Prenatal diagnosis of fragile x syndrome: (cgg)n expansion and methylation of chorionic villus samples

Fragile X syndrome is the most common form of inherited mental retardation, due to an expansion of the (CGG)_n trinucleotide repeat in the FMR-1 gene and hypermethylation of its 5′ upstream CpG island. Two major problems remain to be resolved for fragile X prenatal diagnosis: the abnormal methylation patterns of chorionic villus samples (CVS) and the inability to predict the mental status of females with the full mutation. We present here the results of ten prenatal diagnoses of fragile X syndrome using Southern blotting and polymerase chain reaction (PCR) amplification, and the analysis of 50 further CVS to test the methylation status of the CpG island of the FMR-1 gene. In the ten ‘at-risk’ CVS, eight normal (five males and three females) and two affected male fetuses were detected. Absence of methylation in the CVS was observed in two cases, which was not found upon subsequent examination of the newborn or of fetal tissues. In the 50 CVS not ‘at risk’ for fragile X syndrome, abnormal fragment patterns for probe StB12.3 were detected in 32 per cent for female and 24 per cent for male fetuses. This abnormal pattern could be due to absent or partial methylation of the CpG island of the FMR-1 gene in chorionic villus tissues.     

Biosynthetic studies on marking pheromones of bumblebee males

Summary. The biosynthetic pathway of the formation of males'marking pheromones of two bumblebee species, Bombus lucorum and B.lapidarius, was studied for the first time. After applications ofdeuterium labelled palmitic acid ([2H31]-hexadecanoic acid) into eitherthe head capsules or abdomens the corresponding deuterium labelledpheromone components were detected in the labial gland (LG) extracts ofmales of both species. In B. lucorum, ethyl [2H29]-hexadec-9-enoate andethyl [2H31]-hexadecanoate were identified. No deuterium-labelled ethyltetradecenoate, that would correspond to shortening of the carbon chain,was detected. In B. B. lapidarius, [2H31]-hexadecan-1-ol and[2H29]-hexadec-9-en-1-ol were found in the LG. Furthermore, thedeuterium labelled precursor was incorporated into triacylglycerols(TAG) of the fat bodies of males. In vitro incubation of the labialglands of B. lucorum males with deuterium-and 13C-labelled palmiticacid lead to the formation of saturated ethyl esters only.     

Nitrogen inputs promote the spread of an invasive marsh grass.

Excess nutrient loading and large-scale invasion by nonnatives are two of the most pervasive and damaging threats to the biotic and economic integrity of our estuaries. Individually, these are potent forces, but it is important to consider their interactive impacts as well. In this study we investigated the potential limitation of a nonnative intertidal grass, Spartina alterniflora, by nitrogen (N) in estuaries of the western United States. Nitrogen fertilization experiments were conducted in three mud-flat habitats invaded by S. alterniflora in Willapa Bay, Washington, USA, that differed in sediment N. We carried out parallel experiments in San Francisco Bay, California, USA, in three habitats invaded by hybrid Spartina (S. alterniflora x S. foliosa), in previously unvegetated mud flat, and in native S. foliosa or Salicornia virginica marshes. We found similar aboveground biomass and growth rates between habitats and estuaries, but end-of-season belowground biomass was nearly five times greater in San Francisco Bay than in Willapa Bay. In Willapa Bay, aboveground biomass was significantly correlated with sediment N content. Addition of N significantly increased aboveground biomass, stem density, and the rate of spread into uninvaded habitat (as new stems per day) in virtually all habitats in both estuaries. Belowground biomass increased in Willapa Bay only, suggesting that belowground biomass is not N limited in San Francisco Bay due to species differences, N availability, or a latitudinal difference in the response of Spartina to N additions. The relative impact of added N was greater in Willapa Bay, the estuary with lower N inputs from the watershed, than in San Francisco Bay, a highly eutrophic estuary. Nitrogen fertilization also altered the competitive interaction between hybrid Spartina and Salicornia virginica in San Francisco Bay by increasing the density and biomass of the invader and decreasing the density of the native. There was no significant effect of N on the native, Spartina foliosa. Our results indicate that excess N loading to these ecosystems enhances the vulnerability of intertidal habitats to rapid invasion by nonnative Spartina sp.     

Why do honey bees dance?

The honey bee dance language, used to recruit nestmates to food sources, is regarded by many as one of the most intriguing communication systems in animals. What were the ecological circumstances that favoured its evolution? We examined this question by creating experimental phenotypes in which the location information of the dances was obscured. Surprisingly, in two temperate habitats, these colonies performed only insignificantly worse than colonies which were able to communicate normally. However, foraging efficiency was substantially impaired in an Asian tropical forest following this manipulation. This indicates that dance language communication about food source locations may be important in some habitats, but not in others. Combining published data and our own, we assessed the clustering of bee forage sites in a variety of habitats by evaluating the bees’ dances. We found that the indicated sites are more clustered in tropical than in temperate habitats. This supports the hypothesis that in the context of foraging, the dance language is an adaptation to the particular habitats in which the honey bees evolved. We discuss our findings in relation to spatial aggregation patterns of floral food in temperate and tropical habitats.     

Short-term effects of environmental factors on the asexual reproduction of Aurelia sp. polyps

ABSTRACT

Aurelia is a jellyfish genus common in coastal and estuarine habitats, that are typically affected by human pressures such as heavy metals contamination. Mercury is one of the most dangerous due to its high toxicity, persistence and bioaccumulation. In this paper, we tested for the first time the independent and combined effects of a level of mercury allowable by European regulation in force and hyposalinity on the asexual reproduction of Aurelia sp. polyps, mirroring a realistic scenario. Both mercury (0.07?µg/L, Maximum Allowable Concentration) and salinity (18 and 23 PSU) and the combination of the two factors stimulated the asexual reproduction increasing the number of polyps and buds during the 41 days of experiments. The increment of the asexual reproduction and the absence of suffering and mortality suggest that levels of mercury below the concentration fixed by the law and hyposalinity conditions could promote jellyfish proliferations, according to the hormesis hypothesis.     

Temporal changes in the fluoride levels of jaws of European deer in industrial regions of Western Pomerania,Poland

The factories processing natural phosphates and apatites in Poland release into the atmosphere considerable amounts of fluorine compounds. Fluoride is known to accumulate in the hard tissues of animals and humans. This paper describes the determination of fluoride in mandibles of deer in the years 1982 and 1990. In recent years, the establishments have restricted their output and modernized the technology of phosphate fertilizer production. The fluoride content in jaws has decreased, particularly in those animals having their habitat in the vicinity of the two factories.