Characterization of maspardin, responsible for human Mast syndrome, in an insect species and analysis of its evolution in metazoans

Mast syndrome is a complicated form of human hereditary spastic paraplegias, caused by a mutation in the gene acid cluster protein 33, which encodes a protein designated as “maspardin.” Maspardin presents similarity to the α/β-hydrolase superfamily, but might lack enzymatic activity and rather be involved in protein–protein interactions. Association with the vesicles of the endosomal network also suggested that maspardin may be involved in the sorting and/or trafficking of molecules in the endosomal pathway, a crucial process for maintenance of neuron health. Despite a high conservation in living organisms, studies of maspardin in other animal species than mammals were lacking. In the cotton armyworm Spodoptera littoralis, an insect pest model, analysis of an expressed sequence tag collection from antenna, the olfactory organ, has allowed identifying a maspardin homolog (SlMasp). We have investigated SlMasp tissue distribution and temporal expression by PCR and in situ hybridization techniques. Noteworthy, we found that maspardin was highly expressed in antennae and associated with the structures specialized in odorant detection. We have, in addition, identified maspardin sequences in numerous “nonmammalian” species and described here their phylogenetic analysis in the context of metazoan diversity. We observed a strong conservation of maspardin in metazoans, with surprisingly two independent losses of this gene in two relatively distant ecdysozoan taxa that include major model organisms, i.e., dipterans and nematodes.     

A new report of mesomelic camptomelia,polydactyly and Dandy–Walker complex in siblings

Two male siblings with several malformations are reported. The anomalies detected in both fetuses were mesomelic camptomelia, postaxial hexadactyly and Dandy–Walker complex. There was only one similar previous report in the literature. This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern. Copyright © 2003 John Wiley & Sons, Ltd.     

Advisory Committee: A Powerful Tool for Helping Decision Makers in Environmental Issues

/ It has been suggested that the general public should be moreinvolved in environmental policy and decision making. It is important forthem to realize that they will have to live with the consequences ofenvironmental policies and decisions. Consequently, policy makers shouldconsider the concerns and opinions of the general public before makingdecisions on environmental issues. This raises questions such as: How can weintegrate the perceptions and reactions of the general population inenvironmental decisions? What kind of public participation should weconsider? In the present study, using a new regional ecosystem model, weattempted to integrate these aspects in its decision making model byincluding the formation of an advisory committee to resolve problems relatedto waste management. The advisory committee requested the activeparticipation of representatives from all levels of the community: economic,municipal, and governmental intervenors; environmental groups; and citizens.Their mandates were to examine different management strategies available inthe region, considering all the interdisciplinary aspects of each strategy,elaborate recommendations concerning the management strategies that are mostsuitable for all, and collaborate in communication of the information to thegeneral population. The results showed that at least in small municipalitiessuch an advisory committee can be a powerful tool in environmental decisionmaking. Conditions required for a successful consultation process, such aseveryday lay language and the presence of a facilitator other than ascientific expert, are discussed.KEY WORDS: Public consultation; Environmental policies;Interdisciplinary aspects; Municipal sewage sludge management; Generalpopulation; Decision-making process     

Structural chromosomal mosaicism and prenatal diagnosis

True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low-set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed. Copyright © 2004 John Wiley & Sons, Ltd.     

Metals and selenium in wild animals from Norwegian areas close to Russian nickel smelters

This paper reports the concentrations of metals (Al, As, Cd, Cr, Cu, Hg, Ni, Pb, and/or Zn) and selenium (Se) in kidney and/or liver samples from capercaillie (Tetrao urogallus), willow ptarmigan (Lagopus lagopus), hares (Lepus timidus), common shrews (Sorex araneus) and grey-sided voles (Clethrionomus rufocanus) from the Norwegian areas most heavily contaminated by pollutants from the Russian smelters on the Kola peninsula. In addition to comparing areas that differed in expected pollution rate within Sør-Varanger, comparisons are drawn with reference data from other parts of Norway. The relatively highest levels of metals were found for Cu and Ni in the sub-area most heavily exposed to pollution from the smelters. Also the highest Cr concentrations were found in the areas closest to the smelters. In this study, there is evidence for a direct link between increased metal concentrations in wild animals and pollution from the Russian smelters for Cu and Ni and to some extent for Cr. relatively high concentration of Hg and slight increases in Pb are also documented, but regional differences within Sør-Varanger indicate no direct relationship to the Russian smelters. No samples showed concentrations of any of the analysed metals in excess of the limits where negative effects on animals can be measured.     

Three Different Topics for Bioremediation Application on Soils and Waters Contaminated with Aromatic Compounds, by Using Immobilized Bacteria

Molecular techniques and modelling are presented as powerful tools required in the performance of efficient soil and water bioremediation systems. An Escherichia coli CC118-D strain was constructed by inserting the Klebsiella pneumoniae hpa B gene, coding for the unstable 3,4-dihydroxyphenylacetate 2,3-dioxygenase, into its chromosome. When the constructed strain was immobilized, both enzyme stability and viability increased along the studied period, in absence of antibiotic. We proposed this strategy as an approach to overcoming plasmid instability and to enhance enzyme activity and stability, avoiding antibiotic utilization. A model was developed to understand and predict the behaviour of bacteria and pollutants in a bioreactor system, considering: fluid dynamics, molecular/cellular scale processes and biofilm formation.     

Impact d'une pollution d'origine urbaine sur les activités enzymatiques de deux copépodes planctoniques (Acartia clausi et Centropages typicus)

The effect of urban pollution on the enzymatic activities of two copepod species, Acartia clausi and Centropages typicus, was studied in the Marseille area (main sewage output of Cortiou) from May 1980 through June 1981. By means of electrophoresis on polyacrylamide gel, we studied activities of esterases, leucine aminopeptidase (LAP), malate dehydrogenase (MDH) and malic enzyme (ME). The results are based on 124 analyses of A. clausi and 127 of C. typicus. The zymograms revealed important changes in enzyme activities connected with pollution which were either qualitative or quantitative in nature; the most distinct and frequent changes were displayed by the esterases, whose general activity considerably decreased at the most polluted stations; also, the relative activity of the different esterase fractions changed, and certain fractions did not appear at all. Leucine aminopeptidase zymograms displayed little change; those of MDH and ME often exhibited an additional fraction in the polluted area. The results clearly show the impact of urban pollution at the enzymatic level. The changes appear to be a physiological response of the organisms to environmental conditions, and demonstrate the profound effects that an ecological perturbation can have on the physiology of organisms.     

Specialization of the entomopathogenic nematode Steinernema scapterisci with its mutualistic Xenorhabdus symbiont

The level of specialization of the entomopathogenic nematode Steinernema scapterisci with its native Xenorhabdus symbiont was investigated by testing (1) the influence of non-native bacterial strains on nematode fitness within an insect-host (Galleria mellonella) and (2) specificity of the association between the nematode infective juveniles and non-native bacteria. All non-native Xenorhabdus spp. or Photorhabdus spp. strains tested were mutualistically associated with other entomopathogenic nematodes in nature. We showed that most of the Xenorhabdus spp. strains tested led to an insignificant difference of the nematode's fitness compared to the one obtained with the native bacterium. Conversely, Photorhabdus spp. strains almost entirely abolished nematode reproduction. The phylogenetic analysis of bacterial strains tested, showed that there was a negative correlation between S. scapterisci's reproduction rate with a bacterial strain and the genetic distance of this bacterial strain from the native one. We also showed that the native bacterium was the only one which was transmitted by S. scapterisci's infective juveniles. All these results, suggested a specialization between S. scapterisci and its native Xenorhabdus. As the same phenomenon was already demonstrated in the association between S. carpocapsae and X. nematophila, specialization between partners would not be an exception in entomopathogenic nematode-bacteria interactions. Nevertheless, S. scapterisci showed a dramatically higher compatibility with non-native Xenorhabdus spp. strains than did S. carpocapsae, suggesting differences in the co-evolutionary processes between nematodes and bacteria in these two model systems.Table 1 List of the bacterial strains, native nematode species with their geographical origin, accession numbers of bacterial 16S rDNA partial sequences and number of combination experiments for each bacterium tested

Natural radiation exposure in the Campo Arañuelo region in the surroundings of Almaraz nuclear power station (Spain)

During 1998 regional surveys were conducted to evaluate natural radiation exposure of people in the vicinity of the six Spanish nuclear power stations. Indoor radon, external gamma dose rates outdoors and indoors and radioactivity in soil were measured in these surveys. The highest mean annual effective dose to the population was found in the surroundings of the Almaraz nuclear power plant in the province of Cáceres and was mainly due to the presence of high radon concentrations in homes. In order to make a more accurate assessment of the dose coming from the radon in this area, a new and more extensive surgery on indoor radon with a total of 380 measurements was carried out in 2000 in the Campo Ara?uelo region around the Almaraz nuclear power station. From the results obtained in this survey, a population-weighted mean annual effective dose from radon exposure of 1.7 mSv y(-1), 44% lower than that previously reported in 1998, was estimated for the whole Campo Ara?uelo region. The maximum dose value due to radon exposure, about 4 mSv y(-1), was reached in the so-called La Vera area located in the north of this region. The relationship between the indoor radon concentrates experimentally measured, the geological characteristics of this geographic area and the information provided by the radiation map of the Spanish MARNA Project is also analyzed, confirming that La Vera area should be considered as a high radon level area.