Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis

We report a Japanese boy who died at Day 28 of life because of severe carbamoyl phosphate synthetase I (CPS1) deficiency that was proven by enzyme assay. By analysis of cDNA and genomic DNA, he was shown to be a compound heterozygote with two point mutations of the CPS1 gene, 840G>C leading to an aberrant splicing and 1123C>T (predicting Q375X). The 840G>C was a mutation described in another Japanese family. Since his parents carried each mutation heterozygously, we performed prenatal diagnosis at 16 weeks of his mother's next gestation by multiplex PCR and melting curve analysis in a single capillary containing two-color fluorescent (LC-Red 640 and LC-Red 705) probes on LightCycler. We analyzed genomic DNA extracted from amniotic cells and found that the fetus was homozygous for the wild-type alleles. At term a healthy girl was born without hyperammonemia. Copyright © 2001 John Wiley & Sons, Ltd.     

Trace element accumulation in Baikal seal (Phoca sibirica) from the Lake Baikal

Trace element concentrations (Fe, Mn, Zn, Cu, Pb, Ni, Cd, Co and Hg) were determined in 60 Baikal seals and in fishes collected from Lake Baikal in 1992. Low levels of Hg and Cd were found in Baikal seals in comparison with those of marine mammals and it was due to their low concentrations in dietary fish. These results suggest that pollution by Hg and Cd was low in Lake Baikal and these toxic elements were unlikely to be the causative factors for mass mortality of Baikal seal in 1987-1988. Significant correlation of Hg concentration between hair and internal tissues suggested the use of hair for Hg monitoring in pinnipeds. Among essential elements, higher Fe and lower Cu levels were specifically found in the liver of Baikal seal. The noticeable accumulation of essential elements might be related to the unique and specific environment of Lake Baikal.     

PSA application for a PCB detoxification plant

 Polychlorinated biphenyls (PCBs), a type of persistent organic pollutants (POPs), are considered to be endocrine disrupters. According to the Stockholm Convention on POPs, PCB detoxification is being accelerated globally. We have developed an environmentally sound chemical PCB detoxification plant using the ultraviolet ray/catalyst method. The purpose of this paper is to check the design methodology for the PCB detoxification plant by the application of probabilistic safety analysis. First, possible hazardous events were determined; second, the weakest points in these hazardous events were established; and third, the impact when failures arise at the weak points in the system were studied. We clarified the preventive measures as follows. To prevent PCBs leaking into the environment, select leak-tight valves for the piping containing PCBs, and reduce the number of valves. To prevent fire or explosions due to leaks of an inflammable mixture, select leak-tight valves, reduce the number of valves installed in the piping, and improve the reliability of the suppression tank in the isopropyl alcohol (IPA) recovery unit. Received: February 27, 2001 / Accepted: June 17, 2002     

Comparisons of genetic population structures in four intertidal brachyuran species of contrasting habitat characteristics

Genetic population structures along the Japanese coast, analyzed by sequence data from the mitochondrial DNA COI region, were determined for four intertidal brachyuran species in the superfamily Thoracotremata (Ocypode ceratophthalma, Gaetice depressus, Chiromantes dehaani and Deiratonotus japonicus), which were characterized by different habitat requirements. O. ceratophthalma (seashore; supratidal sand) and C. dehaani (estuarine; supratidal marsh) showed no significant genetic differentiation among Japanese populations. The Japanese populations of O. ceratophthalma, however, were found to genetically differentiated from the Philippine population. G. depressus (seashore; intertidal cobbles) exhibited significant genetic differentiation between the Amami-Ohshima population and other local populations. D. japonicus (estuarine; intertidal cobbles) showed significant genetic differentiation among many local populations separated by about 30–1,200 km. The different patterns of genetic population structure recorded for the four species, thus, do not simply correspond to habitat type. An erratum to this article can be found at     

Spatial variability in habitat associations of pre- and post-settlement stages of coral reef fishes at Ishigaki Island,Japan

Successful settlement of pelagic fish larvae into benthic juvenile habitats may be enhanced by a shortened settlement period, since it limits larval exposure to predation in the new habitat. Because the spatial distribution of marine fish larvae immediately prior to settlement versus during settlement was unknown, field experiments were conducted at Ishigaki Island (Japan) using light trap sampling and underwater visual belt transect surveys to investigate the spatial distribution patterns of selected pre- and post-settlement fishes (Acanthuridae, Pomacentridae, Chaetodonidae and Lethrinidae) among four habitats (seagrass bed, coral rubble, branching coral and tabular coral). The results highlighted two patterns: patterns 1, pre- and post-settlement individuals showing a ubiquitous distribution among the four habitats (Acanthuridae) and pattern 2, pre-settlement individuals distributed in all habitats, but post-settlement individuals restricted to coral (most species of Pomacentridae and Chaetodontidae) or seagrass habitats (Lethrinidae). The first pattern minimizes the transition time between the larval pelagic stage and acquisition of a benthic reef habitat, the latter leading immediately to a juvenile lifestyle. In contrast, the second pattern is characterized by high settlement habitat selectivity by larvae and/or differential mortality immediately after settlement.     

Relationship of PCDD/F and Co-PCB concentrations in breast milk with infant birthweights in Tokyo, Japan

OBJECTIVE: To observe how PCDD/F and Co-PCB concentrations in breast milk relate to infant birthweights in Tokyo, Japan. STUDY DESIGN: Breast milk samples were collected from 240 mothers (aged 25-34years old) residing in Tokyo to measure the concentrations of polychlorinated dibenzo-p-dioxins (PCDDs; 14 congeners), polychlorinated dibenzofurans (PCDFs; 15 congeners), and coplanar polychlorinated biphenyls (Co-PCBs; 12 congeners) in the breast milk fat. Individual milk samples (about 50ml) were obtained 30days after delivery, between the months of June and September in 1999 and 2000. The relationship of the infant birthweights with the PCDD/F and Co-PCB concentrations was observed. RESULTS: The birthweights were negatively correlated the concentrations of many of the PCDD/F and Co-PCB congeners, with the mean toxic equivalent quantities (TEQs) of the Co-PCBs, and with the sum of the PCDD, PCDF and Co-PCBs, although their correlation coefficients were less than 0.200. Multiple regression analysis showed octachlorodioxin was statistically significant explanatory variate. CONCLUSIONS: There were slight relationship between the dioxins levels of breast milk and the birthweights of the infants.     

Combustible and incombustible speciation of Cl and S in various components of municipal solid waste

Chlorine (Cl) and sulfur (S) in municipal solid waste (MSW) are important reactive elements during combustion. They generate the acidic pollutants HCl and SOx, and, furthermore, produce and suppress organic chlorinated compounds. Nevertheless, few practical reports about Cl and S content in MSW have been published. In combustion and recycling processes, both combustible Cl and S, and incombustible Cl and S species are equally important. This paper presents the results of a comprehensive study about combustible and incombustible Cl and S in MSW components, including kitchen garbage, paper, textiles, wood and leaves, plastics and small chips. By integrating this collected data with data about MSW composition, not only the overall content of Cl and S in MSW, but also the origins of both combustible and incombustible Cl and S were estimated. The average Cl content in bulk MSW was 3.7 g/kg of raw MSW, of which 2.7 and 1.0 g/kg were combustible and incombustible, respectively. The Cl contribution from plastics was 76% and 27% with respect to combustible and incombustible states. The average S content in bulk MSW was 0.81 g/kg of raw MSW, of which 0.46 g/kg was combustible and 0.35 g/kg was incombustible. Combustible S was mainly due to synthetic textiles, while incombustible S was primarily from paper.     

Shedding of gametes in the compound ascidian Botryllus primigenus

The shedding of gametes of Botryllus primigenus Oka occurs in the natural environment early in the morning, about 1 h after dawn. The shedding of the sperm from a testis is completed within a few seconds. All the spermatozoa in a testis are released at once. Ovulation begins about 10 min after shedding of sperm and is completed in about 1 min. In general, combinative testes, i.e., testes accompanied by egg follicles, macure first, followed by egg follicles, solitary testes located on the left side of the zooid, and finally those on the right side, in that order. As a result, a population of zooids of the same generation in a colony sheds sperm on 2 or 3 successive days. Illumination preceded by darkness effectively induces shedding of gametes experimentally. The required minimum dark-adaptation period is 40 min; the required minimum illumination period is dependent on light-intensity, 8, 4 and 1 min being required at 70, 200 and 3,000 lux, respectively; the latent period is temperature-dependent, 100 to 130, 70 to 90 and 50 to 60 min being required at 21^o, 26^o and 27.5°C, respectively. An experiment in which only part of the colony was illuminated clearly indicated that each zooid responds to light-stimulus independently.Contribution No. 306 from the Shimoda Marine Research Center, University of Tsukuba, Japan.