One of the most fascinating aspects of plant morphology is the regular geometric arrangement of leaves and flowers, called phyllotaxy. The shoot apical meristem (SAM) determines these patterns, which vary depending on species and developmental stage. Auxin acts as an instructive signal in leaf initiation, and its transport has been implicated in phyllotaxy regulation in Arabidopsis (Arabidopsis ...

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Eight X-linked recombination-defective meiotic mutants (representing five loci) and 12 X-linked mutagen-sensitive mutants (representing seven loci) of Drosophila melanogaster have been examined cytologically in neuroblast metaphases for their effects on the frequencies and types of spontaneous chromosome aberrations. Twelve ...

... BRCA2-mutant primary MEF showed sharply elevated numbers of chromatid and chromosome aberrations, including breaks, deletions and ...

The L5178Y/TK+/- mouse lymphoma assay is utilized to quantitate the induction of thymidine kinase (TK)-deficient mutants. TK-heterozygous cells are treated with the test compound, newly induced mutants are allowed to express, and mutants are selected with...

The L5178Y/TK+/- mouse lymphoma assay is utilized to quantitate the induction of thymidine kinase (TK)-deficient mutants. K-heterozygous cells are treated with the est compound, newly induced mutants are allowed to express, and mutants are selected with trifluorothymidine (TFT). ...

The micronucleus test has been advocated as a rapid and easy alternative to aberration analysis. In testing the hypothesis that the small-colony thymidine kinase deficient mutants of L5178Y/TK+/- -3.7.2C mouse lymphoma cells represent an estimate of the c...

Eight isogenic Haemophilus influenzae strains whose extracts lack ATP-dependent deoxyribonuclease activity (Add/sup -/ mutants) form three complementation and genetic linkage groups. Since there are known to be three subunits of the enzyme, these data suggest that each of the three genes specifies a different subunit. Gel electrophoresis of partially purified ...

Human genetic disease is known to result from both point mutations and chromosomal aberrations. It is therefore critical that short-term in vitro mammalian tests be evaluated as to their capabilities for detecting both types of lesions. Research to date i...

The author attempts a quantitative description of the resistance factor of the 2nd chromosome (rar-2) on the mutation rate after irradiation, an explanation of the mechanism of action via an analysis of induced numerical aberration, and an analysis of the...

A temperature-sensitive, radiation-sensitive mutant of Escherichia coli has been assayed for DNA ligase activity in vitro. The strain contains a markedly reduced amount of DNA-joining activity, which is thermolabile. The formation of the ligase-adenylate intermediate is also temperature-sensitive in vitro. Two temperature-resistant revertants of the mutant ...

The synthesis of asparagine-linked oligosaccharides involves the formation of a lipid-linked precursor oligosaccharide that has the composition Glc3Man9GlcNAc2. We have used a [3H]mannose suicide selection to obtain mutants in yeast that are blocked in the synthesis of this precursor oligosaccharide. The alg1 mutant accumulated lipid-linked GlcNAc2, alg2 ...

� Gibberellin (GA) deficiency resulting from the na mutation in pea (Pisum sativum) causes a reduction in nodulation. Nodules that do form are aberrant, having poorly developed meristems and a lack of enlarged cells. Studies using additional GA-biosynthesis double mutants indicate that this results from severe GA deficiency of the roots rather than ...

BackgroundEpidermal growth factor receptor (EGFR) controls a wide range of cellular processes, and altered EGFR signaling contributes to human cancer. EGFR kinase domain mutants found in non-small cell lung cancer (NSCLC) are constitutively active, a trait critical for cell transformation through activation of downstream pathways. Endocytic trafficking of EGFR is a major ...

The zebrafish lens opaque (lop) mutant was identified in a chemical mutagenesis screen. The lop mutant, which develops normally through 4 days postfertilization (dpf), exhibits several signs of lens and retinal degeneration at 7 dpf. Histology revealed disrupted lens fibers and increased numbers of nucleated cells within the mutant ...

Rad51C is a central component of two complexes formed by five Rad51 paralogs in vertebrates. These complexes are involved in repairing DNA double-strand breaks through homologous recombination. Despite accumulating evidence suggesting that the paralogs may prevent aneuploidy by controlling centrosome integrity, Rad51C's role in maintaining chromosome stability remains unclear. Here we demonstrate ...

The cytogenetic effects of X-rays and Au ions were investigated in repair-proficient CHO-K1 cells and their radiosensitive mutant strain xrs5, which shows a defect in the rejoining of DNA double-strand breaks. Both cell lines were synchronized by mitotic shake off, irradiated in G_1-phase with either 250 kV X-rays or 780 MeV/u Au ions (LET: 1150 keV/mum) and chromosome ...

The frequency of translocations induced in diploid conidia of Aspergillus nidulans by gamma rays was much higher than that of recessive mutants involving a single chromosome. More than half of the surviving nuclei contalned viable translocations at radiation doses within the range normally employed for induction of mutants in microorganisms. ...

volcano- shaped secondary cell wall known as the columella (Vaughn and Whitehouse, 1971; Koornneef, 1981 mucilage and columellae (Koornneef, 1981; Bowman and Koornneef, 1994; Gal- way et al., 1994; Rerie et al and columellae (Bowman and Koornneef, 1994; Jofuku et al., 1994). Mutants defective in ABERRANT TESTA SHAPE

The authors have developed a cytogenetic technique that allows observation of chromosome rearrangements associated with TK-/- mutagenesis of the L5178Y/TK+/-3.7.2C cell line early in mutant clonal history. For a series of mutagenic treatments they show th...

The authors have developed a cytogenetic technique that allows observation of chromosome rearrangements associated with TK-/- mutagenesis of the L5178Y/TK+/-3.7.2C cell line early in mutant clonal history. For a series of mutagenic treatments they show that the major proportion (...

Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous inherited disease causing hypopigmentation and prolonged bleeding times. An additional serious clinical problem of HPS is the development of lung pathology, which may lead to severe lung disease and premature death. No cure for the disease exists, and previously, no animal model for the HPS lung abnormalities has been reported. A mouse ...

Dysplastic colon adenomas are thought to arise from growth of clones of APC -/- colonic epithelial cells. Isolated clusters of dysplastic crypts are often observed in patients with familial adenomatous polyposis. These patients have genotype APC +/-, and the clusters of dysplastic crypts (called microadenoma or aberrant crypt foci) are thought to represent an early stage in ...

The eukaryotic nucleolus is multifunctional and involved in the metabolism and assembly of many different RNAs and ribonucleoprotein particles as well as in cellular functions, such as cell division and transcriptional silencing in plants. We previously showed that Arabidopsis thaliana exon junction complex proteins associate with the nucleolus, suggesting a role for the nucleolus in mRNA ...

The overall goal of our research remains to investigate the mutagenic and clastogenic effects of exposure to low levels of ionizing radiation to human lymphocytes. Principally, we are studying hospital patients referred to a nuclear medicine department for diagnostic cardiac imaging and nuclear medicine technologies who administer radionuclides. Emphasis in the first year, as described in the ...

The overall goal of our research was to investigate the mutagenic and clastogenic effects of exposure to low levels of ionizing radiation to human lymphocytes. Principally, we studied hospital patients referred to a nuclear medicine department for diagnostic cardiac imaging and nuclear medicine technologists who administer radionuclides. Emphasis in the first year, as described in the first ...

The overall goal of our research remains to investigate the mutagenic and clastogenic effects of exposure to low levels of ionizing radiation to human lymphocytes. Principally, we are studying hospital patients referred to a nuclear medicine department for diagnostic cardiac imaging and nuclear medicine technologies who administer radionuclides. Emphasis in the first year, as described in the ...

TsG16(I) is a temperature-sensitive mutant of vesicular stomatitis virus, Indiana serotype. Our stocks of this mutant overproduce polyadenylic acid in an in vitro transcription system. The overproduction of polyadenylic acid occurs at all temperatures tested (27, 31, 35, and 39 degrees C) and is apparently not due to an alternation in the N protein-RNA ...

The V-E5 cell line, a mutant V79 Chinese hamster cell line, was used to study the effect of chromosomal instability on the spectrum of gene mutations and chromosome aberrations induced by the anthracycline antibiotic adriamycin (AM). V-E5 cells showed hypersensitivity to the cytotoxic effects of AM when compared to the parental cell line. AM caused both, ...

Mutations within exons are responsible for aberrant splicing of pre-mRNA in several human disease genes and in some viral systems. Nonsense, missense, and even synonymous mutations can induce aberrant skipping of the mutant exon, producing nonfunctional proteins. In this paper, we describe the effect on the splicing efficiency of the ...

Mutations within exons are responsible for aberrant splicing of pre-mRNA in several human disease genes and in some viral systems. Nonsense, missense, and even synonymous mutations can induce aberrant skipping of the mutant exon, producing nonfunctional proteins. In this paper, we describe the effect on the splicing efficiency of the ...

Dorsal root ganglion (DRG) sensory neurons transmit all somatosensory information from the trunk region of the body. erbb3 mutant zebrafish do not form DRG neurons because the neural crest cells that generate them migrate aberrantly. Here we report that homozygous erbb3 mutants appear to swim and feed normally, and that they survive ...

Epilepsy is heritable, yet few causative gene mutations have been identified, and thus far no human epilepsy gene mutations have been found to produce seizures in invertebrates. Here we show that mutations in prickle genes are associated with seizures in humans, mice, and flies. We identified human epilepsy patients with heterozygous mutations in either PRICKLE1 or PRICKLE2. In overexpression ...

Acute myeloid leukemia is a cancer of the myeloid lineage, characterized by the rapid proliferation of immature progenitor cells which accumulate in the bone marrow and interfere with the production of normal blood cells. Aberrant regulation of E-twenty-six (ETS) specific transcription factors such as PU.1 (SPI1) is thought to play a major role in this type of leukemia. The ...

Two mutants of Streptococcus lactis ATCC 11454 have been isolated which possess an impaired lactose-fermenting capacity; galactose utilization is also affected, but to a lesser extent. Although the Embden-Meyerhof-Parnas pathway is the major, if not the sole, pathway of carbohydrate metabolism in the three strains, the fermentation end products of the ...

The tight control of wild-type p53 by mainly MDM2 in normal cells is permanently lost in tumors harboring mutant p53, which exhibit dramatic constitutive p53 hyperstabilization that far exceeds that of wild-type p53 tumors. Importantly, mutant p53 hyperstabilization is critical for oncogenic gain of function of mutant p53 in vivo. ...

Genetic effects of ionizing radiations and chemical mutagens, especially with regard to the induction of viable mutants, were compared in barley. The chief mutagens used consisted of neutron and x irradiation, as well as treatments with glycidol, ethyleneimine, and ethyl methanesulfonate. Greenhouse mutants (chlorophyll ...

To shed light on the mechanism underlying the cellular response to the radiomimetic agents calicheamicin Y(1)(1) (CAL) and neocarzinostatin (NCS), several hamster cell mutants defective in different DNA repair pathways were used. Two X-ray sensitive Chinese hamster V79 mutant cell lines, XR-V9B and V-E5 were studied for their response to the induction of ...

The mutation rate, when calculated with point mutations, was higher in mature sperm than the rate for spermatogonia with 900 r of x radiation. The higher rate in sperm shows a difference in the mutational sensitivity of the two types of cells. Selection of chromosome breakage types from spermatogonia cannot account for the difference. The spermatogonial mutants show ...

The plant growth regulator gibberellin (GA) has a profound effect on shoot development and promotes developmental transitions such as flowering. Little is known about any analogous effect GA might have on root development. In a screen for mutants, Arabi-dopsis plants carrying a mutation designated pickle (pkl) were isolated in which the primary root meristem retained ...

Among 13 R/sub 3/ morphological or chlorophyll mutants of durum wheat Cappelli,'' 3 progenies carrying a reciprocal translocation were found. Such chromosomic aberrations do not increase stertlity. Translocation homozygous lines are now going to be obtained. Cytological investigations of abnormal R/sub 4/ plants showed a ...

Nuclear hormone receptors are hormone-regulated transcription factors that play critical roles in chordate development and homeostasis. Aberrant nuclear hormone receptors have been implicated as causal agents in a number of endocrine and neoplastic diseases. The syndrome of Resistance to Thyroid Hormone (RTH) is a human genetic disease characterized by an impaired ...

BackgroundThe development and progression of colorectal cancer has been extensively studied and the genes responsible have been well characterized. However the correlation between the SMAD4 gene mutations with KRAS mutant status has not been explored by many studies so far. Here, in this study we aimed to investigate the role of SMAD4 gene aberrations in ...

... dynamic aberrations. For the dynamic aberration case, elimination of ... dynamic aberrations. For the dynamic aberration case, elimination of ...

In the mouse, more than 16 loci are associated with mutant phenotypes that include defective pigmentation, aberrant targeting of lysosomal enzymes, prolonged bleeding, and immunodeficiency, the result of defective biogenesis of cytoplasmic organelles: melanosomes, lysosomes, and various storage granules. Many of these mouse mutants are ...

Deposition of proteins of aberrant conformation is the hallmark of many neurodegenerative diseases. Misfolding of the normally globular mutant superoxide dismutase-1 (SOD1) is a central, early, but poorly understood event in the pathogenic cascade leading to familial forms of ALS. Here we report that aggregates composed of an ALS-causing SOD1 ...

Amoebae of Dictyostelium discoideum, strain HL50 were mutagenized with N-methyl-N'-nitro-N-nitrosoguanidine, cloned, allowed to form pseudoplasmodia and screened for aberrant positive and negative thermotaxis. Three types of mutants were found. Mutant HO428 exhibits only positive thermotaxis over the entire temperature range ...

The testa of higher plant seeds protects the embryo against adverse environmental conditions. Its role is assumed mainly by controlling germination through dormancy imposition and by limiting the detrimental activity of physical and biological agents during seed storage. To analyze the function of the testa in the model plant Arabidopsis, we compared mutants affected in testa ...

Toxoplasma gondii pathogenesis includes the invasion of host cells by extracellular parasites, replication of intracellular tachyzoites, and differentiation to a latent bradyzoite stage. We present the analysis of seven novel T. gondii insertional mutants that do not undergo normal differentiation to bradyzoites. Microarray quantification of the variation in genome-wide RNA ...

Abstractcdx4, a caudal-related homeodomain-containing transcription factor, functions as a regulator of hox genes, thereby playing a critical role in anterior�posterior (A-P) patterning during embryogenesis. In zebrafish, homozygous deletion of the cdx4 gene results in a mutant phenotype known as kugelig, with aberrant A-P patterning and severe anemia ...

Prion diseases are fatal neurodegenerative disorders caused by aberrant metabolism of the cellular prion protein (PrP^C). In genetic forms of these diseases, mutations in the globular C-terminal domain are hypothesized to favor the spontaneous generation of misfolded PrP conformers (including the transmissible PrP^Sc form) that ...

The mechanisms by which mutant variants of Cu/Zn-superoxide dismutase (SOD1) cause familial amyotrophic lateral sclerosis are not clearly understood. Evidence to date suggests that altered conformations of amyotrophic lateral sclerosis mutant SOD1s trigger perturbations of cellular homeostasis that ultimately cause motor neuron degeneration. In this study ...

will be awarded to Prof. Finsen, the Danish discoverer of the treatment by red light for lupus, and the prize with a relativelysmallgenome.Thesemutantshave hypernodulation and aberrant roots, hence their designation as har mutants and nodule growingpoints,ormeristems. Grafting experiments showed that HAR1 control of nodule and lateral

The micronucleus test has been advocated as a rapid and easy alternative to aberration analysis. n testing the hypothesis that the small-colony thymidine kinase deficient mutants of L5178Y/TK+/- -3.7.2C mouse lymphoma cells represent an estimate of the clastogenicity of test chem...

oc- curs (Ohad et al., 1999). The MEDEA protein encodes a protein with a SET domain with 55% identity to Enhancer of zeste. MEDEA mutants show aberrant growth regulation during embryogenesis as embryos derived from MEDEA eggs grow excessively and die during seed desiccation (Grossniklaus et al., 1998). While

RNA accumulation by iron was aberrant in a fur mutant strain, and Fur repressed an irr::lacZ promoter fusion in the presence of iron. Furthermore, metal- dependent binding of Fur to an irr gene promoter was demonstrated in the hemA promoter by Page et al. (1994). Therefore, regulation of hemA and hemB transcripts by iron

. Malformed bristles are a result of aberrant actin assembly. Monoclonal antibodies against Drosophila bristles bent and forked; strong, many bristles affected, thickened, bent and forked; extreme, almost every and shorter, with sharp bends, kinks and forked ends (Fig. 7B,C,E,F,G). The ridges on mutant bristles were

Huntington's disease (HD) is a progressive neurodegenerative disorder that is caused by abnormal expansion of CAG trinucleotide repeats. Neuroinflammation is a typical feature of most neurodegenerative diseases that leads to an array of pathological changes within the affected areas in the brain. The neurodegeneration in HD is also caused by aberrant immune response in the ...

Since the finding that the L5178Y TK+/-->TK-/- forward mutational assay system can detect and distinguish a range of mutational events, including large chromosomal aberrations and smaller, perhaps point mutational events, the chromosomal analysis of these lesions at the highest p...

Progress is reported on research activities in the fields of mutagenesis in Haemophilus influenzae and Escherichia coli; radioinduced chromosomal aberrations in mammalian germ cells; effects of uv radiation on xeroderma pigmentosum skin cells; mutations in Chinese hamster ovary cells; radioinduced hemoglobin variants in the mouse; analysis of ...

The L5l78Y mouse lymphoma assay was used to examine the potential mutagenicity of three halogenated pyridine compounds. Position effects of the halogen moiety and role of metabolic activation were analyzed based on induced mutant frequency, gross aberrations, and micronuclei. ith...

2-Amino-6-hydroxyadenine (AHA) was evaluated in L5178Y/TK+/--3.7.2C mouse lymphoma cells for mutation at tk, hgprt, and the Ouabain r loci, as well as for gross aberrations and induction of micronuclei. n addition, AMA was evaluated for its ability to induce mutants in CHO cells....

Human genetic disease is known to result from both point mutations and chromosomal aberrations. It is therefore critical that short-term in vitro mammalian tests be evaluated as to their capabilities for detecting both types of lesions. Research to date indicates that L5178Y/TK p...

Chromatic aberrations arise as a consequence of the disper- ..... Chromatic aberrations are divided into chromatic aberration ...

... superior to electrostatic systems with respect to total aberration, but their ... The two limiting aberrations, spherical and chromatic, are analyzed in this ...

... KNOWN EXPRESSIONS FOR THE ABERRATIONS OF PLANE ... CAN CONSIDERABLY REDUCE THE SPHERICAL ABERRATION AND COMA ...

We report the insertion of the transposable element B104 in the Phenylalanine hydroxylase gene of the Drosophila mutant Henna-recessive 3. Its presence alters the Phenylalanine hydroxylase splicing pattern, producing at least two aberrant mRNAs which contain part of the B104 sequence interrupting the coding region. This aberrant ...

The temporal and spatial control of meristem identity is a key element in plant development. To better understand the molecular mechanisms that regulate inflorescence and flower architecture, we characterized the rice aberrant panicle organization 2 (apo2) mutant which exhibits small panicles with reduced number of primary branches due to the precocious ...

BackgroundAberrant hyperphosphorylation of tau protein has been implicated in a variety of neurodegenerative disorders. Although a number of protein kinases have been shown to phosphorylate tau in vitro and in vivo, the molecular mechanisms by which tau phosphorylation is regulated pathophysiologically are largely unknown. Recently, a growing body of evidence suggests a link ...

A study of the effects of gamma irradiation on oats and wheat, especially Triticum vulgare variety Shinchunaga, showed many morphologic and physiologic mutants in the X/sub 2/ and the later generations of the irradiated wheat. From the genetic behavior of the mutant characters, it is assumed that most of them were induced through chromosome ...

The autoradiographic 6-thioguanine-resistant mutant lymphocyte assay and a chromosome aberration assay were used to determine the time-course of appearance and persistence of elevated frequencies of hprt variants and dicentric chromosomes in patients receiving x-irradiation therapy. The hprt mutation assays were done with frozen/thawed lymphocytes isolated ...

A presumably x-ray-induced mouse mutation at the p locus, recessive to both p and wild type alleles, has been analyzed. When homozygous the mutant produces the same effect on pigmentation as p p, but in addition there is poor growth, slightly uncoordinated behavior, difficulty in chewing, inadequate maternal care by females, sterility in males, prematare senility, and ...

The overall goal of our research remains to investigate the mutagenic and clastogenic effects of exposure to low levels of ionizing radiation to human lymphocytes. We are utilizing these endpoints to examine sets of individuals who have been exposed to ionizing radiation as a result of medical procedures. The cohorts we are studying include: nuclear medicine technicians, two set of nuclear ...

Many mutations confer upon copper/zinc superoxide dismutase-1 (SOD1) one or more toxic function(s) that impair motor neuron viability and cause familial amyotrophic lateral sclerosis (FALS). Using a conformation-specific antibody that detects misfolded SOD1 (C4F6), we demonstrate that oxidized WT-SOD1 and mutant-SOD1 share a conformational epitope that is not present in normal ...

Inflorescence architecture is one of the most important agronomical traits. Characterization of rice aberrant panicle organization 1 (apo1) mutants revealed that APO1 positively controls spikelet number by suppressing the precocious conversion of inflorescence meristems to spikelet meristems. In addition, APO1 is associated with the regulation of the ...

Aberrations of p53 occur in most, if not all, human cancers. In breast cancer, p53 mutation is the most common genetic defect related to a single gene. Immortalized human mammary epithelial cells resemble the earliest forms of aberrant breast tissue growth but do not express many malignancy-associated phenotypes. We created a model of human mammary ...

Vitamin D is a steroid hormone with many important functions in the brain, mediated through the nuclear Vitamin D receptor (VDR). Mounting clinical data link VDR mutations to various psychiatric phenotypes. We have reported previously that mutant mice lacking functional VDR ("Tokyo" VDR mutant mice) display several behavioural anomalies, including high ...

We have investigated the causal factors behind the age-related oxidation of proteins during arrest of cell proliferation. A proteomic approach demonstrated that protein oxidation in non-proliferating cells is observed primarily for proteins being produced in a number of aberrant isoforms. Also, these cells exhibited a reduced translational fidelity as demonstrated by both ...

Early events in the axonal tract formation from mammillary bodies remain poorly understood. In the present study, we reported an aberrant pattern of axonal projections from mammillary bodies to the dorsal thalamus in mice lacking the transcription factor Pax6. We found that Netrin-1 was ectopically up-regulated and that both Slit1 and Slit2 were down-regulated in the ...

AMP-activated protein kinase (AMPK) responds to impaired cellular energy status by stimulating substrate metabolism for ATP generation. Mutation of the ?2 regulatory subunit of AMPK in humans renders the kinase insensitive to energy status and causes glycogen storage cardiomyopathy via unknown mechanisms. Using transgenic mice expressing one of the mutant ?2 subunits (N488I) ...

The TIMP family of matrix metalloproteinase inhibitors consists of four members, of which TIMP-1, -2 and -4 are secreted, freely diffusible proteins, whereas TIMP-3 is ECM-associated. Mutations in the TIMP3 gene have been linked to Sorsby's fundus dystrophy (SFD), an autosomal dominant inherited retinal degenerative disease that leads to blindness. The SFD mutations characterized result in ...

The environmental reaction of a somatic subdividedleaf mutant of the potato variety President was tested in two experiments. It was found that the mutant, besides the abnormal subdivision of leaf, deviates from the normal type by having taller stems and a greater assimilating leaf surface. Significant difference between the two types in yield ...

Coloration is one of the most variable characters in animals and provides rich material for studying the developmental genetic basis of pigment patterns. In the silkworm, more than 100 gene mutation systems are related to aberrant color patterns. The melanism (mln) is a rare body color mutant that exhibits an easily distinguishable phenotype in both larval ...

Dictyostelium is the only non-metazoan with functionally analyzed SH2 domains and studying them can give insights into their evolution and wider potential. LrrB has a novel domain configuration with leucine-rich repeat, 14-3-3 and SH2 protein-protein interaction modules. It is required for the correct expression of several specific genes in early development and here we characterize its role in ...

Dictyostelium is the only non-metazoan with functionally analyzed SH2 domains and studying them can give insights into their evolution and wider potential. LrrB has a novel domain configuration with leucine-rich repeat, 14-3-3 and SH2 protein�protein interaction modules. It is required for the correct expression of several specific genes in early development and here we characterize its role in ...

We identified two predicted proteins in Schizosaccharomyces pombe, Rrp1 (SPAC17A2.12) and Rrp2 (SPBC23E6.02) that share 34% and 36% similarity to Saccharomyces cerevisiae Ris1p, respectively. Ris1p is a DNA-dependent ATP-ase involved in gene silencing and DNA repair. Rrp1 and Rrp2 also share similarity with S. cerevisiae Rad5 and S. pombe Rad8, containing SNF2-N, RING finger and Helicase-C ...

Although A-type lamins are ubiquitously expressed, their role in the tissue-specificity of human laminopathies remains enigmatic. In this study, we generate a series of transfection constructs encoding missense lamin A mutant proteins fused to green fluorescent protein and investigate their subnuclear localization using quantitative live cell imaging. The ...

Peripheral neuropathy is a broad category of disorders with a diverse etiology, grouped together by their common pathogenic effect on the peripheral nervous system (PNS). Because of the heterogeneity observed to be responsible for these disorders, a forward genetics method of gene discovery was employed to identify additional affected pathways. In this report we describe the ...

Phosphocholine (PCho) is an essential metabolite for plant development because it is the precursor for the biosynthesis of phosphatidylcholine, which is the major lipid component in plant cell membranes. The main step in PCho biosynthesis in Arabidopsis thaliana is the triple, sequential N-methylation of phosphoethanolamine, catalyzed by S-adenosyl-l-methionine:phosphoethanolamine ...

Random insertional mutagenesis was used to investigate pathogenicity determinants in Leptosphaeria maculans. One tagged nonpathogenic mutant, termed m20, was analysed in detail here. The mutant phenotype was investigated by microscopic analyses of infected plant tissues and in vitro growth assays. Complementation and silencing experiments were used to ...

Background and AimsMorphological mutants have been useful in elucidating the phytomeric structure of plants. Recently described mutants have shed new light on the ontogeny (development of plant structures) and the phytomeric system of barley (Hordeum vulgare). Since the current model for barley phytomers was not adequate to explain the nature of some ...

Mutations in collagen II are associated with spondyloepiphyseal dysplasia, a group of heritable diseases whose common features include aberrations of skeletal growth. The mechanisms through which mutations in collagen II affect the cartilaginous tissues are complex and include both intracellular and extracellular processes. One of those mechanisms involves cellular stress ...

Mutations in superoxide dismutase (SOD1) are causative for inherited amyotrophic lateral sclerosis. A proportion of SOD1 mutant protein is misfolded onto the cytoplasmic face of mitochondria in one or more spinal cord cell types. By construction of mice in which mitochondrially targeted enhanced green fluorescent protein is selectively expressed in motor neurons, we ...

Mutations in superoxide dismutase (SOD1) are causative for inherited amyotrophic lateral sclerosis. A proportion of SOD1 mutant protein is misfolded onto the cytoplasmic face of mitochondria in one or more spinal cord cell types. By construction of mice in which mitochondrially targeted enhanced green fluorescent protein is selectively expressed in motor neurons, we ...

The overall goal of our research was to investigate the mutagenic and clastogenic effects of exposure to low levels of ionizing radiation to human lymphocytes. Principally, we studied hospital patients referred to a nuclear medicine department for diagnostic cardiac imaging and nuclear medicine technologists who administer radionuclides. Emphasis in the first year, as described in the first ...

Parapoxviruses can be morphologically distinguished from other poxviruses in conventional negative staining electron microscopy (EM) by their ovoid appearance and the spiral tubule surrounding the virion's surface. However, this technique may introduce artifacts. We have examined Orf virus (ORFV; the prototype species of the Parapoxvirus genus) by cryoelectron microscopy (cryo-EM) and ...

The radiosensitive Chinese hamster cell line XR-V15B was used to study the effect of decreased rejoining of DNA double-strand breaks (DSBs) on gene mutations and chromosome aberrations. XR-V15B cells are hypersensitive to the cytotoxic effects of neocarzinostatin (NCS) and methyl methanesulfonate (MMS). Both mutagens induced more chromosome aberrations in ...