Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism

We report a case of maternal uniparental disomy of chromosome 10 discovered after chorionic villus sampling (CVS). Direct preparations revealed mosaic trisomy 10, while cultured CVS cells, as well as amniotic fluid cells, showed only a normal 46,XY complement. DNA analysis using microsatellite markers showed both chromosomes 10 to have been inherited from the mother. The pregnancy was complicated by polyhydramnios. A phenotypically normal male infant of appropriate size was delivered by Caesarean section at 41 weeks' gestation. Since only the direct preparations showed trisomy 10, this case illustrates the importance of CVS direct preparations in the detection of pregnancies at risk of uniparental disomy (UPD). Although the increased frequency of confined placental mosaicism (CPM) diagnosed when direct preparations are performed has been viewed negatively, identification of both CPM and UPD may have biological and clinical significance for a pregnancy. Even though only a single case of maternal disomy 10 is reported here, the apparently normal phenotype provides evidence that there are no major imprinted loci on chromosome 10 that affect in utero growth and development. However, other potential effects such as mental retardation will require long-term follow-up of this as well as additional cases.     

Fetal liver alanine: Glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1

Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the hepatic peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT, EC 2.6.1.44) (Danpure and Jennings, FEBS Lett., 201 , 20–24, 1986). The activity of AGT has been measured in fetal livers of gestational age 14–21 weeks. Activity increases up to 17 weeks and then levels off between 17 and 21 weeks. At this time, the mean AGT activity is about 30 per cent of the mean normal postnatal level. As in adult liver, the AGT enzyme activity and the AGT immunoreactive protein are peroxisomal. Prenatal diagnosis has been performed by measuring AGT enzyme activity and immunoreactive AGT protein on liver biopsies from two fetuses at risk for primary hyperoxaluria type 1. One was unaffected and one was affected.     

Metabolism of pyrene by two clam species,Mya arenaria and Protothaca staminea

Two species of marine clam, Mya arenaria and Protothaca staminea, were exposed to pyrene and 1-hydroxypyrene in small glass aquaria. After 10 days of exposure the clams were sacrificed, and both clam tissue and seawater were assayed for pyrene metabolites by using HPLC, fluorescence spectroscopy, HPLC-ESI-MS, GC-MS and 1H-NMR spectrometry. 1-Pyrenol-1-hydrogensulfate (pyrene-1-sulfate) was identified as the major water soluble metabolite formed from both pyrene and 1-hydroxypyrene by both species of clam. 1-Hydroxypyrene was identified as a minor metabolite of pyrene, and pyrenediol-hydrogen sulfate was identified as a minor metabolite of 1-hydroxypyrene.     

The impact of a building implosion on airborne particulate matter in an urban community

In response to community concerns, the air quality impact of imploding a 22-story building in east Baltimore, MD, was studied. Time- and space-resolved concentrations of indoor and outdoor particulate matter (PM) (nominally 0.5-10 microm) were measured using a portable nephelometer at seven and four locations, respectively. PM10 levels varied in time and space; there was no measurable effect observed upwind of the implosion. The downwind peak PM10 levels varied with distance (54,000-589 microg/m3) exceeding pre-implosion levels for sites 100 and 1130 m 3000- and 20-fold, respectively. Estimated outdoor 24-hr integrated mass concentrations varied from 15 to 72 microg/m3. The implosion did not result in the U.S. Environmental Protection Agency (EPA) National Ambient Air Quality Standard (NAAQS) for PM10 being exceeded. X-ray fluorescence analysis indicated that the elemental composition was dominated by crustal elements: calcium (57%), silicon (23%), aluminum (7.6%), and iron (6.1%). Lead was above background but at a low level (0.17 microg/m3). Peak PM10 concentrations were short-lived; most sites returned to background within 15 min. No increase in indoor PM10 was observed even at the most proximate 250 m location. These results demonstrate that a building implosion can have a severe but short-lived impact on community air quality. Effective protection is offered by being indoors or upwind.     

Spatial and temporal patterns of seed dispersal: an important determinant of grassland invasion.

We measured spatial and temporal patterns of seed dispersal and seedling recruitment for 58 species in a grassland community to test whether seed dispersal could predict patterns of invasion after disturbance. For the 12 most abundant grasses, recruitment of native species was dependent on the propagule supply of both native and exotic species. Variability in seed rain on small spatial (1-10 m) and temporal (within season) scales led to qualitative differences in the outcome of disturbance colonization such that native species dominated disturbances when exotic seed supply was low but failed to establish when exotic seed supply was high. Local dispersal and spatial heterogeneity in species composition promoted coexistence of native and exotic species by creating refuges from high exotic seed supply within native dominated patches. Despite this, copious exotic seed production strongly limited recruitment of native species in exotic dominated patches. Most grasslands in California are presently dominated by exotic species, suggesting that competition at the seedling stage is a major barrier to native species restoration.     

Recycling greenhouse gas fossil fuel emissions into low radiocarbon food products to reduce human genetic damage

Radiocarbon from nuclear fallout is a known health risk. However, corresponding risks from natural background radiocarbon incorporated directly into human genetic material have not been fully appreciated. Here we show that the average person will experience between 3.4 × 10¹⁰ and 3.4 × 10¹¹ lifetime chromosomal damage events from natural background radiocarbon incorporated into DNA and histones, potentially leading to cancer, birth defects, or accelerated aging. This human genetic damage can be significantly reduced using low radiocarbon foods produced by growing plants in CO₂ recycled from ordinary industrial greenhouse gas fossil fuel emissions, providing additional incentive for the carbon sequestration.     

Linking abundance and diversity of sponge-associated microbial communities to metabolic differences in host sponges

Many sponge species contain large and diverse communities of microorganisms. Some of these microbes are suggested to be in a mutualistic interaction with their host sponges, but there is little evidence to support these hypotheses. Stable nitrogen isotope ratios of sponges in the Key Largo, Florida (USA) area grouped sponges into species with relatively low δ¹⁵N ratios and species with relatively high δ¹⁵N ratios. Using samples collected in June 2002 from Three Sisters Reef and Conch Reef in the Key Largo, Florida area, transmission electron microscopy (TEM) and denaturing gradient gel electrophoresis were performed on tissues of the sponges Ircinia felix and Aplysina cauliformis, which are in the low δ¹⁵N group, and on tissue of the sponge Niphates erecta, which is in the high δ¹⁵N group. Results showed that I. felix and A. cauliformis have large and diverse microbial communities, while N. erecta has a low biomass of one bacterial strain. As the low δ¹⁵N ratios indicated a microbial input of nitrogen, these results suggested that I. felix and A. cauliformis were receiving nitrogen from their associated microbial community, while N. erecta was obtaining nitrogen solely from external sources. Sequence analysis of the microbial communities showed a diversity of metabolic capabilities among the microbes of the low δ¹⁵N group, which are lacking in the high δ¹⁵N group, further supporting metabolic differences between the two groups. This research provides support for hypotheses of mutualisms between sponges and their associated microbial communities.     

Reptile and arboreal marsupial response to replanted vegetation in agricultural landscapes.

We report reptile and arboreal marsupial responses to vegetation planting and remnant native vegetation in agricultural landscapes in southeastern Australia. We used a hierarchical survey to select 23 landscapes that varied in the amounts of remnant native vegetation and planted native vegetation. We selected two farms within each landscape. In landscapes with plantings, we selected one farm with and one farm without plantings. We surveyed arboreal marsupials and reptiles on four sites on each farm that encompassed four vegetation types (plantings 7-20 years old, old-growth woodland, naturally occurring seedling regrowth woodland, and coppice [i.e., multistemmed] regrowth woodland). Reptiles and arboreal marsupials were less likely to occur on farms and in landscapes with comparatively large areas of plantings. Such farms and landscapes had less native vegetation, fewer paddock trees, and less woody debris within those areas of natural vegetation. The relatively large area of planting on these farms was insufficient to overcome the lack of these key structural attributes. Old-growth woodland, coppice regrowth, seedling regrowth, and planted areas had different habitat values for different reptiles and arboreal marsupials. We conclude that, although plantings may improve habitat conditions for some taxa, they may not effectively offset the negative effects of native vegetation clearing for all species, especially those reliant on old-growth woodland. Restoring suitable habitat for such species may take decades to centuries.     

Species traits as predictors of lepidopteran composition in restored and remnant tallgrass prairies.

Restoration ecologists are increasingly turning to the development of trait-filter models, which predict how evolved traits limit species membership within assemblages depending on existing abiotic or biotic constraints, as a tool to explain how species move from a regional species pool into a restored community. Two often untested assumptions of these models, however, are that species traits can reliably predict species' broadscale distribution and that the effects of traits on community membership do not vary between restored and remnant habitats. The goals of this study were to determine whether combinations of ecological traits predispose moth species toward recolonization of restored prairies and to assess the degree to which restored prairies contain moth assemblages comparable with prairie remnants. In 2004, we collected 259 moth species from 13 tallgrass prairie remnants and restorations in central Iowa. Principal components analysis (PCA) was used to identify significant combinations of ecological traits that were shared by groups of moth species. Logistic regression was then employed to test for significant effects of the trait combinations on the frequency of prairie sites occupied by moth species. PCA partitioned moth traits into four axes that explained a total of 81.6% of the variance. Logistic regression detected significant effects for all four PCA axes on the fraction of sites occupied by moths. Species frequently filtered from the regional species pool into prairies were those that had long flight periods and were multivoltine, displayed a feeding preference for legumes but not other forb families, and were regionally abundant but relatively small in body size. Ordination revealed significant differences in moth communities among prairies, suggesting that species traits and habitat characteristics likely interact to create observed patterns of species recolonization of restorations. Thus, the optimal approach to restoring the lepidopteran fauna of tallgrass prairies may involve locating prairie plantings adjacent to habitat remnants.