Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease

A submicroscopic genomic duplication in Xq22.2 that contains the entire proteolipid protein 1 gene (PLP1) is responsible for the majority of Pelizaeus–Merzbacher disease (PMD) patients. We previously developed an interphase FISH assay to screen for PLP1 duplications in PMD patients using peripheral blood and lymphoblastoid cell lines. This assay has been utilized as a clinical diagnostic test in our cytogenetics laboratory. To expand usage of the interphase FISH assay to prenatal diagnosis of PLP1 duplications, we examined three PMD families with PLP1 duplications utilizing aminiotic fluid samples. In two families the FISH assay revealed fetuses with PLP1 duplications, whereas the other fetus showed a normal copy number of PLP1. Haplotype analyses, as well as an additional FISH analysis using postnatal blood samples, confirmed the results of the prenatal analyses. Our study demonstrates utility of the interphase FISH assay in the prenatal diagnosis of PLP1 duplications in PMD. Copyright © 2001 John Wiley & Sons, Ltd.     

Studies on the coupling product between oxidation products derived from pentachlorophenol and cyclodextrins

The coupling products (CPs), which were formed via the peroxosulfate catalyzed oxidation of pentachlorophenol (PCP) with iron(III)-tetrakis(sulfonatophenyl)porphyrin (Fe(III)-TPPS) in the presence of hydroxypropyl-beta -cyclodextrin (HP-beta -CD) or HP-gamma -CD, were separated by ultrafiltration from the reaction mixture. When the percentages of chlorine species in the reaction mixture were calculated from the concentrations of organic chlorine in the reaction mixture and CPs, 10-25% of chlorine species in the reaction mixture was organic chlorine that was incorporated into CDs. Analyses of the CPs by pyrolysis-GC/MS (Py-GC/MS) and 13C NMR showed that the PCP-derived products were covalently incorporated into the CDs. To evaluate the acute toxicity of the CPs, a Microtox test was examined. Toxicities of the CPs were reduced slightly, compared to the controls (PCP alone and PCP + reaction blanks). In the reaction blanks, mesaconic acid (MA) moieties were detected as a result of the oxidation of CDs in the absence of PCP. Thus, factors in the toxicities, detected in the CPs, can be attributed to the oxidation products derived from CDs, such as MA, as well as the PCP-derived products incorporated into the CDs.     

Effect of humic acids on the toxicity of pollutants to Chlamydomonas reinhardtii: Investigation by a microscale algal growth inhibition test

Dissolved humic substances (DHSs) are the major components of organic matter in the aquatic environment. DHSs are well known to considerably affect the speciation, solubility, and toxicity of a wide variety of pollutants in the aquatic environment. In this study, the effects of the toxicity of heavy metals and hydrophobic organic pollutants (HOPs) on Chlamydomonas reinhardtii in the presence of humic acid (HA) were examined by a microscale algal growth inhibition (μ-AGI) test based on spectrophotometric detection. To clarify the relationship between the chemical properties of HAs and the toxicity change of pollutants, eight HAs from different sources were prepared and used. HAs were responsible for mitigating the toxicity of Hg, Cu, pesticides (γ-HCH, 2,4-D, and DDT), and polycyclic aromatic hydrocarbons (PAHs) such as naphthalene (Nap), anthracene (Ant), and benzo[a]pyrene (BaP). In particular, an approximately 100-fold decrease in the toxicity of BaP was observed in the presence of 10 ppm HAs extracted from tropical peat. The results indicated that the carboxylic group content and the HA molecular weight are correlated to the changes in the heavy metal toxicity. For HOPs, the aromaticity and polarity of HAs are crucial for mitigating their toxicity. Furthermore, it was clearly shown that the lake water including a high concentration of DHSs collected from Central Kalimantan, Indonesia, reduced the toxicity of Hg and γ-HCH on Chlamydomonas reinhardtii.

Graphical abstract

     

Nutrient dynamics and the eutrophication of shallow lakes Kasumigaura (Japan), Donghu (PR China), and Okeechobee (USA)

We compared the nutrient dynamics of three lakes that have been heavily influenced by point and non-point source pollution and other human activities. The lakes, located in Japan (Lake Kasumigaura), People's Republic of China (Lake Donghu), and the USA (Lake Okeechobee), all are relatively large (> 30 km2), very shallow (< 4 m mean depth), and eutrophic. In all three lakes we found strong interactions among the sediments, water column, and human activities. Important processes affecting nutrient dynamics included nitrogen fixation, light limitation due to resuspended sediments, and intense grazing on algae by cultured fish. As a result of these complex interactions, simple empirical models developed to predict in-lake responses of total phosphorus and algal biomass to external nutrient loads must be used with caution. While published models may provide 'good' results, in terms of model output matching actual data, this may not be due to accurate representation of lake processes in the models. The variable nutrient dynamics that we observed among the three study lakes appears to be typical for shallow lake systems. This indicates that a greater reliance on lake-specific research may be required for effective management, and a lesser role of inter-lake generalization than is possible for deeper, dimictic lake systems. Furthermore, accurate predictions of management impacts in shallow eutrophic lakes may require the use of relatively complex deterministic modeling tools.     

Contamination of butyltin and phenyltin compounds in the marine environment of Otsuchi Bay, Japan

Butyltin (BT) and phenyltin (PT) compounds were measured in seawater, sediment, and biological samples collected from coastal areas of Otsuchi Bay, Japan. Tributyltin (TBT) compounds in seawater, sediment, plankton, mussels, scallops and fish were in the range of 0.008-0.074 microg liter(-1), 0.01-0.64 mg (kg dry wt)(-1), 0.24-9.8 mg (kg dry wt)(-1), 0.04-0.18 mg (kg wet wt)(-1), 0.10-0.13 mg (kg wet wt)(-1) and 0.01-0.02 mg (kg wet wt)(-1), respectively. Trace amount of PTs were found in seawater. The highest concentrations of TBT and triphenyltin (TPT) were found near a shipyard. Triorganotin compounds were more dominant than their metabolites. A positive correlation was observed between the concentrations of TBT and TPT in the mussels. Concentrations of TBT and TPT in mussels were high in the upper intertidal zone, and decreased toward the water.     

Influence of combustion-originated dioxins in atmospheric deposition on water quality of an urban river in Japan

Bulk (wet and dry) deposition samples were collected in Saitama Prefecture, Japan throughout a year (February 8, 2012 to February 7, 2013) to estimate the influence of dioxins emitting from waste incinerators on river water quality. The annual deposition flux of dioxins was 3.3 ng-toxic equivalent (TEQ)/m²/year. Source identification using indicative congeners estimated that 82% of dioxin TEQ in the bulk deposition (2.7 ng-TEQ/m²/year) was combustion-originated, indicating that most of the dioxins in the deposition were derived from waste incinerators. In Saitama prefecture the annual flux of combustion-originated dioxins in depositions was apparently consistent with that of dioxin emission into the air from waste incinerators. The TEQ of combustion-originated dioxins in the deposition per rainfall was 2.4 pg-TEQ/L on annual average, exceeding the environmental quality standard (EQS) for water in Japan of 1 pg-TEQ/L. This suggests there is a possibility that dioxins in atmospheric deposition have a significant influence on the water quality of urban rivers which rainwater directly flows into because of many paved areas in the basins. The influence of combustion-originated dioxin in the deposition on the water quality of Ayase River, an urban river heavily polluted with dioxins, was estimated at 0.29 pg-TEQ/L on annual average in 2015. It seems that dioxins in atmospheric deposition from waste incinerators have a significant influence on water quality of some urban rivers via rainwater though the dioxins in the ambient air have achieved the EQS for atmosphere at all monitoring sites in Japan.     

Recent sedimentary environment of coastal lagoon in southwestern Japan: evidence from major and trace elements

A geochemical study of the bottom sediments of Lake Shinji and the River Ohashi in southwestern Japan was carried out to determine their elemental compositions and to evaluate the pollution status of lake sediments by employing enrichment factor (EF), pollution load index (PLI), and geoaccumulation index (I _geo). Present-day water quality was also assessed. Results showed that the water quality of Lake Shinji contrasts slightly between the upper and lower parts. The chemical composition of the sediments, as measured by X-ray fluorescence, included major and trace elements and total sulfur (TS). Average abundances of As, Pb, Zn, Cu, Ni, and Cr in the Shinji sediments were 10, 29, 143, 27, 19, and 54 ppm, respectively, compared to 6, 18, 57, 16, 10, and 37 ppm in the river sediments. Based on the EF, PLI, and I _geo, the lake sediments are moderately to strongly polluted with respect to As, moderately polluted with Pb, Zn, and Cr, and unpolluted with Cu and Ni. The high EF and I _geo for As, Pb, and Zn in the lake sediments indicate that metal concentration has occurred in Shinji. Increases in the abundances of these metals are likely related to the fine-grained nature of the sediments, reducing conditions of the bottom sediments, enrichment in organic matter, and possibly a minor contribution from non-point anthropogenic sources. Trace metal contents are strongly correlated with Fe₂O₃ and TS, suggesting that Fe oxides and sulfides play a role in controlling abundances in the investigated areas.     

Thermal treatment of rice bran by portion-wise addition in the presence of an organo-iron catalyst

For raw organic wastes (ROWs) that are produced on a daily basis, a thermal treatment using an organo-iron catalyst with the ROW added in portion was examined for conversion to compost-like materials (CLMs). The mixture of initial materials (rice bran as a model ROW, red loam as a bulking agent, and an organo-iron catalyst) was incubated at 60?°C for 5?days. It was then heated at 170?°C for 8?h, and small portions of a mixture of rice bran and catalyst were added. This process was repeated a total of 45 times. The qualities of the CLMs were evaluated, based on the degree of humification of humic-like acids (HLAs) that were contained in the products. Thus, the HLAs were extracted from the prepared CLMs, and the levels of unsaturated carbons and oxygen- and nitrogen-containing compounds were analyzed and used as indices of the degree of humification. The influence of the initial materials on the degree of humification of the HLAs was investigated, and the highest degree of humification was obtained when red loam and the catalyst were both added with the initial materials.     

Wildlife collection for scientific purposes

Illegal transfer of wildlife has 2 main purposes: trade and scientific research. Trade is the most common, whereas scientific research is much less common and unprofitable, yet still important. Biopiracy in science is often neglected despite that many researchers encounter it during their careers. The use of illegally acquired specimens is detected in different research fields, from scientists bioprospecting for new pharmacological substances, to taxonomists working on natural history collections, to researchers working in zoos, aquariums, and botanical gardens. The practice can be due to a lack of knowledge about the permit requirements in different countries or, probably most often, to the generally high level of bureaucracy associated with rule compliance. Significant regulatory filters to avoid biopiracy can be provided by different stakeholders. Natural history collection hosts should adopt strict codes of conduct; editors of scientific publications should require authors to declare that all studied specimens were acquired legally and to cite museum catalog numbers as guarantee of best practices. Scientific societies should actively encourage publication in peer-reviewed journals of work in which specimens collected from the wild were used. The International Commission on Zoological Nomenclature could require newly designated types based on recently collected specimens to be accompanied by statements of deposition in recognized scientific or educational institutions. We also propose the creation of an online platform that gathers information about environmental regulations and permits required for scientific activities in different countries and respective responsible governmental agencies and the simplification of the bureaucracy related to regulating scientific activities. This would make regulations more agile and easier to comply with. The global biodiversity crisis means data need to be collected ever faster, but biopiracy is not the answer and undermines the credibility of science and researchers. It is critical to find a modus vivendi that promotes compliance with regulations and scientific progress.