Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)

Fibroblasts from a fetus with the prenatal diagnosis of mosaic trisomy 20 were cloned by dilution plating. Adenosine deaminase (ADA), a biochemical marker for chromosome 20, was assayed in trisomic clones and normal clones as control. The cytogenetic diagnosis was substantiated by demonstration of a triplex gene dosage effect for ADA in the trisomic cells.     

High-resolution inventory of NO emissions from agricultural soils over the Ile-de-France region

Arable soils are a significant source of nitric oxide (NO), a precursor of tropospheric ozone, and thereby contribute to ozone pollution. However, their actual impact on ozone formation is strongly related to their spatial and temporal emission patterns, which warrant high-resolution estimates.Here, we combined an agro-ecosystem model and geo-referenced databases to map these sources over the 12 000 km² administrative region surrounding Paris, France, with a kilometric level resolution. The six most frequent arable crop species were simulated, with emission rates ranging from 1.4 kg N-NO ha⁻¹ yr⁻¹ to 11.1 kg N-NO ha⁻¹ yr⁻¹. The overall emission factor for fertilizer-derived NO emissions was 1.7%, while background emissions contributed half of the total NO efflux. Emissions were strongly seasonal, being highest in spring due to fertilizer inputs. They were mostly sensitive to soil type, crops' growing season and fertilizer N rates.     

The residential lakeshore access allocation problem: Minimizing barrier effects on shoreline habitat buffers

Residential lakeshore development is causing increasing pressure on the lacustrine environment. Traditional landscaping patterns produce lakes ringed with lawns at the expense of the naturally occurring shoreline habitat. In this work, we present a mathematical model to select path locations to minimize impacts on the lakeshore environment, while providing convenient access to the landowners.     

A phycocyanin probe as a tool for monitoring cyanobacteria in freshwater bodies

In many countries, the presence of cyanobacteria in freshwater bodies used for both drinking water and recreational purposes is under increasing public health attention. Water managers are considering how to implement monitoring that leads to a minimization of the risks incurred by the users of potentially contaminated sites. To address this question, this study involved assessing the performance of a submersible probe for measuring phycocyanin-specific fluorescence as a function of cyanobacterial biomass, with the aim of applying it as a tool for surveillance management. Its advantages and limits compared to more traditional analyses are discussed. The monitoring of cyanobacteria in the water bodies of western France was carried out using a minifluorimeter specific to the fluorescence of phycocyanin, a pigment specific to cyanobacteria. The results are compared with the analyses recommended by the World Health Organisation (chlorophyll a and cell counting). This study based on nearly 800 samples shows a significant correlation between the phycocyanin content and the cyanobacterial biomass, expressed as the number of cells per mL (R2 = 0.73). This submersible probe is simple and rapid to use, making it possible to take into account horizontal and vertical heterogeneities in the proliferation growth. In this way, we are able to detect at an early stage the conditions that could potentially lead to a risk, in order to start sampling. Due to its sensitivity, this tool proves suitable for monitoring aimed at reducing the risks incurred by the users of contaminated sites and launching preventative actions. The use of the phycocyanin probe provides an effective tool to complement traditional analyses of cyanobacterial presence. It is suggested that a surveillance protocol based on phycocyanin concentration can significantly improved the accuracy of the extent of cyanobacterial bloom development in the light of spatial and temporal variabilities associated with these occurrences.     

Astomia-agnathia-holoprosencephaly association. Prenatal diagnosis of a new case

A case of agnathia-astomia-holoprosencephaly with prenatal ultrasound diagnosis at 23 weeks is reported and discussed. This lethal neurocristopathy, well known in mammalians, is rarely observed in humans. Prenatal diagnosis features are intrauterine growth retardation, mandible absence or major hypoplasia, holoprosencephaly, cyclopia or hypotelorism, and in some instances frontal proboscis. This malformation is usually sporadic, but may be genetically determined as an autosomal recessive trait, since two cases in the same sibship have been reported.     

Population structure of the common sole (<Emphasis Type="Italic">Solea solea</Emphasis>) in the Northeastern Atlantic and the Mediterranean Sea: revisiting the divide with EPIC markers

Spatial and temporal population genetic structures of the common sole, Solea solea, were studied in Northeastern Atlantic and Mediterranean Sea populations, using three polymorphic exon-primed intron-crossing (EPIC) markers. Results demonstrated significant multilocus differentiation among Eastern Mediterranean and a group composed by Western Mediterranean and Atlantic populations (θ = 0.150, P < 0.001), but also suggested unrecorded genetic differentiation of the Adriatic Sea population. No pattern of isolation-by-distance was recorded across the range covered by sampling, from the Kattegat to the Aegean Sea. Conversely to genetically structured Mediterranean populations, Atlantic populations ranging from Denmark to Portugal could be considered as representative of the same panmictic unit (θ = 0.009, not significant). Results further demonstrated stability of multilocus genetic structure among temporarily replicated cohort samples [0+, 1+, subadults] from several coastal and estuarine locations from Bay of Biscay, excepted for the amylase locus Am2B3-2 at one location (Pertuis d’Antioche). Despite coherence of such observed patterns of multilocus differentiation with previous allozymic surveys in sole, and with patterns generally obtained for other marine fish species, single-locus results from EPICs indicated divergent coalescence schemes supporting a complex response to ecology and history of sole’s populations. Results stress the use of nuclear genes such as EPIC markers to investigate population structure, but also historical, demographic, and possibly selective processes in marine fishes.     

Characterisation of soil emissions of nitric oxide at field and laboratory scale using high resolution method

Agricultural soils may account for 10% of anthropogenic emissions of NO, a precursor of tropospheric ozone with potential impacts on air quality and global warming. However, the estimation of this biogenic source strength and its relationships to crop management is still challenging because of the spatial and temporal variability of the NO fluxes.Here, we present a combination of new laboratory- and field-scale methods to characterise NO emissions and single out the effects of environmental drivers.First, NO fluxes were continuously monitored over the growing season of a maize-cropped field located near Paris (France), using 6 automatic chambers. Mineral fertilizer nitrogen was applied from May to October 2005. An additional field experiment was carried out in October to test the effects of N fertilizer form on the NO emissions. The automatic chambers were designed to measure simultaneously the NO and N₂O gases. Laboratory measurements were carried out in parallel using soil cores sampled at same site to test the response of NO fluxes to varying soil N–NH₄ and water contents, and temperatures. The effects of soil core thickness were also analysed.The highest NO fluxes occurred during the first 5 weeks following fertilizer application. The cumulative loss of NO–N over the growing season was estimated at 1.5 kg N ha^?1, i.e. 1.1% of the N fertilizer dose (140 kg N ha^?1). All rainfall events induced NO peak fluxes, whose magnitude decreased over time in relation to the decline of soil inorganic N. In October, NO emissions were enhanced with ammonium forms of fertilizer N. Conversely, the application of nitrate-based fertilizers did not significantly increase NO emissions compared to an unfertilized control. The results of the subsequent laboratory experiments were in accordance with the field observations in magnitude and time variations. NO emissions were maximum with a water soil content of 15% (w w^?1), and with a NH₄–N content of 180 mg NH₄–N kg soil^?1. The response of NO fluxes to soil temperature was fitted with two exponential functions, involving a Q₁₀ of 2.0 below 20 °C and a Q₁₀ of 1.4 above. Field and laboratory experiments indicated that most of the NO fluxes originated from the top 10 cm of soil. The characterisation of this layer in terms of mean temperature, NH₄ and water contents is thus paramount to explaining the variations of NO fluxes.     

Fixism and conservation science

The field of biodiversity conservation has recently been criticized as relying on a fixist view of the living world in which existing species constitute at the same time targets of conservation efforts and static states of reference, which is in apparent disagreement with evolutionary dynamics. We reviewed the prominent role of species as conservation units and the common benchmark approach to conservation that aims to use past biodiversity as a reference to conserve current biodiversity. We found that the species approach is justified by the discrepancy between the time scales of macroevolution and human influence and that biodiversity benchmarks are based on reference processes rather than fixed reference states. Overall, we argue that the ethical and theoretical frameworks underlying conservation research are based on macroevolutionary processes, such as extinction dynamics. Current species, phylogenetic, community, and functional conservation approaches constitute short‐term responses to short‐term human effects on these reference processes, and these approaches are consistent with evolutionary principles.     

21,000 Years of Ethiopian African monsoon variability recorded in sediments of the western Nile deep-sea fan

The Nile delta sedimentation constitutes a continuous high-resolution record of Ethiopian African monsoon (EAM) regime intensity. Multi-proxy analyses performed on hemipelagic sediments deposited on the Nile deep-sea fan allow the quantification of the Saharan aeolian dust and the Blue/White Nile River suspended matter frequency fluctuations during the last 21,000 years. The radiogenic strontium and neodymium isotopes, clay mineralogy, elemental composition and preliminary palynological analyses reveal large changes in source components, oscillating between a dominant aeolian Saharan contribution during the Last Glacial Maximum (LGM) and the late Holocene (~4,000–2,000 years), a dominant Blue/Atbara Nile River contribution during the early Holocene (15,000–8,000 years) and a probable White Nile River contribution during the middle Holocene (8,000–4,000 years). The following main features are highlighted: (1) The rapid shift from the LGM arid conditions to the African Humid Period (AHP) started at about 15,000 years. The AHP extends until 8,000 years, and we suggest that the EAM maximum between 15,000 and 8,000 years is responsible for a larger Blue/Atbara Nile sediment load and freshwater input into the eastern Mediterranean Sea. (2) The transition between the AHP and the arid late Holocene is gradual and occurs in two main phases between 8,400–6,500 years and 6,500–3,200 years. We suggest that the main rain belt shifted southward from 8,000 to ~4,000 years and was responsible for progressively reduced sediment load and freshwater input into the eastern Mediterranean Sea. (3) The aridification along the Nile catchments occurred from ~4,000 to 2,000 years. This dry period, which culminates at 3,200 year, seems to coincide with a re-establishment of increased oceanic primary productivity in the western Mediterranean Sea. Such a pattern imposes a large and rapid northward shift of the rain belt over the Ethiopian highlands (5–15°N) since 15,000 years. Precipitation over Ethiopia increased from 15,000 to 8,000 years. It was followed by a gradual southward shift of the rain belt over the equator from 8,000 to 4,000 years and finally a large shift of the rain belt south the equator between 4,000 and 2,000 years inducing North African aridification. We postulate that the decrease in thermohaline water Mediterranean circulation could be part of a response to huge volumes of freshwater delivered principally by the Nile River from 15,000 to 8,000 years in the eastern Mediterranean.