Widespread modulation of gene expression by copy number variation in skeletal muscle

Copy number variation (CNV) is a frequently observed deviation from the diploid state due to duplication or deletion of genomic regions. Although intensively analyzed for association with diseases and production traits, the specific mechanisms and extent by which such variations affect the phenotype are incompletely understood. We present an integrative study on CNV and genome-wide gene expression in Brazilian Bos indicus cattle. We analyzed CNVs inferred from SNP-chip data for effects on gene expression measured with RNA-seq in skeletal muscle samples of 183 steers. Local effects, where expression changes coincided with CNVs in the respective genes, were restricted to immune genes. Distal effects were attributable to several high-impact CNVs that modulated remote expression in an orchestrated and intertwined fashion. These CNVs were located in the vicinity of major skeletal muscle pathway regulators and associated genes were enriched for proteolysis, autophagy, and muscle structure development. From association analysis between CNVs and several meat quality and production traits, we found CNV-associated expression effects to also manifest at the phenotype level. Based on genome sequences of the population founders, we further demonstrate that CNVs with impact on expression and phenotype are passed on from one generation to another

Dissection of genetic factors modulating fetal growth in cattle indicates a substantial role of the non-SMC condensin I complex, subunit G (NCAPG) gene.

The increasing evidence of fetal developmental effects on postnatal life, the Still unknown fetal growth mechanisms impairing offspring generated by somatic nuclear transfer techniques, and the impact on stillbirth and dystocia in conventional reproduction have generated increasing attention toward mammalian fetal growth. We identified a highly significant quantitative trait locus (QTL) affecting fetal growth on bovine chromosome 6 in a specific resource Population, which was set tip by consistent rise of embryo transfer and foster mothers and, thus, enabled dissection of fetal-specific genetic components of fetal growth. Merging our data with results from other cattle populations differing in historical and geographical origin and with comparative data from human whole-genome association mapping suggests that a nonsynonymous polymorphism in the non-SMC condensin I complex, Subunit G (NCAPG) gene, NCAPG c.1326T>G, is the potential cause of tire identified QTL resulting in divergent bovine fetal growth. NCAPG gene expression data in fetal placentomes with different NCAPG c.1326T>G genotypes, which are in line with recent results about differential NCAPG expression in placentomes from studies on assisted reproduction techniques, indicate that the NCAPG locus may give valuable information on the specific mechanisms regulating fetal growth in mammals

Metabolomic profiles indicate distinct physiological pathways affected by two loci with major divergent effect on Bos taurus growth and lipid deposition.

Identifying trait-associated genetic variation offers new prospects to reveal novel physiological pathways modulating complex traits. Taking advantage of a unique animal model, we identified the I442M mutation in the non-SMC condensin I complex, subunit G (NCAPG) gene and the Q204X mutation in the growth differentiation factor 8 (GDF8) gene as substantial modulators of pre- and/or postnatal growth in cattle. In a combined metabolomic and genotype association approach, which is the first respective study in livestock, we surveyed the specific physiological background of the effects of both loci on body-mass gain and lipid deposition. Our data provided confirming evidence from two historically and geographically distant cattle populations that the onset of puberty is the key interval of divergent growth. The locus-specific metabolic patterns obtained from monitoring 201 plasma metabolites at puberty mirror the particular NCAPG I442M and GDF8 Q204X effects and represent biosignatures of divergent physiological pathways potentially modulating effects on proportional and disproportional growth, respectively. While the NCAPG I442M mutation affected the arginine metabolism, the 204X allele in the GDF8 gene predominantly raised the carnitine level and had concordant effects on glycerophosphatidylcholines and sphingomyelins. Our study provides a conclusive link between the well-described growth-regulating functions of arginine metabolism and the previously unknown specific physiological role of the NCAPG protein in mammalian metabolism. Owing to the confirmed effect of the NCAPG/LCORL locus on human height in genome-wide association studies, the results obtained for bovine NCAPG might add valuable, comparative information on the physiological background of genetically determined divergent mammalian growth

Semivolatile and volatile compounds from the pyrolysis and combustion of polyvinyl chloride

Emissions evolved from the pyrolysis and combustion of polyvinyl chloride (PVC) were studied at four different temperatures (500, 700, 850 and 1000 °C) in a horizontal laboratory tubular quartz reactor in order to analyse the influence of both temperature and reaction atmosphere on the final products from thermal and oxidative reactions. It was observed that the CO2/CO ratio increased with temperature. Methane was the only light hydrocarbon whose yield increased with temperature up to 1000 °C. Benzene was rather stable at high temperatures, but in general, combustion at temperatures above 500 °C was enough to destroy light hydrocarbons. Semivolatile hydrocarbons were collected in XAD-2 resin and more than 160 compounds were detected. Trends on polyaromatic hydrocarbon (PAH) yields showed that most had a maximum at 850 °C in pyrolysis, but naphthalene at 700 °C. Formation of chlorinated aromatics was detected. A detailed analysis of all isomers of chlorobenzenes and chlorophenols was performed. Both of them reached higher total yields in combustion runs, the first ones having a maximum at 700 °C and the latter at 500 °C. Pyrolysis and combustion runs at 850 °C were conducted to study the formation of polychlorodibenzo- p-dioxins (PCDDs) and polychlorodibenzofurans (PCDFs). There was more than 20-fold increase in total yields from pyrolysis to combustion, and PCDF yields represented in each case about 10 times PCDD yields.Support for this work was provided by Ministerio de Educación y Ciencia of Spain and research projects PPQ2002-00567 and PPQ2002-10548-E

PCBs and PCDD/DFs in waste oil illegally dumped and neglected for more than 20 years.

Quantification of polychlorinated biphenyls (PCBs), polychlorinated-dibenzo-p-dioxins (PCDDs) and polychlorinated dibenzofurans (PCDFs) in waste oil by high resolution gas chromatography-high resolution mass spectrometry (HRGC-HRMS), and profiling of their congeners and homologues were described. Waste oil packed in drums which were estimated to have been exposed to the weather for more than 20 years were found by the illegal dumping patrol in 2006. PCBs were detected in all of 12 waste oil samples examined, with concentrations in the range of 0.0032-22 microg/g. The main pollution sources of the waste oil samples were presumed to be KC300, KC400 and/or KC500 by principal component analysis (PCA) and a chemical mass balance (CMB) method. The concentrations of PCDDs and PCDFs (PCDD/DFs) in the illegally dumped waste oil ranged from 1.1 to 360 pg/g and 1.3 to 110 pg/g, respectively. The ratios of toxicity equivalency quantity (TEQ) of PCDDs and PCDFs to Co-PCBs were lower than those of Yusho rice oil. Consequently, it was determined that even after 20 years of exposure to the weather, no PCB denaturation occurred. However, it was confirmed that low-chlorinated biphenyls in corroded drums would have evaporated into the atmosphere.This is an electronic version of an article published in Journal of Environmental Science and Health - Part A Toxic/Hazardous Substances and Environmental Engineering, 44(7), pp.654-660; 2009. Journal of Environmental Science and Health - Part A is available online at: http://www.informaworld.com with the open URL of your article (http://www.informaworld.com/openurl?genre=article&issn=1093-4529&volume=44&issue=7&spage=654)