gb) is the dominant genetic resources to enhance fiber quality of upland cotton (G. hirsutum L., Gh). Due to low efficiency of phenotypic evaluation and selection on fiber quality, genetic dissection of favorable alleles using molecular markers is essential. Genetic dissection on putative Gb introgressions related to fiber traits were conducted by SSR markers with mapping populations derived from a cross between Luyuan343 (LY343), a superior fiber quality introgression line (IL) with genomic components from Gb, and an elite Upland cotton cv. Lumianyan#22 (LMY22). Among 82 polymorphic loci screened out from 4050 SSRs, 42 were identified as putative introgression alleles. A total of 29 fib...
Available in vitro and animal studies have shown cancer protective effects of tea polyphenols. Recent study suggests a greater protective effect of green tea intake on breast cancer...Full Text Available
Exercise is essential for health, yet the amount, duration, and intensity that individuals engage in are strikingly variable, even under prescription. Our focus was to identify the locations and effects...Full Text Available
γ-Aminobutyric acid (GABA)-ergic transmission is critical for normal cortical function and is likely abnormal in a variety of neuropsychiatric disorders. We tested the in...Full Text Available
Purpose of reviewSevere congenital neutropenia (SCN) is a primary immunodeficiency in which lack of neutrophils causes inadequate innate immune host response to bacterial...Full Text Available
BackgroundBerberine is a plant alkaloid that is widely used as an anti-infective in traditional medicine. Escherichia coli exposed to berberine form filaments, suggesting...Full Text Available
SummaryBlastomycosis is a serious and potentially fatal infection by the thermally dimorphic fungus Blastomyces dermatitidis. PCR assays targeting the BAD-1 virulence...Full Text Available
The neuronal nitric oxide synthase gene (NOS1) is located at 12q24, a susceptibility region for schizophrenia, and produces nitric oxide (NO). NO has been reported to play important...Full Text Available
Keap1 regulates Nrf2 activity in response to xenobiotic and oxidative stresses. Nrf2 is an essential regulator of cytoprotective genes. Keap1-null mice are lethal by weaning age due...Full Text Available
Cigarette smoke (CS) induces recruitment of inflammatory cells in the lungs leading to the generation of reactive oxygen species (ROS), which are involved in lung inflammation and injury. Nicotinamide...Full Text Available
The genetic systems of bacteria that have the ability to use organic pollutants as carbon and energy sources can be adapted to create bacterial biosensors for the detection of industrial pollution....Full Text Available
Despite the recent success of genome-wide association studies (GWASs) in identifying loci consistently associated with coronary artery disease (CAD), a large proportion of the genetic components of...Full Text Available
BackgroundParathyroid adenomas constitute the most common entity in primary hyperparathyroidism, and although recent advances have been made regarding the underlying genetic cause...Full Text Available
Four cases of unilateral giant breasts from two unrelated families are described. Three of the patients were managed surgically. It is speculated from a review of available published reports that this...Full Text Available
BackgroundSevere sepsis and septic shock are major causes of morbidity and mortality worldwide. In experimental sepsis there is prominent apoptosis of various cell types, and genetic...Full Text Available
BackgroundNon-small cell lung cancer (NSCLC) is the foremost cause of cancer-related death in Western countries, which is due partly to the propensity of NSCLC cells to metastasize....Full Text Available
The incidence of melanoma is increasing more than any other cancer, and knowledge of its genetic alterations is limited. To systematically analyze such alterations, we performed whole-exome...Full Text Available
The effective population size (Ne) is an important parameter in ecology, evolutionary biology and conservation biology. It is, however, notoriously difficult to estimate,...Full Text Available
Objectives7. (b) Objectives General background Livestock production accounts for 70% of the agricultural land on the planet. Given that demand for livestock products is expected to double by 2050 it is vital that we identify less polluting ways of production, spanning both intensive and extensive systems. Northern Europe is one of the few parts of the globe where climate change is expected to be neutral or even benefit agricultural productivity. Hence it is likely to make an even more important co [continued...]DescriptionRuminant genetic improvement can play an important role in developing livestock systems that will be sustainable in the future, and produce food in an environmentally friendly manner. Also, genetic improvement of livestock is a particularly cost-effective technology, producing permanent and cumulative changes in performance. Moran et al (2007) showed the very high value of animal and plant genetics ...
Microbial degradation of aromatic hydrocarbons has been studied with the aim of developing applications for the removal of toxic compounds. Efforts have been directed toward the genetic manipulation...Full Text Available
The programming of cellular networks to achieve new biological functions depends on the development of genetic tools that link the presence of a molecular signal to gene-regulatory activity. Recently,...Full Text Available
BackgroundThere is an ever increasing rate of data made available on genetic variation, transcriptomes and proteomes. Similarly, a growing variety of bioinformatic programs are becoming...Full Text Available
While pleiotropic adaptive mutations are thought to be central for evolution, little is known on the downstream molecular effects allowing adaptation to complex ecologically relevant environments. Here...Full Text Available
Whereas genetic factors are known to influence both susceptibility to carcinogens and the capacity to respond to specific antigenic stimuli, little is known regarding the influence of phenotype per...Full Text Available
Molecular genetic analysis of Borrelia burgdorferi, the cause of Lyme disease, has been hampered by the absence of any means of efficient generation, identification, and complementation...Full Text Available
Many epidemiological evidences have proven the association between smoking and periodontal disease. The causality can be further established by linking findings of traditional epidemiological studies...Full Text Available
DNA barcodes linked to genetic features greatly facilitate screening these features in pooled formats using microarray hybridization, and new tools are needed to design large sets of barcodes to allow...Full Text Available
OBJECTIVEPrevious studies showed that genetic deletion or pharmacological blockade of the receptor for advanced glycation end products (RAGE) prevents the early structural changes...Full Text Available
Despite their ecological and economical importance, fishes of the family Ariidae are still genetically and cytogenetically poorly studied. Among the 133 known species of ariids, only eight have been...Full Text Available
Competent Haemophilus cells recognize and preferentially take up Haemophilus DNA during genetic transformation. This preferential uptake is correlated with the presence on incoming DNA of an 11-base-pair...Full Text Available
Clinical applications of genetic therapies, including delivery of short, interfering RNAs (siRNAs) for RNA interference (RNAi), are limited due to the difficulty of delivering nucleic acids...Full Text Available
Alveolar enlargement, which is characteristic of bronchopulmonary dysplasia, congenital matrix disorders, and cigarette smoke-induced emphysema, is thought to result from enhanced inflammation and ensuing...Full Text Available
The two haploid genome sequences that a person inherits from the two parents represent the most fundamentally useful type of genetic information for the study of heritable diseases and the development...Full Text Available
Comparative genetic maps of Papuan Saccharum officinarum L. (2n = 80) and S. robustum (2n = 80) were constructed by using single-dose...Full Text Available
Phosphorus is an essential mineral that maintains cellular energy and mineralizes the skeleton. Because complex actions of ion transporters and regulatory hormones regulate serum phosphorus concentrations,...Full Text Available
Mechanisms regulating sexual differentiation of the zebra finch song system appear to include both genetic and hormonal factors. Sorting Nexin 2 (SNX2), which is involved in trafficking proteins...Full Text Available
A high-throughput assay for enzyme activity has been developed that is reaction independent. In this assay, a small-molecule yeast three-hybrid system is used to link enzyme catalysis to transcription...Full Text Available
Calcium, vitamin D, exposure to sunshine, and vitamin D receptor (VDR) genotypes have been associated rectal cancer. We used data from 750 rectal tumors and 1,205 population-based...Full Text Available
Although salamanders are characteristic amphibians in Holarctic temperate habitats, in tropical regions they have diversified evolutionarily only in tropical America. An adaptive radiation centered...Full Text Available
The honeybee has been the most important insect species for study of social behavior. The recently released draft genomic sequence for the bee will accelerate honeybee behavioral genetics. Although...Full Text Available
Introduction:Smoking behaviors, including heaviness of smoking and smoking cessation, are known to be under a degree of genetic influence. The enzyme catechol O-methyltransferase...Full Text Available
Familial defective apolipoprotein (apo) B-100 is a genetic disease that leads to hypercholesterolemia and to an increased serum concentration of low density lipoproteins that bind defectively to the...Full Text Available
BackgroundLifestyle, genetics and environmental factors are established determinants of bone density. We aimed to describe the bone characteristics of competitive top-ranked Nigerian...Full Text Available
The Wistar Kyoto (WKY) rat strain is a putative genetic model of comorbid depression and anxiety. Previous research showing increased κ-opioid receptor (KOR)...Full Text Available
PurposeTo report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.MethodsSix...Full Text Available
Pharmacologic or genetic deletion of components of the renin-angiotensin system leads to postnatal kidney injury, but the roles of these components in kidney development are unknown. To test the hypothesis...Full Text Available
BackgroundMany commercial banana varieties lack sources of resistance to pests and diseases, as a consequence of sterility and narrow genetic background. Fertile wild relatives,...Full Text Available
BackgroundType A1 Clostridium botulinum strains are a group of Gram-positive, spore-forming anaerobic bacteria that produce a genetically, biochemically, and biophysically...Full Text Available
BackgroundGenomics has substantially changed our approach to cancer research. Gene expression profiling, for example, has been utilized to delineate subtypes of cancer, and facilitated...Full Text Available
Hundreds of thousands of people worldwide live or work in close proximity to steel mills. Integrated steel production generates chemical pollution containing compounds that can induce genetic damage...Full Text Available
A remarkable discovery of recent years is that, despite the complexity of ageing, simple genetic interventions can increase lifespan and improve health during ageing in laboratory animals. The pathways...Full Text Available
Genetic test systems involving microorganisms and liver enzyme preparations may be insufficient to detect compounds that require breakdown by enzymes provided by the microbial flora of the intestinal...Full Text Available
Reciprocal mass crosses and back-crosses were performed between two homogeneous strains of the housefly (Musca domestica L.), representing the extremes in susceptibility and resistance...Full Text Available
A statistical method is presented for detecting quantitative trait loci (QTLs), based on the linear model. Unlike methods able to detect a few well separated QTLs and to estimate their effects and positions, this method considers the genome as a whole and enables the detection of chromosomal segments involved in the differences between two homozygous lines, and their backcross, doubled haploid, or F[sub 2] progenies, for a quantitative trait. Genetic markers must be codominant, but missing markers are accepted, provided they are missing independently from the experiment. Asymptotic properties, which are of practical use, are developed. This method does not rely on strong genetic hypotheses, and thus does not permit any precise genetic analysis of the trait under study, but it does assess which regions of the genome are involved, whatever the complexity of the genetic determinism (number, effects and ...
BackgroundStable transgenesis is an undeniable key to understanding any genetic system. Retrovirus-based insertional strategies, which feature several technical challenges when they...Full Text Available
During complementary chromatic adaptation (CCA), cyanobacterial light harvesting structures called phycobilisomes are restructured in response to ambient light quality shifts. Transcription of genes...Full Text Available
Picocyanobacteria of the genus Synechococcus are important contributors to marine primary production and are ubiquitous in the world's oceans. This genus is genetically diverse, and...Full Text Available
Fate maps are generated by marking and tracking cells in vivo to determine how progenitors contribute to specific structures and cell types in developing and adult tissue. An advance in this...Full Text Available
...treated for leukemia. B' s physician, who is employed by the HMO, is considering a treatment plan that includes six-mercaptopurine, a drug for treating leukemia in most children. However, the drug could be fatal if taken by a small percentage of...