Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome

Incontinentia pigmenti (IP), or "Bloch-Sulzberger syndrome," is an X-linked dominant disorder characterized by abnormalities of skin, teeth, hair, and eyes; skewed X-inactivation; and recurrent miscarriages of male fetuses. IP results from mutations in the gene for NF-kappaB essential modulator (NEMO), with deletion of exons 4-10 of NEMO accounting for >80% of new mutations. Male fetuses inheriting this mutation and other "null" mutations of NEMO usually die in utero. Less deleterious mutations can result in survival of males subjects, but with ectodermal dysplasia and immunodeficiency. Male patients with skin, dental, and ocular abnormalities typical of those seen in female patients with IP (without immunodeficiency) are rare. We investigated four male patients with clinical hallmarks of IP. All four were found to carry the deletion normally associated with male lethality in utero. Survival in one patient is explained by a 47,XXY karyotype and skewed X inactivation. Three other patients possess a normal 46,XY karyotype. We demonstrate that these patients have both wild-type and deleted copies of the NEMO gene and are therefore mosaic for the common mutation. Therefore, the repeat-mediated rearrangement leading to the common deletion does not require meiotic division. Hypomorphic alleles, a 47,XXY karyotype, and somatic mosaicism therefore represent three mechanisms for survival of males carrying a NEMO mutation.     

Reduction of ecosystem productivity and respiration during the European summer 2003 climate anomaly: a joint flux tower, remote sensing and modelling analysis

The European CARBOEUROPE/FLUXNET monitoring sites, spatial remote sensing observations via the EOS‐MODIS sensor and ecosystem modelling provide independent and complementary views on the effect of the 2003 heatwave on the European biosphere's productivity and carbon balance. In our analysis, these data streams consistently demonstrate a strong negative anomaly of the primary productivity during the summer of 2003. FLUXNET eddy‐covariance data indicate that the drop in productivity was not primarily caused by high temperatures (‘heat stress’) but rather by limitation of water (drought stress) and that, contrary to the classical expectation about a heat wave, not only gross primary productivity but also ecosystem respiration declined by up to more than to 80 gC m⁻² month⁻¹. Anomalies of carbon and water fluxes were strongly correlated. While there are large between‐site differences in water‐use efficiency (WUE, 1–6 kg C kg⁻¹ H₂O) here defined as gross carbon uptake divided by evapotranspiration (WUE=GPP/ET), the year‐to‐year changes in WUE were small (<1 g kg⁻¹) and quite similar for most sites (i.e. WUE decreased during the year of the heatwave). Remote sensing data from MODIS and AVHRR both indicate a strong negative anomaly of the fraction of absorbed photosynthetically active radiation in summer 2003, at more than five standard deviations of the previous years. The spatial differentiation of this anomaly follows climatic and land‐use patterns: Largest anomalies occur in the centre of the meteorological anomaly (central Western Europe) and in areas dominated by crops or grassland. A preliminary model intercomparison along a gradient from data‐oriented models to process‐oriented models indicates that all approaches are similarly describing the spatial pattern of ecosystem sensitivity to the climatic 2003 event with major exceptions in the Alps and parts of Eastern Europe, but differed with respect to their interannual variability.     

Semiempirical modeling of abiotic and biotic factors controlling ecosystem respiration across eddy covariance sites

In this study we examined ecosystem respiration (R_ECO) data from 104 sites belonging to FLUXNET, the global network of eddy covariance flux measurements. The goal was to identify the main factors involved in the variability of R_ECO: temporally and between sites as affected by climate, vegetation structure and plant functional type (PFT) (evergreen needleleaf, grasslands, etc.). We demonstrated that a model using only climate drivers as predictors of R_ECO failed to describe part of the temporal variability in the data and that the dependency on gross primary production (GPP) needed to be included as an additional driver of R_ECO. The maximum seasonal leaf area index (LAI_MAX) had an additional effect that explained the spatial variability of reference respiration (the respiration at reference temperature T_ref=15 °C, without stimulation introduced by photosynthetic activity and without water limitations), with a statistically significant linear relationship (r²=0.52, P<0.001, n=104) even within each PFT. Besides LAI_MAX, we found that reference respiration may be explained partially by total soil carbon content (SoilC). For undisturbed temperate and boreal forests a negative control of total nitrogen deposition (N_depo) on reference respiration was also identified. We developed a new semiempirical model incorporating abiotic factors (climate), recent productivity (daily GPP), general site productivity and canopy structure (LAI_MAX) which performed well in predicting the spatio‐temporal variability of R_ECO, explaining >70% of the variance for most vegetation types. Exceptions include tropical and Mediterranean broadleaf forests and deciduous broadleaf forests. Part of the variability in respiration that could not be described by our model may be attributed to a series of factors, including phenology in deciduous broadleaf forests and management practices in grasslands and croplands.     

CO2 balance of boreal, temperate, and tropical forests derived from a global database

Terrestrial ecosystems sequester 2.1 Pg of atmospheric carbon annually. A large amount of the terrestrial sink is realized by forests. However, considerable uncertainties remain regarding the fate of this carbon over both short and long timescales. Relevant data to address these uncertainties are being collected at many sites around the world, but syntheses of these data are still sparse. To facilitate future synthesis activities, we have assembled a comprehensive global database for forest ecosystems, which includes carbon budget variables (fluxes and stocks), ecosystem traits (e.g. leaf area index, age), as well as ancillary site information such as management regime, climate, and soil characteristics. This publicly available database can be used to quantify global, regional or biome‐specific carbon budgets; to re‐examine established relationships; to test emerging hypotheses about ecosystem functioning [e.g. a constant net ecosystem production (NEP) to gross primary production (GPP) ratio]; and as benchmarks for model evaluations. In this paper, we present the first analysis of this database. We discuss the climatic influences on GPP, net primary production (NPP) and NEP and present the CO₂ balances for boreal, temperate, and tropical forest biomes based on micrometeorological, ecophysiological, and biometric flux and inventory estimates. Globally, GPP of forests benefited from higher temperatures and precipitation whereas NPP saturated above either a threshold of 1500 mm precipitation or a mean annual temperature of 10 °C. The global pattern in NEP was insensitive to climate and is hypothesized to be mainly determined by nonclimatic conditions such as successional stage, management, site history, and site disturbance. In all biomes, closing the CO₂ balance required the introduction of substantial biome‐specific closure terms. Nonclosure was taken as an indication that respiratory processes, advection, and non‐CO₂ carbon fluxes are not presently being adequately accounted for.     

The European carbon balance. Part 3: forests

We present a new synthesis, based on a suite of complementary approaches, of the primary production and carbon sink in forests of the 25 member states of the European Union (EU‐25) during 1990–2005. Upscaled terrestrial observations and model‐based approaches agree within 25% on the mean net primary production (NPP) of forests, i.e. 520±75 g C m^?2 yr^?1 over a forest area of 1.32 × 10⁶ km² to 1.55 × 10⁶ km² (EU‐25). New estimates of the mean long‐term carbon forest sink (net biome production, NBP) of EU‐25 forests amounts 75±20 g C m^?2 yr^?1. The ratio of NBP to NPP is 0.15±0.05. Estimates of the fate of the carbon inputs via NPP in wood harvests, forest fires, losses to lakes and rivers and heterotrophic respiration remain uncertain, which explains the considerable uncertainty of NBP. Inventory‐based assessments and assumptions suggest that 29±15% of the NBP (i.e., 22 g C m^?2 yr^?1) is sequestered in the forest soil, but large uncertainty remains concerning the drivers and future of the soil organic carbon. The remaining 71±15% of the NBP (i.e., 53 g C m^?2 yr^?1) is realized as woody biomass increments. In the EU‐25, the relatively large forest NBP is thought to be the result of a sustained difference between NPP, which increased during the past decades, and carbon losses primarily by harvest and heterotrophic respiration, which increased less over the same period.     

Nucleotide sequence of the genes for tryptophan synthase in Pseudomonas aeruginosa

We have determined the DNA sequence of the two adjacent genes for the alpha and beta chains of tryptophan synthase in Pseudomonas aeruginosa, along with 34 5'-flanking and 799 3'-flanking base pairs. The gene order is trpBA as predicted from earlier genetic studies, and the two cistrons overlap by 4 bp; a ribosome binding site for the second gene is evident in the coding sequence of the first gene. We have also determined the location of three large deletions eliminating portions of each gene. A detailed comparison of the deduced P. aeruginosa amino acid sequence with those published for E. coli, Bacillus subtilis, and Saccharomyces cerevisiae shows much similarity throughout the beta and most of the alpha subunit. Most of the residues implicated by chemical modification or mutation as being critical for enzymatic activity are conserved, along with many others, suggesting that three-dimensional structure has remained largely constant during evolution. We also report the construction of a recombinant plasmid that overproduces a slightly modified alpha subunit from P. aeruginosa that can form a functionally effective multimer with normal E. coli beta 2 subunit in vivo.      

The genus Dryopteris in the Canary Islands and Azores and the description of two new tetraploid species

From studies in the field, botanic garden and herbarium we concluded that the following four species of Dryopteris grow on the Canary Islands: D. aemula (n = 41) so far found only on Gomera; D. pseudomas (n = 82, apogamous) similarly recorded only for Gomera; D. oligodonta (n = 41) the most common representative of the genus in the Islands is possibly an old Canary endemic related to some African species; D. guanchica a new tetraploid species ( n = 82) hitherto confused with D. austriaca (D. dilatata). On four islands of the Azores the following were found: D. aemula (n = 41); D. azorica (n = 41); D. pseudomas (n = 82, apogamous); and D. crispifolia a new tetraploid species ( n = 82) which is very distinct when living but in the dried pressed state is difficult to differentiate from D. austriaca and D. guanchica.     

Identification of vegetation and soil carbon pools out of equilibrium in a process model via eddy covariance and biometric constraints

Assumptions of steady‐state conditions in biogeochemical modelling are often invoked because knowledge on the development status of the modelling domain is generally unavailable. Here, we investigate the role of vegetation pool sizes on nonequilibrium conditions through model‐data integration approaches for a set of sites using eddy covariance CO₂ flux data. The study is based on the Carnegie–Ames–Stanford Approach (CASA) model, modified (CASA_G) in order to evaluate the sensitivity of simulated net ecosystem production (NEP) fluxes to vegetation pool sizes. The experimental design is based on the inverse model optimization of different parameter vectors performed at the measurement site level. Each parameter vector prescribes different simulation dynamics that embody different model structural assumptions concerning (non)steady‐state conditions in vegetation and soil carbon pools. We further explore the potential of assimilating biometric constraints through the cost function for sites where in situ information on aboveground biomass or wood pools is available. The integration of biometric data yields marked improvements in the simulation of vegetation C pools compared to single constraints with eddy flux data. Overall, it is necessary to relax both vegetation and soil carbon pools for consistency with the observed data streams. Multiple constraints approaches also leads to variable model performance among the different experimental setups and model structures. We identify and assess the limitations of various model structures and the role of multiple constraints approaches for tackling issues of equifinality. These studies emphasize the need for establishing consistent data sets of fluxes and biometric data for successful model‐data fusion.     

Structure and regulation of the anthranilate synthase genes in Pseudomonas aeruginosa: II. Cloning and expression in Escherichia coli

The genes for the large and small subunits of anthranilate synthase (trpE and trpG, respectively) have been cloned from Pseudomonas aeruginosa PAC174 into E. coli by R-prime formation with the broad-host- range plasmid R68.44. Sequential subcloning into plasmid vectors reduced the active Pseudomonas DNA fragment to a length of 3.1 kb. We obtained evidence that this region contains the promoter for its own expression and retains a vestigial regulatory response to tryptophan scarcity or excess.