Mutations and deletions of the homeobox transcription factor gene SHOX are known to cause short stature. The authors have analysed SHOX enhancer regions in a large cohort of short stature patients to ...study the importance of regulatory regions in developmentally relevant genes like SHOX.
The authors tested for the presence of copy number variations in the pseudoautosomal region of the sex chromosomes in 735 individuals with idiopathic short stature and compared the results to 58 cases with Leri-Weill syndrome and 100 normal height controls, using fluorescence in situ hybridisation (FISH), single nucleotide polymorphism (SNP), microsatellites, and multiplex ligand dependent probe amplification (MLPA) analysis.
A total of 31/735 (4.2%) microdeletions were identified in the pseudoautosomal region in patients with idiopathic short stature; eight of these microdeletions (8/31; 26%) involved only enhancer sequences residing a considerable distance away from the gene. In 58 Leri-Weill syndrome patients, a total of 29 microdeletions were identified; almost half of these (13/29; 45%) involve enhancer sequences and leave the SHOX gene intact. These deletions were absent in 100 control persons.
The authors conclude that enhancer deletions in the SHOX gene region are a relatively frequent cause of growth failure in patients with idiopathic short stature and Leri-Weill syndrome. The data highlights the growing recognition that regulatory sequences are of crucial importance in the genome when diagnosing and understanding the aetiology of disease.
Background: Short stature affects approximately 2% of children, representing one of the more frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic ...heterogeneity, mutations or deletions of the short stature homeobox-containing gene (SHOX) are found quite frequently in subjects with short stature. Haploinsufficiency of the SHOX gene causes short stature with highly variable clinical severity, ranging from isolated short stature without dysmorphic features to Léri-Weill syndrome, and with no functional copy of the SHOX gene, Langer syndrome. Methods: To characterise the clinical and molecular spectrum of SHOX deficiency in childhood we assessed the association between genotype and phenotype in a large cohort of children of short stature from 14 countries. Results: Screening of 1608 unrelated individuals with sporadic or familial short stature revealed SHOX mutations or deletions in 68 individuals (4.2%): complete deletions in 48 (70.6%), partial deletions in 4 (5.9%) and point mutations in 16 individuals (23.5%). Although mean height standard deviation score (SDS) was not different between participants of short stature with or without identified SHOX gene defects (–2.6 vs –2.6), detailed examination revealed that certain bone deformities and dysmorphic signs, such as short forearm and lower leg, cubitus valgus, Madelung deformity, high-arched palate and muscular hypertrophy, differed markedly between participants with or without SHOX gene defects (p<0.001). Phenotypic data were also compared for 33 children with Turner syndrome in whom haploinsufficiency of SHOX is thought to be responsible for the height deficit. Conclusion: A phenotype scoring system was developed that could assist in identifying the most appropriate subjects for SHOX testing. This study offers a detailed genotype-phenotype analysis in a large cohort of children of short stature, and provides quantitative clinical guidelines for testing of the SHOX gene.
Photosystem II (PS II) inhibitors halt electron flow within the photosynthetic electron transport chain, thereby leading to increased oxidative stress. As a result, their addition to mesotrione, ...which inhibits carotenoid biosynthesis by inhibition of the enzyme 4-hydroxyphenylpyruvate dioxygenase (HPPD), is complementary. Field and greenhouse experiments were conducted in 2002 and 2003 to investigate the joint action of POST mesotrione plus PS II inhibitor herbicide combinations. The joint action of mesotrione plus PS II inhibitors was investigated across five plant species, three PS II inhibitors, and two moisture environments to determine their influence on the joint action response. Rates of mesotrione evaluated ranged from 4.4 to 87.6 g ai/ha alone and in combination with reduced rates of atrazine, bromoxynil, and metribuzin. In the field, all combinations of mesotrione at 8.8, 17.5, and 35.0 g/ha plus atrazine, bromoxynil, or metribuzin were synergistic for necrosis 6 d after treatment (DAT) on sunflower. Addition of atrazine at 280 g/ha to mesotrione at 8.8 g/ha increased velvetleaf leaf necrosis by 18 to 47%. In the greenhouse, the addition of bromoxynil at 70 g/ha to mesotrione at 17.5 g/ha increased leaf necrosis by 23 to 34% and biomass reduction by 38 to 47%. Synergism on Palmer amaranth occurred similarly under both normal and dry moisture environments at application. Plant height at application was found to influence detection of synergism on the whole-plant level.
Herbicide‐resistant crops like glyphosate resistant (GR) soybean Glycine max (L.) Merr. are gaining acceptance in U.S. cropping systems. Comparisons from cultivar performance trials suggest a yield ...suppression may exist with GR soybean. Yield suppressions may result from either cultivar genetic differentials, the GR gene/gene insertion process, or glyphosate. Grain yield of GR is probably not affected by glyphosate. Yield suppression due to the GR gene or its insertion process (GR effect) has not been reported. We conducted a field experiment at four Nebraska locations in 2 yr to evaluate the GR effect on soybean yield. Five backcross‐derived pairs of GR and non‐GR soybean sister lines were compared along with three high‐yield, nonherbicide‐resistant cultivars and five other herbicide‐resistant cultivars. Glyphosate resistant sister lines yielded 5% (200 kg ha−1) less than the non‐GR sisters (GR effect). Seed weight of the non‐GR sisters was greater than that of the GR sisters (in 1999) and the non‐GR sister lines were 20 mm shorter than the GR sisters. Other variables monitored were similar between the two cultivar groups. The high‐yield, nonherbicide‐resistant cultivars included for comparison yielded 5% more than the non‐GR sisters and 10% more than the GR sisters.
Glyphosate (N‐(phosphonomethyl) glycine)‐resistant (GR) soybean Glycine max (L.) Merr. technology is gaining acceptance in U.S. cropping systems, yet potential yield suppression from either cultivar ...genetic differentials, the GR gene/gene insertion process, or glyphosate is a concern. Other work shows that the GR gene/gene insertion process may suppress soybean yield. No one has reported the effects of glyphosate on a diverse group of commercially available GR soybean cultivars. In this study we evaluated one of the potential sources of GR yield suppression—the effect of glyphosate on yield, growth, and development of GR cultivars. Field experiments were conducted at four Nebraska locations with12 GR cultivars in 1998 and 13 GR cultivars in 1999. Soybean response to glyphosate, ammonium sulfate (AMS), and water application at 21 and 42 d after soybean emergence was compared with control plots treated with AMS and water in 1998. An additional control, water alone, was added in 1999. Grain yield among cultivars differed as expected with a range of 3.44 to 3.96 Mg ha−1 in the 2‐yr averages. Glyphosate did not affect the majority of the soybean growth and development characteristics measured. Grain yield of GR soybean was not affected by glyphosate at any location or when averaged over locations. Two‐year average grain yield of cultivars treated with glyphosate, AMS, and water was 3.74 Mg ha−1; this was not different from 3.79 Mg ha−1 with AMS and water treatment.
Field experiments were conducted to evaluate the effect of five spray-nozzle types and three drift-control adjuvants (DCA) on glyphosate spray drift. The extended-range (XR) flat-fan nozzle at 280 ...kPa was used as the standard comparison. DCAs were evaluated for drift reduction with the use of the XR and air-induction (AI) nozzles. Wind speed ranged from 1.3 to 9.4 m/s (3 to 21 mph). Lethal drift (DL) and injury drift (DI) were determined by downwind visual observation of grain sorghum response. Drift distances were measured from the spray swath edge. The Turbo FloodJet and AI nozzles reduced DLdistance by 34%. All four drift-reducing (DR) nozzles reduced DIdistance by 22 to 32%. Reducing the pressure of the XR flat-fan nozzle from 280 to 140 kPa did not reduce DLor DIdistance. When applied through AI nozzles, each DCA increased droplet volume diameter, one DCA reduced DIdistance and none reduced DLdistance when applied through XR tips. The DCAs did not affect DLor DIdistance.
Studies to predict pesticide fate often lack measurements of model input parameters. Using independent data sets and understanding how soil properties affect herbicide retention and degradation may ...result in more accurate prediction of herbicide fate. We conducted laboratory studies to determine the influence of soil properties on atrazine adsorption and degradation. These data will be used in a separate study involving a pesticide fate model. Atrazine adsorption and desorption isotherms were constructed for six soil depths of a Hastings silty clay loam (fine, montmorillonitic, mesic Udic Argiustoll) using batch equilibration. The Freundlich adsorption constants (log Kf
) ranged from 0.38 (60 to 90 cm) to 2.91 (0 to 30 cm). Adsorption was higher in the low pH, high organic matter-containing surface soil compared to the lower soil depths. Multiple regression of the adsorption constants against selected soil properties indicated that organic matter content was the best single predictor of atrazine adsorption (R
2 = 0.98) followed by soil pH (R
2 = 0.82). Combining organic matter and cation exchange capacity in the model produced the lowest Cp
statistic (2.33) and highest R
2 value (0.99). We observed hysteresis in atrazine adsorption–desorption isotherms by higher adsorption slopes (1/n)ads compared to desorption slopes (1/n)des. Soils that adsorbed more atrazine also desorbed less atrazine. Desorption correlated negatively with organic matter content and positively with soil pH. Atrazine degradation after 84 d of incubation generally decreased with increasing depth. The first-order degradation rate was highest 0 to 30 cm deep (0.0187 day−1) and lowest 270 to 300 cm deep (0.0031 day−1). Atrazine degradation was faster in soil treated annually for 12 yr than in soil with no previous atrazine history (p = 0.01).
Human growth is influenced not only by environmental and internal factors but also by a large number of different genes. One of these genes,
SHOX, is believed to play a major role in growth, since ...defects in this homeobox-containing gene on the sex chromosomes lead to syndromal short stature (Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia, and Turner syndrome) as well as to idiopathic short stature. We have analyzed 118 unrelated patients with Léri-Weill dyschondrosteosis and >1,500 patients with idiopathic short stature for deletions encompassing
SHOX. Deletions were detected in 34% of the patients with Léri-Weill dyschondrosteosis and in 2% of the patients with idiopathic short stature. For 27 patients with Léri-Weill dyschondrosteosis and for 6 with idiopathic short stature, detailed deletion mapping was performed. Analysis was performed by polymerase chain reaction with the use of pseudoautosomal polymorphic markers and by fluorescence in situ hybridization with the use of cosmid clones. Here, we show that, although the identified deletions vary in size, the vast majority (73%) of patients tested share a distinct proximal deletion breakpoint. We propose that the sequence present within this proximal deletion breakpoint “hotspot” region predisposes to recurrent breaks.
Abstract
The next core-collapse supernova in the Milky Way or its satellites will represent a once-in-a-generation opportunity to obtain detailed information about the explosion of a star and provide ...significant scientific insight for a variety of fields because of the extreme conditions found within. Supernovae in our galaxy are not only rare on a human timescale but also happen at unscheduled times, so it is crucial to be ready and use all available instruments to capture all possible information from the event. The first indication of a potential stellar explosion will be the arrival of a bright burst of neutrinos. Its observation by multiple detectors worldwide can provide an early warning for the subsequent electromagnetic fireworks, as well as signal to other detectors with significant backgrounds so they can store their recent data. The supernova early warning system (SNEWS) has been operating as a simple coincidence between neutrino experiments in automated mode since 2005. In the current era of multi-messenger astronomy there are new opportunities for SNEWS to optimize sensitivity to science from the next galactic supernova beyond the simple early alert. This document is the product of a workshop in June 2019 towards design of SNEWS 2.0, an upgraded SNEWS with enhanced capabilities exploiting the unique advantages of prompt neutrino detection to maximize the science gained from such a valuable event.
Field and growth chamber experiments determined the efficacy of temporal glyphosate applications on velvetleaf. Glyphosate was applied postemergence to velvetleaf periodically before and during light ...and after dark. In 1999, glyphosate at 840 g ae/ha applied before sunrise and after midday provided 54 and 100% velvetleaf control, respectively. In 2000, glyphosate at 840 g/ha applied before sunrise, midday, and after sunset provided 69, 100, and 37% velvetleaf control, respectively. In the growth chamber, glyphosate at 840 g/ha applied before or after light reduced velvetleaf biomass 15 to 20% or 32 to 47%, respectively, and reduced velvetleaf height 24% or 45 to 54%, respectively. Velvetleaf control was consistently greater with glyphosate applications during light compared with dark, regardless of constant air temperature and relative humidity (growth chamber), dew absence or presence (field and growth chamber), or leaf blade orientation (growth chamber) with natural light-dark movements or a fixed horizontal position.
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