Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

Small nuclear RNAs (snRNAs) are essential factors in messenger RNA splicing. By means of homozygosity mapping and deep sequencing, we show that a gene encoding U4atac snRNA, a component of the minor U12-dependent spliceosome, is mutated in individuals with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), a severe developmental disorder characterized by extreme intrauterine growth retardation and multiple organ abnormalities. Functional assays showed that mutations (30G>A, 51G>A, 55G>A, and 111G>A) associated with MOPD I cause defective U12-dependent splicing. Endogenous U12-dependent but not U2-dependent introns were found to be poorly spliced in MOPD I patient fibroblast cells. The introduction of wild-type U4atac snRNA into MOPD I cells enhanced U12-dependent splicing. These results illustrate the critical role of minor intron splicing in human development.     

Occurrence and infectivity of arbuscular mycorrhizal fungi in some norwegian soils influenced by heavy metals and soil properties

Mycorrhizae are ubiquitous symbiosis which can mediate uptake of some plant nutrients. In polluted soils they could be of great importance in heavy metal availability and toxicity to plants. Mycorrhizae have also been reported to protect plants against toxic metals. We investigated the occurrence and infectivity of arbuscular mycorrhizal (AM) spores as affected by heavy metal levels and other soil properties in Norwegian soils collected from heavy metal polluted, high natural background and non-polluted areas. Spore numbers, mycorrhizal infectivity and spore germination of indigenous mycorrhizal fungi and of a reference strain (Glomus mosseae) in soils showed lower values in two soils with high metal concentrations and in one soil with a low pH. Mycorrhizal infectivity was negatively correlated with extractable metals. Spore number and mycorrhizal infectivity in a soil with naturally high heavy metal content were not different to in non-polluted soils, and indigenous AM fungi appeared more tolerant to metals than those in non-polluted soils. Mycorrhizal infectivity, expressed as MSI₅₀ values, was significantly correlated (r′=0.89, P< 0.05) with the percentage of germinating G. mosseae spores in the soils. However, the number of spores per volume of soil was not significantly correlated with infectivity or spore germination of the reference strain. The spore germination method is discussed as a bioassay of heavy metal toxicity in soil.     

The relationship between local extinctions of grassland butterflies and increased soil nitrogen levels

In contrast to many other western European countries, the knowledge about trends in the Swedish butterfly fauna is poor. We studied the effects of habitat and species characteristics on species turnover in 13 grassland sites in southern Sweden by comparing species richness and compositions at two separate occasions with an interval of 21 years. The mean number of species per site decreased from 30 to 24, with a large variation between sites. The number of extinctions was highest in sites where the proportion of trees and shrubs had increased most, but there was no detectable effect of area or of the composition of landscapes surrounding the sites. Areas protected as nature reserves had lost as many species as unprotected areas had, indicating both the importance of proper management of nature reserves and that nature reserves alone may not be enough to inhibit regional extinction of butterfly species. Species dependent on nutrient-poor conditions tended to decrease while species dependent on nutrient-rich conditions tended to increase, indicating a negative effect of increased soil nitrogen levels resulting from active fertilizing of pastures and/or atmospheric nitrogen deposition. A regular monitoring program could show whether our results are representative for Sweden or Northern Europe.     

Modeling vertical movement of organic matter in a soil incubated for 41 years with C labeled straw

The distribution of organic matter (OM) in the soil profile reflects the balance between inputs and decomposition at different depths as well as transport of OM within the profile. In this study we modeled movement of OM in the soil profile as a result of mechanisms resulting in dispersive and advective movement. The model was used to interpret the distribution of ¹⁴C in the soil profile 41 years after the labeling event. The model fitted the observed distribution of ¹⁴C well (R²=0.988, AIC_c=−82.6), with a dispersion constant of D=0.71 cm² yr⁻¹ and an advection constant of v=0.0081 cm yr⁻¹. However, the model consistently underestimated the amount of OM in the soil layers from 27 to 37 cm depth. A possible explanation for this is that different fractions of OM are transported by different mechanisms. For example, particulate OM, organomineral colloids and dissolved OM are not likely to be transported by the same mechanisms. A model with two OM fractions, one moving exclusively by dispersive processes (D=0.26 cm² yr⁻¹) and another moving by both dispersive (D=0.99 cm² yr⁻¹) and advective (v=0.23 cm yr⁻¹) processes provided a slightly better fit to the data (R²=0.995, AIC_c=−83.6). More importantly, however, this model did not show the consistent underestimation from 27 to 37 cm soil depth. This corroborates the assumption that differing movement mechanisms for different OM fractions are responsible for the observed distribution of ¹⁴C in the profile. However, varying dispersion, advection, and decay of OM with depth are also possible explanations.     

Mineralization of carbon and nitrogen from fresh and anaerobically stored sheep manure in soils of different texture

A sandy loam soil was mixed with three different amounts of quartz sand and incubated with (¹⁵NH₄)₂SO₄ (60 g N g^-1 soil) and fresh or anaerobically stored sheep manure (60 g g^-1 soil). The mineralization-immobilization of N and the mineralization of C were studied during 84 days of incubation at 20°C. After 7 days, the amount of unlabelled inorganic N in the manure-treated soils was 6–10 g N g^-1 soil higher than in soils amended with only (¹⁵NH₄)₂SO₄. However, due to immobilization of labelled inorganic N, the resulting net mineralization of N from manure was insignificant or slightly negative in the three soil-sand mixtures (100% soil+0% quartz sand; 50% soil+50% quartz sand; 25% soil+75% quartz sand). After 84 days, the cumulative CO₂ evolution and the net mineralization of N from the fresh manure were highest in the soil-sand mixutre with the lowest clay content (4% clay); 28% fo the manure C and 18% of the manure N were net mineralized. There was no significant difference between the soil-sand mixtures containing 8% and 16% clay, in which 24% of the manure C and -1% to 4% of the manure N were net mineralized. The higher net mineralization of N in the soil-sand mixture with the lowest clay content was probably caused by a higher remineralization of immobilized N in this soil-sand mixture. Anaerobic storage of the manure reduced the CO₂ evolution rates from the manure C in the three soil-sand mixtures during the initial weeks of decomposition. However, there was no effect of storage on net mineralization of N at the end of the incubation period. Hence, there was no apparent relationship between net mineralization of manure N and C.     

Simultaneous identification of soyasaponins and isoflavones and quantification of soyasaponin Bb in soy products,using liquid chromatography/electrospray ionization-mass spectrometry

A method has been developed for simultaneous identification of soyasaponins and soy isoflavones in soy products, based on liquid chromatography/electrospray ionization-mass spectrometry (LC/ESI-MS). Soy-based nutraceutical products were analyzed by LC/ESI-MS with detection of protonated and sodiated molecular ions, as well as characteristic fragment ions for these compounds. Soy isoflavones were characterized by a strong protonated molecular ion in addition to corresponding [aglycone + H](+) ions. Monitoring the soyasaponin-specific protonated aglycone and dehydrated aglycone ions throughout the chromatogram provided a unique fingerprint for soyasaponin content in the samples. This mass spectrometric fingerprint also allowed immediate classification of the soyasaponin analytes as group A or B soyasaponins, based on the unique masses of aglycone ions observed for each class. Quantification of soyasaponin B(b) in soy-derived materials, based on the use of a purified soyasaponin B(b) standard and a glycyrrhizin internal standard, has been accomplished.     

Die Prüfung forstlicher Baumarten auf Resistenz gegen parasitäre Pilze1

Resistance test against parasitic fungi in forest trees in Sweden. Forest resistance research is carried out at the Department of Forest Botany and Pathology at the Royal College of Forestry in Stockholm in close contact with Forest Genetics research and is performed as a resistance test of plants from seed orchards and tested progenies. Biochemical research concerning the resistance mechanism and an electronmicroscopic investigation is carried out. At present the     

Cervical and Thoracic Vertebral Malformation ("Weak Neck") in Colombia Lambs

The purpose of this study is to describe a developmental defect of the caudal cervical and cranial thoracic vertebrae in 11 purebred Colombia lambs. The lambs were either affected at birth, or developed the condition within the first 18 days of age. Cervicothoracic kyphosis, with a compensatory cervical lordosis and ataxia were common; 8 lambs had abnormal head posture, characterized by inability to lift the head from the ground. One lamb had rigid head and neck, and had to move the entire body to look to the left or right. Neurological signs included ataxia, tetraparesis, diminished conscious proprioception, and increased patellar and triceps reflexes. One lamb had inspiratory stridor because of compression of the trachea in the area overlying the abnormal vertebrae (cervical vertebrae 6 [C6] and 7 [C7]). Radiographic and pathological abnormalities included malalignment and malarticulation of the caudal cervical and cranial thoracic spine, rounded cranioventral margins in the bodies of vertebrae C7 and T1, wedging of the intervertebral disc spaces between C6 and T1 vertebrae, and hypoplasia of the dens. Pathological changes in the soft tissues included hypoplasia of the cervical epaxial and hypaxial musculature, with associated focal areas of myodegeneration. Mild Wallerian axonal degeneration, compatible with a mild cord compression syndrome, was found in 3 lambs in the cervicothoracic spinal cord adjacent to the vertebral anomalies. The concentrations of copper and selenium in blood, plasma, or tissues were normal in 10 of 11 lambs. All but one of the lambs in which pedigree information was provided were genetically related. Siblings born as twins to 5 of the affected lambs were normal, but both lambs from one twin pregnancy were affected. Owners reported that breeding stock had been shared among the ranches. Because of the close familial relationships of the affected lambs, the condition is suspected to have a hereditary basis.