Search results for "MUTATION"
showing 10 items of 2830 documents
Woc (without children) gene control of ecdysone biosynthesis in Drosophila melanogaster.
2001
Abstract The first step in ecdysteroidogenesis, i.e. the 7,8-dehydrogenation of dietary cholesterol (C) to 7-dehydrocholesterol (7dC), is blocked in Drosophila melanogaster homozygous woc (without children) third instar larval ring glands (source of ecdysone). Unlike ring glands from wild-type D. melanogaster larvae, glands from woc mutants cannot convert radiolabelled C or 25-hydroxycholesterol (25C) to 7dC or 7-dehydro-25-hydroxycholesterol (7d25C) in vitro, nor to ecdysone (E). Yet, when these same glands are incubated with synthetic tracer 7d25C, the rate of metabolism of this polar Δ5,7-sterol into E is identical to that observed with glands from comparably staged wild-type larvae. The…
Sequence variation and regulatory variation in acetylcholinesterase genes contribute to insecticide resistance in different populations of Leptinotar…
2021
Abstract Although insect herbivores are known to evolve resistance to insecticides through multiple genetic mechanisms, resistance in individual species has been assumed to follow the same mechanism. While both mutations in the target site insensitivity and increased amplification are known to contribute to insecticide resistance, little is known about the degree to which geographic populations of the same species differ at the target site in a response to insecticides. We tested structural (e.g., mutation profiles) and regulatory (e.g., the gene expression of Ldace1 and Ldace2, AChE activity) differences between two populations (Vermont, USA and Belchow, Poland) of the Colorado potato beet…
A Note on Resampling the Integration Across the Correlation Integral with Alternative Ranges
2003
Abstract This paper reconsiders the nonlinearity test proposed by Ko[cbreve]enda (Ko[cbreve]enda, E. (2001). An alternative to the BDS test: integration across the correlation integral. Econometric Reviews20:337–351). When the analyzed series is non‐Gaussian, the empirical rejection rates can be much larger than the nominal size. In this context, the necessity of tabulating the empirical distribution of the statistic each time the test is computed is stressed. To that end, simple random permutation works reasonably well. This paper also shows, through Monte Carlo experiments, that Ko[cbreve]enda's test can be more powerful than the Brock et al. (Brock, W., Dechert, D., Scheickman, J., LeBar…
The measurement of rank mobility
2009
Abstract In this paper we investigate the problem of measuring social mobility when the social status of individuals is given by their rank. In order to sensibly represent the rank mobility of subgroups within a given society, we address the problem in terms of partial permutation matrices which include standard (“global”) matrices as a special case. We first provide a characterization of a partial ordering on partial matrices which, in the standard case of global matrices, coincides with the well-known “concordance” ordering. We then provide a characterization of an index of rank mobility based on partial matrices and show that, in the standard case of comparing global matrices, it is equi…
Photo-thermal control of surface plasmon mode propagation at telecom wavelengths
2016
Surface plasmon polaritons (SPPs) is the promising versatile platform proposed for guiding electromagnetic waves at nanoscale dimensions. In this context dynamic control of SPPs prop- agation is of paramount importance. Thermo-optical (TO) effect is considered as an efficient technique for performing active control of plasmonic devices. Among the thermo-optical based plasmonic devices demonstrated so far TO coefficient is dominantly provided by a dielectric material on top of the metal sustaining the SPP mode, however, the role of TO properties of the metal has been rarely investigated for plasmonic applications especially at the telecom frequency ranges. Therefore, the aim of this thesis i…
A comparative investigation of DNA adducts, DNA strand breaks and gene mutations induced by benzo[a]pyrene and (+/-)-anti-benzo[a]pyrene-7,8-diol 9,1…
1997
Abstract Genotoxic effects of benzo[ a ]pyrene (BP) and its reactive metabolites (±)- anti -benzo[ a ]pyrene-7,8-diol 9,10-oxide ((±)- anti -BPDE) were comparatively investigated in vitro with the permanent human fibroblast cell line MRC5CV1. Induced DNA adducts were measured by 32 P-postlabeling, DNA strand breakage was determined by the comet assay and the HPRT gene mutation test was used to detect cytotoxicity and mutagenicity. Treatment of MRC5CV1 cells with S9 mix-activated BP or with (±)- anti -BPDE resulted in a concentration-dependent increase in DNA adducts and strand breaks. Genotoxic effects of BP and (±)- anti- BPDE were detected by 32 P-postlabeling and the comet assay with sim…
Isolation and characterization of anavirulent Candida albicansyeast monomorphic mutant
2003
Mutagenesis of Candida albicans strain ATCC 26555 with N-methyl-nitro-N-nitrosoguanidine followed by plating on solid yeast nitrogen base-N-acetylglucosamine medium at 37 degrees C yielded colony morphology variants that were characterized as forming smooth colonies, in contrast to the rough colonies formed by the parental strain. One yeast monomorphic mutant, CAL4, was studied in detail. Strain CAL4 is defective in filamentous growth, unable to form hyphae or pseudohyphae in vivo and in vitro. These filamentous structures are not elicited by commonly used external stimuli such as serum. The mutant had no obvious alterations in its mannan, glucan or chitin content. The total quantity of non…
Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.
1993
Abstract The fourth component of the human complement system (C4) is coded for by two genes, C4A and C4B, located within the MHC. Null alleles of C4 (C4Q0) are defined by the absence of C4 protein in plasma. These null alleles are due either to large gene deletions or to nonexpression of the respective genes. In a previous study, evidence was obtained for nonexpressed defective genes at the C4A locus, and for gene conversion at the C4B locus. To further characterize the molecular basis of these non-expressed C4A genes, we selected nine pairs of PCR primers from flanking genomic intron sequences to amplify all 41 exons from individuals with a defective C4A gene. The amplified products were s…
Inhibitory activities of short linear motifs underlie Hox interactome specificity in vivo
2015
Hox proteins are well-established developmental regulators that coordinate cell fate and morphogenesis throughout embryogenesis. In contrast, our knowledge of their specific molecular modes of action is limited to the interaction with few cofactors. Here, we show that Hox proteins are able to interact with a wide range of transcription factors in the live Drosophila embryo. In this context, specificity relies on a versatile usage of conserved short linear motifs (SLiMs), which, surprisingly, often restrains the interaction potential of Hox proteins. This novel buffering activity of SLiMs was observed in different tissues and found in Hox proteins from cnidarian to mouse species. Although th…
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia
2020
Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we perfor…