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.     

The impact of institutional factors on the performance of genuine savings

This study investigates institutional factors affecting the performance of genuine savings (GS), which are often used in assessing sustainable development, and adopts a model of autoregressive conditional heteroscedasticity in mean. We pay particular attention to the contribution of institutions to decrease the volatility level of the GS path. The estimation results show that there are two ways in which institutions affect GS performance. First, high quality of institutions enhances the GS level directly. Second, high quality of institutions enhances the GS level via stabilizing the volatility of the GS path. Considering both effects in their totality, institutional improvement plays an important role in realizing a sustainable development path.     

More asymmetric tree competition brings about more evapotranspiration and less runoff from the forest ecosystems: A simulation study

The present paper reports how stand size-structure dynamics due to competition between different-sized trees affect long-term forested water balance in Japanese cool-temperate planted stands (evergreen coniferous Cryptomeria japonica and deciduous coniferous Larix kaempferi stands) using a fully coupled multi-layered meteorological surface physics—terrestrial ecosystems model. The simulation captured the well-known annual variation in leaf area index (LAI) accurately with stand age in monocultured and even-aged stands; the occurrence of maximum LAI during the early growth stage and then a gradual decline followed by a steady state after the maximum LAI. The simulations also detected a high dependency of annual evapotranspiration (AETr) on LAI with stand age that is well known by prior observational researches. In the C. japonica (shade-tolerant late-successional species) stand, the relationship between annual net primary productivity of an individual tree (NPP_ind) and individual tree mass (w) changed from linear to a convex curve during self-thinning, indicating that the degree of asymmetric tree competition intensified with forest stand development. The higher degree of competitive asymmetry characterized by the convex-shaped NPPind-w relationship produced greater size inequality, i.e., the formation of trees stratified by height. Under such conditions, AETr and annual transpiration (ATr) were mainly regulated by larger trees. On the other hand, the NPPind-w relationships in the L. kaempferi (shade-intolerant early-successional species) stand were linear throughout the simulated period, indicating the lower degree of competitive asymmetry. Under such conditions, the growth of intermediate-sized trees was enhanced and these trees became a dominant source of AETr (and also ATr) during self-thinning. Furthermore, the sensitivity analysis of the effects of ecophysiological parameters such as foliage profile (i.e., vertical distribution of leaf area density) of an individual tree (distribution pattern is described by the parameter η), the maximum carboxylation velocity (V_cmax0) and biomass allocation pattern of individual plant growth (μ₁) on AETr, ATr and annual runoff (AR_off) showed that the temporal trends of AETr, ATr, AR_off and NPPind-w relationships were completely the same as those in the control simulations. However, the NPPind-w relationship during self-thinning indicated higher degrees of competitive asymmetry when η or V_cmax0 were greater than those in the control simulation and generated greater AETr and ATr and thus smaller AR_off. We found that more asymmetric tree competition brings about greater size inequality between different-sized trees and thus more evapotranspiration and less runoff in a forest stand. Overall, our simulation approach revealed that not only LAI dynamics but also plant competition, and thus size-structure dynamics, in a forest ecosystem are essential to long-term future projections of forested water balance.     

Seasonal and diurnal presence of finless porpoises at a corridor to the ocean from their habitat

A number of local populations of finless porpoises (Neophocaena phocaenoides) are widely distributed throughout the warm coastal waters of Asia. The Omura Bay population, consisting of approximately 300 individuals, is the smallest of five populations inhabiting Japanese waters. It is a relatively new population that established after the global warming that took place approximately 9000 years ago. To observe whether these porpoises appear in the major corridor to the ocean from Omura Bay, we used acoustic monitoring to record occurrences of finless porpoises from November 2007 to May 2009. A stereo acoustic event recorder recorded the intensity and the sound source direction of biosonar signals, providing independent traces of sound sources corresponding to each detected animal. A total of 226 individuals were detected over the 1.5-year monitoring period, of which 76% occurred at night and 73% occurred during March and April. We compared the presence of porpoises to the Japanese anchovy catch in Omura Bay and the Hario Strait over the same period. Results suggested that possible reductions in anchovy resources in the bay could attract porpoises to the outside of their normal habitat. In total, 70% of the porpoise recordings took place when the tidal current was moving out of Omura Bay. Porpoises might follow the prey that are transported out of the bay due to the strong outbound current. The finless porpoises confined to the bay might extend their swimming area if prey is available.