UK PubMed Central (United Kingdom)

Active Activator (Ac) elements undergo mutations to become nonautonomous Dissociation (Ds) elements at a low frequency. To understand...Full Text Available

International Nuclear Information System (INIS)

Spontaneous and ultraviolet-induced changeabilities of wine yeasts from the killer state to sensitive one have been studied. Observed often spontaneous changes of killer and neutral phenotypes under laboratory store conditions as well as high mutation frequency of genetic elements responsible for the killer indication on ultraviolet irradiation testify that often encounterability in nature and in the production of sensitive yeasts is attributed to high frequency of mutation changes of the killer and neutral phenotypes to the sensitive state.

UK PubMed Central (United Kingdom)

BackgroundMutations that impair mitochondrial functioning are associated with a variety of metabolic and age-related disorders. A barrier to rigorous tests of the role of mitochondrial...Full Text Available

International Nuclear Information System (INIS)

Techniques of chemical analysis, amino acid sequencing and autoradiography are being used to study the frequency of incorporation of normally noncoded amino acids into hemoglobins and seminal fluid proteins. We are studying, by the sequencing of radiolabeled proteins followed by the recovery of ["3H] isoleucine phenylthiohydantoin by high-performance liquid chromatography, the frequency at which normally noncoded isoleucine is incorporated into hemoglobin because of base-substitution mutations versus translational errors. Irradiation increases the isoleucine content of human hemoglobin and the frequency of substitution of isoleucine for specific amino acids in rabbit hemoglobin. Studies to date indicate that these techniques have been developed sufficiently for initial analysis of the potential of drugs and environmental pollutants to induce base-substitution mutations in mammalian ...

International Nuclear Information System (INIS)

We have at hand the tools for development of both a single amino acid substitution and a gene loss type assay for somatic cell mutations in human red cells. We are close to being able to assess the assays as possible means for screening the human population for individuals who may be a risk of acquiring abnormally high frequencies of mutant cells. The cause for such a high frequency of mutant cells could be a prior exposure of the individual to large amount of mutagen, or it could indicate a member of a vulnerable subpopulation that may have poor DNA repair systems. Either of these cases could well be an indication that the particular individual is at high risk that exposure to mutagens could lead to potential pathology. In the near future we expect to determine the reliability of the assays and to perform experiments to confirm the validity of flow cytometry in measuring real somatic mutagenic events that occur in vivo. ...

UK PubMed Central (United Kingdom)

In recent years, the interest in the use of bacteria for biological control of plant-pathogenic fungi has increased. We studied the possible side effects of coating barley seeds with the antagonistic...Full Text Available

UK PubMed Central (United Kingdom)

Colonization of barley (Hordeum vulgare cv Salome) roots by an arbuscular mycorrhizal fungus, Glomus intraradices Schenck & Smith, leads to elevated levels...Full Text Available

UK PubMed Central (United Kingdom)

Small RAC/ROP-family G proteins regulate development and stress responses in plants. Transient overexpression and RNA interference experiments suggested that the barley (Hordeum vulgare)...Full Text Available

UK PubMed Central (United Kingdom)

Many plants are known to reduce the toxic effects of high soil boron (B) by reducing uptake of B, but no mechanism for limiting uptake has previously been identified. The B-tolerant cultivar of barley...Full Text Available

Science.gov (United States)

We developed mice with germline endogenous expression of oncogenic Hras to study effects on development and mechanisms of tumor initiation. They had high perinatal mortality, abnormal cranial dimensions, defective dental ameloblasts, and nasal septal deviation, consistent with some of the features of human Costello syndrome. These mice developed papillomas and angiosarcomas, which were associated with Hras(G12V) allelic imbalance and augmented Hras signaling. Endogenous expression of Hras(G12V) was also associated with a higher mutation rate in vivo. Tumor initiation by Hras(G12V) likely requires augmentation of signal output, which in papillomas and angiosarcomas is achieved via increased Hras-gene copy number, which may be favored by a higher mutation frequency in cells expressing the oncoprotein. PMID:19416908

Energy Technology Data Exchange (ETDEWEB)

Large-scale field tracer experiments have been conducted on Ulchin, Wolsung and Daeduk sites for the purpose of validating FADAS and of analyzing the environmental characteristics around the nuclear sites. The most influential factor in atmospheric dispersion is the meteorological condition. During the experiment, meteorological data were measured on the release point and the selected positions among sampling points. Once radioactive materials are released to the atmosphere, members of public may be exposed through the environmental media such as air, soil and foods. Therefore, to protect the public, adequate countermeasures should be taken at due time for those exposure pathways. both processes, of justification and optimization are applied to a countermeasure simultaneously for decision-making. The work scope of Biological research for the radiation protection had contained the search of biological microanalytic methods for assessing the health effect by {gamma}-radiation and toxic ...

International Nuclear Information System (INIS)

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).

UK PubMed Central (United Kingdom)

The effects of low concentrations (10 nm or less) of indoleacetic acid and abscisic acid on the phytochrome-mediated attachment of barley root (Hordeum vulgare L., var. Compana)...Full Text Available

UK PubMed Central (United Kingdom)

Influx and accumulation of K⁺ in barley (Hordeum vulgare L. cv Fergus) roots were measured at two temperatures (10°C and 20°C) in plants which had been grown...Full Text Available

KoreaScience (Korea)

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Energy Technology Data Exchange (ETDEWEB)

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 ...

International Nuclear Information System (INIS)

This report briefly describes the studies on the mechanism of in vivo DNA repairing by the author in Research Reactor Institute, Kyoto Univ. for the past 30 years. First, the ability of UV radiation to induce transformation was investigated with viral DNA. The formation of thymine-thymine dimer was found harmful to organisms and such dimers were removable by UV-radiation at a low frequency. The mutability was determined in three different E.coli strains with mutator gene, mutT, mutS or mutL. The ability to excise 8-oxoguanin developed in primer DNA was deficient in mutT and miss-pairing left after DNA replication could not be recovered in mutL and mutS strains. Further, DNA repairing mechanism was investigated in other microorganisms; single-strand cleavage caused by exposure to BNCB radiation (boron-neutron-captured beam) could not be repaired in E. coli. Whereas for Deinococcus radiodurans, of which survival rate was not decreased by ...

UK PubMed Central (United Kingdom)

The chloroplast and cytoplasmic isoenzymes of phosphoglycerate kinase (PGK) (EC. 2.7.2.3) from Hordeum vulgare leaves have been separated and purified for the first time to apparent...Full Text Available

UK PubMed Central (United Kingdom)

NADPH nitrate reductase activity in higher plants has been attributed to the presence of NAD(P)H bispecific nitrate reductases and to the presence of phosphatases capable of hydrolyzing NADPH to NADH....Full Text Available

UK PubMed Central (United Kingdom)

The phytochrome-mediated attachment of root tips of mung bean (Phaseolus aureus) and barley (Hordeum vulgare) to glass is affected by the prior exposure of hydrated...Full Text Available

International Nuclear Information System (INIS)

Juvenile trees of kalmia derived from shoot tip culture, and seedlings of kobus were irradiated with #gamma#-rays. In kalmia, two mutation lines were obtained which had narrowlong leaves. In kobus two mutation lines were obtained. One mutation line has flowers with 7 to 13 petals. Another mutation line has yellow-green variegated leaves. (author).

UK PubMed Central (United Kingdom)

Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied...Full Text Available

UK PubMed Central (United Kingdom)

Recessive mutations of the early phase change (epc) gene in maize affect several aspects of plant development. These mutations were identified initially because of...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundMany difficult problems in evolutionary genomics are related to mutations that have weak effects on fitness, as the consequences of mutations with large effects are often...Full Text Available

DEFF Research Database (Denmark)

Udgivelsesdato: 2006/8

Energy Technology Data Exchange (ETDEWEB)

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 ...

British Library Electronic Table of Contents (United Kingdom)

Antisense- or RNAi-mediated suppression of the biosynthesis of nutritionally inferior storage proteins is a promising strategy for improving the amino acid profile of seeds. However, the potential pleiotropic effects of this on interconnected pathways and the agronomic quality traits need to be addressed. In the current study, a transcriptomic analysis of an antisense C-hordein line of barley was performed, using a grain-specific cDNA array. The C-hordein antisense line is characterized by marked changes in storage protein and amino acid profiles, while the seed weight is within the normal range and no external morphological irregularities were observed. The results of the transcriptome analysis showed excellent correlation with data on changes in the relative proportions of storage protei...

UK PubMed Central (United Kingdom)

Barley (Hordeum vulgare L. cv Golden Promise) plants were grown in a continuous culture system in which the root and shoot ammonia and amino acid levels were constant over a 6-hour...Full Text Available

UK PubMed Central (United Kingdom)

In X-linked nephrogenic diabetes insipidus (NDI) the urine of male patients is not concentrated after the administration of the antidiuretic hormone arginine-vasopressin. This disease is due to mutations...Full Text Available

UK PubMed Central (United Kingdom)

A regional analysis of nucleotide substitution rates along human genes and their flanking regions allows us to quantify the effect of mutational mechanisms associated with transcription in germ line...Full Text Available

UK PubMed Central (United Kingdom)

PurposeTo report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).MethodsFull...Full Text Available

UK PubMed Central (United Kingdom)

PurposeTo investigate whether acquired somatic mutations in the iron response element of the ferritin L-chain gene account for the age-related cataract.MethodsThe...Full Text Available

UK PubMed Central (United Kingdom)

Activation-induced cytidine deaminase (AID) protein initiates Ig gene mutation by deaminating cytosines, converting them into uracils. Excision of AID-induced uracils by uracil-N-glycosylase...Full Text Available

UK PubMed Central (United Kingdom)

Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinate dehydrogenase...Full Text Available

UK PubMed Central (United Kingdom)

PurposeTo analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish patients.MethodsWe...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundSLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause...Full Text Available

UK PubMed Central (United Kingdom)

Frontotemporal lobar degeneration is a progressive neurodegenerative syndrome that is the second most common cause of early-onset dementia. Mutations in the progranulin gene are a major cause of familial...Full Text Available

Science.gov (United States)

... Loss of Heterozygosity in Normal Breast Epithelial Tissue and Benign Breast Lesions in BRCA1/2 Carriers with Breast Cancer. ...

UK PubMed Central (United Kingdom)

BackgroundGene mutation is an important mechanism of myeloid leukemogenesis. However, the number and combination of gene mutated in myeloid malignancies is still a matter of investigation.MethodsWe...Full Text Available

International Nuclear Information System (INIS)

Metal contaminated crops from contaminated soils are possible hazards for the food chain. The aim of this study was to find practical and cost-effective measures to reduce metal uptake in crops grown on metal contaminated soils near a former metal smelter in Austria. Metal-inefficient cultivars of crop plants commonly grown in the area were investigated in combination with in-situ soil amendments. A laboratory batch experiment using 15 potential amendments was used to select 5 amendments to treat contaminated soil in a pot study using two Barley (Hordeum vulgare L.) cultivars that differed in their ability to accumulate cadmium. Results from this experiment identified 3 of these amendments for use in a field trial. In the pot experiment a reduction in ammonium nitrate extractable Cd (<41%) and Pb (<49%) compared to the controls was measured, with a concurrent reduction of uptake into barley grain (Cd < 62%, Pb < 68%). In the field ...

International Nuclear Information System (INIS)

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 the second part ...

International Nuclear Information System (INIS)

The results are presented of a study in radioactivity of forage (grass, alfalfa, clover), cereals (wheat, oats, rye, barley) and different agriculture products (fodder beet, sugar beet, leguminous plants, poppy, tobacco, maize, potatoes). Total beta activity, "4"0K, "9"0Sr and "1"3"7Cs activities were studied for the period 1962 to 1975 in selected localities in Slovakia. The highest values of "9"0Sr and "1"3"7Cs were measured in 1963, the lowest levels of "9"0Sr in 1975 while the lowest levels of "1"3"7Cs in 1973. (B.S.).

Energy Technology Data Exchange (ETDEWEB)

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 ...

Science.gov (United States)

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 ...

British Library Electronic Table of Contents (United Kingdom)

The penetrance of Lebers hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (Pin vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with G11778A in these two pedigrees. Our results suggest that the variable penetrance of LHON in the two Chinese families is independent of both their mtDNA haplotype background and a seconda...

UK PubMed Central (United Kingdom)

Although the roots of Ras sprouted from the rich history of retrovirus research, it was the discovery of mutationally activated RAS genes in human cancer in 1982 that stimulated an...Full Text Available

International Nuclear Information System (INIS)

We describe the analysis of forward mutations induced in the tetracycline resistance gene of the plasmid pBR322 by directing the reaction of the carcinogen N-acetoxy-N-2-acetylaminofluorene (N-AcO-AAF) to a small restriction fragment (BamHI, SalI) that is located in the proximal part of the antibiotic-resistance gene. Mutant plasmids obtained both in wild type and excision repair deficient (uvrA) bacterial cells are compared. Preliminary data showing the distribution of the -AAF adducts along this restriction fragments are discussed in relation to the observed spectrum of mutations. 20 references, 4 figures.

UK PubMed Central (United Kingdom)

Many mutations associated with retinal degeneration lead to the production of misfolded proteins by cells of the retina. Emerging evidence suggests that these abnormal proteins cause cell death...Full Text Available

Science.gov (United States)

Objective:? Primary hyperparathyroidism (HPT) is characterised by autonomous secretion of PTH from enlarged parathyroid glands leading, in most patients, to asymptomatic hypercalcaemia. Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder caused by inactivating mutations in the calcium sensing receptor (CaSR) gene; it is characterised by lifelong and usually asymptomatic hypercalcaemia. Establishing the correct diagnosis is important because surgery can be curative in HPT, but ineffective in FHH. There is overlap in the diagnostic criteria for the two disorders and some patients carrying inactivating mutations in the CaSR gene, which is suggestive of FHH, also have HPT with hyperplastic parathyroid glands or adenomas. Design and Patients:? CaSR gene mutations were analyzed and clinical and biochemical parameters evaluated in 139 consecutive out-patients presenting with hypercalcaemia and suspected ...

UK PubMed Central (United Kingdom)

In animal models, single-gene mutations in genes involved in insulin/IGF and target of rapamycin signalling pathways extend lifespan to a considerable extent. The genetic, genomic and epigenetic influences...Full Text Available

International Nuclear Information System (INIS)

... 3-89701-147-6 0949-2224 245 p. animal cells dna genetic radiation effects

UK PubMed Central (United Kingdom)

Cis-acting regulatory sequences are required for the proper temporal and spatial control of gene expression. Variation in gene expression is highly heritable and a significant determinant...Full Text Available

Science.gov (United States)

What genes are related to AEC syndrome? AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an...

Energy Technology Data Exchange (ETDEWEB)

Specificity of the pulses mean frequency measurement (the pulses being generated in a stochastic process) is described. Status of the domain of analog frequency meters is presented. Methods of increasing accuracy of such meters are discussed.

Norwegian Open Research Archives (NORA)

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Science.gov (United States)

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UK PubMed Central (United Kingdom)

The Wnt signaling pathway is a robust regulator of skeletal homeostasis. Gain-of-function mutations promote high bone mass, whereas loss of Lrp5 or Lrp6 co-receptors decrease bone mass. Similarly, mutations...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

Laron syndrome (LS) is an autosomal recessively inherited condition characterized by insensitivity to endogenous and exogenous GH. Affected individuals have severe episodes and other characteristic features. GH receptor gene mutations are present in all affected individuals in whom molecular studies have been reported. The GH receptor is a plasma membrane-spanning protein in which the extracellular domain binds circulating GH and the intracellular domain interacts with the JAK-2 kinase and possibly other intracellular signaling molecules. GH receptor dimerization occurs on GH binding and is thought to be required for normal signal transduction. We have studied the GH receptor genes of four unrelated individuals affected with LS from the United States, Italy, Saudi Arabia, and India. We have identified four different missense mutations that alter consecutive amino acids 152 to 155 in or near the dimerization domain of the GH receptor. One of ...

International Nuclear Information System (INIS)

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 ...

International Nuclear Information System (INIS)

Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. Allele-specific hybridization with oligonucleotide probes demonstrated that this mutation was found exclusively in type 1 phenotype. None of the 6 type 2 patients, 11 type 3 patients, or 12 normal controls had this allele. In contrast, 15 of 24 type 1 patients had one allele with this mutation, and 3 others were homozygous for the mutation. Furthermore, some of the Ashkenazic Jewish type 1 patients had only one allele with ...

UK PubMed Central (United Kingdom)

PurposeTo describe clinical data and to characterize mutations in the transforming growth factor beta-induced (TGFBI) gene in patients from three unrelated Chilean...Full Text Available

UK PubMed Central (United Kingdom)

Nicotiana glutinosa compensated for a mutated tumor-morphology-shooty (tms) (auxin biosynthesis) locus of Agrobacterlum tumefaciens strain A66 and...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

Previous studies from this laboratory have shown that certain N-substituted phthalimides (NSPs) exhibit GA-like activity in a range of specific bioassays and that bioactive NSPs compete with ({sup 3}H)-GA{sub 4} for soluble binding sites in cucumber homogenates. As such, these compounds may prove useful in the purification and characterization of GA receptor proteins. To this end, five azido-NSPs have been synthesized and are currently being screened for biological activity and photochemical stability. Three azido-NSPs elicit {alpha}-amylase production in barley half-seeds and stimulate tissue elongation in d{sub 5} maize, lettuce, sunflower, and soybean. Further evaluations are in progress and these data as well as the utility of these compounds as photo-affinity ligands will be discussed.

International Nuclear Information System (INIS)

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate ...

British Library Electronic Table of Contents (United Kingdom)

In Europe, the use of anti-EGFR monoclonal antibodies is restricted to Kirsten RAS (KRAS) wild-type colorectal tumors. Information on the KRAS status of the patients tumor is thus key for clinical practice; however, there is little guidance or definition on which KRAS mutations to assess and how to assess them. To ensure the consistency and the quality of KRAS test results in Europe, an interlaboratory control network needs to be set up. This pilot study aimed to identify the variables that need to be assessed in a quality control scheme and to provide a first assessment in a selected set of laboratories. Fourteen different tumor cases were circulated between 13 laboratories by a central laboratory acting as the referent for the mutation status determination. This study illustrated that of...

British Library Electronic Table of Contents (United Kingdom)

Abstract Crouzon syndrome is characterized by premature fusion of sutures and synchondroses. Recently, the first mouse model of the syndrome was generated, having the mutation Cys342Tyr in Fgfr2c, equivalent to the most common human Crouzon/Pfeiffer syndrome mutation. In this study, a set of micro-computed tomography (CT) scannings of the skulls of wild-type mice and Crouzon mice were analysed with respect to the dysmorphology caused by Crouzon syndrome. A computational craniofacial atlas was built automatically from the set of wild-type mouse micro-CT volumes using (1) affine and (2) non-rigid image registration. Subsequently, the atlas was deformed to match each subject from the two groups of mice. The accuracy of these registrations was measured by a comparison of manually placed landma...

British Library Electronic Table of Contents (United Kingdom)

Abstract A miniaturized spatial temperature gradient CE system with automated sample introduction for DNA mutation detection was established. Continuous electrokinetic sample injection was achieved by combining an automated slotted vial array sample introduction device to the spatial temperature gradient CE system. The temperature gradient was produced by a radiative heating system with a single graphite block heater, and the stability of the temperature gradient was investigated. The temperature variation of each measure point was 0.12 0.21% RSD (n=7) within 6 h. A 14 cm Teflon AF coated silica capillary was used both as the separation channel and as the liquid core waveguide tube of fluorescence signal. Under a temperature gradient from 54.8 to 59.5 C, a low range control mutation standa...

DEFF Research Database (Denmark)

Antisense- or RNAi-mediated suppression of the biosynthesis of nutritionally inferior storage proteins is a promising strategy for improving the amino acid profile of seeds. However, the potential pleiotropic effects of this on interconnected pathways and the agronomic quality traits need to be addressed. In the current study, a transcriptomic analysis of an antisense C-hordein line of barley was performed, using a grain-specific cDNA array. The C-hordein antisense line is characterized by marked changes in storage protein and amino acid profiles, while the seed weight is within the normal range and no external morphological irregularities were observed. The results of the transcriptome analysis showed excellent correlation with data on changes in the relative proportions of storage proteins and amino acid composition. The antisense line had a lower C-hordein level and down-regulated transcript encoding C-hordein. The production of the S-rich B/ - and D-hordeins ...

UK PubMed Central (United Kingdom)

1. At high running speeds, the step frequency becomes lower than the apparent natural frequency of the body's bouncing system. This is due to a relative increase of the vertical component of the muscular...Full Text Available

UK PubMed Central (United Kingdom)

Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disease that is caused by defective complement regulation in over 50% of cases. Mutations have been identified in genes encoding both complement...Full Text Available

UK PubMed Central (United Kingdom)

Recessive inactivating mutations in human matrix metalloproteinase 2 (MMP2, gelatinase A) are associated with syndromes that include abnormal facial appearance, short stature, and severe bone...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundTransposons, i.e. transposable elements (TEs), are the major internal spontaneous mutation agents for the variability of eukaryotic genomes. To address the general issue...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundDuring the last ten years, major advances have been made in characterizing and understanding the evolution of mitochondrial DNA, the most popular marker of molecular biodiversity....Full Text Available

UK PubMed Central (United Kingdom)

Dominant mutations in sarcomere protein genes cause hypertrophic cardiomyopathy, an inherited human disorder with increased ventricular wall thickness, myocyte hypertrophy, and disarray. To understand...Full Text Available

UK PubMed Central (United Kingdom)

The p53 tumour suppressor plays a pivotal role in the prevention of oncogenic transformation. Cancers frequently evade the potent antitumour surveillance mechanisms of p53 through mutation of the TP53...Full Text Available

CERN Document Server

We consider a general, neutral, dynamical model of biodiversity. Individuals have i.i.d. lifetime durations, which are not necessarily exponentially distributed, and each individual gives birth independently at constant rate \\lambda. We assume that types are clonally inherited. We consider two classes of speciation models in this setting. In the immigration model, new individuals of an entirely new species singly enter the population at constant rate \\mu (e.g., from the mainland into the island). In the mutation model, each individual independently experiences point mutations in its germ line, at constant rate \\theta. We are interested in the species abundance distribution, i.e., in the numbers, denoted I_n(k) in the immigration model and A_n(k) in the mutation model, of species represented by k individuals, k=1,2,...,n, when there are n individuals in the total population. In the immigration model, we prove that the ...

UK PubMed Central (United Kingdom)

PurposeIt has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss...Full Text Available

UK PubMed Central (United Kingdom)

A positive, genetic selection against the activity of the nitrogen regulatory (NTR) system was used to isolate insertion mutations affecting nitrogen regulation in Klebsiella aerogenes. Two classes...Full Text Available

International Nuclear Information System (INIS)

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 ...

UK PubMed Central (United Kingdom)

With the advent of subgenomic hepatitis C virus (HCV) replicons, studies of the intracellular steps of the viral replication cycle became possible. These RNAs are capable of self-amplification in cultured...Full Text Available

UK PubMed Central (United Kingdom)

Mutation assay with Salmonella typhimurium enabled us to detect various types of mutagens in cooked foods. A series of mutagenic heterocyclic amines has been isolated and identified in broiled fish...Full Text Available

UK PubMed Central (United Kingdom)

Gastrointestinal stromal tumors (GIST) are thought to derive from the interstitial cells of Cajal (ICC) or an ICC precursor. Oncogenic mutations of the KIT or PDGFRA receptor tyrosine kinases are present...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundAmyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3–10% of patients....Full Text Available

UK PubMed Central (United Kingdom)

The genomic viral RNA (vRNA) segments of influenza A virus contain specific packaging signals at their termini that overlap the coding regions. To further characterize cis-acting signals...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundMitochondrial dysfunction, oxidative damage and the accumulation of somatic mutations in mitochondrial DNA (mtDNA) have been associated with certain neurodegenerative disorders....Full Text Available

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Mutations in SPTBN2, the gene encoding β-III spectrin, cause spinocerebellar ataxia type 5 in humans (SCA5), a neurodegenerative disorder resulting in loss of motor...Full Text Available

UK PubMed Central (United Kingdom)

A method has been developed to predict the effects of mutations in the p53 cancer suppressor gene. The new method uses novel parameters combined with previously established parameters. The most important...Full Text Available

UK PubMed Central (United Kingdom)

One selection pressure shaping sequence evolution is the requirement that a protein fold with sufficient stability to perform its biological functions. We present...Full Text Available

UK PubMed Central (United Kingdom)

A mutation in a new gene, molR, prevented the synthesis in Escherichia coli of molybdoenzymes, including the two formate dehydrogenase isoenzymes, nitrate reductase and trimethylamine-N-oxide reductase....Full Text Available

UK PubMed Central (United Kingdom)

BackgroundAnimals carrying genetic mutations have provided powerful insights into the role of interstitial cells of Cajal (ICC) in motility. One classic model is...Full Text Available

UK PubMed Central (United Kingdom)

The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes...Full Text Available

UK PubMed Central (United Kingdom)

Neurofibromatosis type 1 (NF1) results from mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin. NF1 patients display diverse clinical manifestations,...Full Text Available

UK PubMed Central (United Kingdom)

Human blinding disorders are often initiated by hereditary mutations that insult rod and/or cone photoreceptors and cause subsequent cellular death. Generally, the disease phenotype can be predicted...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundRecessive mutations in guanylate cyclase-1 (Gucy2d) are associated with severe, early onset Leber congenital amaurosis-1(LCA1). Gucy2d...Full Text Available

UK PubMed Central (United Kingdom)

The incidence of melanoma is increasing more than any other cancer, and knowledge of its genetic alterations is limited. To systematically analyze such alterations, we performed whole-exome...Full Text Available

UK PubMed Central (United Kingdom)

Glioblastoma, the most common malignant brain tumor, is among the most lethal and difficult cancers to treat. Although epidermal growth factor receptor (EGFR) mutations are frequent in glioblastoma,...Full Text Available

UK PubMed Central (United Kingdom)

While pleiotropic adaptive mutations are thought to be central for evolution, little is known on the downstream molecular effects allowing adaptation to complex ecologically relevant environments. Here...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

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UK PubMed Central (United Kingdom)

BACKGROUND: H2-histamine receptors mediate a wide range of physiological functions extending from stimulation of gastric acid secretion to induction of human promyelocyte differentiation. We have previously...Full Text Available

Science.gov (United States)

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 ...

UK PubMed Central (United Kingdom)

Oculo-skeletal dysplasia segregates in two canine breeds, the Labrador retriever and samoyed, in which the causative loci have been termed drd1 and drd2, respectively....Full Text Available

UK PubMed Central (United Kingdom)

BackgroundMutations of the amyloid precursor protein gene (APP) are found in familial forms of Alzheimer's disease (AD) and some lead to the elevated production...Full Text Available

UK PubMed Central (United Kingdom)

Most colorectal cancers have mutations in the tumor suppressor APC. The best-understood function of APC is its participation in a protein complex that regulates the availability of β-catenin....Full Text Available

UK PubMed Central (United Kingdom)

Cancers are highly heterogeneous and contain many passenger and driver mutations. To functionally identify tumor suppressor genes relevant to human cancer, we compiled pools of short harpin...Full Text Available

UK PubMed Central (United Kingdom)

The tumor suppressor adenomatous polyposis coli (APC) is mutated in the majority of colorectal cancers and is best known for its role as a scaffold in a Wnt-regulated protein complex that determines...Full Text Available

UK PubMed Central (United Kingdom)

PurposeTo detail the highly variable ocular phenotypes of a French family affected with an autosomal dominantly inherited vitreoretinopathy and to identify the disease gene.MethodsSixteen...Full Text Available

UK PubMed Central (United Kingdom)

ObjectiveThe goal of the study was to investigate the genetic and molecular basis of a novel syndrome of marked hyperglucagonemia and pancreatic α cell hyperplasia...Full Text Available

UK PubMed Central (United Kingdom)

Large-scale cancer genome projects will soon be able to sequence many cancer genomes to comprehensively identify genetic changes in human cancer. Genome-wide association studies have also identified...Full Text Available

UK PubMed Central (United Kingdom)

Although many studies have examined the performance of animals in detecting a frequency change in a sequence of tones, few have measured animals' discrimination of the fundamental frequency...Full Text Available

International Nuclear Information System (INIS)

Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects. CS cells are hypersensitive to killing by ultraviolet (UV)-irradiation and defective in transcription-coupled repair. Two genetic complementation groups in CS (CS-A and CS-B) have been identified. We analyzed mutations of the CSA gene in 5 CS-A patients and identified 3 types of mutations. Four unrelated CS-A patients (CS2OS, CS2AW, Nps2 and CS2SE) had a deletion including exon 4, suggesting that there is a founder effect on the CSA mutation in Japanese CS-A patients. Patient CS2SE was a compound heterozygote for this deletion and an amino acid substitution at the 106th glutamine to proline (Q106P) in the WD-40 repeat motif of the CSA protein, which resulted in a defective nucleotide excision repair. Patient Mps1 had a large deletion in the ...

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Energy Technology Data Exchange (ETDEWEB)

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Vibrational dephasing in condensed phases is studied from both a theoretical and experimental standpoint. A theory is presented which describes the dynamics of motional or exchange processes in weakly perturbed systems. This general formalism, which has been previously used to describe motional narrowing in magnetic resonance, is applied to vibrational spectroscopy. The model treats the case of a high frequency vibration anharmonically coupled to a low-frequency vibration. Intermolecular exchange of low frequency vibrational quanta results in a temperature dependent broadening and frequency shift of the high frequency vibration. Analysis of experimental data by this model yields both the exchange rates and the anharmonic couplings.

Science.gov (United States)

With the advent of subgenomic hepatitis C virus (HCV) replicons, studies of the intracellular steps of the viral replication cycle became possible. These RNAs are capable of self-amplification in cultured human hepatoma cells, but save for the genotype 2a isolate JFH-1, efficient replication of these HCV RNAs requires replication enhancing mutations (REMs), previously also called cell culture adaptive mutations. These mutations cluster primarily in the central region of non-structural protein 5A (NS5A), but may also reside in the NS3 helicase domain or at a distinct position in NS4B. Most efficient replication has been achieved by combining REMs residing in NS3 with distinct REMs located in NS4B or NS5A. However, in spite of efficient replication of HCV genomes containing such mutations, they do not support production of infectious virus particles. By using the genotype 1b isolate Con1, in this study we ...

International Nuclear Information System (INIS)

The Moderator Temperature Coefficient of reactivity (MTC) was earlier proven to be properly determined via noise analysis when the neutron noise is measured locally and when the radial average of the moderator temperature noise is used. Nevertheless, measurements revealed that the MTC was correctly estimated on a much narrower frequency band (0.6 - 0.7 Hz) than expected (0.1 - 1.0 Hz). The present paper investigates the effect of the feedback on the MTC determination using this new MTC noise estimator (which could explain the deviation at low frequencies, i.e. between 0.1 - 0.5 Hz) and the effect of the detector time constants (which could explain the deviation at high frequencies, i.e. between 0.7 - 1.0 Hz). For that purpose, a coupled neutronic/thermalhydraulic model of the Ringhals-3 PWR is developed in the frequency-domain, based on a radial 2-dimensional heterogeneous representation of the core. ...

British Library Electronic Table of Contents (United Kingdom)

Abstract Background & aims: Hepatitis B or C virus infection is considered to be the main cause of hepatocellular carcinoma (HCC) in Japan. Aflatoxin B1 (AFB1) is a carcinogen associated with HCC in regions with high exposure. Mutations in codon 249, exon 7 are a hallmark of AFB1 exposure. Therefore, to clarify the role of AFB1 in hepatocarcinogenesis, we examined AFB1-DNA in liver tissue and sequenced TP53 in Japanese patients with HCC. Methods: Hepatocyte AFB1-DNA adducts were determined immunohistochemically and direct sequencing of TP53 was done to determine mutations in 188 of 279 patients who underwent hepatic resection for HCC. We assessed hepatitis C virus antibodies (HCV Ab) and HBSAg expression; patients without either were defined as having non-B non-C hepatocellular carcinoma (...

CERN Document Server

In this paper, we report high-precision absolute distance and vibration measurements performed simultaneously with frequency scanned interferometry using a pair of single mode optical fibers. Absolute distance was determined by counting the interference fringes produced while scanning the laser frequency. A high-finesse Fabry-Perot interferometer(F-P) was used to determine frequency changes during scanning. Two multi-distance-measurement analysis techniques were developed to improve distance precision and to extract the amplitude and frequency of vibrations. Under laboratory conditions, a precision of 40 nm was demonstrated for an absolute distance of approximately 0.45 meters using the first analysis technique. The second analysis technique has capability to measure vibration frequencies ranging from 0.1 Hz to 100 Hz with minimal amplitude on few nanometers order without a priori ...

Science.gov (United States)

IntroductionBreast cancer is the most diagnosed and second leading cause of cancer deaths in the U.S. female population. An estimated 5 to 10 percent of all breast cancers are inherited, caused by mutations in the breast cancer susceptibility genes (BRCA1/2). As many as 90% of all mutations are nonsense mutations, causing a truncated polypeptide product. A popular and low cost method of mutation detection has been the protein truncation test (PTT), where target regions of BRCA1/2 are PCR amplified, transcribed/translated in a cell-free protein synthesis system and analyzed for truncated polypeptides by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and autoradiography. We previously reported a novel High Throughput Solid-Phase PTT (HTS-PTT) based on an enzyme-linked immunosorbent assay (ELISA) format that eliminates the need for radioactivity, SDS-PAGE and subjective interpretation ...

Energy Technology Data Exchange (ETDEWEB)

November 1989, marked the beginning of a new three-year cycle of DOE grant support, in connection with which the program underwent a major reorganization. This document presents the progress on the three objectives of the present program which are: to isolate by the technique of two-dimensional polyacrylamide gel electrophoresis (2-D PAGE), proteins of special interest because of the relative mutability of the corresponding gene, establish the identity of the protein, and, for selected proteins, move to a characterization of the corresponding gene; to develop a more efficient approach, based on 2-D PAGE, for the detection of variants in DNA, with special reference to the identification of mutations in the parents of the individual whose DNA is being examined; and, to continue an effective interface with the genetic studies on the children of atomic bomb survivors in Japan, with reference to both the planning and implementation of new studies at the molecular level.

International Nuclear Information System (INIS)

Each of the three cysteine residues in the Escherichia coli RecA protein was replaced with a number of other amino acids. To do this, each cysteine codon was first converted to a chain-terminating amber codon by oligonucleotide-directed mutagenesis. These amber mutants were then either assayed for function in different suppressor strains or reverted by a second round of mutagenesis with oligonucleotides that had random sequences at the amber codon. Thirty-three different amino acid substitutions were obtained. Mutants were tested for three functions of RecA: survival following UV irradiation, homologous recombination, and induction of the SOS response. It was found that although none of the cysteines is essential for activity, mutations at each of these positions can affect one or more of the activities of RecA, depending on the particular amino acid substitution. In addition, the cysteine at position 116 appears to be involved in the RecA-promoted cleavage of the ...

International Nuclear Information System (INIS)

Soybean is one of the most economical and nutritious food packed with basic nutrients that combat diseases stemming from mal- and under-nutrition. Despite its rich nutritional profile, use of soybean in food has been limited because soybean proteins are often associated with compounds, which could exert a negative impact on the nutritional quality of the protein. Trypsin inhibitor (TI) is one of the important anti-nutritional factors that exert negative effect by causing growth inhibition. Soybean cultivar VLS-2 was irradiated with 250 Gy gamma rays in a gamma cell (200) with 60Co source installed at BARC to induce mutations for low trypsin inhibitor content. Three mutants with lower levels of TI content were identified and can be utilized for developing elite varieties of soybean. (author)

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Background The purpose of this study was (a) to evaluate the association between cigarette smoking and the prevalence of distal colorectal polyps and adenocarcinoma and (b) to analyse genetic alterations representing different molecular pathways of the colorectal carcinogenesis. Methods A total of 623 asymptomatic male (mean age: 53 years; 50?65) car factory workers were included. Information on smoking habits and other lifestyle factors were collected followed by a 60 cm colonoscopy. APC and KRAS mutations and microsatellite status were determined in colorectal lesions (colorectal carcinoma (CRC), hyperplastic (HP) and adenomatous polyps (AP)). Data were analysed using unconditional multiple logistic regression models. Results Smokers had a higher prevalence of AP (OR 2.1; 95% CI 1.2?3.6;...

UK PubMed Central (United Kingdom)

Dopaminergic (DA) neurons of the mammalian midbrain exhibit unusually low firing frequencies in vitro. Furthermore, injection of depolarizing current induces depolarization block before high...Full Text Available

UK PubMed Central (United Kingdom)

Some laboratory experiments have suggested that power-frequency electric and magnetic fields (EMF) may be capable of influencing calcium efflux from cell membranes, pineal function, and circadian rhythms....Full Text Available

Science.gov (United States)

Page 1. Mt N Local Spatial Frequency Analysis N for Computer Vision N John Krumm and Steven A. Shafer CMU-RI-TR-90-1 1 JUNO0 8 199 0 ...

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... Figure 3 shows on-orbit (ie, vacuum) frequency aging rates for Milstar rubidium (Rb) clocks, GPS Block IIR Rb clocks, and GPS Block IIA Rb clocks. ...

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At-site and regional frequency analyses of annual maximum 1-, 2-, and 3-days rainfall in Han River basin was performed and compared based on the regional L-moments algorithm. To perform regional frequency analysis, Han River basin was subdivided into 3 sub-basins such as South Han River, North Han River, and downstream regions. For each sub-basin, the discordancy and homogeneity tests were performed. As the results of goodness of fit tests, lognormal model was selected as an appropriate probability distribution for both South Han River and downstream regions and gamma-3 model for North Han River region. From Monte Carlo simulation, RBIAS and RRMSE of the estimated quantiles from regional frequency analysis and at-site frequency analysis were calculated and compared each other. Regional frequency analysis shows less RRMSE of the estimated quantiles than at-sites ...

Science.gov (United States)

A numerical technique is developed for estimating water quality violation frequencies due to pollutant discharges from urban areas during combined sewer overflow events. The first four moments of in-stream pollutant concentration are found by integrating a pollutant loading - wat...

International Nuclear Information System (INIS)

On the problem of alarm when parts are falling in nuclear power plant, the artificial neural network (ANN) alarm method based on the signal time-frequency characteristics was developed. The method was realized by the improved BP algorithm, and demonstrated with the data from simulation experiments

Science.gov (United States)

... The relatively large, low frequency multi-axis motions observed at the chest may be a contributor to discomfort in locomotive engineers. ...

CERN Document Server

This paper presents a model of the dynamics of the wage income distribution.

British Library Electronic Table of Contents (United Kingdom)

We have explored vibrations of a single-degree of freedom oscillator with a magneto-rheological damper subjected to kinematic excitations in a high frequency limit. Using fast and slow scales decoupling procedure we derived an effective damping coefficient in the limit of high frequency excitation. Damping characteristics, as functions of velocity, change considerably especially by terminating the singular non-smoothness points. This effect was more transparent for a larger control parameter which was defined as the product of the excitation amplitude and its frequency.

Science.gov (United States)

... Tactical Electronic Warfare Division (Code 5700) Visualization Laboratory Transportable step frequency radar Vehicle development laboratory ...

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The lateral natural frequency and vibration response analyses of the Large Scale Breeder Reactor (LSBR) primary pump were performed as part of the total dynamic analysis effort to obtain the fabrication release. The special features of pump modeling are outlined in this paper. The analysis clearly demonstrates the method of increasing the system natural frequency by reducing the generalized mass without significantly changing the generalized stiffness of the structure. Also, a method of computing the maximum relative and absolute steady state responses and associated phase angles at given locations is provided. This type of information is very helpful in generating response versus frequency and phase angle versus frequency plots.

Energy Technology Data Exchange (ETDEWEB)

Power supply ripple at frequencies of 720 Hz and its harmonies is expected to affect the motion of particles in the collider. These ripple frequencies are nearly resonant with the betatron frequencies. To estimate the tolerable ripple levels, we have tracked particles through the complete nonlinear lattice for 10[sup 4] turns with ripple fed from 10 different power stations and including up to 7 different ripple frequencies. We presently estimate that relative ripple amplitudes must be below the 10[sup 8] level for there to be no significant impact on the emittance over the short term.

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Cyclic strength of #alpha#+#beta#-titanium alloy BT3-1 is studied under load frequencies of 33 and 300 Hz. The increase in the cyclic strength with growing frequency is caused by formation of FCC interphase layers of titanium hydrides. Their formation is one of possible ways of raising the fatigue strength of titanium alloys. Peculiarities of FCC interlayer formation in #alpha#+#beta# phases under loading frequency variation are revealed.

International Nuclear Information System (INIS)

The high-frequency precessional mode of a hot-electron-stabilized magnetic configuration has previously been shown to be stable in a window of core-plasma mass. Under conditions of frequency matching, the resulting stable negative-energy precessional wave can be destabilized by coupling to positive-energy shear-Alfven waves. Coupling is avoided when the hot-electron precession frequency exceeds the core-plasma ion gyrofrequency.

UK PubMed Central (United Kingdom)

The rates of synthesis of a class of both secreted and intracellular degradative enzymes in Bacillus subtilis are controlled by a signal transduction pathway defined by at least four regulatory genes:...Full Text Available

Science.gov (United States)

A series of radioactive catastrophes (from 1948 to 1967) in the Southern Urals in the USSR led to intensive environmental contamination. Radioactive wastes were dispersed over the 20000 km(2) territory of four provinces-Chelyabinsk, Sverdlovsk, Tyumen' and Kurgan-due to the activity of the military facility that was built in 1948 for the production of nuclear bomb plutonium. The results of 50 years of investigations into the consequences of these disasters allow a general picture of the events that occurred to be reconstructed and allow the medical consequences of the irradiation of about half a million residents to be depicted. However, due to the atmosphere of secrecy and inadequate medical procedures, the results of medical studies of radiation victims are scant. The current protocols present a unique opportunity to study the DNA damage at the nucleotide resolution level in the genome of inhabitants of the given region, who presumably received chronic doses of irradiation. Studies ...

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This overview of research conducted at ORNL in 1991 presents information on the subjects of biology, physics, and the environment. Specific topics include gene mutations in kidney disease, technology assessments in thermonuclear fusion, submarine hunting technology, ozone-safe refrigerants, optical data storage via surface enhanced raman spectroscopy, and waste mitigating microbes. (GHH)

UK PubMed Central (United Kingdom)

Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm, and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant...Full Text Available

UK PubMed Central (United Kingdom)

The positive control function of the bacterial enhancer-binding protein NtrC resides in its central domain, which is highly conserved among activators of ς⁵⁴ holoenzyme. Previous...Full Text Available

UK PubMed Central (United Kingdom)

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

International Nuclear Information System (INIS)

Epidemiological studies will not solve the shape of the dose effect curve for stochastic effects in the low dose range. Unicellular processes are necessary for the primary processes so that no threshold dose exists. This is evident for somatic and genetic mutations. Not clearly solved is this question for the complex carcinogenesis. These processes develop with manifold interacting molecular and cellular steps. (orig.).

International Nuclear Information System (INIS)

Spontaneous mutation has been discovered and utilized in domestication of narrow-leafed lupin (Lupinus angustifolius L.). As the result of the domestication, lupin has become a dominant grain legume crop in Western Australia. Facing the new challenge of developing herbicide tolerance cultivars, chemical mutagenesis has been used to create new tolerance to herbicide. This paper reports the characterization of two lupin mutants (Tanjil-AZ-33 and Tanjil-AZ-55) that are highly tolerant to metribuzin herbicide. A dose response study over 8 doses revealed that Tanjil-AZ-33 was 6 times more tolerant to metribuzin than the original parental cultivar Tanjil by measure of LD50. This mutant Tanjil-AZ-33 is the most tolerant germplasm in narrow-leafed lupin. Both mutants also maintain the high resistance to the disease anthracnose as cv Tanjil. Seed yield based on small field plots (3.6 m"2) under irrigation was 4.2 t/ha for Tanjil-AZ-33 and 1.9 t/ha for Tanjil when the ...

International Nuclear Information System (INIS)

Mutation breeding in one of the cultigens TMV-5 in Sesamum is undertaken with 5 kr, 10 kr, 15 kr, 20 kr, 60 kr and 80 kr, dosages of gamma-rays. 60 kr and 80 kr dosages were found to be lethal from the complete failure of seed germination. The mutagen had a heterotic effect on the different characters and the promising variants obtained in this programme are proposed to be maintained by pureline breeding for their possible release as new varieties. (author).

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The possible genetic (dominant lethal mutations (DLM) and cytogenetic changes in the regenerating liver) and somatic (hematopoietic stem cell changes, growth and nonspecific life time shortening) effects in mice maintained on tritiated water (HTO) over two generations was investigated. Results to date are summarized. (ACR)

UK PubMed Central (United Kingdom)

APP is a transmembrane precursor of beta-amyloid. In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695. Here we show that...Full Text Available

International Nuclear Information System (INIS)

Tow experiments were carried out in 1981 and 1982 growth seasons at the greenhouse of the department of agriculture for soils and water researches, atomic energy authority, at inshas, to investigate the responses of two mutation derived lines of sesame and the local cultivar giza 25 to the application of micro nutrients. The possible effect of radiation on germination and growth of sesame seed was also studied in a separate experiment conducted in 1985 season, at inshas.

International Nuclear Information System (INIS)

Mutations in transcription factors hepatocyte nuclear factors (HNF)-1#alpha# and HNF-1#beta# cause maturity-onset diabetes of the young (MODY) types 3 and 5, respectively. HNF-1#alpha# and HNF-1#beta# mutations are well studied in some tissues, but the mechanism by which HNF-1#alpha# and HNF-1#beta# mutations affect sucrase-isomaltase (SI) transcription in the small intestine is unclear. We studied the effects of 13 HNF-1#alpha# mutants and 2 HNF-1#beta# mutants on human SI gene transcription, which were identified in subjects with MODY3 and MODY5, respectively. Transactivation activity of 11 HNF-1#alpha# and 2 HNF-1#beta# mutants was significantly lower than that of wild (wt)-HNF-1#alpha# and wt-HNF-1#beta#. Furthermore, in co-expression studies with mutant (mu)-HNF-1#alpha#/ wt-HNF-1#beta# and wt-HNF-1#alpha#/mu-HNF-1#beta#, the combination of mu-HNF-1#alpha# (P379fsdelCT and T539fsdelC)/wt-HNF-1#beta# impaired SI ...

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

BackgroundATRX is a tightly-regulated multifunctional protein with crucial roles in mammalian development. Mutations in the ATRX gene cause ATR-X syndrome, an X-linked...Full Text Available

British Library Electronic Table of Contents (United Kingdom)

The generalized demodulation time-frequency analysis is a novel signal processing method, which is particularly suitable for the processing of multi-component amplitude-modulated and frequency-modulated (AM-FM) signals as it can decompose a multi-component signal into a set of single-component signals whose instantaneous frequencies own physical meaning. While fault occurs in gear, the vibration signals measured from gearbox would exactly display AM-FM characteristics. Therefore, targeting the modulation feature of gear vibration signal in run-ups and run-downs, a fault diagnosis method in which generalized demodulation time-frequency analysis and envelope order spectrum technique are combined is put forward and applied to the transient analysis of gear vibration signal. Firstly the multi-...

CERN Document Server

Acoustic metamaterials with negative effective mass below a cut-off frequency are studied. An equivalent mass-spring structure is firstly proposed for such metamaterials, the effective mass is found to follow the Drude model: being negative below a specific frequency. The peculiar behavior is then verified by transmission experiments operating in the low-frequency regime. Inspired by the mass-spring model, we investigate the two-dimensional elastic waveguide with clamped boundaries and attribute the bandgap occurring below a critical frequency to negative effective mass density. The finding helps us to design a new acoustic Drude metamaterial, which enables shearing and bending deformations, in contrast to the membrane-type ones. Both simulation and experimental results show that the proposed metamaterial exhibits negative effective mass below 1200 Hz, thus opening broadband applications in vibration ...

Energy Technology Data Exchange (ETDEWEB)

The aim of this research project, funded jointly by SILMU and by the Agricultural Research Centre of Finland, was to evaluate the possible effects of changes in climate and carbon dioxide concentration on the growth, development and yield of field crops and on crop pests and diseases in Finland. The study focused on two cereal crops (spring wheat and spring barley), a grass species (meadow fescue), some common pathogens of cereals and potato, insect pests of small fruits and nematode risk of potato and sugar beet. The results of this study indicate the following effects on crop production of the `best guess` climate change anticipated for Finland by 2050: A lengthening of the potential growing season of 3-5 weeks. A northward expansion of about 250-500 km in suitability for cereal production. Increased yields of adapted spring cereals. New, longer-season cultivars would benefit from both higher temperatures and elevated CO{sub 2}. Improved potential for the ...

International Nuclear Information System (INIS)

The disposal of municipal solid waste in an environmentally sound manner is a major problem worldwide. The composting of the organic fraction of refuse transforms it into soil amendment that can be recycled on agricultural lands. In order to promote the use of compost among farmers, agronomic investigations have to evaluate the impact of its use on soil properties and plant growth. In a greenhouse experiment, a sample of locally produced compost was applied to a sandy clay soil at rates equivalent to 0, 25, 50, 100, and 200 t/ha with supplemental addition of NH_4 NO_3 at levels equivalent to 0, 25, 50 and 100 Kg N/ha. Barley (Hordium vulgare L.) and corn (Zea mays L. indentata) were grown as indicator crops and soil properties were determined over a period of 150 days. Plant growth was affected by N starvation until the compost was stabilized in the soil. Nitrogen starvation persisted for a longer period with increasing applications of compost. Supplemental ...

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This work was initiated to examine the effect of frequency and treatment temperature on the formation of nitrided layers and surface characteristics during plasma nitriding. Plasma nitriding experiments were performed with 316L austenitic stainless steel at the temperatures 400 .deg. C and 500 deg. C using a pulsed d.c. plasma with various frequencies in an atmosphere of N{sub 2}-H{sub 2} gas mixture. The microstructure and thickness of the nitrided layer and morphology of the nitrided surface were investigated using OM, SEM, XRD, EDS and AFM. XRD patterns revealed that the surface layer formed at 400 deg. C consisted of S phase only and CrN+Fe{sub 4}N nitrides at 500 .deg. C and no change of phase composition with frequency was observed. The compound layer thickened slightly with increased frequency. Also, the surface roughness increased as the frequency of the pulsed plasma ...

International Nuclear Information System (INIS)

Electrostatic wave measurements from the Active Magnetospheric Particle Tracer Explorer Ion Release Module have been used to investigate the wave modes and their possible generation mechanisms in the Earth's bow shock and magnetosheath. It is demonstrated that electrostatic waves are present in the bow shock and magnetosheath with frequencies above the maximum frequency for Doppler-shifted ion acoustic waves, yet below the plasma frequency. Waves in this frequency range are tentatively identified as electron beam mode waves. Data from 45 bow shock crossings are then used to investigate possible correlations between the electrostatic wave properties and the near-shock plasma parameters. The most significant relationships found are anticorrelations with Alfven Mach number and electron beta. Mechanisms which might produce electron beams in the shock and magnetosheath are discussed in terms of the ...

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Bluestein's Fast Fourier Transform (FFT), commonly called the Chirp-Z Transform (CZT), is a little-known algorithm that offers engineers a high-resolution FFT combined with the ability to specify bandwidth. In the field of digital signal processing, engineers are always challenged to detect tones, frequencies, signatures, or some telltale sign that signifies a condition that must be indicated, ignored, or controlled. One of these challenges is to detect specific frequencies, for instance when looking for tones from telephones or detecting 60-Hz noise on power lines. The Goertzel algorithm described in Embedded Systems Programming, September 2002, offered a powerful tool toward finding specific frequencies faster than the FFT.Another challenge involves analyzing a range of frequencies, such as recording frequency response measurements, matching voice patterns, or displaying ...

Energy Technology Data Exchange (ETDEWEB)

A calculation is presented of spontaneous radiation emitted by an electron beam passing through a continuously rotating quadrupole magnetic undulator. It is shown that radiation spectrum emitted in forward direction of beam propagation has four peaks, corresponding to four betatron frequencies. Utilizing the Madey theorem, a stimulated emission is calculated and presented as gain versus frequency curves, for different values of the quadrupole magnetic field. A free-electron laser operating at two or three radiation frequencies with a quadrupole magnetic wiggler is suggested.

International Nuclear Information System (INIS)

Local-density-approximation calculations of the H-point phonon frequency of molybdenum were carried out using a new superlinearized augmented-plane-wave basis. The calculated frequency is in quite good agreement with experiment. This indicates that the effect of the many-body renormalization of the electronic states near the Fermi energy on this frequency is smaller than previously suggested. The superlinearized basis and its use to circumvent computational difficulties associated with extended semicore states such as the 4p state of molybdenum is described.

British Library Electronic Table of Contents (United Kingdom)

Abstract SLC9A9 (solute carrier family 9, member 9, also known as Na+/H+ exchanger member (NHE9)) is a membrane protein that regulates the luminal pH of the recycling endosome, an essential organelle for synaptic transmission and plasticity. SLC9A9 has been implicated in human attention deficit hyperactivity disorder (ADHD) and in rat studies of hyperactivity. We examined the SLC9A9 gene sequence and expression profile in prefrontal cortex, dorsal striatum and hippocampus in two genetic rat models of ADHD. We report two mutations in a rat model of inattentive ADHD, the WKY/NCrl rat, which affect the interaction of SLC9A9 with calcineurin homologous protein (CHP). We observed an age-dependent abnormal expression of SLC9A9 in brains of this inattentive model and in the Spontaneous Hypertensi...

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Dye-sensitized nanocrystalline TiO{sub 2} solar cells are currently under development. Since these cells contain an electrolyte solution we reviewed the health and safety aspects in view of indoor applications, where personal contact cannot be excluded. Only small amounts of chemicals are present in each cell and so there is no danger of acute toxicity. However, long-term effects often can be caused by incidental contact with minute amounts. For this reason we have tested cis-di(thiocyanato)-bis(4,4'-dicarboxy-2,2'-bipyridine)Ru(II), the sensitizer dye in the Ames test. The dye was not mutagenic in the Salmonella typhimurium reverse mutation assay and in the Escherichia coli reverse mutation assay.

International Nuclear Information System (INIS)

Protocols were standardized for in vitro propagation of several elite and diverse banana accessions using shoot tip explants. Tissue culture raised plants were field planted at multiple locations. Studies were undertaken for the induction of mutations using multiple shoot cultures of six selected cultivars, Shreemanti (AAA), Basrai (AAA), Lal Kela (AAA), Rasthali (AAB), Karibale Monthan (ABB) and a wild diploid (BB). These shoot cultures were irradiated at different doses of gamma rays (0-100 Gy) and subcultured thrice (up to M_1V_3) to separate shimeras, followed by induction of rooting (M_1V_4). In general, the rate of multiplication had a negative association with the dose of gamma rays. Enhanced multiplication of shoots was noticed at lower doses. The proliferation of shoots was arrested beyond 50 Gy and a dose of 70 Gy was completely lethal for all the genotypes studied. The rooted plantlets were hardened in the green house and in the early stages of field ...

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The heterokaryotic and vegetative diploid phases of Magnaporthe grisea, a fungal pathogen of grasses, have been characterized. Hyphal tip cells and conidia (vegetative spores) taken from these heterokaryons are auxotrophs with phenotypes identical to one or the other of the parents. M. grisea heterokaryons have completely septate hyphae with a single nucleus per cell. Heterokaryons have been utilized for complementation and dominance testing of mutations that affect nutritional characteristics of the fungus. Heterokaryons growing on minimal medium spontaneously give rise to fast-growing sectors that have the genetic properties expected of unstable heterozygous diploids. In fast-growing sectors, most hyphal tip cells are unstable prototrophs. The conidia collected from fast-growing sectors include stable and unstable prototrophs, as well as auxotrophs that exhibit a wide range of phenotypes, including many recombinant classes. Genetic linkage in meiosis has been ...

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The E6 oncoproteins of high-risk human papillomaviruses provide important functions not only for malignant transformation but also in the productive viral life cycle. E6 proteins have been shown to bind to a number of cellular factors, but only a limited number of analyses have investigated the effects of these interactions on the viral life cycle. In this study, we investigated the consequences of HPV 31 E6 binding to E6TP1, a putative Rap1 GAP protein. HPV 16 E6 has been shown to bind as well as induce the rapid turnover of E6TP1, and similar effects were observed with HPV 31 E6. Mutation of amino acid 128 in HPV 31 E6 was found to abrogate the ability to bind and degrade E6TP1 but did not alter binding to another ?-helical domain protein, E6AP. When HPV 31 genomes containing mutations a...

UK PubMed Central (United Kingdom)

In a double blind test on 40 men and women high performance fencers the influence of a multivitamin-electrolyte-preparation on reaction time, hit-frequency and neuromuscular irritability was determined....Full Text Available

UK PubMed Central (United Kingdom)

BackgroundUse of Traditional Chinese medicine (TCM), an important category of complementary and alternative medicine (CAM), has increased substantially in Western countries during...Full Text Available

International Nuclear Information System (INIS)

The problem of fast wave plasma heating in reactor-torsatron at the ICRF range in scenarios, optimal for fusion reactor, is numerically studied.

International Nuclear Information System (INIS)

Portuguese 2010 p. 137-138 Brazil Preto, Monica S. de Moura Tavares,

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A device made of amorphous silicon which exhibits inductive properties at certain voltage biases and in certain frequency ranges in described. Devices of the type described can be made in integrated circuit form.

UK PubMed Central (United Kingdom)

A survey was carried out in a steel foundry in Brisbane to evaluate the nature and frequency of respiratory symptoms and to assess ventilatory function. The foundry used many moulding processes including...Full Text Available

UK PubMed Central (United Kingdom)

Recent evidence indicates that the evolution of ultrasonic hearing in echolocating bats and cetaceans has involved adaptive amino acid replacements in the cochlear gene prestin. A substantial...Full Text Available

Science.gov (United States)

indicated for the phase spectral density measurements; how- ever, Ref. 7 provides a very tentative estimate of : ORW ~ 2 ><10"'(RW); Ta = 1000 seconds ...

International Nuclear Information System (INIS)

2006 p. 43 Ukraine Beletskii, AA Grigor'eva, LI Sorokovoy, EL Chechkin, VV

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This report contains information about the effect of frequency on the breakdown voltage of an air gap at standard pressure and temperature, 76 mm Hg and O{degrees}C, respectively. The frequencies of interest are 47 MHz and 60 MHz. Additionally, the breakdown in vacuum is briefly considered. The breakdown mechanism is explained on the basis of collision and ionization. The presence of the positive ions produced by ionization enhances the field in the gap, and thus determines the breakdown. When a low-frequency voltage is applied across the gap, the breakdown mechanism is the same as that caused by the DC or static voltage. However, when the frequency exceeds the first critical value f{sub c}, the positive ions are trapped in the gap, increasing the field considerably. This makes the breakdown occur earlier; in other words, the breakdown voltage is lowered. As the frequency increases ...

Science.gov (United States)

Indicated inertial navigation error and required update frequency. phasing, and times). Docking Phase. Range; range rate. Clock angle; clock angle rate ...

UK PubMed Central (United Kingdom)

An elderly man receiving chlorambucil for chronic lymphatic leukaemia developed focal fits. The onset and frequency were dose related. There was no evidence of metabolic disturbance or of meningeal...Full Text Available

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Increased concern about potential health problems related to exposure to nonionizing electromagnetic fields (EMF) has occurred recently. The most recent epidemiological studies have dealt mainly with effects of extremely low frequency EMF on fetal development and cancer. This paper summarizes noteworthy aspects or recent reviews and studies in this area of research. There has been increased concern recently about potential health problems related to exposure to nonionizing electromagnetic fields (EMF). Although some questions have been raised concerning exposure to radiofrequency radiation (at frequencies up to 300 GHz), the major focus has been on fields of extremely low frequency (especially 60 Hz). The most recent epidemiologic studies have dealt mainly with effects of extremely-low-frequency EMF on fetal development and with the initiation or promotion of cancer.

UK PubMed Central (United Kingdom)

Animal communication theory predicts that low-frequency cheating should be common in generally honest signalling systems. However, perhaps because cheats are designed to go undetected, there are few...Full Text Available

International Nuclear Information System (INIS)

FELs require tight control of the amplitudes and phase of the fields in two linear accelerator tanks to obtain stable lasing. The accelerator control loops must establish constant, stable, repeatable amplitudes and phases of the rf fields and must have excellent bandwidth to control high-frequency noise components. A model of the feedback loops has been developed that agrees well with measurements and allows easy substitution of components and circuits, thus reducing breadboarding requirements. The model permits both frequency and time-domain analysis. The accelerator control scheme and model are described and the control of noise in feedback loops is discussed, showing how low-frequency-noise components (errors) can be corrected, but high-frequency-noise components (errors) are actually amplified by the feedback circuit. Measurements of noise in both open- and closed-loop modes is shown and comparison ...

Science.gov (United States)

... Increased frequency of psychiatric/behavioral disorders, including aggressive behavior, seen in children treated with tolterodine. ...

UK PubMed Central (United Kingdom)

Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 are responsible for a subset of the muscular dystrophies. In this study we aim to characterise the nature and frequency of abnormalities...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

Three-dimensional seismic wavefields may be extrapolated in depth, one frequency at a time, by two-dimensional convolution with a circularly symmetric, frequency- and velocity-dependent filter. This depth extrapolation, performed for each frequency independently, lies at the heart of 3-D finite-difference depth migration. The computational efficiency of 3-D depth migration depends directly on the efficiency of this depth extrapolation. McClellan transformations provide an efficient method for both designing and implementing two-dimensional digital filters that have a particular form of symmetry, such as the circularly symmetric depth extrapolation filters used in 3-D depth migration. Given the coefficients of one-dimensional, frequency- and velocity-dependent filters used to accomplish 2-D depth migration, McClellan transformations lead to a simple and efficient algorithm for 3-D depth migration. 21 ...

British Library Electronic Table of Contents (United Kingdom)

Abstract Neurodegenerative and neurometabolic disorders may cause significant morbidity and mortality in children. Imaging is important in early diagnosis of metabolic disorders and in determining the extent of brain injury. Especially after the development of new techniques such as diffusion-weighted magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS), neuroimaging plays more important role in the diagnosis and management of these disorders. In these disorders, usually a mutation causes a clinically significant block in one or more metabolic pathways. This blockage usually results in either a deficiency of the product or in an accumulation of substrate with damage induced by either storage or toxicity. The presenting symptoms are usually nonspecific. In some of the ...

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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 ...