x-ray-induced chromosome aberrations: Topics by WorldWideScience.org

Chromosome aberrations in human lymphocytes from the plateau region of the Bragg curve for a carbon-ion beam

No abstract prepared

1996-01-01

Chromosomal study in lymphocytes from subjects living or working in buildings constructed with radioactively contaminated rebar

Radiotherapy with high-energy carbon ion beams can be more advantageous compared to photons because of better physical dose distribution and higher biological efficiency in tumour cell sterilization. Despite enhanced normal tissue sparing, damage incurred by normal cells at the beam entrance is unavoidable and may affect the progeny of surviving cells in the form of inheritable cytogenetic alterations. Furthermore, the quality of the beam along the Bragg curve is modified by nuclear fragmentation of projectile and target nuclei in the body. We present an experimental approach based on the use of a polymethylmethacrylate (PMMA) phantom that allows the simultaneous exposure to a particle beam of several biological samples positioned at various depths along the beam path. The device was used to measure the biological effectiveness of a 60 MeV/amu carbon-ion beam at inducing chromosomal aberrations in G{sub 0}-human peripheral blood lymphocytes. ...

2007-06-15

Chromosomal study in lymphocytes from subjects living or working in buildings constructed with radioactively contaminated rebar

It has recently been found that many buildings in Taiwan were constructed with radioactively contaminated rebar, which raised great concern among the residents as well as governmental officials. In order to investigate the possible cytogenetic damage to the residents of contaminated buildings, a G-banding method was carried out on the lymphocytes of 30 radiation-exposed individuals from four families and one office building, as well as 15 control individuals from laboratory personnel. The estimated cumulative radiation doses for the exposed people range from 19.63 to 280.50 mSv. Altogether, 13 females and 17 males belonging to the radiation-exposed group, and 7 females and 8 males in the control group, were included in this study. With the exception of one sample, at least 500 metaphase spreads were scored and analyzed for each individual. All the recognizable structural aberrations of chromosomes or chromatids were recorded and statistically ...

1997-07-03

Trans-generational radiation-induced chromosomal instability in the female enhances the action of chemical mutagens

Distributions of spontaneous chromosomal aberrations and of spontaneous and induced SCE and micronuclei in peripheral lymphocytes from a human population

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 ...

2008-04-02

DNA rearrangements from #gamma#-irradiated normal human fibroblasts preferentially occur in transcribed regions of the genome

Biomonitoring of human populations for exposure to genotoxic/clastogenic agents in the environment or the workplace must depend upon statistical tests for elevations in the frequencies of the biological endpoints being monitored, usually chromosomal aberrations (CA), micronuclei (MN), or sister chromatid exchanges (SCE) in peripheral blood lymphocytes. Statistical tests are based, in turn, upon certain assumptions regarding the distribution of the test statistic. When they are often not recognized as such, tests of significance can be in error, and any conclusion drawn that there is or is not a statistically significant difference between one population sample and another maybe erroneous. In population monitoring this means either false negatives or false positives can result and it is hard to know which is worse. Furthermore, even the intelligent design of studies whose object is to test for an elevated level in an exposed population must ...

1992-12-31

Toxicological safety evaluation of biomolecules and materials transformed by gamma irradiation

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. ...

2003-08-17

New discoveries in prostate cancer pathogenesis

In the bacterial reversion assay with S. typhimurium TA98, TA100, TA1535 and TA1537, gamma irradiated hyaluronic acid (10 and 50 kGy) did not induce a significant increase in the number of revertant colonies in the presence of S9 metabolic activation system. In chromosomal aberration tests with CHO cells, gamma irradiated hyaluronic acid (10 and 50 kGy) did not result in an increase in the frequency of chromosomal aberrations. In vivo mouse micronucleus assay, gamma irradiated hyaluronic acid (10 and 50 kGy) did not show an increase in the frequency of polychromatic erythrocytes with micronuclei. These results indicate that hyaluronic acids irradiated at 10 and 50 kGy did not show any genotoxic effects under these experimental conditions. In order to evaluate their possible subacute toxicity, the male and female of ICR mouse were given to methanol extract of 50 kGy irradiated red ginseng and 20 kGy ...

2010-01-15

Monitoring of DNA and cytogenetic damage in lymphocytes from persons with skin cancer diseases

Background. Through PSA screening the rate of prostate cancers detected at an early stage has increased significantly; thus a decrease in mortality can be expected in the near future. Despite all scientific efforts, however, the molecular mechanisms underlying the development and progression of prostate cancer remain poorly understood. Prostate cancer is a disease of aging men and epidemiological evidence supports a major contribution to its development through diet, lifestyle and environmental factors. Genetic instability is the basic phenomenon of tissue cell cancerisation. This instability can be hereditary or due to mutations and other chromosomal aberrations acquired during life. In recent years a large number of interesting data have been collected which show the relationships between focal atrophy and genetic instability of the prostate epithelia. Atrophy can be the result of prostatitis, ischemia as well as of oxidative stress (diet). ...

Multistep process of neoplastic transformation of normal human fibroblasts by 60Co gamma rays and Harvey sarcoma viruses

There is a lot of interest in the studies that would help to understand whether there is a casual association between cancer and various types of molecular or cytogenetic damage detected in human cells. One major oncogenesis process is activation of proto-oncogenes by point mutations or chromosomal translocation. There are substantial evidence that indicates that the loss of heterozygosity of certain chromosomes is involved in human cancerogenesis. Our study aimed to elicit the possible association between cancer and DNA and cytogenetic abnormalities induced in lymphocytes of people bearing various categories of skin cancer cells. Fresh blood was collected by venipuncture from 25 individuals (including nine prior to cancer treatment). All patients were nonsmoking males, however 42.3 % of them were former smokers. Blood samples were divided into two parts and in the first part of samples cytogenetic studies were performed immediately, while from ...

2004-11-01

Mapping cis-Regulatory Domains in the Human Genome UsingMulti-Species Conservation of Synteny

As reported previously (Namba et al., 1985), normal human fibroblasts were transformed by 60Co gamma-ray irradiation into immortal cells with abnormal karyotypes. These transformed cells (KMST-6), however, showed a low cloning efficiency in soft agar and no transplantability. However, upon treatment with Harvey murine sarcoma virus (Ha-MSV), the cells acquired elevated clonability in soft agar and transplantability in nude mice. Ha-MSV alone, however, did not convert normal human fibroblasts into either immortal or tumorigenic cells. The Ha-MSV-transformed KMST-6 cells showed an enhanced expression of the ras oncogene, but normal and 60Co gamma-ray-transformed cells did not. Our current data suggest that gamma rays worked against normal human cells as an initiator, giving rise to chromosome aberrations and immortality, and that Ha-MSV, probably through its ras oncogene, played a role in the progression of the malignant cell population to a more ...

1986-03-15

Customized computer models of eyes with intraocular lenses

Our inability to associate distant regulatory elements with the genes that they regulate has largely precluded their examination for sequence alterations contributing to human disease. One major obstacle is the large genomic space surrounding targeted genes in which such elements could potentially reside. In order to delineate gene regulatory boundaries we used whole-genome human-mouse-chicken (HMC) and human-mouse-frog (HMF) multiple alignments to compile conserved blocks of synteny (CBS), under the hypothesis that these blocks have been kept intact throughout evolution at least in part by the requirement of regulatory elements to stay linked to the genes that they regulate. A total of 2,116 and 1,942 CBS>200 kb were assembled for HMC and HMF respectively, encompassing 1.53 and 0.86 Gb of human sequence. To support the existence of complex long-range regulatory domains within these CBS we analyzed the prevalence and distribution of chromosomal ...

2005-06-13

The effects of chemicals in the presence of cellophane on X-ray-induced point mutation and gene conversion in Aspergillus midulans

We compared experimental wave aberrations in pseudophakic eyes with aspheric intraocular lenses (IOLs) to simulate aberrations from numerical ray tracing on customized computer eye models using corneal topography, angle ?, ocular biometry, IOL geometry, and IOL tilt and decentration measured on the same eyes. We found high correlations between real and simulated aberrations even for the eye with only the cornea, and these increased on average when the IOL geometry and position were included. Relevant individual aberrations were well predicted by the complete eye model. Corneal spherical aberration and horizontal coma were compensated by the IOL, and in 58.3% of the cases IOL tilt and decentration contributed to compensation of horizontal coma. We conclude that customized computer eye models are a good representation of real eyes with IOLs and allow understanding of the relative ...

2007-03-01

Effects of chemicals in the presence of cellophane on X-ray-induced point mutation and gene conversion in Aspergillus midulans

The presence of washed or unwashed cellophane alone or together with a bleomycin, mitomycin C or hydrochlorothiazide, ('Esidrex') showed no appreciable effect on survival of either unirradiated or irradiated conidia. Irradiation for a period of 20min reduced the survival of conidia to 20%. The growth of irradiated conidia in the presence of bleomycin, mitomycin C or Esidrex is associated with a 2- to 3-fold increase in the frequency of gene convertants, but was not accompanied by an increase in point mutants. When conidia were grown on cellophane but otherwise treated as before the frequency of gene convertants was increased 8-fold, but induction of point mutants was negligible. This effect was the same for irradiated and unirradiated conidia. The environment created by the cellophane in contract with the medium appears to affect the action of each of the three compounds synergistically. (author).

Safety evaluation of Propionibacterium freudenreichii ET-3 culture.

1984-08-01

Natural background radiation induces cytogenetic radioadaptive response more effectively than occupational exposure in human peripheral blood lymphocytes

Propionibacterium freudenreichii ET-3 culture, a cell-free product of whey fermentation using P. freudenreichii ET-3 (7025), has been shown to promote the growth of Bifidobacteria through the action of 1,4-dihydroxy-2-naphthoic acid (DHNA), and therefore, has potential use in the food and supplement industries. Although currently used as a food ingredient in Japan, the safety of this novel ingredient has not been previously evaluated through traditional toxicity testing. Therefore, here we report the results of standard toxicological testing performed on P. freudenreichii ET-3 culture. In a 4-week oral toxicity study, administration of 6000mg/kg body weight/day P. freudenreichii ET-3 culture was without compound-related adverse effects on clinical signs, body weights, food consumption, ophthalmology, hematology, clinical chemistry, urinalysis, organ weights, and gross and microscopic findings in male and female Sprague-Dawley rats. Furthermore, in vitro mutagenicity testing ...

2011-03-22

Cytogenetic effects of protracted gamma exposures from conception of male mice

Ramsar, a city in the northern Iran, has the highest level of natural background radiation in the world. It has been clearly shown that low doses of ionising radiation can induce resistance to subsequent higher exposures. This phenomenon is termed radioadaptive response. We have compared induction of cytogenetic radioadaptive response by High Natural Background Radiation (HNBR) in Ramsar and X-ray occupational exposure as conditioning doses in human peripheral blood lymphocytes. 30 healthy control individuals, living in Ramsar but in normal background radiation areas, 15 healthy individuals from Talesh Mahalleh, a region with extraordinary high level of background radiation, and 7 X-ray radiographers working in Ramsar hospital located in normal natural background ionising radiation area were evaluated. Peripheral blood samples were prepared and exposed to challenge dose of 0 and 2 Gy. Lymphocytes were scored using analysis of metaphase, for the presence of ...

2003-01-01

Occurrence of mutations in the epidermal growth factor receptor gene in X-ray-induced rat lung tumors

In order to gain an overall picture of the genetic effects of an increased level of background radiation it is necessary to study the results of protracted exposures to embryonic and immature germ-cell stages as well as to stages found in the mature organism. For this purpose, litters produced by female mice, kept in a 10 or 20 rad/day /sup 60/Co ..gamma..-irradiation field, were kept in the same fields from conception until about 60 days later, having absorbed doses of 526 and 1078 rad respectively. Tests on exposed female offspring showed them to be sterile. Eight weeks after removal from the gamma field, mean testis masses of males in the 20 rad/day series were only half normal but those receiving 10 rad/day were little affected. Frequencies of translocations in spermatocytes at diakinesis/metaphase I were only slightly increased in the exposed series, differences not being significant. Estimated rates of translocation induction were around 5 x 10sup(-6) per rad, about one-third of ...

1982-01-01

Ionizing radiation-induced mutation of human cells with different DNA repair capacities

Epidermal growth factor receptor (EGFR) gene alterations have been found in human lung cancers. However, there is no information on the factors inducing EGFR mutations. In rodents, K-ras mutations are frequently found in many lung carcinogenesis models, but hitherto, Egfr mutations have not been reported. Their presence was therefore investigated in representative lung carcinogenesis models with 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), N-nitrosobis(2-hydroxypropyl)amine (BHP), 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MelQx) and ethyl carbamate (urethane), as well as X-ray irradiation. With the chemical carcinogenesis models, no mutations were detected in Egfr, which is in clear contrast to the high rates observed in either codon 12 or 61 of K-ras (21/23 of the lung tumors induced with NNK, 4/5 with MelQx, 1/4 with urethane and 7/18 with BHP). However, in the X-ray-induced lung tumors, Egfr mutations with amino acid substitution were observed in ...

2008-02-01

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Apoptotic pathways as regulators of recombination

We have observed significant differences in the response to ionizing radiation of two closely related human cell lines, and now compare the effects on these lines of both low and intermediate LET radiation. Compared to TK6, WTK1 has an enhanced X-ray survival, and is also more resistant to cell killing by {alpha}-particles. The hprt locus is more mutable in WTK1 than in TK6 by both X-rays and {alpha}-particles. WTK1 is also more mutable by {alpha}-particles than by X-rays at the hprt locus. X-ray-induced mutation at the heterozygous tk locus in WTK1 is about 25 fold higher than in TK6, while {alpha}-particle-induced mutation is nearly 50 fold higher at this locus. Also, the slowly growing tk- mutants, which comprise the majority of spontaneous and X-ray-induced tk- mutants of TK6, were not induced significantly by {alpha}-particles. Previously, we showed that TK6 has a reduced capacity for recombination compared with WTK1, and therefore, these ...

1994-12-31

A diagnostic survey of infants referred for chromosome analysis in the neonatal period.

Apoptosis, or programmed cell death (PCD), is a fundamental process that protects organismal integrity. In earlier work, we demonstrated that over-expression of either of two anti-apoptotic members of the BCL-2 family (BCL-2 or BCL-X L could elevate the frequency of radiation-induced mutations at the autosomal TK1 locus in human TK6 lymphoblasts that express wild-type TP53. Ectopic expression of BCL-X L also elevated the frequencies of double-strand break-induced gene conversion. The purpose of this study is to determine if BCL-2 family proteins promote radiation mutagenesis indirectly through their suppression of PCD, or whether the 'pro-mutagenic' function of these proteins can be separated from their anti-apoptotic function. We developed stable transfectants of TK6 cells that express a mutated form of BCL-X L with a single amino acid substitution in the BH1 domain that is known to interfere with the ability to suppress PCD (BCL-X L gly159ala). We also developed stable transfectants ...

2003-08-17

Regulation of Senescence in Cancer and Aging

Examination and assessment of 140 liveborn and stillborn infants referred within two weeks of birth for chromosome analysis showed that 48 had Down's syndrome, 12 other chromosome abnormalities, 17...Full Text Available

1980-10-18

On the impact of low power density microwaves in some living tissues

Senescence is regarded as a physiological response of cells to stress, including telomere dysfunction, aberrant oncogenic activation, DNA damage, and oxidative stress. This stress response has an antagonistically...Full Text Available

Theoretical modelling of X-ray fluorescence signals for different lunar compositions and dependence on solar activity

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 effects of microwave ...

2006-07-01

British Library Electronic Table of Contents (United Kingdom)

We present a forward modelling technique for calculating the surface X-ray spectra for a variety of lunar terrains. Our calculations considered variations in solar fluxes from solar quiescent condition to large flare activity (M1 flare), and expected elemental concentrations in the target, as well as yield, instrumental, and viewing geometry parameters for X-ray induced fluorescence from the lunar surface. Additionally, we present estimates of anticipated XRF signals from prominent Ka lines observable by a collimated 14cm2 X-ray detector from a 100km lunar orbit with 20km spatial resolution. Our results show that Mg, Al and Si characteristic Ka lines can be observed for all solar conditions. The Ca Ka lines line can be differentiated from a fixed background during more energetic solar cond...

2010-01-01

How epitaxial are Pd/sub 2/Si-Si interfaces

Mapping QTL for agronomic traits on wheat chromosome 3A and a comparison of recombinant inbred chromosome line populations

Pd/sub 2/Si layers produced by evaporation or sputtering onto silicon substrates were examined by high resolution electron microscopy, microdiffraction, X-ray, energy loss and Auger spectroscopy. The Si-Pd/sub 2/Si interfaces produced by evaporation were in all cases rougher and more polycrystalline than those produced by sputtering. X-ray microanalysis showed the predictable variation in palladium distribution across the interface but quantification did not produce the expected palladium-to-silicon ratios, primarily because of probe broadening and X-ray-induced fluorescence. Energy loss spectra showed plasmon energy shifts and changes in Si L edge shape due to bond formation with palladium. Auger data provided evidence for a small amount of oxygen at the Si-Pd/sub 2/Si interface. Electrical measurements of the ideality factor for Schottky barriers made from the materials produced higher values for the rougher evaporation-formed interfaces consistent with ...

1983-06-17

DNA, Genes and Chromosomes

Variation for wheat (Triticum aestivum L.) grain yield and its component traits was documented in a `Cheyenne¿ x Cheyenne (`Wichita¿ 3A) recombinant inbred chromosome line population. In the present study, a population of 223 Cheyenne (Wichita 3A) recombinant inbred chromosome lines was used to map ...

Cytogenetic Analysis Using Mitosis, Meiosis Chromosomes and bicolor Fluorescence in situ Hybridization of Bupleurum latissimum Nakai

Today you will learn about the parts of DNA and what DNA, genes and chromosomes are. Today you will learn what DNA, genes and chromosomes are and the parts of the DNA molecule. Look at all of the websites, take whatever notes you need to. At the end of the assignment, be able to describle DNA, the parts of DNA, genes and chromosomes. Covers Biology Core Curriculum, ...

2007-11-07

KoreaScience (Korea)

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2006-12-01

Comparison between DNA damage investigated by the ''Comet'' assay and chromosomal damage induced in human lymphocytes by radiation and chemicals

Chromosome Numbers and Karyotype Analyses for 33 Taxa of Medicinal Plants in Korea

Short communication.

1995-08-20

KoreaScience (Korea)

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2008-06-01

Chromosomal Analysis of Meiosis and Mitosis in New Zealane White Rabbit

KoreaScience (Korea)

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2001-08-01

Analysis of chromosomal localization of loci controlling milk production traits in cattle

British Library Electronic Table of Contents (United Kingdom)

Analysis of the pattern of the chromosomal localization of quantitative trait loci (QTLs) is necessary for comprehensively understanding their functions. The chromosomal localization of QTLs controlling milk production traits has been studied in cattle chromosomes. The distribution of QTLs between chromosomes has proved to be binomial. Their distribution along each chromosome was, in general, uniform, except for the QTLs controlling the somatic cell score (SCS), which tended towards telomeric location. However, there are chromosomes either enriched with or particularly poor in QTLs. The QTL distribution patters are the most similar for the milk yield (M) and milk protein yield (P) and for milk fat yield (F) and milk fat content (%F). The pattern of the SCS QTLs stands out among those of ot...

2008-01-01

Sequences homologous to the human x- and y-borne zinc finger protein genes (ZFX/Y) are autosomal in monotreme mannals

Flow cytogenetics methodology and applications

The human zinc finger protein genes (ZFX/Y) were identified as a result of a systematic search for the testis-determining factor gene on the human Y chromosome. Although they play no direct role in sex determination, they are of particular interest because they are highly conserved among mammals, birds, and amphibians and because, in eutherian mammals at least, they have active alleles on both the X and the Y chromosomes outside the pseudoautosomal region. We used in situ hybridization to localize the homologues of the zinc finger protein gene to chromosome 1 of the Australian echidna and to an equivalent position on chromosomes 1 and 2 of the playtpus. The localization to platypus chromosome 1 was confirmed by Southern analysis of a Chinese hamster [times] platypus cell hybrid retaining most of platypus chromosome 1. This localization is consistent with the ...

1993-02-01

Fabrication and characterization of low aberration micrometer-sized electron lenses

Flow cytogenetics is a rapidly developing technology which complements rather than supplants the traditional methods of cytogenetic analysis. As an adjunctive approach to chromosome classification, flow systems measurements of isolated chromosomes give new information relative to the enrichment of A-T or G-C base sequences on specific chromosomes. As a result, chromosomal fluorescence polymorphisms both within and among individuals that are not always associated with banding polymorphisms can be detected. Finally, flow sorting provides bulk quantities of highly purified chromosomes for use in biochemical studies. Methodology is detailed. (PSB)

1982-10-17

British Library Electronic Table of Contents (United Kingdom)

Intrinsic spherical aberrations of electron lenses have been the major resolution limiting factor in electron microscopes for several decades. While effective correctors have recently been implemented, an alternative to correct these aberrations is to circumvent them by scaling down lens dimensions by several orders of magnitude. We have fabricated electrostatic lenses exhibiting one micrometer diameter apertures and evaluated their beam forming properties against predictions from numerical ray tracing simulations. It turns out that it is routinely possible to shape a paraxial low-energy electron beam by such micron-sized lenses. Beam profiles have been measured both at a distant detector as well as in a plane close to the lens. It is shown that the lens can form a parallel beam extending ...

2010-01-01

Ultrasmall spot size scanning laser ophthalmoscopy

Ubiquitin over-expression phenotypes and ubiquitin gene molecular misreading during aging in Drosophila melanogaster

An ultrasmall spot size scanning laser ophthalmoscope has been developed that employs an annular aberration-corrected incident beam to increase the effective numerical aperture of the eye thereby reducing...Full Text Available

Synaptic Signaling and Aberrant RNA Splicing in Autism Spectrum Disorders

Molecular Misreading (MM) is the inaccurate conversion of genomic information into aberrant proteins. For example, when RNA polymerase II transcribes a GAGAG motif it synthesizes at low frequency RNA...Full Text Available

Substance Misuse Treatment for High Risk Chronic Pain Patients on Opioid Therapy: A Randomized Trial

Interactions between presynaptic and postsynaptic cellular adhesion molecules (CAMs) drive synapse maturation during development. These trans-synaptic interactions are regulated by alternative splicing...Full Text Available

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Structural aberrations in group A Staphylococcus bacteriophages.

Chronic pain patients who show aberrant drug-related behavior often are discontinued from treatment when they are noncompliant with their use of opioids for pain. The purpose of this study was...Full Text Available

2010-09-01

Poland's anomaly. Natural history and long-term results of chest wall reconstruction in 33 patients.

Six related Staphylococcus phages spontaneously produced various abnormal head and tail structures: (i) giant capsids which were tailed and apparently contained nucleic acid; (ii) regular and irregular...Full Text Available

1976-05-01

Number of aberrant crypt foci associated with adiposity and IGF1 bioavailability

Poland's anomaly is an uncommon congenital aberration of the chest wall characterized by absence of the pectoralis major muscle and other nearby musculoskeletal components. In this series, a wide spectrum...Full Text Available

1988-12-01

Nonsteroidal Anti-Inflammatory Drugs for Wounds: Pain Relief or Excessive Scar Formation?

BackgroundDysregulation of the insulin-like growth factor (IGF) system, a common consequence of adiposity-induced insulin resistance, may be a key underlying mechanism...Full Text Available

2009-07-01

Intrinsic expression of host genes and intronic miRNAs in prostate carcinoma cells

The inflammatory process has direct effects on normal and abnormal wound healing. Hypertrophic scar formation is an aberrant form of wound healing and is an indication of an exaggerated function of...Full Text Available

2010-01-01

Genetic Heterogeneity in Severe Congenital Neutropenia: How Many Aberrant Pathways Can Kill a Neutrophil?

BackgroundRecent data show aberrant and altered expression of regulatory noncoding micro (mi) RNAs in prostate cancer (PCa). A large number of miRNAs are encoded in organized intronic...Full Text Available

Developmental abnormalities and epimutations associated with DNA hypomethylation mutations.

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

2007-12-01

An integrative multi-dimensional genetic and epigenetic strategy to identify aberrant genes and pathways in cancer

A number of aberrant morphological phenotypes were noted during propagation of the Arabidopsis thaliana DNA hypomethylation mutant, ddm1, by repeated self-pollination. Onset of a spectrum of morphological...Full Text Available

1996-10-29

Aberrant repair and fibrosis development in skeletal muscle

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

A novel role of the aryl hydrocarbon receptor (AhR) in centrosome amplification - implications for chemoprevention

The repair process of damaged tissue involves the coordinated activities of several cell types in response to local and systemic signals. Following acute tissue injury, infiltrating inflammatory cells...Full Text Available

A non-radioactive dot-blot assay for transglutaminase activity

BackgroundCentrosome aberrations can cause genomic instability and correlate with malignant progression in common human malignancies such as breast and prostate cancer. Deregulation...Full Text Available

YAPI, a New Yersinia pseudotuberculosis Pathogenicity Island

Aberrant transglutaminase (TG) activity has been implicated in the pathology of numerous diseases including Huntington disease and Alzheimer disease. To fully characterize the role of TGs in...Full Text Available

2009-07-01

The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome

Pathogenicity islands (PAIs) are chromosomal clusters of pathogen-specific virulence genes often found at tRNA loci. In the Yersinia pseudotuberculosis 32777 chromosome, we characterized...Full Text Available

2004-08-01

Misregulation of the Kinesin-like Protein Subito Induces Meiotic Spindle Formation in the Absence of Chromosomes and Centrosomes

FRAXA is one of a number of fragile sites in human chromosomes that are induced by agents like fluorodeoxyuridine (FdU) that affect intracellular thymidylate levels. FRAXA coincides with a >200...Full Text Available

2009-07-01

Identification of a Copper-Responsive Two-Component System on the Chromosome of Escherichia coli K-12

Bipolar spindles assemble in the absence of centrosomes in the oocytes of many species. In Drosophila melanogaster oocytes, the chromosomes have been proposed to initiate spindle assembly...Full Text Available

2007-09-01

Highly Conserved Regimes of Neighbor-Base-Dependent Mutation Generated the Background Primary-Structural Heterogeneities along Vertebrate Chromosomes

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

2000-10-01

Genome-wide profiling of forum domains in Drosophila melanogaster

The content of guanine+cytosine varies markedly along the chromosomes of homeotherms and great effort has been devoted to studying this heterogeneity and its biological implications. Already...Full Text Available

Extensive synteny conservation of holocentric chromosomes in Lepidoptera despite high rates of local genome rearrangements

Forum domains are stretches of chromosomal DNA that are excised from eukaryotic chromosomes during their spontaneous non-random fragmentation. Most forum domains are 50–200 kb in length....Full Text Available

2011-05-01

Controlled Somatic and Germline Copy Number Variation in the Mouse Model

The recent assembly of the silkworm Bombyx mori genome with 432 Mb on 28 holocentric chromosomes has become a reference in the genomic analysis of the very diverse Order of Lepidoptera....Full Text Available

2010-04-27

Chromosome substitution reveals the genetic basis of Dahl salt-sensitive hypertension and renal disease

Changes in the number of chromosomes, but also variations in the copy number of chromosomal regions have been described in various pathological conditions, such as cancer and aneuploidy, but also in...Full Text Available

2010-09-01

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Chromosome location of Oryza sativa recombination linkage groups.

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

2008-09-01

Chromosomal sites for hepatitis B virus integration in human hepatocellular carcinoma.

In situ hybridization, a powerful tool for the molecular cytogeneticist, can be used to physically map repetitive, low-copy, and unique DNA sequences in plant chromosomes. With the availability of a...Full Text Available

1992-09-15

Characterization of a Chromosomally Encoded Extended-Spectrum Class A ?-Lactamase from Kluyvera cryocrescens

The discovery that hepatitis B virus (HBV) integrates into host chromosomes raises the question of whether such viral DNA integration correlates directly with the activation of specific oncogenes or...Full Text Available

1991-12-01

Bacterial Artificial Chromosome Mutagenesis Using Recombineering

A chromosomally located β-lactamase gene, cloned and expressed in Escherichia coli from a reference strain of the enterobacterial species Kluyvera cryocrescens,...Full Text Available

2001-12-01

The nanoworld through aberration corrected lenses

Gene expression from bacterial artificial chromosome (BAC) clones has been demonstrated to facilitate physiologically relevant levels compared to viral and nonviral cDNA vectors. BACs are large enough...Full Text Available

2011-01-01

The effect of mitochondrial dysfunction on cytosolic nucleotide metabolism

The advent of aberration correction for electron microscope lenses has produced a significant advance in the improvement of resolution in microscopy. This improvement, while significant in itself, promises to have its most profound impact in materials science when it delivers quantitative information to challenge models and modellers. This capability for an electron microscope-modelling synergy to deliver useful results at the atomic level is not yet firmly established. For this reason, one of the major challenges for electron microscopy in materials science over this decade is to study systems where electron microscopists and modellers can work collaboratively. This paper explores some examples.

2010-07-01

DEFF Research Database (Denmark)

Several enzymes of the metabolic pathways responsible for metabolism of cytosolic ribonucleotides and deoxyribonucleotides are located in mitochondria. Studies described in this paper suggest dysfunction of the mitochondria to affect these metabolic pathways and limit the available levels of cytosolic ribonucleotides and deoxyribonucleotides, which in turn can result in aberrant RNA and DNA synthesis. Mitochondrial dysfunction has been linked to genomic instability, and it is possible that the limiting effect of mitochondrial dysfunction on the levels of nucleotides and resulting aberrant RNA and DNA synthesis in part can be responsible for this link. This paper summarizes the parts of the metabolic pathways responsible for nucleotide metabolism that can be affected by mitochondrial dysfunction.

2010-01-01

Smart Acquisition EELS

Effects of gamma irradiation on the sperm transmission and oviposition response in Helicoverpa armigera (L. NOCTUIDAE)

Electron energy loss (EEL) spectroscopy and high angle annular dark field (HAADF) imaging in aberration-corrected electron microscopes are powerful techniques to determine the chemical composition and structure of materials at atomic resolution. We have implemented Smart Acquisition, a flexible system of scanning transmission electron microsocpy (STEM) beam position control and EELS collection, on two aberration-corrected dedicated cold field emission gun (FEG) STEMs located at SuperSTEM, Daresbury Laboratory. This allows the collection of EEL spectra from spatially defined areas with a much lower electron dose possible than existing techniques such as spectrum imaging.

2010-07-01

Chromosomal damage in human lymphocytes from radio-isotope therapy

Transmissions of sperm by unirradiated and irradiated cotton bollworm, Helicoverpa armigera, were studied by live dissection of females immediately after the initiation of mating. In cotton bollworm the sperm transfer was rather a complex process. In fact unirradiated males failed to transfer sperm in about 19% of their matings. When irradiated with 250 Gy and 400 Gy, aberrations of sperm transmission were about 21% and 50% respectively. The failure of spermatophore 'cap' location was an important reason of sperm transmission aberrations. When females mated to high-dose-irradiated males, their oviposition response appeared abnormal

2002-02-01

(Dec 1973). United Kingdom Stevenson, AC Medical Research Council, Oxford

Molecular methods

Use of surface affinity enrichment and cryo-embedding to prepare in vitro reconstituted mitotic chromosomes for EM tomography

Chapter 5, describes some of the most important molecular methods used in the study of chromosome structure and function. The methods discussed include fragmentation of DNA, cloning, flow cytometry and chromosome sorting, is situ hybridization, polymerase chain reaction (PCR), and yeast artificial chromosomes (YACs). 18 refs., 3 figs., 1 tab.

1993-12-31

Human type I pituitary adenylate cyclase activating polypeptide receptor (ADCYAP1R): Localization to chromosome band 7p14 and integration into the cytogenetic, physical, and genetic map of chromosome 7

We present a novel preparation method for studies of in vitro reconstituted mitotic chromosomes from Xenopus laevis egg extracts. This method involves a gentle adsorption of chromosomes from the extracts using surface affinity enrichment, followed by plunge freezing, freeze-substitution and cryo-embedding before examination by EM tomography. For comparison, chromosomes were also prepared by a conventional method, which included immobilization of chromosomes in agarose and a room-temperature dehydration (embedding) protocol. Three-dimensional reconstructions showed that samples prepared with the new method have a greater interconnectivity of sub-structural features and a higher compaction ratio together with an apparently less perturbed chromatin structure than those prepared using the conventional approach. The implications of the new method for the preparation of other difficult samples and additional ...

2005-07-15

Chromosomal mapping of excessive physical activity in mice in response to a restricted feeding schedule

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.

1994-10-01

British Library Electronic Table of Contents (United Kingdom)

Excessive physical activity plays an important role in the progression of anorexia nervosa (AN) by accelerating weight loss during dietary restriction. To search for mechanisms underlying this trait, a panel of mouse chromosome substitution strains derived from C57BL/6J and A/J strains was exposed to a scheduled feeding paradigm and to voluntary running wheel (RW) access. Here, we showed that A/J chromosomes 4, 12 and 13 contribute to the development of a disrupted RW activity in response to daily restricted feeding. This pattern is characterized by intense RW activity during the habitual rest phase and leads to accelerated body weight loss. Regions on mouse chromosomes 4, 12 and 13 display homology with regions on human chromosomes linked with anxiety and obsessionality in AN cohorts. The...

2010-01-01

Chromosomal localization and structure of the human type II IMP dehydrogenase gene

Physical mapping of human chromosome 16. Annual progress report

We determined the chromosomal localization and structure of the gene encoding human type II inosine 5{prime}-monophosphate dehydrogenase (IMPDH, EC 1.1.1.205), an enzyme associated with cellular proliferation, malignant transformation, and differentiation. Using polymerase chain reaction (PCR) primers specific for type II IMPDH, we screened a panel of human-Chinese hamster cell somatic hybrids and a separate deletion panel of chromosome 3 hybrids and localized the gene to 3p21.1{yields}p24.2. Two overlapping yeast artificial chromosome clones containing the full gene for type II IMPDH were isolated and a physical map of 117 kb of human genomic DNA in this region of chromosome 3 was constructed. The gene for type II IMPDH was localized and oriented on this map and found to span no more than 12.5 kb.

1994-05-01

Chromosomal localization of the human retinoid X receptors

We aim to isolate cDNAs mapping to human chromosome 16 and localise such cDNAs on the high resolution physical map. In collaboration with LANL, PCR primers will be synthesised from cDNA sequences mapped to chromosome 16 and used as ESTs in the generation of mega-YAC contigs for this chromosome. Probing of high density cosmid grids will enable integration of the ESTs into cosmid contigs and location of the cosmid contigs on the YAC contig. A hn-cDNA library has been constructed from the hybrid CY18 which contains chromosome 16 as the only human chromosome. A modified screening protocol has been successfully developed and 15 hn-cDNA clones have been sequenced and localised on the hybrid map. Sequence analysis of four of these revealed that they were known cDNAs, which are now mapped to chromosome 16. Development of techniques to allow the isolation of longer cDNAs ...

1993-08-01

Fractionation of combined heat and radiation in asynchronous CHO cells. II. The role of cell-cycle redistribution

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 ...

1994-04-01

Fabrication and characterization of low aberration micrometer-sized electron lenses.

Asynchronous Chinese hamster ovary (CHO) cells treated with conditioning hyperthermia (10 min at 45/sup 0/C) followed immediately by x irradiation with 4 Gy at room temperature display a decreased radiation response when either irradiated, or heated and irradiated again 24 h later. In addition, conditioning by 4 Gy of x radiation alone followed at 24 h by the combined heat and radiation treatment als resulted in a larger radiation D/sub 0/. Since the differential cell-cycle responses to heat- and x-ray-induced lethality are well established for CHO cells, the potential role of cell-cycle redistribution in the observed radiation desensitization was investigated by flow cytometry. At 24 h after the combined treatment, the fraction of the cells found in the G/sub 2/ + M portion of the DNA histograms was about three times that of the controls and there was a concomitant reduction in both the G/sub 1/ and S fractions. Similar observations were made after the ...

1979-11-01

Report on the Second International Workshop on Human Chromosome 9

2010-04-24

Chromosomal localization and cDNA sequence of human BTEB, a GC box binding protein

The Second International Workshop on Human Chromosome 9 was held in Chatham, Massachusetts on April 18--20, 1993. Fifty-three abstracts were received and the data presented on posters. The purpose of the meeting was to bring together all interested investigators working on the map of chromosome 9, many of whom had disease-specific interests. After a brief presentation of interests and highlighted results, the meeting broke up into the following subgroups for production of consensus maps: 9p; 9cen-q32; 9q32 ter. A global mapping group also met. Reports of each of these working groups is presented in the summary.

1993-12-31

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16

Towards atomic scale engineering of rare-earth-doped SiAlON ceramics through aberration-corrected scanning transmission electron microscopy

Human BTEB cDNA clones have been isolated, sequenced, and the corresponding gene has been assigned to human chromosome 9, region q13, by fluorescent in situ hybridization and DNA blot analysis using DNAs from hybrid cell clones containing a single human chromosome. The cDNA clone encodes a polypeptide of 244 amino acids whose sequence shows a high sequence similarity with the rat BTEB (98% amino acid identity).

1993-09-01

British Library Electronic Table of Contents (United Kingdom)

Direct visualization of rare earths in @a- and @b-SiAlON unit-cells is performed through Z-contrast imaging technique in an aberration-corrected scanning transmission electron microscope. The preferential occupation of Yb and Ce atoms in different interstitial locations of @b-SiAlON lattice is demonstrated, yielding higher solubility for Yb than Ce. The triangular-like host sites in @a-SiAlON unit cell accommodate more Ce atoms than hexagonal sites in @b-SiAlON. We think that our results will be applicable as guidelines for many kinds of rare-earth-doped materials.

2011-01-01

International Lens Design Conference, Monterey, CA, June 11-14, 1990, Proceedings

Contrast Sensitivity and Optical Quality of the Eye after Instillation of Timolol Maleate Gel-Forming Solution and Brinzolamide Ophthalmic Suspension

The present conference on lens design encompasses physical and geometrical optics, diffractive optics, the optimization of optical design, software packages, ray tracing, the use of artificial intelligence, the achromatization of materials, zoom optics, microoptics and GRIN lenses, and IR lens design. Specific issues addressed include diffraction-performance calculations in lens design, the optimization of the optical transfer function, a rank-down method for automatic lens design, applications of quadric surfaces, the correction of aberrations by using HOEs in UV and visible imaging systems, and an all-refractive telescope for intersatellite communications. Also addressed are automation techniques for optics manufacturing, all-reflective phased-array imaging telescopes, the thermal aberration analysis of a Nd:YAG laser, the analysis of illumination systems, athermalized FLIR optics, and the design of array systems using shared symmetry.

1990-01-01

British Library Electronic Table of Contents (United Kingdom)

Purpose To investigate the influence of timolol maleate 0.5% gel-forming solution and brinzolamide 1% ophthalmic suspension on contrast sensitivity, ocular higher-order aberration (HOA), and corneal surface light scattering. Design Prospective, comparative study. Participants Forty normal volunteers were enrolled in this study. Methods We evaluated contrast sensitivity, ocular HOA, and corneal light scattering before and 2, 5, 10, and 15 minutes after instillation of antiglaucoma eyedrops. Contrast sensitivity function was assessed with the CSV-1000RN chart (Vector Vision Co., Greenville, OH). Higher-order aberration was measured for a 4-mm pupil using the Hartmann-Shack aberrometer (KR-9000PW; Topcon, Tokyo, Japan). Corneal surface light scattering was quantitatively evaluated by using th...

2010-01-01

Y Chromosome microdeletion and altered sperm quality in human males with high concentration of seminal hexachlorocyclohexane (HCH)

British Library Electronic Table of Contents (United Kingdom)

Recent studies have shown Y chromosome microdeletions associated with male infertility. The factors responsible for Y chromosome microdeletions in spermatozoa remain unresolved. However, the environmental pollutants are known to damage DNA in differentiating and maturing germ cells in the male reproductive tract. Therefore, the aim of this study was to investigate the effects of seminal hexachlorocyclohexane (HCH) and its isomers, an environmental pollutant, in 50 fertile and 50 infertile males in relation to semen quality and the incidence of Y chromosome microdeletion in azoospermic factor (AZF) region. As compared to control, an increased HCH level and significantly decreased semen quality were observed in the infertile males. A positive significant association was found between sperm c...

2010-01-01

Telomeres in cancer and ageing

Sleeping Beauty Transposition From Nonintegrating Lentivirus

Telomeres protect the chromosome ends from unscheduled DNA repair and degradation. Telomeres are heterochromatic domains composed of repetitive DNA (TTAGGG repeats) bound to an array of specialized...Full Text Available

2011-01-12

Plasticity in patterns of histone modifications and chromosomal proteins in Drosophila heterochromatin

Lentiviral vectors enter cells with high efficiency and deliver stable transduction through integration into host chromosomes, but their preference for integration within actively transcribing genes...Full Text Available

2009-07-01

Evidence for Epigenetic Interactions for Loci on Mouse Chromosome 1 Regulating Open Field Activity

Eukaryotic genomes are packaged in two basic forms, euchromatin and heterochromatin. We have examined the composition and organization of Drosophila melanogaster heterochromatin in...Full Text Available

2011-02-01

British Library Electronic Table of Contents (United Kingdom)

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...

2009-01-01

Epigenetic regulation of autosomal gene expression by sex chromosomes

British Library Electronic Table of Contents (United Kingdom)

Males and females display differences in physiology, behaviour and susceptibility to many diseases. Genome-wide transcription profiling studies have uncovered large-scale sex differences in autosomal gene expression in somatic tissues that are thought to underlie such 'sexual dimorphisms'. Because males and females differ genetically mainly in their sex chromosome complement, most sex differences can be traced back to the X and Y chromosomes. Although sex hormones are usually considered the main architects of sexual dimorphisms, recent studies have demonstrated that sex chromosomes can also induce sex differences in somatic gene expression in the absence of hormonal differences. The recent discovery of epigenetic sex differences that are not hormone-induced brings us closer to understandin...

2011-01-01

Browse Conditions - Genetics Home Reference

Abnormal chromosome repair and risk of developing cancer.

Home A service of the U.S. National Library of Medicine® Home Conditions Genes Chromosomes Handbook Glossary Resources Genetic Conditions > Browse Conditions 1-9 | A | B | C...

2011-09-24

Contribution of the ion-energy distribution to the current-density distribution of a focused-ion beam

Several scientists have proposed that DNA repair deficiencies and the induction of a mutator phenotype are responsible for the generation of multiple mutagenic alterations in cancer cells. I propose...Full Text Available

1993-10-01

Contribution of the ion-energy distribution to the current-density distribution of a focused-ion beam

A general expression for the current-density distribution of a focused-ion beam (FIB) in the chromatic-aberration region is set up in the form of a definite integral. With the experimentally obtained ion-energy distribution of a liquid-metal ion source, its contribution to the FIB current-density distribution is estimated. Calculated results explain the wide-exponential tail of a FIB.

1987-09-01

Amplified B Lymphocyte CD40 Signaling Drives Regulatory B10 Cell Expansion in Mice

The tumor suppressor gene KCTD11^RENis regulated by Sp1 and methylation and its expression is reduced in tumors

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

The k43 gene, required for chorion gene amplification and diploid cell chromosome replication, encodes the Drosophila homolog of yeast origin recognition complex subunit 2

A hallmark of several human cancers is loss of heterozygosity (LOH) of chromosome 17p13. The same chromosomal region is also frequently hypermethylated in cancer. Although loss of 17p13 has been often...Full Text Available

The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding.

Lethal alleles of the Drosophila k43 gene result in small or missing imaginal discs, greatly reduced mitotic index, and fragmented and abnormally condensed chromosomes. A female-sterile...Full Text Available

1997-04-15

Novel Staphylococcal Cassette Chromosome mec Type, Tentatively Designated Type VIII, Harboring Class A mec and Type 4 ccr Gene Complexes in a Canadian Epidemic Strain of Methicillin-Resistant Staphylococcus aureus?

We have isolated and sequenced cDNA clones encoding the human U1-70K snRNP protein, and have mapped this locus (U1AP1) to human chromosome 19. The gene produces two size classes of RNA, a major 1.7-kb...Full Text Available

1987-12-23

Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels

Staphylococcal cassette chromosome mec (SCCmec) is a mobile genetic element characterized by flanking terminal direct and, in most cases, inverted repeat sequences,...Full Text Available

2009-02-01

100

Chromosome-Encoded Ambler Class A ?-Lactamase of Kluyvera georgiana, a Probable Progenitor of a Subgroup of CTX-M Extended-Spectrum ?-Lactamases

Genome sequences are essential tools for comparative and mutational analyses. Here we present the short read sequence of mouse chromosome 17 from the Mus musculus domesticus derived...Full Text Available

2009-01-01

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101

A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates

A chromosome-encoded β-lactamase gene, cloned and expressed in Escherichia coli from Kluyvera georgiana reference strain CUETM 4246-74 (DSM 9408), encoded the...Full Text Available

2002-12-01

102

Smooth muscle myosin heavy chain locus (MYH11) maps to 16p13. 13-p13. 12 and establishes a new region of conserved synteny between human 16p and mouse 16

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

1991-05-01

103

Targeted integration of baboon endogenous virus in the BEVI locus on human chromosome 6.

The human smooth muscle myosin heavy chain locus (MYH11) was mapped by fluorescence in situ hybridization to the middle of the p arm of chromosome 16 using a genomic cosmid clone containing coding sequences of the gene as probe. Probe from coding sequence, when applied to Southern blots of a panel of hybrids containing different portions of human chromosome 16, localized the gene to 16p13.13-13.12. Coding sequence PCR primers, when used on the DNA from a CHO-mouse hybrid clone mapping panel informative for mouse chromosomes, showed that the gene was located on mouse chromosome 16. These results correct a recent assignment of MYH11 from 16q12.2 to the region of the 16p-arm inversion breakpoint seen in acute myelomonocytic leukemia (AMML) M4Eo and demonstrate that the conflicting data do not result from the presence of additional MYH genes on the q arm of the chromosome. Also, a new ...

1993-10-01

104

Molecular pathology of tumor-initiating cells: Lessons from Philadelphia chromosome-positive leukemia

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

1983-01-13

105

British Library Electronic Table of Contents (United Kingdom)

Recent improvements in cell purification and transplantation techniques have contributed to the identification of cell populations known as tumor-initiating cells (TIC). This discovery has led to the -cancer stem cell hierarchy- concept, which holds that tumors are organized as a hierarchy of malignant tissues sustained by such TIC. However, this concept remains controversial. In this review, we examine recent advances in cancer stem cell research that have been generated from studies of Philadelphia (Ph) chromosome-positive leukemia. The abnormal Ph chromosome, which arises from a translocation creating the BCR-ABL1 fusion gene, is most commonly associated with chronic myelogenous leukemia (CML) and precursor B cell acute lymphoblastic leukemia (B-ALL). Examination of the pathophysiology ...

2011-01-01

106

Mary Lyon and the hypothesis of random X chromosome inactivation

British Library Electronic Table of Contents (United Kingdom)

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...

2011-01-01

107

Isolation and mapping of a polymorphic DNA sequence (pEFD64. 2) on chromosome 3 (D3S46)

Introduction to the Special Issue: Human Linkage Studies for Behavioral Traits

A 4.0 kb TaqI fragment of cosmid EFD64 isolated by a HBV-3 oligonucleotide was subcloned into AccI site of pUC18. MspI identifies 5 allelic VNTR polymorphism with bands between 2.6 and 4.6 kb. RsaI, TaqI, EcoRI, BamHI, HindIII and PvuII identify the same VNTR polymorphism. With RsaI, 80% heterozygosity were observed in 80 unrelated Caucasians. This RFLP pEFD64.2 has been assigned to chromosome 3 by linkage analysis with loci (APOD) known to span this chromosome. Co-dominant segregation for the RsaI RFLP was observed in 40 three generation families. RFLPs were observed under the normal hybridization and washing condition.

1988-10-11

108

British Library Electronic Table of Contents (United Kingdom)

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...

2006-01-01

109

Genomic survey of prepulse inhibition in mouse chromosome substitution strains

British Library Electronic Table of Contents (United Kingdom)

Prepulse inhibition (PPI) is a measure of sensorimotor gating, a pre-attentional inhibitory brain mechanism that filters extraneous stimuli. Prepulse inhibition is correlated with measures of cognition and executive functioning, and is considered an endophenotype of schizophrenia and other psychiatric illnesses in which patients show PPI impairments. As a first step toward identifying genes that regulate PPI, we performed a quantitative trait locus (QTL) screen of PPI phenotypes in a panel of mouse chromosome substitution strains (CSSs). We identified five CSSs with altered PPI compared with the host C57BL/6J strain: CSS-4 exhibited decreased PPI, whereas CSS-10, -11, -16 and -Y exhibited higher PPI compared with C57BL/6J. These data indicate that A/J chromosomes 4, 10, 11, 16 and Y harbor...

2009-01-01

110

Cytogenetic polyclonality of breast carcinomas: Association with Clinico-Pathological Characteristics and Outcome

British Library Electronic Table of Contents (United Kingdom)

Abstract Routinely used prognostic factors fail to predict clinical outcome in a significant proportion of breast cancer patients, implying that they can not detect some important biological characteristics. Chromosomal changes have been described in breast carcinomas for many years but their significance is not clear. We compared chromosomal changes with clinico-pathological characteristics and clinical outcome in 203 breast cancer patients with a follow-up of 9-18 years. Combining data from classical cytogenetics and flow cytometry revealed chromosomal abnormalities in 142 cases (70%). Of these, 51 (35.9%) contained two or more cytogenetically abnormal clones. Polyclonality was significantly associated with poor breast-cancer-specific survival (P = 0.03) within 5 years, independent of tu...

2011-01-01

111

Crystal structure of the human centromeric nucleosome containing CENP-A

British Library Electronic Table of Contents (United Kingdom)

In eukaryotes, accurate chromosome segregation during mitosis and meiosis is coordinated by kinetochores, which are unique chromosomal sites for microtubule attachment. Centromeres specify the kinetochore formation sites on individual chromosomes, and are epigenetically marked by the assembly of nucleosomes containing the centromere-specific histone H3 variant, CENP-A. Although the underlying mechanism is unclear, centromere inheritance is probably dictated by the architecture of the centromeric nucleosome. Here we report the crystal structure of the human centromeric nucleosome containing CENP-A and its cognate ?-satellite DNA derivative (147 base pairs). In the human CENP-A nucleosome, the DNA is wrapped around the histone octamer, consisting of two each of histones H2A, H2B, H4 and CENP...

2011-01-01

112

Trypanosoma cruzi glycosomal glyceraldehyde-3-phosphate dehydrogenase does not conform to the 'hotspot' topogenic signal model.

The requirement of yeast replication origins for pre-replication complex proteins is modulated by transcription

The genes which encode glycosomal glyceraldehyde-phosphate dehydrogenase (gGAPDH) of Trypanosoma cruzi are arranged as a tandemly repeated pair on a single chromosome and are identical at the level...Full Text Available

1990-09-01

113

The polymorphism architecture of mouse genetic resources elucidated using genome-wide resequencing data: implications for QTL discovery and systems genetics

The mini-chromosome maintenance proteins Mcm2–7 are essential for DNA replication. They are loaded onto replication origins during G1 phase of the cell cycle to form a pre-replication complex...Full Text Available

2005-01-01

114

The chromosomal association/dissociation of the chromatin insulator protein Cp190 of Drosophila melanogaster is mediated by the BTB/POZ domain and two acidic regions

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

2007-07-01

115

The Friedreich Ataxia Critical Region Spans A 150-kb Interval on Chromosome 9q13

BackgroundChromatin insulators or boundary elements are a class of functional elements in the eukaryotic genome. They regulate gene transcription by interfering with promoter-enhancer...Full Text Available

116

Structural analysis of a hepatitis B virus genome integrated into chromosome 17p of a human hepatocellular carcinoma.

By analysis of crossovers in key recombinant families and by homozygosity analysis of inbred families, the Friedreich ataxia (FRDA) locus was localized in a 300-kb interval between the X104 gene and...Full Text Available

1995-11-01

117

Structural Basis for Acetylated Histone H4 Recognition by the Human BRD2 Bromodomain*

Hepatitis B virus (HBV) is clearly a factor in the development of hepatocellular carcinoma, but its mechanism of action remains obscure. One possibility is that the HBV integration event alters the...Full Text Available

1988-11-01

118

Statistical properties of nucleotide clusters in DNA sequences*

Recognition of acetylated chromatin by the bromodomains and extra-terminal domain (BET) family proteins is a hallmark for transcriptional activation and anchoring viral genomes to mitotic chromosomes...Full Text Available

2010-03-05

119

Sexual differentiation of the zebra finch song system: potential roles for sex chromosome genes

Using the complete genome of Plasmodium falciparum 3D7 which has 14 chromosomes as an example, we have examined the distribution functions for the amount of C or G and A or T consecutively...Full Text Available

2005-05-01

120

Secondary structure formation and DNA instability at fragile site FRA16B

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

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121

Role of the sar locus of Staphylococcus aureus in induction of endocarditis in rabbits.

Human chromosomal fragile sites are specific loci that are especially susceptible to DNA breakage following conditions of partial replication stress. They often are found in genes involved in tumorigenesis...Full Text Available

2010-05-01

122

ReplicationDomain: a visualization tool and comparative database for genome-wide replication timing data

A regulatory locus on the Staphylococcus aureus chromosome, designated sar, is involved in the expression of cell wall proteins, some of which are potentially important in the pathogenesis of endocarditis....Full Text Available

1994-05-01

123

Rearrangement of a common cellular DNA domain on chromosome 4 in human primary liver tumors.

BackgroundEukaryotic DNA replication is regulated at the level of large chromosomal domains (0.5–5 megabases in mammals) within which replicons are activated relatively synchronously....Full Text Available

124

Rearrangement of a common cellular DNA domain on chromosome 4 in human primary liver tumors

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

1988-02-01

125

Rearrangement of a common cellular DNA domain on chromosome 4 in human primary liver tumors

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 ...

1988-02-01

126

Pten Knockdown in vivo Increases Excitatory Drive onto Dentate Granule Cells

127

Presence of two independent chromosomes in the Brucella melitensis 16M genome.

Some cases of autism spectrum disorder (ASD) have mutations in the lipid phosphatase, Pten (phosphatase and tensin homolog on chromosome 10). Tissue...Full Text Available

2011-03-16

128

P-glycoprotein and breast cancer resistance protein in acute myeloid leukaemia cells treated with the Aurora-B Kinase Inhibitor barasertib-hQPA

Mapping the restriction fragments of the Brucella melitensis 16M genome with a new restriction endonuclease, PacI, which cut the DNA into only eight fragments, indicated that this species contains two...Full Text Available

1993-02-01

129

Multiple Genes on Chromosome 7 Regulate Dopaminergic Amacrine Cell Number in the Mouse Retina

BackgroundAurora kinases play an essential role in orchestrating chromosome alignment, segregation and cytokinesis during mitotic progression, with both aurora-A and B frequently...Full Text Available

130

Molecular cloning, genomic organization, and chromosomal localization of the human pancreatitis-associated protein (PAP) gene

PurposeThe size of neuronal populations is modulated by gene variants that influence cell production and survival, in turn influencing neuronal connectivity, function,...Full Text Available

2009-05-01

131

Levels and Patterns of Nucleotide Variation in Domestication QTL Regions on Rice Chromosome 3 Suggest Lineage-Specific Selection

Pancreatitis-associated protein (PAP) is a secretory pancreatic protein present in small amounts in normal pancreas and overexpressed during the acute phase of pancreatitis. In this paper, the authors describe the cloning, characterization, and chromosomal mapping of the human PAP gene. The gene spans 2748 bp and contains six exons interrupted by five introns. The gene has a typical promoter containing the sequences TATAAA and CCAAT 28 and 52 bp upstream of the cap site, respectively. They found striking similarities in genomic organization as well as in the promoter sequences between the human and rat PAP genes. The human PAP gene was mapped to chromosome 2p12 using rodent-human hybrid cells and in situ chromosomal hybridization. This localization coincides with that of the reg/lithostathine gene, which encodes a pancreatic secretory protein structurally related to PAP, suggesting that both genes derived from the same ...

1994-01-01

132

Insights into Cdc13 dependent telomere length regulation

Oryza sativa or Asian cultivated rice is one of the major cereal grass species domesticated for human food use during the Neolithic. Domestication of this species from the wild grass...Full Text Available

133

Impaired replication dynamics at the FRA3B common fragile site

Cdc13 is a single stranded telomere binding protein that specifically localizes to the telomere ends of budding yeasts and is essential for cell viability. It caps the ends of chromosomes thus preventing...Full Text Available

134

Identification of plasmid and Bacillus subtilis chromosomal recombination sites used for pE194 integration.

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

2010-01-01

135

Identification of PITX1 as a TERT Suppressor Gene Located on Human Chromosome 5 ^?

The plasmid pE194 (3.7 kilobases) is capable of integrating into the genome of the bacterial host Bacillus subtilis in the absence of the major homology-dependent RecE recombination system. Multiple...Full Text Available

1989-05-01

136

Genome Sequence and Comparative Analysis of the Solvent-Producing Bacterium Clostridium acetobutylicum

Telomerase, a ribonucleoprotein enzyme that maintains telomere length, is crucial for cellular immortalization and cancer progression. Telomerase activity is attributed primarily to the expression of...Full Text Available

2011-04-01

137

Genetic analysis of the psychostimulant effects of nicotine in chromosome substitution strains and F2 crosses derived from A/J and C57BL/6J progenitors

The genome sequence of the solvent-producing bacterium Clostridium acetobutylicum ATCC 824 has been determined by the shotgun approach. The genome consists of a 3.94-Mb chromosome and...Full Text Available

2001-08-01

138

British Library Electronic Table of Contents (United Kingdom)

Previous research utilizing the AcB/BcA recombinant congenic strains (RCS) of mice mapped provisional quantitative trait loci (QTLs) for the psychostimulant effects of nicotine to multiple regions on chromosomes 7, 11, 12, 14, 16, and 17. The current study was designed to confirm these QTLs in an A/J (A)??C57Bl/6J (B6) F2 cross and a panel of B6.A chromosome substitution strains (CSS). The panel of B6.A CSS consists of 21 strains, each carrying a different A/J chromosome on a B6 background. The A??B6 F2, CSS, A, and B6 mice were tested for sensitivity to the effects of nicotine on locomotor activity using a computerized open-field apparatus. In A??B6 F2 mice two QTLs were identified which confirm those previously observed in the AcB/BcA RCS. Significant differences in the expression of ...

2009-01-01

139

General lack of global dosage compensation in ZZ/ZW systems? Broadening the perspective with RNA-seq

Frequency of Aneuploidy Related to Age in Porcine Oocytes

BackgroundSpecies with heteromorphic sex chromosomes face the challenge of large-scale imbalance in gene dose. Microarray-based studies in several independent male heterogametic...Full Text Available

140

Evidence for increased in vitro recombination with insertion of human hepatitis B virus DNA.

It is generally accepted that mammalian oocytes are frequently suffering from chromosome segregation errors during meiosis I, which have severe consequences, including pregnancy loss, developmental...Full Text Available

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141

Escherichia coli MW005: lambda Red-mediated recombineering and copy-number induction of oriV-equipped constructs in a single host

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

1991-10-15

142

Escherichia coli DnaA Forms Helical Structures Along the Longitudinal Cell Axis Distinct From MreB Filaments

BackgroundEscherichia coli strain EL350 contains chromosomally integrated phage lambda Red recombinase genes enabling this strain to be used for modifying the sequence...Full Text Available

143

Effect of Leucovorin (Folinic Acid) on the Developmental Quotient of Children with Down's Syndrome (Trisomy 21) and Influence of Thyroid Status

SummaryDnaA initiates chromosomal replication in E. coli at a well regulated time in the cell-cycle. To determine how the spatial distribution of DnaA is related...Full Text Available

2009-05-01

144

Dynamic SpoIIIE assembly mediates septal membrane fission during Bacillus subtilis sporulation

BackgroundSeven genes involved in folate metabolism are located on chromosome 21. Previous studies have shown that folate deficiency may contribute to mental retardation in Down's...Full Text Available

145

Diet-induced changes in uncoupling proteins in obesity-prone and obesity-resistant strains of mice

SpoIIIE is an FtsK-related protein that transports the forespore chromosome across the Bacillus subtilis sporulation septum. We use membrane photobleaching and protoplast assays to...Full Text Available

2010-06-01

146

Comprehensive molecular cytogenetic analysis of sorghum genome architecture: distribution of euchromatin, ...

Uncoupling protein 2 (UCP2) maps to a region on distal mouse chromosome 7 that has been linked to the phenotypes of obesity and type II diabetes. We recently reported that UCP2 expression is increased...Full Text Available

1998-03-31

147

Completely phased genome sequencing through chromosome sorting

Cyteogenetic maps of sorghum chromosomes 3-7, 9, and 10 were constructed on the basis of the fluorescence in situ hybridization (FISH) of ~ ... regions of heterchromatin were delimited for all 10 sorghum chrom...

148

Common Familial Colorectal Cancer Linked to Chromosome 7q31: a genome-wide analysis

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

2011-01-04

149

Cloning and sequencing of cDNA encoding human DNA topoisomerase II and localization of the gene to chromosome region 17q21-22

Present investigations suggest that approximately 30% of colorectal cancer (CRC) cases arise on the basis of inherited factors. We hypothesize that the majority of inherited factors are moderately...Full Text Available

2008-11-01

150

Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA)[sub n] repeats on human chromosome 21

Two overlapping cDNA clones encoding human DNA topoisomerase II were identified by two independent methods. In one, a human cDNA library in phage {lambda} was screened by hybridization with a mixed oligonucleotide probe encoding a stretch of seven amino acids found in yeast and Drosophila DNA topoisomerase II; in the other, a different human cDNA library in a {lambda}gt11 expression vector was screened for the expression of antigenic determinants that are recognized by rabbit antibodies specific to human DNA topoisomerase II. The entire coding sequences of the human DNA topoisomerase II gene were determined from these and several additional clones, identified through the use of the cloned human TOP2 gene sequences as probes. Hybridization between the cloned sequences and mRNA and genomic DNA indicates that the human enzyme is encoded by a single-copy gene. The location of the gene was mapped to chromosome 17q21-22 by in situ hybridization of a cloned fragment to ...

1988-10-01

151

Cloning and Nucleotide Sequence Determination of the Entire mec DNA of Pre-Methicillin-Resistant Staphylococcus aureus N315

The authors report the cloning, sequencing, and mapping of three short sequence repeat polymorphisms due to tetranucleotide (TAAA) repeats from human chromosome 21. These DNA markers (D21S221, D21S225, D21S226) have been cloned from the chromosome 21-specific plasmid library of J. C. Fuscoe, C. C. Collins, D. Pinkel, and J. W. Gray and were shown to be polymorphic by polymerase chain reaction amplification and polyacrylamide gel electrophoresis. Genotypes were determined in informative CEPH pedigrees and used in linkage analysis relative to other mapped markers on human chromosome 21. One of these markers, D21S221, is closely linked to the amyloid precursor protein gene (APP), which has been implicated in the etiology of familial Alzheimer disease in some families. 18 refs., 3 figs., 2 tabs.

1992-12-01

152

Chromosome mapping of human CDC25A and CDC25B phosphatases

In methicillin-resistant Staphylococcus aureus, the methicillin resistance gene mecA is localized within a large chromosomal region which is absent in the methicillin-susceptible...Full Text Available

1999-06-01

153

Chromosome X modulates incidence of testicular germ cell tumors in Ter mice

The human CDC25 tyrosine phosphatases trigger activation of CDC2 by removing inhibitory phosphates; thus the genes encoding these phosphatases may be suspected as potential oncogenes due to their role in promoting cell division. To date, three human CDC25 genes have been identified: CDC25A, B, and C. This communication describes the mapping of CDC25A to chromosome 3p21 and CDC25B to chromosome 20p13 by fluorescence in situ hybridization with confirmation by the polymerase chain reaction of hamster-human somatic cell hybrid DNA. 3p21 is near an area frequently involved in karyotypic abnormalities in renal carcinomas, small cell carcinomas of the lung, and benign tumors of the salivary gland. 20p13 does not seem to be a common area for karyotypic alteration in tumors. Mapping of these genes to their chromosomal loci may help identify tumors with abnormal regulation of CDC25 genes due to genomic alterations. 15 refs., 3 figs.

1993-10-01

154

Characterization of the H(+)-pumping F1F0 ATPase of Vibrio alginolyticus.

Germ cell tumor development in humans has been proposed to be part of testicular dysgenesis syndrome (TDS), which manifests as undescended testes, sterility, hypospadias, and, in extreme cases,...Full Text Available

2007-12-01

155

Arabidopsis thaliana Chromosome 4 Replicates in Two Phases That Correlate with Chromatin State

The F1F0 ATPase of Vibrio alginolyticus was cloned from a chromosomal lambda library. The unc operon, which contains the structural genes for the ATPase, was sequenced and shown to have a gene organization...Full Text Available

1990-12-01

156

Analysis of the bmp Gene Family in Borrelia burgdorferi Sensu Lato

DNA replication programs have been studied extensively in yeast and animal systems, where they have been shown to correlate with gene expression and certain epigenetic modifications. Despite the conservation...Full Text Available

2010-06-01

157

Actin-like sequences are present on human X and Y chromosomes.

BmpA, BmpB, BmpC, and BmpD are homologous Borrelia burgdorferi lipoproteins of unknown functions, encoded by the bmp genes of paralogous chromosomal gene family 36....Full Text Available

2000-04-01

158

A verification of previously identified QTLs for cocaine-induced activation using a panel of B6.A chromosome substitution strains (CSS) and A/J x C57Bl/6J F2 mice

The human genome contains greater than 20 actin-related sequences, six of which at least are expressed as protein. We have shown by blot hybridization the presence of actin-like sequences on both the...Full Text Available

1984-08-01

159

British Library Electronic Table of Contents (United Kingdom)

Background The objective of this study was to confirm provisional quantitative trait loci (QTL) for cocaine-induced locomotor activation, on chromosomes 1, 5, 6, 9, 12, 15, 16, 17, and 18, previously identified in the AXB/BXA recombinant inbred (RI) and AcB/BcA recombinant congenic (RC) strains of mice derived from A/J (A) and C57BL/6J (B6) progenitors. This was accomplished through a genetic analysis of cocaine-induced activity in an AxB6 F2 cross and a phenotypic survey across a panel of B6.A chromosome substitution strains (CSS) mice. Mice were tested for cocaine-induced activity, following administration of saline and cocaine (20?mg/kg), utilizing an open-field procedure. Results Among AxB6 F2 mice, differences in cocaine-induced activity were associated with loci on chromosome 1 (D1Mi...

2009-01-01

160

A Marker-Dense Physical Map of the Bradyrhizobium japonicum Genome

Updates on Attention-Deficit/Hyperactivity Disorder and Learning Disorders

Bacterial artificial chromosome (BAC) clones are effective mapping and sequencing reagents for use with a wide variety of small and large genomes. This report describes the development of a physical...Full Text Available

2001-08-01

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161

British Library Electronic Table of Contents (United Kingdom)

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...

2011-01-01

162

The use of Radioactive labeling in hemoglobin identification

The early days of parathyroid surgery.

The basic approach to radioactive labeling techniques in hemoglobin identification consists of mixing 14C labeled normal carrier globin with 3H labeled unknown globin and carrying out the subsequent separations and purifications looking at the distribution of 3H and 14C radioactivity. This technique was devised to ascertain the amino acid substitution in Hb Indianapolis and was instrumental in solving the structure of Hb Vicksburg. It was also useful in determining the purity of gamma-chains from cultures of human and baboon erythroid progenitors. Another use of this technique would be in identifying aberrant peaks of radioactivity in chain separation chromatograms, such as ''pre-peaks''.

163

Laser ray-tracing method for optical testing.

The parathyroid endocrine glands, usually four in number and about the size of a split pea, lie on either side of the posterior aspect of the thyroid gland. Occasionally one or more of these structures are found in an aberrant position in the neck or even in the superior mediastinum. The parathyroid secretion, parathormone, regulates the level of serum calcium within sharply defined limits. Lack of parathormone, with lowering of the serum calcium, results in hyper-irritability of skeletal muscle, the clinical condition known as tetany. This is encountered following inadvertent removal or bruising of the parathyroid glands at thyroidectomy. PMID:21488463

2011-03-01

164

A numerical study of expected accuracy and precision in Calibration-Free Laser-Induced Breakdown Spectroscopy in the assumption of ideal analytical plasma

We have developed a novel laser ray-tracing method to measure aberrations in optical systems. It consists of delivering narrow laser pencils (by a laser scanner), recording the spots that are formed on the image plane (with a CCD camera), and computing the position of each centroid. This approach could be considered an experimental (approximate) implementation of standard numerical ray tracing. Several tests and experiments, including a direct comparison with a Hartmann-Shack wave-front sensor, provided highly satisfactory results that confirmed the validity of the method and revealed potential advantages. PMID:18073906

1999-07-15

165

A numerical study of expected accuracy and precision in Calibration-Free Laser-Induced Breakdown Spectroscopy in the assumption of ideal analytical plasma

Calibration-Free Laser-Induced Breakdown Spectroscopy (CF-LIBS) has been proposed several years ago as an approach for quantitative analysis of Laser-Induced Breakdown Spectroscopy spectra. Recently developed refinement of the spectral processing method is described in the present work. Accurate quantitative results have been demonstrated for several metallic alloys. However, the degree of accuracy that can be achieved with Calibration-Free Laser-Induced Breakdown Spectroscopy analysis of generic samples still needs to be thoroughly investigated. The authors have undertaken a systematic study of errors and biasing factors affecting the calculation in the Calibration-Free Laser-Induced Breakdown Spectroscopy spectra processing. These factors may be classified in three main groups: 1) experimental aberrations (intensity fluctuations and inaccuracy in the correction for spectral efficiency of a detection system), 2) inaccuracy in theoretical parameters used for ...

2007-12-15

166

Assessment of chromosomal abnormalities in sperm of infertile men using sperm karyotyping and multicolour fluorescence in situ hybridization (FISH)

2007-12-01

167

A radiation hybrid map of the BRCA1 region of chromosome 17q12-q21

Individuals with male factor infertility resulting from idiopathic oligo-, astheno- or teratozoospermia are frequently offered IVF in an attempt to increase their chances of having a child. A concern remains whether these infertile males have an elevated risk of transmitting chromosomal abnormalities to their offspring. Sperm chromosomal complements from these men were assayed using the human sperm/hamster oocyte fusion system and fluorescence in situ hybridization (FISH) on sperm nuclei. For each of 5 infertile patients, 100 sperm karyotypes were analyzed and multicolour FISH analysis was performed on a minimum of 10,000 sperm nuclei for each chromosome-specific DNA probe for chromosomes 1 (pUC1.77), 12 (D12Z3), X (XC) and Y (DYZ3). As a group, the infertile patients showed increased frequencies of both numerical ({chi}{sup 2}=17.26, {proportional_to} <0.001) and total abnormalities ({chi}{sup ...

1994-09-01

168

Yeast artificial chromosome libraries containing large inserts from mouse and human DNA

The chromosomal region 17q12-q21 contains a gene (BRCA1) conferring susceptibility to early-onset familial breast and ovarian cancer. An 8000-rad radiation-reduced hybrid (RH) panel was constructed to provide a resource for long-range mapping of this region. A large fraction of the hybrids ([approximately]90%) retained detectable human chromosome 17 sequences. The complete panel of 76 hybrids was scored for the presence or absence of 22 markers from this chromosomal region, including 14 cloned genes, seven microsatellite repeats, and one anonymous DNA segment. Statistical analysis of the marker retention data employing multipoint methods provided both comprehensive and framework maps of this chromosomal region, including distance estimates between adjacent markers. The comprehensive RH map includes 17 loci and spans 179 cRays[sub (8000)]. Likelihood ratios of at least 1000:1 support the 10-locus ...

1993-09-01

169

Variations in ventral root axon morphology and locomotor behavior components across different inbred strains of mice

Yeast artificial chromosome (YAC) libraries have been difficult to construct with average insert sizes >400 kilobase pairs when DNA is size-fractionated in low-melting-point agarose. By using yeast chromosomes in mock cloning experiments, the authors found that polyamines should be present whenever agarose containing high molecular weight DNA is melted to protect DNA from degradation. By incorporating polyamines during the cloning procedure, they constructed YAC libraries from mouse and human DNA with average insert sizes of 700 and 620 kilobase pairs, respectively. Several genome equivalents of these YAC libraries were replicated onto the surface of many duplicate agar plates using a 40,000 multipin transfer device. High-density filter replicas were screened by hybridization, and 70 mouse YAC clones from 31 loci and 132 human YAC clones from 49 loci were isolated.

1991-05-15

170

British Library Electronic Table of Contents (United Kingdom)

Locomotion is a complex behavior affected by many different brain- and spinal cord systems, as well as by variations in the peripheral nervous system. Recently, we found increased gene expression for EphA4, a gene intricately involved in motor neuron development, between high-active parental strain C57BL/6J and the low-active chromosome substitution strain 1 (CSS1). CSS1 mice carry chromosome 1 from A/J mice in a C57BL/6J genetic background, allowing localization of quantitative trait loci (QTL) on chromosome 1. To find out whether differences in motor neuron anatomy, possibly related to the changes in EphA4 expression, are involved in the motor activity differences observed in these strains, motor performance in various behavioral paradigms and anatomical differences in the ventral roots ...

2009-01-01

171

Molecular cloning of the human homeobox gene goosecoid (GSC) and mapping of the gene to human chromosome 14q32. 1

Mapping of the gene encoding the melanocortin-1 ([alpha]-melanocyte stimulating hormone) receptor (MC1R) to human chromosome 16q24. 3 by fluorescence in situ hybridization

Goosecoid is a homeobox gene first isolated from a Xenopus dorsal lip cDNA library. Homologous genes have been isolated from mouse, zebrafish, and chick. In all species examined, the gene is expressed and plays an important role during the process of gastrulation in early embryonic development. The authors report here the cloning of the human goosecoid (GSC) from a genomic library and the sequence of its encoded protein. The genomic organization and protein sequence of the human gene are highly conserved with respect to those of its Xenopus and mouse counterparts: all three genes consist of three exons, with conserved exon-intron boundaries. The sequence of the homeo-domain is 100% conserved in most vertebrates. Using somatic cell hybrid and chromosomal in situ hybridization, the gene was mapped to chromosome 14q32.1. 30 refs., 3 figs., 2 tabs.

1994-05-15

172

Isolation of fetal DNA from nucleated erythrocytes in maternal blood

[alpha]-Melanocyte stimulating hormone ([alpha]-MSH), a hormone originally named for its ability to regulate pigmentation of melanocytes, is a 13-amino-acid post-translational product of the pro-opiomelanocortin (POMC) gene. [alpha]-MSH and the other products of POMC processing, which share the core heptapeptide amino acid sequence Met-Glu (Gly)-His-Phe-Arg-Trp-Gly (Asp), the adrenocorticotropic hormone (ACTH), [beta]-MSH, and [gamma]-MSH, are collectively referred to as melanocortins. While best known for their effects on the melanocyte (pigmentation) and adrenal cortical cells (steroidogenesis), melanocortins have been postulated to function in diverse activities, including enhancement of learning and memory, control of the cardiovascular system, analgesia, thermoregulation, immunomodulation, parturition, and neurotrophism. To identify the chromosomal band encoding the human melanocortin-1 receptor gene, 1 [mu]g of an EMBL clone coding region of the human MC1R ...

1994-01-15

173

Homology among tet determinants in conjugative elements of streptococci

Fetal nucleated cells within maternal blood represent a potential source of fetal genes obtainable by venipuncture. The authors used monoclonal antibody against the transferrin receptor (TIR) to identify nucleated erythrocytes in the peripheral blood of pregnant women. Candidate fetal cells from 19 pregnancies were isolated by flow sorting at 12 1/2-17 weeks gestation. The DNA in these cells was amplified for a 222-base-pair (bp) sequence present on the short arm of the Y chromosome as proof that the cells were derived from the fetus. The amplified DNA was compared with standardized DNA concentrations. In the case of the female fetus, DNA prepared from samples at 32 weeks of gestation and cord blood at delivery also showed the presence of the Y chromosomal sequence, suggesting Y sequence mosaicism or translocation. In 10/12 cases where the 222-bp band was absent, the fetuses were female. Thus, they were successful in detecting the Y ...

1990-05-01

174

Hemoglobin of mice with radiation-induced mutations at the hemoglobin loci

A mutation to tetracycline sensitivity in a resistant strain of Streptococcus pneumoniae was shown by several criteria to be due to a point mutation in the conjugative o(cat-tet) element found in the chromosomes of strains derived from BM6001, a clinical strain resistant to tetracycline and chloramphenicol. Strains carrying the mutation were transformed back to tetracycline resistance with the high efficiency of a point marker by donor deoxyribonucleic acids from its ancestral strain and from nine other clinical isolates of pneumococcus and by deoxyribonucleic acids from Group D Streptococcus faecalis and Group B Streptococcus agalactiae strains that also carry conjugative tet elements in their chromosomes. It was not transformed to resistance by tet plasmid deoxyribonucleic acids from either gram-negative or gram-positive species, except for one that carried transposon TN916, the conjugative tet element present in the ...

1981-10-01

175

Characterization of mal recombination plasmids cloned in Streptococcus pneumoniae

Chemical analyses were done on the abnormal hemoglobins of the five (101 x SEC)F_1 offspring of X- irradiated adult SEC mice to determine which hemoglobin genes were expressed in each hemoglobin variant. Three offspring of irradiated SEC males did not express either of the two kinds of #alpha#-chains normally found in all SEC mice. The deficient #alpha#-chain synthesis caused these mice to exhibit an #alpha#-thalassemia similar to human #alpha#-thalassemia. Scanning electron microscopy was used to show that many erythrocytes of mice with #alpha#-thalassemia have bizarre shapes; e.g. many erythrocytes appeared flattened or had thorny projections (acanthocytes). One mutant with a tandem duplication of a segment of chromosome 7 (site of locus determining #beta#-chain structure) produced twice as much SEC as 101 #beta#-chain polypeptides. One mutant that probably arose by non-disjunction of chromosome 7's in its unirradiated 101 mother and loss of ...

176

A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p

The malM locus of Streptococcus pneumoniae was cloned into one of the two PstI sites of the multicopy S. pneumoniae plasmid pMV158. To eliminate chromosomal transformants in the simultaneous selection for tetracycline resistance (coded by pMV158) and maltose utilization, the host cells contained a chromosomal deletion of the mal gene cluster. Two clones were isolated; one with a 3.3 kb insert (pLS70) which behaved like wild type with respect to maltose utilization, and another with a 2.9 kb insert (pLS69) which behaved as though it contained a down promoter mutation. Preliminary mapping of these clones by restriction analysis placed the 0.4kb deletion on a HindIII fragment in the interior of the chromosomal insert. The recombinant plasmids were able to transform over 50% of a recipient population to Mal/sup +/. Enzyme measurements of the clones indicated an overproduction of amylomaltase, constituting up to 10% of the total ...

1981-01-01

177

The morphology and systematics of Mammalodon colliveri (Cetacea: Mysticeti), a toothed mysticete from the Oligocene of Australia

Stargardt disease (STGD) and fundus flavimaculatus are infrequent autosomal recessive conditions characterized by a juvenile macular dystrophy and variable degrees of peripheral retinal changes. Linkage analysis performed in 47 STGD/fundus flavimaculatus families demonstrated significant linkage to 13 polymorphic DNA markers on chromosome 1p. The maximum combined two-point lod score was 32.7 (maximum recombination fraction [{theta}{sub max}] = .006) with the polymorphic marker D1S188. Our data demonstrate that STGD and fundus flavimaculatus are the same disorder clinically and genetically and provide further evidence for genetic homogeneity of this phenotype. Analysis of recombination on disease chromosomes placed the STGD gene within a 4-cM interval between markers D1S435 and D1S236. A physical map was constructed of a YAC contig flanking STGD, from markers D1S500 to D1S495, and includes the critical interval delineated by historical ...

1995-12-01

178

British Library Electronic Table of Contents (United Kingdom)

Mammalodon colliveri is an unusual toothed archaic mysticete (Cetacea) from the Upper Oligocene Jan Juc Formation of south-east Australia. The morphology of the holotype skull and postcrania are described in detail. Superimposed on the generally plesiomorphic archaeocete-like morphology of Mammalodon are subtle mysticete synapomorphies. Derived features of Mammalodon include a short and bluntly rounded rostrum, reduced premaxillae, and anterodorsally directed orbits. Within Mysticeti, this suite of features is unique. The aberrant rostral morphology of Mammalodon suggests specialization for suction feeding. Janjucetus hunderi is placed in an expanded family Mammalodontidae. Phylogenetic analysis corroborates the monophyly of Basilosauridae, Neoceti, Odontoceti, and Mysticeti, and yields a ...

2010-01-01

179

Spectrograph for free-electron laser experiments

Research update: Alpha7 nicotinic acetylcholine receptor mechanisms in Alzheimer's disease

The design and construction of a Browne-Buechner type round pole face magnetic electron spectrograph is described. The design is based on the first order transfer properties of the bending magnet including the focal surface, dispersion, magnification and resolution. Second order aberrations are compared wit numerical ray tracing results using measured field data to simulate the magnet. The numerical results are also compared with floating wire measurements on the system. Agreement is within one part in 10"4. Data extraction from the instrument is done with an array of copper detectors placed along the focal surface. The spectrograph has been successfully employed in free-electron laser (FEL) experiments for over a year.

1983-03-21

180

British Library Electronic Table of Contents (United Kingdom)

Aberrant amyloid-b peptide (Ab) accumulation along with altered expression and function of nicotinic acetylcholine receptors (nAChRs) stand prominently in the etiology of Alzheimer's disease (AD). Since the discovery that Ab is bound to a7 nAChRs under many experimental settings, including post-mortem AD brain, much effort has been expended to understand the implications of this interaction in the disease milieu. This research update will review the current literature on the a7 nAChR-Ab interaction in vitro and in vivo, the functional consequences of this interaction from sub-cellular to cognitive levels, and discuss the implications these relationships might have for AD therapies.

2011-01-01

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181

Reactions of the inner surface of carbon nanotubes and nanoprotrusion processes imaged at the atomic scale

British Library Electronic Table of Contents (United Kingdom)

Although the outer surface of single-walled carbon nanotubes (atomically thin cylinders of carbon) can be involved in a wide range of chemical reactions, it is generally thought that the interior surface of nanotubes is unreactive. In this study, we show that in the presence of catalytically active atoms of rhenium inserted into nanotubes, the nanotube sidewall can be engaged in chemical reactions from the inside. Aberration-corrected high-resolution transmission electron microscopy operated at 80?keV allows visualization of the formation of nanometre-sized hollow protrusions on the nanotube sidewall at the atomic level in real time at ambient temperature. Our direct observations and theoretical modelling demonstrate that the nanoprotrusions are formed in three stages: (i) metal-assisted d...

2011-01-01

182

Hypomethylation and induction of retinoic acid receptor beta 2 by concurrent action of adenosine analogues and natural compounds in breast cancer cells

British Library Electronic Table of Contents (United Kingdom)

DNA methylation is considered as a potential cause of aberrations in regulation of gene expression during carcinogenesis. Therefore, changes in DNA methylation patterns may be targets for chemoprevention. In the present study, we investigated effects of all-trans retinoic acid (ATRA), vitamin D3, and resveratrol alone and in combination with adenosine analogues: 2-chloro-2'-deoxyadenosine (2CdA) and 9-beta-d-arabinosyl-2-fluoroadenine (F-ara-A), on methylation and expression of retinoic acid receptor beta 2 (RARbeta2) in MCF-7 and MDA-MB-231 breast cancer cell lines. Alterations in methylation and expression levels after treatment of cells with the tested compounds were evaluated by methylation-sensitive restriction analysis (MSRA) and real-time PCR, respectively. RARbeta2 promoter in the ...

2010-01-01

183

Nucleomorph Ribosomal DNA and Telomere Dynamics in Chlorarachniophyte Algae

British Library Electronic Table of Contents (United Kingdom)

ABSTRACT. Chlorarachniophytes are enigmatic marine unicellular algae that acquired photosynthesis by secondary endosymbiosis. Chlorarachniophytes are unusual in that the nucleus of the engulfed algal cell (a green alga) persists in a miniaturized form, termed a nucleomorph. The nucleomorph genome of the model chlorarachniophyte, Bigelowiella natans CCMP621, is 373 kilobase pairs (kbp) in size, the smallest nuclear genome characterized to date. The B. natans nucleomorph genome is composed of three chromosomes, each with canonical eukaryotic telomeres and sub telomeric ribosomal DNA (rDNA) operons transcribed away from the chromosome end. Here we present the complete rDNA operon and telomeric region from the nucleomorph genome of Lotharella oceanica CCMP622, a newly characterized chlorarachn...

2010-01-01

184

Mapping of the human cone transducin {alpha}-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease

Interspecies Trait Genetics Reveals Association of Adcy8 with Mouse Avoidance Behavior and a Human Mood Disorder

We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease. 19 refs., 1 fig., 1 tab.

1995-01-01

185

British Library Electronic Table of Contents (United Kingdom)

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...

2009-01-01

186

Identification and characterization of retinoid-active short-chain dehydrogenases/reductases in Drosophila melanogaster

British Library Electronic Table of Contents (United Kingdom)

Background In chordates, retinoid metabolism is an important target of short-chain dehydrogenases/reductases (SDRs). It is not known whether SDRs play a role in retinoid metabolism of protostomes, such as Drosophila melanogaster. Methods Drosophila genome was searched for genes encoding proteins with ?50% identity to human retinol dehydrogenase 12 (RDH12). The corresponding proteins were expressed in Sf9 cells and biochemically characterized. Their phylogenetic relationships were analyzed using PHYLIP software. Results A total of six Drosophila SDR genes were identified. Five of these genes are clustered on chromosome 2 and one is located on chromosome X. The deduced proteins are 300 to 406 amino acids long and are associated with microsomal membranes. They recognize all-trans-retinaldehyd...

2009-01-01

187

Human cytotrophoblasts acquire aneuploidies as they differentiateto an invasive phenotype

Genetic factors for resistance to diet-induced obesity and associated metabolic traits on mouse chromosome 17

Through an unusual differentiation process, human trophoblast progenitors (cytotrophoblasts) give rise to tumor-like cells that invade the uterus. By an unknown mechanism, invasive cytotrophoblasts exhibit permanent cell cycle withdrawal. Here we report molecular cytogenetic data showing that {approx} 20 to 60 percent of these interphase cells had acquired aneusomies involving chromosomes X, Y, o r16. The incidence positively correlated with gestational age and differentiation to an invasive phenotype. Scoring 12 chromosomes in flow-sorted cytotrophoblasts showed that more than 95 percent of the cells were hyperdiploid. Thus, aneuploidy appears to be an important component of normal placentation, perhaps limiting the proliferative and invasive potential of cytotrophoblasts within the uterus.

2004-12-15

188

British Library Electronic Table of Contents (United Kingdom)

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...

2009-01-01

189

Fusion of protoplasts with irradiated micro protoplasts as a tool for radiation hybrid panel in citrus;Fusao de protoplastos com microprotoplastos irradiados como ferramenta para painel hibrido de radiacao em citros

Evaluation of a commercial MRSA assay when multiple MRSA strains are causing epidemics

The objective of this work was to combine asymmetric somatic hybridization (donor-recipient fusion or gamma fusion) to microprotoplast-mediated chromosome transfer, as a tool to be used for chromosome mapping in Citrus. Swinglea glutinosa micro protoplasts were irradiated either with 50, 70, 100 or 200 gamma rays and fused to cv. Ruby Red grapefruit or Murcott tangor protoplasts. Cell colonies were successfully formed and AFLP analyses confirmed presence of S. glutinosa in both 'Murcott' tangor and 'Ruby Red' grapefruit genomes. (author)

2009-12-15

190

British Library Electronic Table of Contents (United Kingdom)

Rapid and reliable diagnostic methods are needed to control methicillin-resistant Staphylococcus aureus (MRSA) transmission. We studied the BD GeneOhm? MRSA Assay which is based on one specific amplification product at the junction of the right extremity sequence of the staphylococcal cassette chromosome mec (SCCmec) and the chromosomal sequence of orfX of S. aureus. The test was applied on 95 clinical isolates in Finland: 83% were positive. The isolates giving negative results represented several pulsed-field gel electrophoresis (PFGE) types and harboured SCCmec types IV, V, VI or were new types with different combinations of ccr genes.

2009-01-01

191

DNase-resistant transfer of chromosomal cat and tet insertions by filter mating in pneumococcus

Chromosomal rearrangement segregating with adrenoleukodystrophy: A molecular analysis

Genes for chloramphenicol resistance, Cm(r) and tetracycline resistance, Tc(r), which are present as heterologous insertions in the chromosomes of some clinical isolates of Streptococcus pneumoniae (pneumococcus) and derivative strains, were transferred at a low frequency to other pneumococci by a DNase-resistant filter mating process that resembles conjugation. Cotransfer of Cm(r) and Tc(r) was the most common event. Neither the donor strains nor the transconjugants contained detectable plasmids. Transconjugants acted as donors for transformation and for filter mating and had properties similar to those of the parent strain. The presence of the conjugative plasmid pIP501 in the donor did not appear to influence the transfer properties of the Cm(r) or Tc(r) determinants.

1980-01-01

192

DoseWatchers - A computer based X ray dose monitoring project in paediatric radiology

The relationship between X chromosome-linked adrenoleukodystrophy and the red/green color pigment gene cluster on Xq28 was investigated in a large kindred. The DNA in a hemizygous male showed altered restriction fragment sizes compatible with at least a deletion extending from the 5[prime] end of the color pigment genes. Segregation analysis using a DNA probe within the color pigment gene cluster showed significant linkage with adrenoleukodystrophy (logarithm of odds score of 3.19 at [theta] = 0.0). These data demonstrate linkage, rather than association, between a unique molecular rearrangement in the color pigment gene cluster and adrenoleukodystrophy. The DNA changes in this region are thus likely to be helpful for determining the location and identity of the responsible gene. 33 refs., 4 figs.

1993-10-15

193

PROGRESS IN BEAM FOCUSING AND COMPRESSION FOR WARM-DENSE MATTER EXPERIMENTS

Full text: Introduction. Children, especially premature infants and neonates, are at a much higher risk to obtain an X ray induced disturbance of life - particularly cancer. On the one hand this is due to their longer life expectancy and on the other hand it is due to their higher cell proliferation rate. The paediatric radiology unit of the Inselspital Bern recently installed some of the most advanced X ray equipment nowadays available. It is based on the two latest digital technologies: double read computed radiography (CR) and direct digital radiography (DR). Only the implementation of these digital radiography systems permits the digital acquisition and additionally the analysis of acquired data. The systematic analysis of large amounts of biometric data and exposition data is the basis for further dose reduction and a systematic quality control (QC). Patients are increasingly critical concerning radiation exposure - ...

2006-11-13

194

Gel-based proteomics of liver cancer progression in rat.

The Heavy-Ion Fusion Sciences Virtual National Laboratory is pursuing an approach to target heating experiments in the Warm Dense Matter regime, using spacecharge-dominated ion beams that are simultaneously longitudinally bunched and transversely focused. Longitudinal beam compression by large factors has beendemonstrated in the Neutralized Drift Compression Experiment (NDCX) with controlledramps and forced neutralization. Using an injected 30-mA K+ ion beam with initialkinetic energy 0.3 MeV, axial compression leading to ~;;50-fold current amplification andsimultaneous radial focusing to beam radii of a few mm have led to encouraging energy deposition approaching the intensities required for eV-range target heating experiments. We discuss the status of several improvements to our Neutralized Drift Compression Experiment and associated beam diagnostics that are under development to reach the necessary higher beam intensities, including: (1) greater axial compression via a longer ...

2008-09-25

195

Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis.

A significant challenge in proteomics biomarker research is to identify the changes that are of highest diagnostic interest, among the many unspecific aberrations associated with disease burden and inflammation. In the present study liver tissue specimens (n=18) from six experimental stages were collected from the resistant hepatocyte (RH) rat model of liver cancer and analyzed by 2D DIGE. The study included triplicates of regenerating liver, control "sham-operated" liver, three distinct premalignant stages and hepatomas. Out of 81 identified proteins two-thirds were differentially abundant in rat hepatomas compared to control rat liver and, secondly, the majority of proteins were also changed in precursor stages. This underscores the importance of adequate control samples in explorative cancer biomarker research. We confirm several proteomic changes previously identified in human hepatocellular carcinoma (HCC) and we identify novel candidate proteomic ...

2011-06-06

196

Y Chromosome microdeletion and altered sperm quality in human males with high concentration of seminal hexachlorocyclohexane (HCH).

Neuronal transcription factors play vital roles in the specification and development of neurons, including dopaminergic (DA) neurons. Mutations in the gene encoding the purine biosynthetic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause the resulting intractable and largely untreatable neurological impairment of Lesch-Nyhan disease (LND). The disorder is associated with a defect in basal ganglia DA pathways. The mechanisms connecting the purine metabolic defect and the central nervous system (CNS) phenotype are poorly understood but have been presumed to reflect a developmental defect of DA neurons. We have examined the effect of HPRT deficiency on the differentiation of neurons in the well-established human (NT2) embryonic carcinoma neurogenesis model. We have used a retrovirus expressing a small hairpin RNA (shRNA) to knock down HPRT gene expression and have examined the expression of a number of transcription factors essential for neuronal differentiation and ...

2009-08-11

197

The normal developmental regulation of a cloned sgs3 'glue' gene chromosomally integrated in Drosophila melanogaster by P element transformation.

2010-06-18

198

The mutT Defect Does Not Elevate Chromosomal Fragmentation in Escherichia coli Because of the Surprisingly Low Levels of MutM/MutY-Recognized DNA Modifications?

A 7-kb genomic segment containing the coding sequence for the Drosophila melanogaster Formosa variant of salivary gland secretion protein 3 (sgs3) has been inserted into the snw y, bw, st strain of...Full Text Available

1983-01-01

199

The association between male infertility and sperm disomy: Evidence for variation in disomy levels among individuals and a correlation between particular semen parameters and disomy of specific chromosome pairs

Nucleotide pool sanitizing enzymes Dut (dUTPase), RdgB (dITPase), and MutT (8-oxo-dGTPase) of Escherichia coli hydrolyze noncanonical DNA precursors to prevent incorporation of base...Full Text Available

2007-10-01

200

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

BackgroundThe association between infertility and sperm disomy is well documented. Results vary but most report that men with severely compromised semen parameters have a significantly...Full Text Available

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16

201

Salmonella enterica Serovar Typhimurium Expressing a Chromosomally Integrated Copy of the Bacillus anthracis Protective Antigen Gene Protects Mice against an Anthrax Spore Challenge

Targeted genome capture combined with next-generation sequencing was used to analyze 2.9 Mb of the DFNB79 interval on chromosome 9q34.3, which includes 108 candidate genes. Genomic...Full Text Available

2010-03-12

202

Overexpression of eIF-5A2 in mice causes accelerated organismal aging by increasing chromosome instability

Protective immunity against infection with Bacillus anthracis is almost entirely based on a response to the protective antigen (PA), the binding moiety for the two other toxin components....Full Text Available

2003-07-01

203

Ordered Cloned DNA Map of the Genome of Vibrio cholerae 569B and Localization of Genetic Markers

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

204

Multicolor FISH mapping with Alu-PCR-amplified YAC clone DNA determines the order of markers in the BRCA1 region on chromosome 17q12-q21

By using a low-resolution macrorestriction map as the foundation (R. Majumder et al., J. Bacteriol. 176:1105–1112, 1996), an ordered cloned DNA map of the 3.2-Mb chromosome of the hypertoxinogenic...Full Text Available

1998-02-01

205

Molecular characterization of cap3A, a gene from the operon required for the synthesis of the capsule of Streptococcus pneumoniae type 3: sequencing of mutations responsible for the unencapsulated phenotype and localization of the capsular cluster on the pneumococcal chromosome.

A gene designated BRCA1, implicated in the susceptibility to early-onset familial breast cancer, has recently been localized to chromosome 17q12-q21. To date, the order of DNA markers mapped within this region has been based on genetic linkage analysis. The authors report the use of multicolor fluorescence in situ hybridization to establish a physically based map of five polymorphic DNA markers and 10 cloned genes spanning this region. Three cosmid clones and Alu-PCR-Generated products derived from 12 yeast artificial chromosome clones representing each of these markers were used in two-color mapping experiments to determine an initial proximity of markers relative to each other on metaphase chromosomes. Interphase mapping was then employed to determine the order and orientation of closely spaced loci by direct visualization of fluorescent signals following hybridization of three probes, each detected in a different color. ...

1993-09-01

206

Haplotyping and copy number estimation of the highly polymorphic human beta-defensin locus on 8p23 by 454 amplicon sequencing

The complete nucleotide sequence of the cap3A gene of Streptococcus pneumoniae, which is directly responsible for the transformation of some unencapsulated, serotype 3 mutants to the encapsulated phenotype,...Full Text Available

1994-10-01

207

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43

BackgroundThe beta-defensin gene cluster (DEFB) at chromosome 8p23.1 is one of the most copy number (CN) variable regions of the human genome. Whereas individual DEFB CNs have been...Full Text Available

208

Double minutes arise from circular extrachromosomal DNA intermediates which integrate into chromosomal sites in human HL-60 leukemia cells.

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 ...

1996-09-01

209

Differential expression of human Fas mRNA species upon peripheral blood mononuclear cell activation.

Amplification of oncogenes has been found to be an important prognostic factor in behavior of patients' malignancies. In this study we have used new gel electrophoresis techniques to follow the location...Full Text Available

1990-06-01

210

Cloning, sequence analysis and over-expression of the gene for the class II fructose 1,6-bisphosphate aldolase of Escherichia coli.

Human Fas/Apo-1 is a cell-surface protein that mediates apoptosis upon ligation with Fas ligand. The gene lies on the long arm of chromosome 10, consists of nine exons, and spans more than 26 kb of...Full Text Available

1995-09-15

211

Chromosomal Integration of the Extended-Spectrum ?-Lactamase Gene bla_CTX-M-15 in Salmonella enterica Serotype Concord Isolates from Internationally Adopted Children?

Nucleotide sequence analysis of the Escherichia coli chromosomal DNA inserted in the plasmid pLC33-5 of the Clarke and Carbon library [Clarke & Carbon (1976) Cell 9, 91-99] revealed the existence...Full Text Available

1989-01-15

212

Cellular DNA region involved in induction of thymic lymphomas (Mlvi-2) maps to mouse chromosome 15.

We report the emergence of Salmonella enterica isolates of serotype Concord (and its monophasic variant 6,7:l,v:-) producing the extended-spectrum β-lactamases (ESBLs) SHV-12...Full Text Available

2009-05-01

213

Two cellular DNA regions representing common domains for proviral DNA integration ( Mlvi -1 and Mlvi -2) have been identified in Moloney murine leukemia virus-induced rat thymic lymphomas. Cellular...Full Text Available

1984-05-01

214

Assignment of the human aggrecan gene (AGC1) to 15q26 using fluorescence in situ hybridization analysis

The state of chromatin during the cell cycle was examined using synchronized cultures of CHO hamster cells. Results support Mazia's dynamic chromosome cycle model and indicate that DNA-interactive chemotherapeutic agents elicit different types of kinetic responses in treated cells, suggesting a degree of specificity of interaction between various alkylating and intercalating agents and the genome. Effects of sarkosyl crystals, heparin, and chemotherapeutic agents, neocarzinostatin and adriamycin, on chromation are discussed. (HLW)

1976-01-01

215

Analysis of the murine All-1 gene reveals conserved domains with human ALL-1 and identifies a motif shared with DNA methyltransferases.

The large aggregating proteoglycan aggrecan is a major structural component of the extracellular matrix of articular cartilage. Recent cDNA cloning of the human aggrecan gene (AGC1) reveals a core protein of at least 2316 amino acids characterized by several distinct structural domains. Two globular domains, termed G1 and G2, are present at the amino terminus of the molecule and a third, termed G3, is present at the carboxy terminus. The G1 domain is homologous in structure to the cartilage link protein and accounts for the aggregating potential of aggrecan through its ability to interact with hyaluronic acid. The aggrecan gene is known to consist of 15 exons, with each exon encoding a distinct functional region of the mature protein. However, while the link protein gene is known to reside on chromosome 5 in the human, the location of the aggrecan gene is currently undetermined in any species. The probe (pAGG2) for the aggrecan gene was mapped on ...

1993-05-01

216

Analysis of the 10q11 Cancer Risk Locus Implicates MSMB and NCOA4 in Human Prostate Tumorigenesis

A series of translocation break points found in a subset of human acute leukemias have one of the breaks on human chromosome 11q23. This region has recently been cloned and a large gene, ALL-1, with...Full Text Available

1993-07-01

217

A genetic model of melanoma tumorigenesis based on allelic losses

Genome-wide association studies (GWAS) have established a variant, rs10993994, on chromosome 10q11 as being associated with prostate cancer risk. Since the variant is located outside of a protein-coding...Full Text Available

2010-11-01

218

Performance characterization of a volumetric breast ultrasound scanner

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 ...

1994-09-01

219

Parametric Resonance Ionization Cooling and Reverse Emittance Exchange for Muon Collider

The purpose of this project was to design, build, and characterize the performance of a volume breast ultrasound (VBUS) scanner that images the pendant breast. VBUS scanner design includes a: 1) clinical ultrasound scanner and transducer; 2) scanning table with a hole for the pendant breast; 3) rotational gantry; 4) probe mounting assembly; 5) compressionless breast stabilization device; 6) acquisition, control, reconstruction, and display software. Performance assessment characterized a variety of parameters including: spatial resolution, uniformity, and distortion using high and low contrast test objects in both horizontal and vertical scanning modes. The VBUS scanner modules have been constructed and initial performance evaluated. Approximately 300 scans are acquired over 360 degrees in 18 seconds. Reconstruction requires 25 ms per slice. Test object images depicted hyper- and hypo-echoic masses and demonstrated good resolution, soft tissue contrast and reduced speckle compared to ...

2007-03-01

220

Epigenomic disruption: the effects of early developmental exposures.

Two methods to cool muon beams deeply below the limit conventionally established for the ionization cooling are proposed. In Phase Ionization Cooling (PIC), the beam is focused at wedge absorber plates each half of particle oscillation period by imposing a weak parametric resonance along the beam path. The resonance growth of particle amplitude is surmounted by the ionization cooling. At optimum, such arrangement results in reduction of each of two transverse emittances by an order of value in addition to the preceding 6D ionization cooling. Next, resonance focusing and transverse cooling can be continued in the regime of a fast Reverse Emittance Exchange (REMEX). Here, the sign of the absorber wedge is opposite to PIC while the dispersion increased. REMEX to be accompanied by the bunch lengthening and acceleration in order to maintain the relative energy spread at an appropriate level. The limitations due to energy straggling in absorber will be evaluated, and possibilities of beam ...

2005-09-18

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221

Broad-band stigmatic spectrograph for the soft x-ray range

Through DNA methylation, histone modifications, and small regulatory RNAs the epigenome systematically controls gene expression during development, both in utero and throughout life. The epigenome is also a very reactive system; its labile nature allows it to sense and respond to environmental perturbations to ensure survival during fetal growth. This pliability can lead to aberrant epigenetic modifications that persist into later life and induce numerous disease states. Endocrine-disrupting compounds (EDCs) are ubiquitous chemicals that interfere with growth and development. Several EDCs also interfere with epigenetic programming. The investigation of the epigenotoxic effects of bisphenol A (BPA), an EDC used in the production of plastics and resins, has further raised concern over the impact of EDCs on the epigenome. Using the Agouti viable yellow (A(vy)) mouse model, dietary BPA exposure was shown to hypomethylate both the A(vy) and the Cabp(IAP) metastable ...

2010-10-01

222

Application of the histone deacetylase inhibitors for the treatment of endometriosis: histone modifications as pathogenesis and novel therapeutic target.

We describe a panoramic stigmatic spectrograph comprising a grazing-incidence toroidal mirror and a large-aperture free-standing transmission diffraction grating (5000 lines mm-1 ). Two spectrograph versions were constructed, with grazing angles of 7.6 and 40 and the short-wavelength spectral limits near 4 and 1.5 nm. The spectrograph aberrations were studied by numerical ray tracing. The spectrograph was used to record line and quasi-continuous spectra (1.5 - 30 nm) of multiply charged ions in a plasma generated by the second-harmonic pulses of an yttrium aluminate laser (Q = 0.15 J, ? = 5 ns, ? = 0.54 ?m, repetition rate = 0.5 Hz). In combination with a laser-produced plasma radiation source, the arrangement was used to characterise soft x-ray optical components and to generate collimated beams of polarised radiation in the 14 - 20 nm range. (laser applications and other topics in quantum electronics)

1998-09-30

223

Age at onset in Huntington?s disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7

BACKGROUND Accumulating evidence suggests that various epigenetic aberrations play definite roles in the pathogenesis of endometriosis. We investigated the histone acetylation status in endometriosis and the application of the histone deacetylase inhibitors (HDACIs) for the treatment of endometriosis. METHODS The levels of acetylated histones in the endometriotic cyst stromal cells (ECSCs) and normal endometrial stromal cells (NESCs) were evaluated. The effects of the HDACIs on cell proliferation, the cell cycle, apoptosis of ECSCs and NESCs, and the expression of genes related to these cellular events were investigated. The effects of HDACIs on histone acetylation in chromatin of the promoter region of the cell cycle regulatory genes in ECSCs were also investigated. RESULTS The acetylated histone levels were significantly lower in ECSCs than in NESCs (P endometriosis and that HDACIs reactivated epigenetically silenced genes, resulting in the suppression of cell ...

2011-06-29

224

British Library Electronic Table of Contents (United Kingdom)

Huntington?s disease (HD) is caused by an expansion of a polyglutamine repeat of more than 35?units in the huntingtin protein. The expanded repeat length is inversely correlated with the age at onset (AAO); however, additional genetic factors apart from the expanded CAG repeat length can modify the course and the AAO in HD. Aberrations in macroautophagy have been observed in Huntington, Alzheimer, Parkinson, motor neuron and prion diseases. Therefore, we hypothesized that polymorphisms in autophagy-related (Atg) genes might contribute to the variation in the AAO. We initially tested eight single nucleotide polymorphisms in five Atg genes (Atg3, Atg5, Atg7, Atg16L1 and Beclin-1) for their frequency of ?1%. Subsequently, we investigated the polymorphisms Atg7 V471A and Atg16L1 T281A for a di...

2010-01-01

225

A single amino acid substitution results in a retinoblastoma protein defective in phosphorylation and oncoprotein binding

?Tasting and wasting?? behavior in non-human primates: Aberrant behavior or normal behavior in ?times of plenty??

The authors have previously identified a small-cell lung cancer cell line (NCI-H209) that expresses an aberrant, underphosphorylated form of the retinoblastoma protein RB1. Molecular analysis of RB1 mRNA from this cell line revealed a single point mutation within exon 21 that resulted in a nonconservative amino acid substitution (cysteine to phenylalanine) at codon 706. Stable expression of this mutant RB1 cDNA in a human cell line lacking endogenous RB1 demonstrated that this amino acid change was sufficient to inhibit phosphorylation. In addition, this cysteine-to-phenylalanine substitution also resulted in loss of RB1 binding to the simian virus 40 large tumor and adenovirus E1A transforming proteins. These results confirm the importance of exon 21 coding sequences and suggest that the cysteine residue at codon 706 may play a role in achieving a specific protein conformation essential for protein-protein interactions.

226

British Library Electronic Table of Contents (United Kingdom)

The purpose of this study was to develop a foraging model that engenders large meals. Eight free-feeding baboons were first given periodic access to a chocolate sugar-coated candy (M & Ms?) and then a jelly sugar-coated candy (Skittles?). Baboons had access to food 24?h each day, but they had to complete a two-phase operant procedure in order to eat. Responding on one lever during a 30-min appetitive phase was required before animals could start a consumption phase, where responding on another lever led to food delivery, i.e., a meal. 3?days a week for 8 or 9?weeks baboons received candy during the first meal and then food pellets were available: a 2?month interval when only pellets were available separated periods of candy access. All baboons ate as much candy in the single candy meal as ...

2006-01-01

227

S1 nuclease analysis of #alpha#-globin gene expression in preleukemic patients with acquired hemoglobin H disease after transfer to mouse erythroleukemia cells

Radiation-induced mutations at mouse hemoglobin loci

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 erythroleukemia cell can genetically complement ...

228

Molecular resemblance of an AIDS-associated lymphoma and endemic Burkitt lymphomas: Implications for their pathogenesis

In experiments designed to detect new mutations affecting hemoglobin, we irradiated the male or female parent in reciprocal crosses of two mouse strains that differ in alleles at the hemoglobin (Hba, Hbb) loci as well as at five other specific loci. Offspring were analyzed for hemoglobin properties (electrophoretic pattern, solubility, crystal pattern), serum albumin differences, erythrocyte lysis, reticulocyte count, and external appearance. Five hemoglobin variants were found among the mutants. In three, the genetic contribution from the irradiated father was not expressed with regard to the #alpha#-chain; one carried a tandem duplication (the first known case in the mouse) involving Hbb; and one probably resulted from double nondisjunction of chromosome 7. The finding that major chromosome aberratios can mimic hemoglobin mutations indicates the need, in similar experiments, to follow F_1 screening with thorough cytogenetic analysis. The ...

229

Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes

Non-Hodgkin lymphoma is a common feature of AIDS. Approximately 30-40% of these tumors exhibit clinical features suggestive of endemic Burkitt lymphoma: they are aggressive malignancies that occur in association with Epstein-Barr virus infection, they arise in the setting of immunosuppression, and they carry t(8;14) translocations without detectable rearrangement of the MYC oncogene. To understand the molecular basis of these parallels, the authors analyzed a case of Epstein-Barr-positive AIDS-associated undifferentiated lymphoma. Southern blots show that the tumor exhibits immunoglobulin joining segment rearrangement but no rearrangement of the MYC oncogene. Cloning of the rearranged joining segment allowed the isolation of recombinant clones encompassing the translocation breakpoint, and sequencing of the translocation junction disclosed that the breakpoint is situated 7 base pairs from the chromosome 14 site involved in a previously described endemic Burkitt ...

230

Mapping quantitative trait loci controlling milk production in dairy cattle by exploiting progeny testing

Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. Recent cloning of the murine and porcine radixin cDNAs revealed a protein highly homologous to ezrin and moesin. The authors have cloned and sequenced the human radixin cDNA and found the predicted amino acid sequence for the human protein to be nearly identical to those predicted for radixin in the two other species. By Southern analyses of Chinese hamster x human somatic cell hybrid DNA and of PCR products derived from hybrids, the coding gene (RDX) was mapped to 11q. Fluorescence chromosomal in situ hybridization with a cDNA plasmid further localized this gene to band 11q23. However, PCR amplification with [open quotes]radixin-specific[close quotes] primers on the hybrid DNA panel yielded an additional, very similar DNA sequence that was further characterized by direct sequencing of PCR products. This sequence represents a truncated version and the respective locus ...

1993-04-01

231

Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130

We have exploited {open_quotes}progeny testing{close_quotes} 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 tests based on the milking performances of >150,000 daughters jointly, was genotyped for 159 autosomal microsatellites bracketing 1645 centimorgan or approximately two thirds of the bovine genome. Using a maximum likelihood multilocus linkage analysis accounting for variance heterogeneity of the phenotypes, we identified five chromosomes giving very strong evidence (LOD score {ge} 3) for the presence of a QTL controlling milk production: chromosomes 1, 6, 9, 10 and 20. These findings demonstrate that loci with considerable effects on milk production are still segregating in highly selected populations and pave the way toward marker-assisted selection in dairy cattle breeding. 44 refs., 4 figs., 3 tabs.

1995-02-01

232

Human tissue factor pathway inhibitor (TFPI) gene: Complete genomic structure and localization on the genetic map of chromosome 2q

The chicken extracellular matrix glycoprotein ES/130 is necessary for epithelial-mesenchymal transformation in the developing hear and is also expressed in noncardiac chicken tissues such as limb and notochord. We have identified hES, the human homology of chicken ES/130. Fluorescence in situ hybridization analysis (FISH) localizes hES to human chromosome 20p11.2-p12. FISH analyses of individuals with 20p12 deletions and affected by Alagille syndrome exclude hES as a candidate gene for this disorder. Reverse transcriptase-polymerase chain reaction studies reveal that hES is expressed in both fetal and adult human tissues and that hES expression in the left ventricle is increased in the failing adult heart. Further studies will evaluate how hES mutations may relate to congenital human cardiac and skeletal anomalies as well as cardiac remodeling in the adult. 16 refs., 2 figs.

1996-08-01

233

Genomic cloning and chromosomal localization of HRY, the human homolog to the Drosophila segmentation gene, hairy

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.

1993-08-01

234

Copy number and orientation determine the susceptibility of a gene to silencing by nearby heterochromatin in Drosophila

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 marker and to assess its potential involvement in genetic ...

1994-03-01

235

Cloning and mapping of the mouse {alpha}7-neuronal nicotinic acetylcholine receptor

The classical phenomenon of position-effect variegation (PEV) is the mosaic expression that occurs when a chromosomal rearrangements moves a euchromatic gene near heterochromatin. A striking feature of this phenomenon is that genes far away from the junction with heterochromatin can be affected, as if the heterochromatic state {open_quotes}spreads.{close_quotes} We have investigated classical PEV of a Drosophila brown transgene affected by a heterochromatic junction {approximately} 60 kb away. PEV was enhanced when the transgene was locally duplicated using P transposase. Successive rounds of P transpose mutagenesis and phenotypic selection produced a series of PEV alleles with differences in phenotype that depended on transgene copy number and orientation. As for other examples of classical PEV, nearby heterochromatin was required for gene silencing. Modifications of classical PEV by alterations at a single site are unexpected, and these observations contradict ...

1996-02-01

236

Cloning and expression of a human kidney cDNA for an /alpha//sub 2/-adrenergic receptor subtype

We report the isolation of cDNA clones for the mouse {alpha}7 neuronal nicotinic acetylcholine receptor subunit (gene symbol Acra7), the only nicotinic receptor subunit known to bind a-bungarotoxin in mammalian brain. This gene may have relevance to nicotine sensitivity and to some electrophysiologic findings in schizophrenia. The mouse {alpha}7 subunit gene encodes a protein of 502 amino acids with substantial identity to the rat (99.6%), human (92.8%), and chicken (87.5%) amino acid sequences. The {alpha}7 gene was mapped to mouse chromosome 7 near the p locus with the following gene order from proximal to distal: Myod1-3.5 {+-}1.7 cM-Gas2-0.9 cM {+-} 0.9 cM-D7Mit70-1.8 {+-} 1.2 cM- Acra7-4.4 {+-}1.0 cM-Hras1-ps11/Igf1r/Snrp2a. The human gene was confirmed to map to the homologous region of human chromosome 15q13-q14. 26 refs., 3 figs.

1995-03-20

237

Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant coloboma

An /alpha//sub 2/-adrenergic receptor subtype has been cloned from a human kidney cDNA library using the gene for the human platelet /alpha//sub 2/-adrenergic receptor as a probe. The deduced amino acid sequence resembles the human platelet /alpha//sub 2/-adrenergic receptor and is consistent with the structure of other members of he family of guanine nucleotide-binding protein-coupled receptors. The cDNA was expressed in a mammalian cell line (COS-7), and the /alpha//sub 2/-adrenergic ligand (/sup 3/H)rauwolscine was bound. Competition curve analysis with a variety of adrenergic ligands suggests that this cDNA clone represents the /alpha//sub 2/B-adrenergic receptor. The gene for this receptor is on human chromosome 4, whereas the gene for the human platelet /alpha//sub 2/-adrenergic receptor (/alpha//sub 2/A) lies on chromosome 10. This ability to express the receptor in mammalian cells, free of other adrenergic receptor subtypes, should help ...

1988-09-01

238

A multi-marker model for detecting chromosomal segments displaying QTL activity

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 traits studied suggested that the best ...

1995-12-18

239

A major QTL on chromosome 11 influences psychostimulant and opioid sensitivity in mice

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 interactions among QTLs). Simultaneous use of several methods, ...

1993-08-01

240

British Library Electronic Table of Contents (United Kingdom)

The identification of genes influencing sensitivity to stimulants and opioids is important for determining their mechanism of action and may provide fundamental insights into the genetics of drug abuse. We used a panel of C57BL/6J (B6; recipient)x A/J (donor) chromosome substitution strains (CSSs) to identify quantitative trait loci (QTL) for both open field activity and sensitivity to the locomotor stimulant response to methamphetamine (MA). Mice were injected with saline (days 1 and 2) and MA (day 3; 2 mg/kg i.p.). We analyzed the total distance traveled in the open field for 30 min following each injection. CSS-8, -11 and -16 showed reduced MA-induced locomotor activity relative to B6, whereas CSS-10 and -12 showed increased MA-induced locomotor activity. Further analysis focused on CSS...

2009-01-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16

241

The genetic basis of salinity tolerance in Arctic charr (Salvelinus alpinus).

Radiation 2006. In association with the Polymer Division, Royal Australian Chemical Institute. Incorporating the 21st AINSE Radiation Chemistry Conference and the 18th Radiation Biology Conference, conference handbook

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 ...

2011-09-21

242

Convoluted cells as a marker for maternal cell contamination in CVS cultures

Full text: An adaptive response is a decreased biological effect induced by a priming radiation dose given prior to a challenge dose. Adaptive responses contradict the linear-nothreshold model of risk estimation. The pKZ1 mouse chromosomal inversion assay is an extremely sensitive assay for studying the mutagenic effect of low dose radiation. A non-linear dose response for chromosomal inversion has been observed in pKZ1 spleen and prostate after a single whole body irradiation with doses between 1?Gy and 10mGy. Doses between 5-10?Gy resulted in an induction in inversions and doses between 1-10mGy resulted in a reduction below endogenous inversion frequency. These results suggest that doses in the 1-10 mGy range cause host responses which overcompensate by not only preventing inversions that would normally occur as a result of the low doses of radiation but also by preventing some of the endogenous inversions that would have occurred in the ...

2006-04-01

243

DEFF Research Database (Denmark)

In order to identify cells of maternal origin in CVS cultures, tissue from 1st trimester abortions were cultivated and the cultures stained in situ for X-chromatin. Convoluted cells and maternal fibroblasts were found to be positive. By chromosome analysis of cultures from 105 diagnostic placenta biopsies, obtained by the transabdominal route, metaphases of maternal origin were found in nine cases. In eight of these cases colonies of convoluted cells were observed. We conclude that convoluted cells are of maternal origin and are a reliable marker for maternal cell contamination in CVS cultures.

1987-01-01

244

An application of possibilistic programming to the fuzzy location?allocation problems

British Library Electronic Table of Contents (United Kingdom)

This paper considers location?allocation problem in the real uncertain world and develops a possibilistic non-linear programming model to deal with this problem. Fuzzy decision making in fuzzy environment concept is used to determine possibility distribution of location and allocation variables. To solve this model, a novel approach based on genetic algorithm structure is developed. As the proposed model includes both deterministic (location) and uncertain (allocation) parameters, the developed solution algorithm uses a hybrid chromosome structure. Also, to cover continuous nature of the problem and prevent GA from early convergence, a new crossover operator is introduced. Finally, performance of the developed algorithm is evaluated by an example.

2011-01-01

245

Acute lymphoblastic leukemia with multiple cytogenetic abnormalities secondary to treatment of Ewing's sarcoma

The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3

We report the case of a 22-year-old man with Ewing's sarcoma who attained a complete remission (CR) after combination radiotherapy and chemotherapy. Secondary acute lymphoblastic leukemia with multiple cytogenetic abnormalities involving chromosome 5 and 7 developed 16 years later. The patient underwent induction chemotherapy and entered a CR. Peripheral blood stem cell transplantation from a matched sibling was performed successfully and he is in complete remission of both ALL and Ewing's sarcoma. (Copyright (c) 1999 Elsevier Science B.V., Amsterdam. All rights reserved.)

1999-06-01

246

Structure, Function, and Evolution of Rice Centromeres

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 conclude that jittery is not likely to be a genetic mouse ...

1996-08-01

247

Late-onset Stargardt-like macular dystrophy maps to chromosome 1p13

The centromere is the most characteristic landmark of eukaryotic chromosomes. Centromeres function as the site for kinetochore assembly and spindle attachment, allowing for the faithful pairing and segregation of sister chromatids during cell division. Characterization of centromeric DNA is not only essential to understand the structure and organization of plant genomes, but it is also a critical step in the development of plant artificial chromosomes. The centromeres of most model eukaryotic species, consist predominantly of long arrays of satellite DNA. Determining the precise DNA boundary of a centromere has proven to be a difficult task in multicellular eukaryotes. We have successfully cloned and sequenced the centromere of rice chromosome 8 (Cen8), representing the first fully sequenced centromere from any multicellular eukaryotes. The functional core of Cen8 spans ~800 kb of DNA, which was determined by chromatin ...

2010-02-04

248

Cloning, chromosomal assignment, and regulation of the rat thyrotropin receptor: Expression of the gene is regulated by thyrotropin, agents that increase cAMP levels, and thyroid autoantibodies

Stargardt`s disease (MIM 248200), originally described in 1909, is an autosomal recessive condition of childhood, characterized by a sudden and bilateral loss of central vision. Typically, it has an early onset (7 to 12 years), a rapidly progressive course and a poor final outcome. The central area of the retina (macula) displays pigmentary changes in a ring form with depigmentation and atrophy of the retinal pigmentary epithelium (RPE). Perimacular yellowish spots, termed fundus flavimaculatus, are observed in a high percentage of patients. We have recently reported the genetic mapping of Stargardt`s disease to chromosome 1p13. On the other hand, considering that fundus flavimaculatus (MIM 230100) is another form of fleck fundus disease, with a Stargardt-like retinal aspect but with a late-onset and a more progressive course, we decided to test the hypothesis of allelism between typical Stargardt`s disease and late-onset autosomal recessive fundus flavimaculatus. ...

1994-09-01

249

Use of polarized light microscopy in porcine reproductive technologies

A rat thyrotropin (thyroid-stimulating hormone, TSH) receptor cDNA was isolated that encoded a protein of 764 amino acids, M_r 86,528. Transfection of the cDNA caused COS-7 cells to develop a TSH-sensitive adenylate cyclase response and the ability to bind "1"2"5I-labeled TSH; both activities were similar to those of rat FRTL-5 thyroid cells and not duplicated by lutropin. The gene represented by the cDNA was assigned to mouse chromosome 12 and human chromosome 14. Northern analyses identified two species of mRNA, 5.6 and 3.3 kilobases, in FRTL-5 thyroid cells; the transcripts appeared to differ only in the extent of their 3' noncoding sequences. There were minimal amounts of the two mRNAs in rat ovary, and neither was detected in RNA preparations from rat testis, liver, lung, brain, spleen, and FRT thyroid cells, which do not have a functional TSH receptor. TSH decreased both mRNA species 3- to 4-fold within 8 hr in FRTL-5 thyroid cells; ...

1990-01-01

250

British Library Electronic Table of Contents (United Kingdom)

The meiotic spindle in the oocyte is composed of microtubules and plays an important role during chromosome alignment and separation at meiosis. Polarized light microscopy (PLM) could be useful for a non-invasive evaluation of the meiotic spindle and may allow removal of nuclear structures without fluorochrome staining and ultraviolet exposure. In this study, PLM was used to assess its potential application in porcine reproductive technologies. The objectives of the present study were to assess the efficiency of PLM to detect microtubule-polymerized protein in in vitro-matured porcine oocytes; to examine its effects on the oocyte developmental competence; to select oocytes based on the presence of the meiotic spindle detected by PLM; and to assess the efficiency oocyte enucleation assisted...

2011-01-01

251

Transformation by complementation of an adenine auxotroph of the lignin-degrading basidiomycete Phanerochaete chrysosporium

Programmed cell death during pigment gland formation in Gossypium hirsutum leaves

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.

1989-02-01

252

British Library Electronic Table of Contents (United Kingdom)

Abstract Ultrastructural studies have shown that the formation of pigment glands in Gossypium hirsutum L. leaves is a lysigenous process, originating from a cluster of cells in the ground meristem. Various techniques were used here to investigate whether programmed cell death (PCD) plays a critical role in this developmental process. Nuclei of internal cells in the pigment gland-forming tissue were TUNEL-positive and DAPI-negative, suggesting that DNA cleavage is an early event and complete DNA degradation is a late event. Smeared bands and a lack of laddering after gel electrophoresis indicate that DNA cleavage is random. Ultrastructurally, secretory cells in the pigment glands become distorted, nuclei are densely stained, and chromosomes become condensed until completely degraded at late...

2010-01-01

253

Nuclei with protrusions - tailed nuclei - and radiation cytogenetic markers in X-irradiated lymphocytes in vitro

Morphologie des cellules de levure et la reproduction sexuelle - Apercu general et quelques considerations

The results of an investigation into tailed nuclei (TN) and features of dose dependence on frequency of the binuclear cells with TN in human lymphocyte cultures by cytogenetic block method upon X-ray radiation dose are presented. The frequencies of metaphases with dicentric and ring chromosomes are investigated concurrent with TN formed upon completion of first postradiation mitosis. Frequency of the appearance of binuclear cells with nuclei having outgrowth into the cytoplasmic space and arises after first mitosis in human lymphocyte culture is linear-square dependent on the X-irradiation at doses from 0.0 to 4.0 Gy. Positive correlation between frequency of cells with tailed nuclei and frequency of metaphases of first mitosis having dicentric and rings was established. Apparently, formation such TN is connected with dicentric and rings

254

British Library Electronic Table of Contents (United Kingdom)

Over the decades, basic research in life sciences has profited greatly from the study of the small unicellular fungal species Saccharomyces cerevisiae. This yeast turned out to be key for the identification and understanding of molecular mechanisms that underlay the basic functions of all eukaryotic cells. These include, but are not limited to, the regulatory mechanisms behind cellular reproduction (cell cycle control), cellular morphogenesis (cell polarity, cytoskeleton and membrane trafficking) and the management of cellular information (chromosome biology, transcription and translation). Rapid access to genomic information of many yeast species, combined with bioinformatics analyses, provide information on the evolutionary history of yeasts and the molecular ancestry of their constituen...

2011-01-01

255

Laparoscopy and intersex: report of 5 cases of male pseudohermaphroditism.

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA

From May, 1999 to August, 2006, we performed laparoscopic diagnosis and treatment for 103 cases of impalpable testes. Among those we found 5 cases of male pseudohermaphroditism of different etiologies. Three males presented by impalpable testes with ambiguous genitalia and 2 females presented by primary amenorrhea. All of them have 46-XY normal male chromosomal pattern. In the first 3 cases, the etiology was complete gonadal dysgenesis, and 2 cases with persistent Mullerian syndrome. Timed gonadectomy for the first case and laparoscopic orchiopexy for the other 2 cases were performed. For the other 2 female cases, the etiology was complete androgen insensitivity syndrome and laparoscopic bilateral orchiectomy was performed for both of them. All the procedures were done without complications with satisfactory results. PMID:18319558

2008-02-01

256

Human cDNA mapping using fluorescence in situ hybridization

The Lesch-Nyhan (LN) syndrome is a severe X chromosome-linked disease that results from a deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT). The mutations leading to the disease are heterogeneous and frequently arise as de novo events. The authors have identified nucleotide alterations in 15 independently arising HPRT-deficiency cases by direct DNA sequencing of in vitro amplified HPRT cDNA. They also demonstrate that the direct DNA sequence analysis can be automated, further simplifying the detection of new mutations at this locus. The mutations include DNA base substitutions, small DNA deletions, a single DNA base insertion, and errors in RNA splicing. The application of these procedures allows DNA diagnosis and carrier identification by the direct detection of the mutant alleles within individual families affected by LN.

1989-03-01

257

Food-grade gene expression in lactic acid bacteria

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 in establishing the validity and throughput of the system.

1993-03-04

258

British Library Electronic Table of Contents (United Kingdom)

Abstract In the 1990s, significant efforts were invested in the research and development of food-grade expression systems in lactic acid bacteria (LAB). At this time, Lactococcus lactis in particular was demonstrated to be an ideal cell factory for the food-grade production of recombinant proteins. Steady progress has since been made in research on LAB, including Lactococcus, Lactobacillus and Streptococcus, in the areas of recombinant enzyme production, industrial food fermentation, and gene and metabolic pathway regulation. Over the past decade, this work has also led to new approaches on chromosomal integration vectors and host/vector systems. These newly constructed food-grade gene expression systems were designed with specific attention to self-cloning strategies, food-grade selection...

2011-01-01

259

Effects of retinoic acid on maturation of immature mouse oocytes in the presence and absence of a granulosa cell co-culture system

British Library Electronic Table of Contents (United Kingdom)

Purpose Evaluation of the all-trans retinoic acid (t-RA) effects on in vitro maturation (IVM) and in vitro fertilization (IVF) of immature mouse oocytes in the presence and absence of granulosa cell monolayer. Methods Denuded oocytes isolated from mice ovaries and matured in IVM medium alone (Control I), IVM medium in the presence of granulosa cells (Control II), IVM medium with t-RA (Experimental I) and IVM medium simultaneously with t-RA and granulosa cells (Experimental II). After 24?h, matured oocytes were fertilized in T6 medium and their development was followed until the blastocyst stage. Metaphase II oocytes ploidy were evaluated by chromosome counting. Results The t-RA group compared to the control groups showed no obvious abnormalities. Additionally maturation and embryo developm...

2011-01-01

260

Characteristics of radiation-induced neoplastic transformation in vitro

Biological and morphological characterization of human neonatal fibroblast cell culture B-HNF-1

Data are presented to support the hypothesis that the initial step in the morphologic transformation of irradiated rodent (BALB/3T3) cells is a frequent cellular event involving a large fraction of the irradiated population. This process appears to involve DNA damage, but not to represent a targeted mutation in specific structural gene(s). Morphologic transformation and immortalization appear to be distinct steps in the overall process of transformation. In contradistinction to rodent cells, immortalization is a very rare event in human diploid cells which is induced at extremely low frequencies. The hypothesis is presented that immortality develops among clones of cells bearing stable chromosomal rearrangements which emerge during the proliferation of a population of radiation damaged cells.

1986-01-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16

261

British Library Electronic Table of Contents (United Kingdom)

In the present study, human neonatal fibroblasts were isolated from a two-month-old human male. The purpose of the present investigation was the analysis of the morphology (light and transmission electron microscopy), karyotype and growth characteristics of the human neonatal fibroblast cell culture B-HNF-1. Moreover, STR typing and mitochondrial DNA amplification and sequencing was also performed. Analysis of chromosomes count showed that B-HNF-1 cell culture is diploid and has normal male karyotype 46, XY, which was stable during cultivation. The transmission electron microscopy demonstrated the ultra-structure of the B-HNF-1 cells; they have typical morphological features of proteosynthesis-active cells. Large number of fibroblasts bearing different shapes and surface characteristics ad...

2010-01-01

262

Association study of SNAP25 and schizophrenia in Irish family and case-control samples

British Library Electronic Table of Contents (United Kingdom)

SNAP25 occurs on chromosome 20p12.2, which has been linked to schizophrenia in some samples, and recently linked to latent classes of psychotic illness in our sample. SNAP25 is crucial to synaptic functioning, may be involved in axonal growth and dendritic sprouting, and its expression may be decreased in schizophrenia. We genotyped 18 haplotype-tagging SNPs in SNAP25 in a sample of 270 Irish high-density families. Single marker and haplotype analyses were performed in FBAT and PDT. We adjusted for multiple testing by computing q values. Association was followed up in an independent sample of 657 cases and 411 controls. We tested for allelic effects on the clinical phenotype by using the method of sequential addition and 5 factor-derived scores of the OPCRIT. Nine of 18 SNPs had P values <...

2010-01-01

263

Association and expression study of synapsin III and schizophrenia

British Library Electronic Table of Contents (United Kingdom)

The synapsin III gene, SYN3, which belongs to the family of synaptic vesicle-associated proteins, has been implicated in the modulation of neurotransmitter release and in synaptogenesis, suggesting a potential role in several neuropsychiatric diseases. The human SYN3 gene is located on chromosome 22q12-13, a candidate region implicated in previous linkage studies of schizophrenia. However, association studies of SYN3 and schizophrenia have produced inconsistent results. In this study, four SYN3 SNPs (rs133945 (-631 C>G), rs133946 (-196 G>A), rs9862 and rs1056484) were tested in three sets of totally 3759 samples that comprise 655 affected subjects and 626 controls in the Irish Case-Control Study of Schizophrenia (ICCSS), 1350 samples incorporating 273 pedigrees in the Irish Study of High D...

2009-01-01

264

Amphiphysin (Amph) maps to the proximal region of mouse chromosome 13

A genomic library-based amplification approach (GL-PCR) for the mapping of multiple IS6110 insertion sites and strain differentiation of Mycobacterium tuberculosis

Amphiphysin is a protein concentrated in neuronal synapses and peripherally associated with neurotransmitter vesicles. It is expressed in many neurons of the central and peripheral nervous systems, in the adrenal medulla, in the anterior and posterior pituitary, in cell lines of the endocrine pancreas, and in spermatocytes. Its subcellular localization and tissue distribution indicate a potential involvement in mechanisms of regulated exocytosis. A role in the dynamic organization of the membrane-associated cytoskeleton is suggested by structural homology to the products of two yeast genes, RVS161 and RVS167, whose mutation results in an abnormal actin distribution, disturbs budding morphology, and impairs cell entry into stationary phase. Limited stretches of sequence similarity, including an SH3 domain, are also shared with other actin-binding proteins. Amphiphysin is the dominant autoantigen in paraneoplastic Stiff-Man syndrome, a neurological autoimmune disorder characterized by ...

1995-07-20

265

British Library Electronic Table of Contents (United Kingdom)

Evidence suggests that insertion of the IS6110 element is not without consequence to the biology of Mycobacterium tuberculosis complex strains. Thus, mapping of multiple IS6110 insertion sites in the genome of biomedically relevant clinical isolates would result in a better understanding of the role of this mobile element, particularly with regard to transmission, adaptability and virulence. In the present paper, we describe a versatile strategy, referred to as GL-PCR, that amplifies IS6110-flanking sequences based on the construction of a genomic library. M. tuberculosis chromosomal DNA is fully digested with HincII and then ligated into a plasmid vector between T7 and T3 promoter sequences. The ligation reaction product is transformed into Escherichia coli and selective PCR amplification...

2006-01-01

266

A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25

Understanding feline heartworm infection: disease, diagnosis, and treatment.

The human mitochondrial DNA (mtDNA) is a closed circular, 16,569-bp double-stranded DNA, encoding 13 genes whose protein products are subunits of the oxidative phosphorylation system required for synthesis of most of the ATP consumed by eukaryotic cells. Point mutations of the mtDNA that cause multi-tissue, loss-of-energy syndromes, called mitochondrial encephalomyopathies (e.g., MERRF and MELAS), have been identified. In addition, large-scale deletions of the human mtDNA have been identified and are the molecular bases for the neonatal and adolescent onset loss-of-energy syndromes Pearson and Kearns-Sayer, respectively. 5 refs., 1 fig.

1997-03-01

267

Nanofocusing refractive X-ray lenses

Feline heartworm disease is a very different clinical entity from canine heartworm disease. In cats, the arrival and death of immature heartworms in the pulmonary arteries can cause coughing and dyspnea as early as 3 months postinfection. Adult heartworms suppress the function of pulmonary intravascular macrophages and thus reduce clinical disease in chronic feline heartworm infection. Approximately 80% of asymptomatic cats self-cure. Median survival time for symptomatic cats is 1.5 years, or 4 years if only cats living beyond the day of presentation are considered. Aberrant worm migration is more frequent than it is in dogs, and sudden death can occur with no prior clinical signs. The bacterial endosymbiont Wolbachia likely contributes to the inflammatory pathology of heartworm disease, but its role is not yet fully clear. Unfortunately, the diagnosis, treatment, and management of feline heartworm disease are far from simple. Antemortem diagnosis is hampered by ...

2010-11-01

268

Identifying surface structural changes in layered Li-excess nickel manganese oxides in high voltage lithium ion batteries: A joint experimental and theoretical study

This thesis is concerned with the optimization and development of the production of nanofocusing refractive X-ray lenses. These optics made of either silicon or diamond are well-suited for high resolution X-ray microscopy. The goal of this work is the design of a reproducible manufacturing process which allows the production of silicon lenses with high precision, high quality and high piece number. Furthermore a process for the production of diamond lenses is to be developed and established. In this work, the theoretical basics of X-rays and their interaction with matter are described. Especially, aspects of synchrotron radiation are emphasized. Important in X-ray microscopy are the different optics. The details, advantages and disadvantages, in particular those of refractive lenses are given. To achieve small X-ray beams well beyond the 100 nm range a small focal length is required. This is achieved in refractive lenses by moving to a compact lens design where several single lenses ...

2010-02-05

269

Gene rearrangement and radiation carcinogenesis

High voltage cathode materials Li-excess layered oxide compounds Li[Ni{sub x}Li{sub 1/3-2x/3}Mn{sub 2/3-x/3}]O{sub 2} (0 < x < 1/2) are investigated in a joint study combining both computational and experimental methods. The bulk and surface structures of pristine and cycled samples of Li[Ni{sub 1/5}Li{sub 1/5}Mn{sub 3/5}]O{sub 2} are characterized by synchrotron X-Ray diffraction together with aberration corrected Scanning Transmission Electron Microscopy (a-S/TEM). Electron Energy Loss Spectroscopy (EELS) is carried out to investigate the surface changes of the samples before/after electrochemical cycling. Combining first principles computational investigation with our experimental observations, a detailed lithium de-intercalation mechanism is proposed for this family of Li-excess layered oxides. The most striking characteristics in these high voltage high energy density cathode materials are (1) formation of tetrahedral lithium ions at voltage less ...

2011-09-06

270

A human breast cell model of pre-invasive to invasive transition

The development of leukemia and thyroid cancer is characterized by activation of the abl oncogene and ret oncogene, respectively. In order to clarify the relationship between these gene aberrations and radiation, the pro-myelogenous leukemia-derived cell line HL60 and the thyroid cancer-derived cell line 8505C, were irradiated in vitro with 100Gy of X-rays. RNA was then extracted from 10"8 cells of the respective cell lines and examined by the reverse transcription PCR method for rearrangements of abl and ret genes. Five kinds of positive bands were observed in the HL-60 cells irradiated with 100Gy of X-ray. Similarly, six positive bands were also observed in the 8505C cells irradiated with 100Gy. In vitro X-irradiation activation of oncogenes found in radiation induced cancers imply that gene rearrangement by X-rays is involved in the development of malignant tumors. Furthermore, in an experiment to detect radiation effects in A-bomb survivors, RNA was extracted ...

1993-11-01

271

The neuronal nicotinic acetylcholine receptor {alpha}7 subunit gene: Cloning, mapping, structure, and targeting in mouse

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 displayed metaplastic phenotypes, including squamous and basal ...

2008-03-10

272

Resistance to powdery mildew in Spanish barley landraces is controlled by different sets of quantitative trait loci.

The neuronal nicotinic acetylcholine receptor {alpha}7 subunit is a member of a family of ligand-gated ion channels, and is the only subunit know to bind {alpha}-bungarotoxin in mammalian brain. {alpha}-Bungarotoxin binding sites are known to be more abundant in the hippocampus of mouse strains that are particularly sensitive to nicotine-induced seizures. The {alpha}7 receptor is highly permeable to calcium, which could suggest a role in synaptic plasticity in the nervous system. Auditory gating deficiency, an abnormal response to a second auditory stimulus, is characteristic of schizophrenia. Mouse strains that exhibit a similar gating deficit have reduced hippocampal expression of the {alpha}7 subunit. We have cloned and sequenced the full length cDNA for the mouse {alpha}7 gene (Acra-7) and characterized its gene structure. The murine {alpha}7 shares amino acid identity of 99% and 93% with the rat and human {alpha}7 subunits, respectively. Using an interspecies backcross panel, the ...

1994-09-01

273

Mapping of the human cone transducin {alpha} subunit (GNAT2) gene to 1p13 and mutation analysis in patients with Stargardt`s disease

Twenty-two landrace-derived inbred lines from the Spanish Barley Core Collection (SBCC) were found to display high levels of resistance to a panel of 27 isolates of the fungus Blumeria graminis that exhibit a wide variety of virulences. Among these lines, SBCC145 showed high overall resistance and a distinctive spectrum of resistance compared with the other lines. Against this background, the main goal of the present work was to investigate the genetic basis underlying such resistance using a doubled haploid population derived from a cross between SBCC145 and the elite spring cultivar Beatrix. The population was genotyped with the 1,536-SNP Illumina GoldenGate Oligonucleotide Pool Assay (Barley OPA-1 or BOPA1 for short), whereas phenotypic analysis was performed using two B. graminis isolates. A major quantitative trait locus (QTL) for resistance to both isolates was identified on the long arm of chromosome 6H (6HL) and accounted for ca. 60% of the phenotypic ...

2011-07-08

274

Inherited partial direct duplication of 11q: First report and possible association with a midline developmental field defect

Transducin {alpha} subunits are members of a large family of G-proteins and play an important role in phototransduction in rod and cone photoreceptors. We report the localization of the human cone {alpha} transducin (GNAT2) gene using fluorescence in situ hybridization (FISH) on chromosome 1 in band p13. The recent assignment of a gene for Stargardt`s disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. Stargardt`s disease is characterized by degeneration in late childhood or early adulthood of the macula of the retina, a region rich in cones. We screened patients with Stargardt`s disease, with or without peripheral cone involvement as monitored by the full-field ERG, for mutations in this gene. We investigated 66 unrelated patients including 22 with peripheral cone dysfunction for mutations in the coding region of the GNAT2 gene using polymerase ...

1994-09-01

275

Genome Sequence of a Lancefield Group C Streptococcus zooepidemicus Strain Causing Epidemic Nephritis: New Information about an Old Disease

A 36-year-old woman underwent amniocentesis for advanced maternal age. The fetal karyotype had an extra dark staining G band on the long arm of chromosome 11 with no other identifiable abnormalities. FISH studies using a chromosome 11 paint probe confirmed the origin of the extra band. The abnormality was identified as a partial duplication of 11q: 46,XX dir dup (11)(q13.5q21) or (q21q23.1). The specific duplicated band could not be identified with certainty. Detailed fetal sonograms were normal. Family studies revealed the identical duplication in the mother but normal karyotypes in both maternal grandparents. The mother had strabismus and a short tongue frenulum which required surgical correction. Menses occurred late in adolescence and complete development of secondary sexual characteristics was delayed until adulthood. An infertility evaluation revealed duplication of the uterus, cervix, and vagina. An evaluation for metorrhagia identified ...

1994-09-01

276

Genetic and physical location of the gene for Stargardt`s disease and further evidence for genetic homogeneity

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, with genetically ...

2008-08-21

277

Genetic analysis of carbon isotope discrimination and its relation to yield in a wheat doubled haploid population.

Stargardt`s disease is inherited as an autosomal recessive condition characterized by a juvenile macular dystrophy. Genetic linkage analysis recently assigned the disease locus to chromosome 1p21-p13 with the best estimate for location of the gene near the locus D1S435. We performed linkage analysis in 34 North American families and 2 inbred families from the Kingdom of Saudi Arabia with 12 highly polymorphic markers on chromosome 1p flanking D1S435 between D1S207 and D1S223 and report significant linkage for all 12 markers with no evidence for genetic heterogeneity. Two-point linkage analysis demonstrated the Stargardt`s disease locus and D1S435 are linked with a maximum lod score of 17.17 at a recombination fraction of 1%. The markers UT851, D1S188, D1S424, UT2069, and D1S236 also demonstrated recombination fractions of 1% or less with two-point lod scores of 15.86, 21.93, 16.41, 20.36, and 17.37, respectively. To characterize this region ...

1994-09-01

278

Exploiting rice-sorghum synteny for targeted development of EST-SSRs to enrich the sorghum genetic linkage map.

Carbon isotope discrimination (?(13) C) is considered a useful indicator for indirect selection of grain yield (GY) in cereals. Therefore, it is important to evaluate the genetic variation in ?(13) C and its relationship with GY. A doubled haploid (DH) population derived from a cross of two common wheat varieties, Hanxuan 10 (H10) and Lumai 14 (L14), was phenotyped for ?(13) C in the flag leaf, GY and yield associated traits in two trials contrasted by water availability, specifically, rain-fed and irrigated. Quantitative trait loci (QTLs) were identified by single locus and two locus QTL analyses. QTLs for ?(13) C were located on chromosomes 1A, 2B, 3B, 5A, 7A and 7B, and QTLs for other traits on all chromosomes except 1A, 4D, 5A, 5B and 6D. The population selected for high ?(13) C had an increased frequency of QTL for high ?(13) C, GY and number of spikes per plant (NSP) when grown under rain-fed conditions and only for high ?(13) C and NSP ...

2011-09-01

279

Ectopic expression of a COOH-terminal fragment of the human telomerase reverse transcriptase leads to telomere dysfunction and reduction of growth and tumorigenicity in HeLa cells.

The sequencing and detailed comparative functional analysis of genomes of a number of select botanical models open new doors into comparative genomics among the angiosperms, with potential benefits for improvement of many orphan crops that feed large populations. In this study, a set of simple sequence repeat (SSR) markers was developed by mining the expressed sequence tag (EST) database of sorghum. Among the SSR-containing sequences, only those sharing considerable homology with rice genomic sequences across the lengths of the 12 rice chromosomes were selected. Thus, 600 SSR-containing sorghum EST sequences (50 homologous sequences on each of the 12 rice chromosomes) were selected, with the intention of providing coverage for corresponding homologous regions of the sorghum genome. Primer pairs were designed and polymorphism detection ability was assessed using parental pairs of two existing sorghum mapping populations. About 28% of these new ...

2009-08-08

280

Diagnosis and treatment of Ewing's sarcoma

The COOH-terminus of telomerase reverse transcriptase (hTERT) has been shown to participatein the nuclear translocation of TERT. Here, we constructed plasmids expressing the COOH-terminal M(r) 27,000 polypeptide of hTERT (hTERTC27) withthe telomerase RNA-binding domains and the reverse transcriptase domains deleted. We showed that ectopic overexpression of this polypeptide caused a defect in telomere maintenance in hTERT-positive HeLa cells, which led to senescence-like growth arrest and apoptosis. The hTERTC27 appears to work by inducing telomere dysfunction, exemplified by significantly increased anaphase chromosome end-to-end fusion events in transfected cells. Significantly, it had no effect on the cellular telomerase enzymatic activity or telomere length. The in vivo effect was further demonstrated as HeLa cells stably expressing hTERTC27 have significantly lower growth rate and reduced tumorigenicity in nude mice xenografts. Results from this study revealed ...

2002-06-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16

281

Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24

Ewing's sarcoma is a small round-cell tumor typically arising in the bones, rarely in soft tissues, of children and adolescents. Ewing's sarcoma has retained the most unfavorable prognosis of all primary musculoskeletal tumors. Prior to the use of multi-drug chemotherapy, long-term survival was less than 10%. The development of multi-disciplinary therapy with chemotherapy, irradiation, and surgery has increased current long-term survival rates in most clinical centers to greater than 50%. In addition, the preferred method of tumor resection has changed; limb salvage has nearly replaced amputation of the affected limb. Limb salvage procedures can be performed in place of amputation without compromising patient survival rates. Recent studies have revealed that the pathognomonic translocations involving the EWS gene on chromosome 22 and an ETS-type gene, which is most commonly the Fli1 gene on chromosome 11, are implicated in more than 95% of ...

2007-02-01

282

Observations on the contributions of environmental restraints and innate stem cell ability to hematopoietic regeneration

Duchenne and Becker muscular dystrophies are caused by defects of dystrophin, which forms a part of the membrane cytoskeleton of specialized cells such as muscle. It has been previously shown that the dystrophin-associated protein A1 (59-kDa DAP) is actually a heterogeneous group of phosphorylated proteins consisting of an acidic ({alpha}-A1) and a distinct basic ({beta}-A1) component. Partial peptide sequence of the A1 complex purified from rabbit muscle permitted the design of oligonucleotide probes that were used to isolate a cDNA for one human isoform of A1. This cDNA encodes a basic A1 isoform that is distinct from the recently described syntrophins in Torpedo and mouse and is expressed in many tissues with at least five distinct mRNA species of 5.9, 4.8, 4.3, 3.1, and 1.5 kb. A comparison of the human cDNA sequence with the GenBank expressed sequence tag (EST) data base has identified a relative from human skeletal muscle, EST25263, which is probably a human homologue of the ...

1994-05-10

283

Molecular studies of the uncoupling protein

A competitive repopulation assay utilizing chromosome markers was used to assay the reconstituting potential of hematopoietic populations. The test populations consisted of tibial murine marrow locally irradiated with doses ranging from 1.5 Gy to 8.5 Gy and of marrow generated from either murine splenic or marrow stem cells. The purpose of this assay was to assess the innate proliferative potential and microenvironmental influences on the ability to repopulate. Regardless of origin, spleen repopulating ability consistently agreed with spleen colony-forming unit (CFU-s) content. Doses of radiation from 5 Gy to 8.5 Gy diminished, by a factor of 2, the ability to repopulate marrow despite maintenance of CFU-s levels. Marrow generated from splenic stem cells had one-fifth the repopulating ability of marrow derived from marrow stem cells, even though CFU-s levels were equivalent. The results imply that the splenic environment can only maintain stem cells at the level of ...

1988-03-01

284

Modulating factors in the expression of radiation-induced oncogenic transformation

The uncoupling protein (UCP) is a proton/anion transporter found in the inner mitochondrial membrane of brown adipocyte. Although UCP has nor been detected in mitochondria from any other tissue, it shares structural and catalytic properties with several other mitochondrial carrier proteins. Although UCP was discovered only recently it is one of the most extensively studied mitochondrial carrier proteins.More recently, the mouse, rat, and human genes encoding for UCP have been isolated and sequenced. The availability of these various tools has led to several significant observations. UCP gene expression is strongly controlled at the level of transcription by signals that are activated after the stimulation of brown adipocytes by norepinephrine. The comparison of UCP gene with the genes encoding the adenine nucleotide translocator revealed the existence of structural and evolutionary homologies. Moreover, in humans the UCP gene and one form of adenine nucleotide translocator gene are ...

1991-06-01

285

Modulating factors in the expression of radiation-induced oncogenic transformation

Many assays for oncogenic transformation have been developed ranging from those in established rodent cell lines where morphological alteration is scored, to those in human cells growing in nude mice where tumor invasiveness is scored. In general, systems that are most quantitaive are also the least relevant in terms of human carcinogenesis and human risk estimation. The development of cell culture systems has made it possible to assess at the cellular level the oncogenic potential of a variety of chemical, physical and viral agents. Cell culture systems afford the opportunity to identify factors and conditions that may prevent or enhance cellular transformation by radiation and chemicals. Permissive and protective factors in radiation-induced transformation include thyroid hormone and the tumor promoter TPA that increase the transformation incidence for a given dose of radiation, and retinoids, selenium, vitamin E, and 5-aminobenzamide that inhibit the expression of transformation. ...

1990-08-01

286

Mechanisms of ozone tolerance in rice: characterization of two QTLs affecting leaf bronzing by gene expression profiling and biochemical analyses

1990-01-01

287

British Library Electronic Table of Contents (United Kingdom)

High surface ozone concentration is increasingly being recognized as a factor that negatively affects crop yields in Asia. However, little progress has been made in developing ozone-tolerant genotypes of rice-Asias major staple crop. This study aimed to identify possible tolerance mechanisms by characterizing two quantitative trait loci (QTLs) that were previously shown to influence visible leaf symptoms under ozone exposure (120 nl l-1, 7 h d-1, 13 d). Two chromosome segment substitution lines (SL15 and SL41) that carried introgressions of the QTLs OzT3 and OzT9, respectively, were exposed to ozone at 120 nl l-1 along with their parent Nipponbare. In accordance with the expected QTL effect, SL15 showed stronger visible symptoms of ozone damage than Nipponbare, whereas SL41 had fewer sympt...

2010-01-01

288

Light-dependent regulation of DEL1 is determined by the antagonistic action of E2Fb and E2Fc.

Identification of three related human GRO genes encoding cytokine functions

Endoreduplication represents a cell cycle variant during which multiple rounds of DNA replication occur without subsequent chromosome separation and cytokinesis, resulting into a cellular increase of the DNA content. Although the DNA ploidy level of cells is controlled by external stimuli such as light, currently limited knowledge is available on how environmental signals regulate the endoreduplication cycle at the molecular level. Previously, we have demonstrated that the conversion from the mitotic cell cycle into an endoreduplication cycle is mediated by the atypical E2F transcription factor DEL1 that operates as a repressor of endocycle onset. Here, we identified DEL1 as a transcriptional target of the classical E2Fb and E2Fc transcription factors that antagonistically control DEL1 transcript levels through competition for a single E2F cis-acting binding site. Correspondingly with the reported opposite effect of light on the E2Fb and E2Fc protein levels, the ...

2011-09-01

289

Human cDNA mapping using fluorescence in situ hybridization. Progress report, April 1, 1992--December 31, 1992

The product of the human GRO gene is a cytokine with inflammatory and growth-regulatory properties; GRO is also called MGSA for melanoma growth-stimulatory activity. The authors have identified two additional genes, GRO#beta# and GRO#gamma#, that share 90% and 86% identity at the deduced amino acid level with the original GRO#alpha# isolate. One amino acid substitution of proline in GRO#alpha# by leucine in GRO#beta# and GRO#gamma# leads to a large predicted change in protein conformation. Significant differences also exist in the 3' untranslated region, including different numbers of ATTTA repeats associated with mRNA instability. A 122-base-pair region in the 3' region is conserved among the three GRO genes, and a part of it is also conserved in the Chinese hamster genome, suggesting a role in regulation. DNA hybridization with oligonucleotide probes and partial sequence analysis of the genomic clones confirm that the three forms are derived from related but different genes. Only one ...

290

Gene linked to Lou Gehrig's disease

1993-03-04

291

Construction of a human MluI YAC library

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 ...

1993-03-05

292

Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis.

The authors describe a cloning strategy for the construction of a human genomic library in yeast artificial chromosomes (YACs) based on complete digestion of high-molecular-weight DNA with the infrequently cutting restriction enzyme MluI. Cloning of MluI fragments in the vector pYAC-RC and one subsequent size fractionation by preparative pulsed-field gel electrophoresis yielded a library with average insert sizes of 600 kb. Ninety-seven percent of the colonies were recombinant. An additional size fractionation of MluI fragments prior to ligation had no significant influence on the size of the YACs. The library currently consists of 5000 clones, which is the equivalent of one human genome. Nineteen percent of the YACs were larger than 1.2 Mb. Since smaller MluI fragments are lost during sizing, they also performed cloning without size fractionation. Only 20% of the colonies were recombinant, probably due to unligated vector fragments that were present during the ...

1994-05-01

293

CHRNA5 as negative regulator of nicotine signaling in normal and cancer bronchial cells: effects on motility, migration and p63 expression

N-ethyl-N-nitrosourea (ENU) mutagenesis has led to the elucidation of several regulator genes for melanocyte and skin development. Here we characterized a mutant from ENU mutagenesis with similar phenotype as that of Splotch mutant, including exencephaly, spina bifida and abnormal limbs in homozygotes as well as white belly spotting and occasionally loop-tail in heterozygotes. This novel mutant was named as Sp(xG). Through genome-wide linkage analysis in backcross progenies with microsatellite markers, the Sp(xG) was confined to a region between D1MIT415 and D1MIT7 on chromosome 1, where notable Pax3 gene was located. Direct sequencing revealed that Sp(xG) carried a nucleotide A894G missense transition in exon 6 of Pax3 gene that resulted in Asn to Asp substitution at amino acid 269 within the highly-conserved homeodomain (HD) DNA recognition module, which was the first point mutation found in this domain in mice. This N269D mutation impaired the transactivation ...

2011-07-19

294

British Library Electronic Table of Contents (United Kingdom)

Genome-wide association studies have linked lung cancer risk with a region of chromosome 15q25.1 containing CHRNA3, CHRNA5 and CHRNB4 encoding a3, a5 and b4 subunits of nicotinic acetylcholine receptors (nAChR), respectively. One of the strongest associations was observed for a non-silent single-nucleotide polymorphism at codon 398 in CHRNA5. Here, we have used pharmacological (antagonists) or genetic (RNA interference) interventions to modulate the activity of CHRNA5 in non-transformed bronchial cells and in lung cancer cell lines. In both cell types, silencing CHRNA5 or inhibiting receptors containing nAChR a5 with a-conotoxin MII exerted a nicotine-like effect, with increased motility and invasiveness in vitro and increasing calcium influx. The effects on motility were enhanced by addit...

2011-01-01

295

Association study of SNAP25 and schizophrenia in Irish family and case-control samples.

A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (A{sup y}) mutation

2010-03-01

296

Modulation of neuronal differentiation by CD40 isoforms

Lethal yellow (A{sup y}) is a mutation at the mouse agouti locus in chromosome 2 that causes a number of dominant pleiotropic effects, including a completely yellow coat color, obesity, an insulin-resistant type II diabetic condition, and an increased propensity to develop a variety of spontaneous and induced tumors. Additionally, homozygosity for A{sup y} results in preimplantation lethality, which terminates development by the blastocyst stage. The A{sup y} mutation is the result of a 170-kb deletion that removes all but the promoter and noncoding first exon of another gene called Raly, which lies in the same transcriptional orientation as agouti and maps 280 kb proximal to the 3{prime} end of the agouti gene. The authors present a model for the structure of the A{sub y} allele that can explain the dominant pleiotropic effects associated with this mutation, as well as the recessive lethality, which is unrelated to the agouti gene.

1994-03-29

297

Local chromatin structure of heterochromatin regulates repeatedDNA stability, nucleolus structure, and genome integrity

Neuron differentiation is a complex process involving various cell-cell interactions, and multiple signaling pathways. We showed previously that CD40 is expressed and functional on mouse and human neurons. In neurons, ligation of CD40 protects against serum withdrawal-induced injury and plays a role in survival and differentiation. CD40 deficient mice display neuron dysfunction, aberrant neuron morphologic changes, and associated gross brain abnormalities. Previous studies by Tone and colleagues suggested that five isoforms of CD40 exist with two predominant isoforms expressed in humans: signal-transducible CD40 type I and a C-terminal truncated, non-signal-transducible CD40 type II. We hypothesized that differential expression of CD40 isoform type I and type II in neurons may modulate neuron differentiation. Results show that adult wild-type, and CD40"-"/"- deficient mice predominantly express CD40 type I and II isoforms. Whereas adult wild-type mice express ...

2008-05-02

298

Unraveling photosystems. Final technical report

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) pathway. My thesis project ...

2007-05-05

299

This report highlights four main points. (1) A residue substitution in phosphoribulokinase of Synechocystis PCC 6803 renders the mutant light-sensitive. The authors isolated a light-sensitive mutant (BRLS) of the photosynthetic cyanobacterium Synechocystis 6803 that does not survive exposure to bright light; 70% of BRLS cells die upon exposure to light of > 3000 lux for 2 hr. (2) Excitation energy transfer from phycocyanin to chlorophyll in an apcA-defective mutant of Synechocystis sp. PCC 6803. A greenish mutant of the normally bule-green cyanobacterium Synechocystis sp. PC 6803, designated UV6p, was isolated and characterized. UV6p possesses functional photosystems I and II but lacks normal light harvesting phycobilisomes because allophycocyanin is absent and core-specific linker proteins are almost entirely absent. (3) Deletion of the psbG1 gene of the cyanobacterium Synechocystis sp. PCC 6803 leads to the activation of the cryptic psbG2 gene. The genes psbG1 and psbG2 in ...

1997-09-01

300

Magnetic resonance imaging of cerebral anomalies in subjects with resistance to thyroid hormone

Full text: The general population is daily exposed to chronic, low doses of ionizing radiation (IR) from both natural and artificial sources. The biological consequences of acute, high dose IR exposure can be readily determined; however, the nature and significance of low dose, low dose-rate IR effects are still the subject of debate. Confounding the issue, are the phenomena collectively referred to as the Radiation-induced Bystander Effect (RIBE). The RIBE describes a collection of in vitro observations that suggest the presence of a soluble, transmissible factor(s) released from irradiated cells that can induce a biological response in un-irradiated cells. The induction, nature and magnitude of the RIBE varies between cell culture systems, radiation sources and end-points measured. Efforts to confirm the presence of the RIBE in vivo have been confined to in vivo-like culture systems and limited work with tumour and bone-marrow transplantation models. Validation of the RIBE in vivo ...

2006-01-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16

301

Linkage analysis in familial Angelman syndrome

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 ...

1995-06-19

302

Investigation of genomic instability by assay of DNA fingerprint from the offspring of male mice exposed to chronic low-level #gamma#-radiation

Familial Angelman syndrome (AS) can result from mutations in chromosome 15q11q13 that, when transmitted from father to child, result in no phenotypic abnormality but, when transmitted from mother to child, cause AS. These mutations therefore behave neither as dominant nor as recessive mutations but, rather, show an imprinted mode of inheritance. The authors have analyzed two sibling pairs with AS and a larger family with four AS offspring of three sisters with several recently described microsatellite polymorphisms in the AS region. AS siblings inherited the same maternal alleles at the GABRB3 and GABRA5 loci, and the unaffected siblings of AS individuals inherited the other maternal alleles at these loci. In one of the AS sibling pairs, analysis of a recombination event indicates that the mutation responsible for AS is distal to locus D15S63. This result is consistent with a previously described imprinted submicroscopic deletion causing AS, a deletion that ...

1993-07-01

303

Induction and use of sex linked lethal mutations in the pink bollworm

By polymerase chain reaction with arbitrary primer (AP-PCR), the possibility of transmission of genome instability to somatic cells of the offspring (F_1 generation) from male parents of mice exposed to chronic low-dose #gamma#-radiation was studied. Male mice 15 days after exposure to 10-50 cGy were mated with unirradiated females. Biopsies were taken from tale tips of two month-old mice progeny for DNA separation. Primer in the AP-PCR was 20-mer oligonucleotide flanking the micro-satellite locus Atplb2 on chromosome 11 of the mouse. Comparative analysis of individual fingerprints of AP-PCR products on DNA-templates from the offspring of irradiated and unirradiated male mice revealed an increased variability of micro-satellite-associated sequences in the genome of the offspring of males exposed to 25 and 50 cGy. DNA-fingerprints of the offspring of male mice exposed to chronic irradiation doses 10 and 25 cGy. 15 days before fertilization (at the post-meiotic stage ...

2000-11-20

304

In vivo footprinting of the human [alpha]-globin locus upstream regulatory element by guanine and adenine ligation-mediated polymerase chain reaction

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 treatment may be detected ...

1987-11-16

305

Hybrid incompatibilities in the parasitic wasp genus Nasonia: negative effects of hemizygosity and the identification of transmission ratio distortion loci.

A major regulatory element required for expression of the human [alpha]-globin genes is located 40 kb upstream of the embryonic [zeta]-globin gene. To understand how this and other locus control region (LCR) elements contribute to high-level expression in erythroid cells, we have performed high-resolution, in vivo dimethyl sulfate footprinting. In addition, we have modified the dimethyl sulfate-based ligation-mediated polymerase chain reaction in vivo footprinting procedure to permit the assessment of interactions at guanine and adenine residues, rather than guanines alone. In vivo footprinting of the human [alpha]-LCR element carried on chromosome 16 in a mouse erythroleukemia cell environment revealed protein occupancy at GATA-1, AP-1/NF-E2, and CACC/GGTGG motifs, specific differences compared with in vitro protein binding, and distinct changes in one region upon dimethyl sulfoxide-induced cellular maturation. No protein contacts were detected in nonexpressing ...

1992-05-01

306

Harm to the cell and harm to the individual

The occurrence of hybrid incompatibilities forms an important stage during the evolution of reproductive isolation. In early stages of speciation, males and females often respond differently to hybridization. Haldane's rule states that the heterogametic sex suffers more from hybridization than the homogametic sex. Although haplodiploid reproduction (haploid males, diploid females) does not involve sex chromosomes, sex-specific incompatibilities are predicted to be prevalent in haplodiploid species. Here, we evaluate the effect of sex/ploidy level on hybrid incompatibilities and locate genomic regions that cause increased mortality rates in hybrid males of the haplodiploid wasps Nasonia vitripennis and Nasonia longicornis. Our data show that diploid F(1) hybrid females suffer less from hybridization than haploid F(2) hybrid males. The latter not only suffer from an increased mortality rate, but also from behavioural and spermatogenic sterility. Genetic mapping in ...

2011-08-31

307

Gene expression profiles deciphering rice phenotypic variation between Nipponbare (Japonica) and 93-11 (Indica) during oxidative stress.

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 ...

1983-04-11

308

Detection of polychlorinated biphenyl degradation genes in polluted sediments by direct DNA extraction and polymerase chain reaction

Rice is a very important food staple that feeds more than half the world's population. Two major Asian cultivated rice (Oryza sativa L.) subspecies, japonica and indica, show significant phenotypic variation in their stress responses. However, the molecular mechanisms underlying this phenotypic variation are still largely unknown. A common link among different stresses is that they produce an oxidative burst and result in an increase of reactive oxygen species (ROS). In this study, methyl viologen (MV) as a ROS agent was applied to investigate the rice oxidative stress response. We observed that 93-11 (indica) seedlings exhibited leaf senescence with severe lesions under MV treatment compared to Nipponbare (japonica). Whole-genome microarray experiments were conducted, and 1,062 probe sets were identified with gene expression level polymorphisms between the two rice cultivars in addition to differential expression under MV treatment, which were assigned as Core Intersectional Probesets ...

2010-01-08

309

Association and expression study of synapsin III and schizophrenia.

It was the aim of this study to specifically detect the DNA sequences for the bphC gene, the meta-cleavage enzyme of the aerobic catabolic pathway for biphenyl and polychlorinated biphenyl degradation, in aquatic sediments without prior cultivation of microorganisms by using extraction of total DNA, PCR amplification of bphC sequences, and detection with specific gene probes. The direct DNA extraction protocol used was modified to enhance lysis efficiency. Crude extracts of DNA were further purified by gel filtration, which yielded DNA that could be used for the PCR. PCR primers were designed for conserved regions of the bphC gene from a sequence alignment of five known sequences. The specificity of PCR amplification was verified by using digoxigenin-labeled DNA probes which were located internal to the amplified gene sequence. The detection limit for the bphC gene of Pseudomonas paucimobilis Q1 and Pseudomaonas sp. strain LB 400-like sequences for the bphC gene were detected, but P. ...

1993-12-01

310

A Wheat Homolog of MOTHER OF FT AND TFL1 Acts in the Regulation of Germination.

2009-09-19

311

Tissue structure, nuclear organization and gene expression in normal and malignant breast

Seed dormancy is an adaptive mechanism and an important agronomic trait. Temperature during seed development strongly affects seed dormancy in wheat (Triticum aestivum) with lower temperatures producing higher levels of seed dormancy. To identify genes important for seed dormancy, we used a wheat microarray to analyze gene expression in embryos from mature seeds grown at lower and higher temperatures. We found that a wheat homolog of MOTHER OF FT AND TFL1 (MFT) was upregulated after physiological maturity in dormant seeds grown at the lower temperature. In situ hybridization analysis indicated that MFT was exclusively expressed in the scutellum and coleorhiza. Mapping analysis showed that MFT on chromosome 3A (MFT-3A) colocalized with the seed dormancy quantitative trait locus (QTL) QPhs.ocs-3A.1. MFT-3A expression levels in a dormant cultivar used for the detection of the QTL were higher after physiological maturity; this increased expression correlated with a ...

2011-09-01

312

Global Molecular Characterization of the Chromate Stress Response in Shewanella oneidensis MR-1: Identification of a Putative DNA-Binding Response Regulator and Azoreductase Involved in Cr(VI) Detoxification

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 the nucleus, where ...

2000-01-27

313