463 research outputs found

    Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse

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    Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) as the best candidate gene for both CSNB and LP. RNA-Seq data pinpointed a 1378 bp insertion in intron 1 of TRPM1 as the potential cause. This insertion, a long terminal repeat (LTR) of an endogenous retrovirus, was completely associated with LP, testing 511 horses (χ²=1022.00, p<<0.0005), and CSNB, testing 43 horses (χ2=43, p<<0.0005). The LTR was shown to disrupt TRPM1 transcription by premature poly-adenylation. Furthermore, while deleterious transposable element insertions should be quickly selected against the identification of this insertion in three ancient DNA samples suggests it has been maintained in the horse gene pool for at least 17,000 years. This study represents the first description of an LTR insertion being associated with both a pigmentation phenotype and an eye disorder.Rebecca R. Bellone … David L. Adelson, Sim Lin Lim … et al

    CYCLOBUTADIENE - FEATURES OF THE GROUND STATE SINGLET AND TRIPLET POTENTIAL ENERGY SURFACES, AND THEIR RELEVANCE TO MATRIX ISOLATION IR DATA

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    1^{1} C. Y. Lin and A. Krantz, Chem. Commun., 1111 (1972); see also A. Krantz, C. Y. Lin, and M. D. Newton, J. Am. Chem. Soc. 95, in press (1973). 2^{2} W. J. Hunt, P. J. Hay, and W. A. Goddard, III, J. Chem. Phys. 57, 738 (1972).Author Institution: Department of Chemistry, Brookhaven National Laboratory, Upton; Department of Chemistry, State University of New York, Stony BrookAb initio calculations (employing an extended basis of Gaussian orbitals) are reported for cyclobutadiene, isolated for the first time by Lin and Krantz.1Krantz.^{1} Unrestricted Hartree-Fock calculations for the triplet ground state yield a square equilibrium geometry with Rcc=1.4344R_{cc} = 1.4344\AA and a symmetric stretching force constant of \sim 6.4 md/\AA (scaled from 7.3 md\AA). Energetics of various distortions from equilibrium are discussed, with particular attention paid to the trapezoidal (EuE_{u}) deformation. The ground state singlet surface, based on an optimized2optimized^{2} 2-configuration wavefunction, has a rectangular equilibrium geometry (Rcc=1.338R_{cc} = 1.338 \AA,1.565 \AA, and symmetric stretching force constants 9.3 and 4.2 md/\AA, respectively), with an appreciable barrier separating the two Kekul\ ‘{e} structures. At the triplet (3A2g^{3}A_{2}g) equilibrium geometry, the singlet energy is \sim 8 Kcal/mole above the triplet. These and other features of the potential energy surfaces are shown to make plausible the assignment of the available IR data for the parent and deuterated cyclobutadiene to the triplet state. Frequency calculations based on ab initio and standard empirical force constants are also discussed

    Corporate focus, aftermarket returns & earnings management : a study on IPO firms.

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    In this paper, we examine the relation between the degree of business complexity and the level of earnings management. We study firms that have issued initial public offerings from 1993 to 1998. Our analysis indicates that greater corporate diversification is associated with an increased level of discretionary accruals

    氣相層析質譜法對亞甲雙氧甲基安非他命類毒品之旋光性與2,5-二甲氧基-4-乙硫基苯乙胺(2C-T-2)之分析研究

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    [[abstract]]Abstract For 3,4-methylenedioxyamphetamine (3,4-MDA)、3,4-methylenedi- oxymethamphetamine (3,4-MDMA), different stereoisomers cause different neurotoxicity. In this study, we describe a simple method for R- and S-isomer by reaction of S-(-)-N-(trifluoroacetyl)prolyl chloride (S-TPC). Using gas chromatography / mass spectrometry separated derivatives of 3,4-MDA and 3,4-MDMA successfully. Furthermore, we could separate and hydrolyze the derivatives, then we could gain the single form of 3,4-MDA and 3,4-MDMA. A simple and specific method based on gas-chromatography-selected ion monitoring mass spectrometry (GC-SIM-MS) for the analysis of in vivo metabolism of 2,5-dimethoxy-4-ethylthiophenethylamine (2C-T-2) in rats is described. Three male rats were administered 20 mg/kg of 2C-T-2 by intra-peritoneal injection, and 24h urine fractions were collected before and after administration for analysis. After hydrolysis of the urine samples, the metabolites were extracted by liquid-liquid extraction and analyzed by a quadruple mass spectrometer in the selected ion monitoring mode. The findings show that three metabolites of 2-(4-ethylsulfanyl-2,5-dimethoxyphenyl)-ethanol (MW: 242), 1-acetoamino-2-(2-hydroxy-4-ethylsulfanyl-5-methoxyphenyl)-ethane (MW: 269) and 1-acetoamino-2-(2-methoxy-4-ethylsulfanyl-5- hydroxyphenyl)-ethane (MW: 269) are present and the metabolic pathway for 2C-T-2 in the rat is proposed.

    Identification and annotation of recombinant repeats in mammals indicates they are experimental products for creating novel transposable element families.

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    About 40-50% of mammalian genomes are made up of repetitive elements, primarily transposable elements. Transposable elements' activities not only drive genome evolution, they contribute to the creation of novel recombinant repeats. Recombinant repeats have largely remained uncharacterized due to their complexity. Initially, I developed a pipeline for the genome wide identification of recombinant repeats in four different mammals: human, mouse, cow and horse. The pipeline identified 1,336,824 copies, but only 37,830 sequences were able to be clustered into 6,116 families. The majority of the recombinant repeats were simple recombinant repeat families and only a small proportion were complex recombinant repeat families. My analysis showed that recombinant repeat families only covered a small fraction of the genomes examined (0.30% in human, 0.13% in mouse, 0.217% in horse and 0.464% in cow), indicating most of the recombinant repeats were singletons. Further analysis has shown that both classes of RR were created via transposon-into-transposon events, indicating that novel transposable elements are likely to be created via this mechanism. I found that simple recombinant repeats were probably retrotranspositionally active because they contained polyA tails and target site duplications, showing that they integrated into the genome via retrotransposition events. However, complex recombinant repeat families were only replicated via segmental duplications. My analysis showed that complex recombinant repeat families are excellent candidates for the identification of genome segmental duplication regions that cannot be found through standard methods. In addition, I used the RR identification pipeline to annotate possible RR in pig genome. I discovered a novel RR family (LTR2i_SS) that contained > 1,000 copies. Repeat annotation showed that it was a chimeric LTR2_SS that contained ~300bp of un-annotated sequence, only found in the pig genome. Further investigation revealed that some LTR2i_SS flanked β3 proviruses, but these proviruses were unable to replicate autonomously as they did not encode a functional, complete polyprotein. My phylogenetic tree analysis of the LTR2i_SS and LTR2_SS familis suggested that LTR2i_SS was the ancestral form of LTR2_SS. In conclusion, I was able to identify the recombinant repeat distributions in different mammals and determine their most probable origin as TinT events. I have shown that recombinant repeats could serve as an important model to explain the origin of novel transposable elements in genomes, or could be used as markers to identify structural variations, or segmental duplications in different species. However, my data have also shown that we have to be cautious when annotating novel recombinant repeats in genomes, as they could be the ancestral form of other known transposable elements rather than novel forms generated through TinT.Thesis (Ph.D.) -- University of Adelaide, School of Molecular and Biomedical Science, 201

    Export premium, productivity, trade openness and wage inequality in China : empirical evidence from firm-level data.

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    This thesis uses Chinese firm-level data to investigate the relationships between the export premium, firm productivity and wage inequality. Using Chinese annual survey data for all state-owned firms and other non-state-owned firms with sales on mainland China over 5 million RMB, the author finds that there is a series of premiums for exporters compared with non-exporters. On average, exporters pay higher wages, produce more, sell more, add more value, employ more labour, have higher capital intensity, and have higher productivity (based on 1999-2003 data). Firms with relatively high export values will also be relatively more productive. Quantile results show that the premium decreases with the increase of the quantile. In addition, the export premium declines over time and across the industries, provinces and ownership types, and the higher the export intensity, the lower the export premium. The thesis further investigates the question: what determines the export premium – the selection effect or learning-by-exporting effect? First, the author uses the Olley and Pakes (1996) method to control both selection and simultaneity bias to estimate the reliable firm productivity. Then the author tests the self-selection and learning-by-exporting effects both parametrically and non-parametrically. The author finds both strong self-selection and learning-by-exporting effects at the aggregate level. The higher the productivity the firm has today, the easier for the firm to export tomorrow. The learning-by-exporting effect is the most significant in the second yearafter exporting. However, at the more disaggregated level, no significant learning effect is found within sectors and within middle and western provinces. A significant learning effect is found in eastern provinces. The learning-by-exporting effect across different ownership types is not robust to different testing methods. In addition, the author uses Chinese privately-owned firm-level survey data to investigate the heterogeneous export premium associated with different levels of trade. Firms engaged in international trade have higher premiums than firms which trade only across province borders. Firms which trade across province borders have higher premiums than firms that only trade within their province. Furthermore, export premium deviation between international trade and interprovincial trade is much smaller compared with the export premium deviation between interprovincial trade and inter-county trade. This finding implies that compared with the inter-county premium, the premium at interprovincial level is similar to the premium at the international level (though the former is actually less than the latter). The export premium caused by the self-selection effect can reflect the trade cost and it tells that trading goods across provincial borders within China is as onerous as crossing national borders. The next question to consider is whether engaging in international trade causes the wage inequality between firms to increase? To find out the answer, the author adopts a two-stage estimation strategy to study the effect of international trade on wage inequality. The first stage uses the Chinese annual survey firm-level data to calculate the wage inequality indexes—Gini and Theil of each province; as well as two dimensions of trade openness—intensive margin and extensive margin of each province. The second stage uses the panel data to study the impacts of trade margins on wage inequality between provinces. The results show that the variation of trade openness itself can explain nearly 70 percent of variation of wage inequality across China’s provinces and the extensive margin has a larger impact on increasing wage inequality than the intensive margin. Instrumental variable (IV) regression results imply that with one unit of increase in trade openness, the intensive margin increases wage inequality by nearly one unit and the extensive margin increases wage inequality by 1.2 to 1.3 units.Thesis (Ph.D.) -- University of Adelaide, School of Economics, 201

    THE PHOTOLUMINESCENCE FROM HYDROGEN-RELATED SPECIES IN COMPOSITES OF SiO2SiO_{2} NANOPARTICLES

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    a^{a} Y.D. Glinka, S. H. Lin and Y. -T. Chen, Appl. Phys. Lett., 75, 778 (1999).Author Institution: Department of Chemistry, Institute of Atomic and Molecular Sciences, National Taiwan University, Academic SinicaDispersed photoluminescence (PL) spectra of silica (SiO2)(SiO_{2}) nanoparticles induced by ArF (193 nm) and Nd:YAG (266 nm) lasers have been observed.aobserved.^{a} PL measurements from the composites of silica nanoparticles (the primary pasticle size 7 and 15 nm) as a function of heat-treatment temperature show that the PL results from hydrogen-related species and thermally produced structural defects. The green PL exhibits a progression with spacings of Δν630cm1\Delta \nu \sim 630 cm^{-1} assigned to the bending vibration of SiH\equiv Si-H on the surface of particles. The spacings increase up to Δν1200cm1\Delta \nu \sim 1200 cm^{-1} when SiH\equiv Si-H and non-bridging oxygen (SiO)(\equiv Si-O \bullet) form interfacial water species. The two-photon (TP) induced PL with an ArF laser excitation has also been studied. The TP-produced excitons can result in a self-trapped exciton recombination (blue band), surface hydrogen-related centers (green band) and bulk non-bridging oxygen hole centers (red band). Relaxation of free TP-produced excitons and energy transfer of the excitons to the surface and bulk defects will be discussed

    A system to detect inconsistencies between a domain expert’s different perspectives on (classification) tasks

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    This paper discusses the range of knowledge acquisition, including machine learning, approaches used to develop knowledge bases for Intelligent Systems. Specifically, this paper focuses on developing techniques which enable an expert to detect inconsistencies in 2 (or more) perspectives that the expert might have on the same (classification) task. Further, the INSIGHT system has been developed to provide a tool which supports domain experts exploring, and removing, the inconsistencies in their conceptualization of a task. We report here a study of Intensive Care physicians reconciling 2 perspectives on their patients. The high level task which the physicians had set themselves was to classify, on a 5 point scale (A-E), the hourly reports produced by the Unit’s patient management system. The 2 perspectives provided to INSIGHT were an annotated set of patient records where the expert had selected the appropriate category to describe that snapshot of the patient, and a set of rules which are able to classify the various time points on the same 5-point scale. Inconsistencies between these 2 perspectives are displayed as a confusion matrix; moreover INSIGHT then allows the expert to revise both the annotated datasets (correcting data errors, and/or changing the assigned categories) and the actual rule-set. Each expert achieved a very high degree of consensus between his refined knowledge sources (i.e., annotated hourly patient records and the rule-set). Further, the consensus between the 2 experts was ~95%. The paper concludes by outlining some of the follow-up studies planned with both INSIGHT and this general approach

    The Shape Interaction Matrix-Based Affine Invariant Mismatch Removal for Partial-Duplicate Image Search

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    Mismatch removal is a key step in many computer vision problems. In this paper, we handle the mismatch removal problem by adopting shape interaction matrix (SIM). Given the homogeneous coordinates of the two corresponding point sets, we first compute the SIMs of the two point sets. Then, we detect the mismatches by picking out the most different entries between the two SIMs. Even under strong affine transformations, outliers, noises, and burstiness, our method can still work well. Actually, this paper is the first non-iterative mismatch removal method that achieves affine invariance. Extensive results on synthetic 2D points matching data sets and real image matching data sets verify the effectiveness, efficiency, and robustness of our method in removing mismatches. Moreover, when applied to partial-duplicate image search, our method reaches higher retrieval precisions with shorter time cost compared with the state-of-the-art geometric verification methods.National Basic Research Program of China (973 Program) [2015CB352502]; National Natural Science Foundation of China [61625301, 61231002]; QualcommSCI(E)ARTICLE2561-5732
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