Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients. Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence. Absence of PCNT results in disorganized mitotic spindles and missegregation of chromosomes. Mutations in related genes are known to cause primary microcephaly (MCPH1, CDK5RAP2, ASPM, and CENPJ).     

Population biology of sugar pine (Pinus lambertiana Dougl.) with reference to historical disturbances in the Lake Tahoe Basin: Implications for restoration

Historical logging, fire suppression, and an invasive pathogen, Cronartium ribicola, the cause of white pine blister rust (WPBR), are assumed to have dramatically affected sugar pine (Pinus lambertiana) populations in the Lake Tahoe Basin. We examined population- and genetic-level consequences of these disturbances within 10 sugar pine populations by assessing current population structure and trends for 1129 individuals, genetic diversity for 250 individuals, and frequency of WPBR-resistance for 102 families. Logging had occurred in 9 of 10 sites and fire suppression was evident in all stands. High density of white fir (Abies concolor) is often an indicator of fire suppression and we found a negative relationship between sugar pine survivorship and white fir basal area (r² = 0.31). C. ribicola was present in 90% of stands (incidence range: 0-48%) and we found a significant relationship between mean host survivorship and disease incidence (r² = 0.46). We estimated population growth rates (λ) from size-based transition matrices. For six of 10 sugar pine populations λ was ?1.0, indicating that these populations appear to be stable; for four populations, λ was <1.0, indicating populations that may be in decline. A population specific drift parameter, c_i, which is a measure of genetic differentiation in allele frequencies relative to an ancestral population, ranged from 0.009 to 0.048. Higher values of c_i indicate greater genetic drift, possibly due to a bottleneck caused by historical logging, other agents of mortality or much older events affecting population sizes. Effects of drift are known to be greater in small populations and we found a negative relationship between sugar pine density and c_i (r² = 0.36). Allele frequency of the Cr1 gene, responsible for WPBR-resistance in sugar pine, averaged 0.068 for all populations sampled; no WPBR infection was found in one population in which the Cr1 frequency was 0.112. Historical disturbances and their interactions have likely influenced the population biology of sugar pine in the Tahoe Basin; for some populations this has meant reduced population size, higher genetic drift, and poor survival of small- and intermediate-sized individuals. Possible management strategies include restoring population numbers, deploying WPBR-resistance, treating stands to promote natural sugar pine regeneration, and enhancing genetic diversity.     

Synthetic mammalian prions

Recombinant mouse prion protein (recMoPrP) produced in Escherichia coli was polymerized into amyloid fibrils that represent a subset of beta sheet-rich structures. Fibrils consisting of recMoPrP(89-230) were inoculated intracerebrally into transgenic (Tg) mice expressing MoPrP(89-231). The mice developed neurologic dysfunction between 380 and 660 days after inoculation. Brain extracts showed protease-resistant PrP by Western blotting; these extracts transmitted disease to wild-type FVB mice and Tg mice overexpressing PrP, with incubation times of 150 and 90 days, respectively. Neuropathological findings suggest that a novel prion strain was created. Our results provide compelling evidence that prions are infectious proteins.     

Vertebrate-type intron-rich genes in the marine annelid Platynereis dumerilii

Previous genome comparisons have suggested that one important trend in vertebrate evolution has been a sharp rise in intron abundance. By using genomic data and expressed sequence tags from the marine annelid Platynereis dumerilii, we provide direct evidence that about two-thirds of human introns predate the bilaterian radiation but were lost from insect and nematode genomes to a large extent. A comparison of coding exon sequences confirms the ancestral nature of Platynereis and human genes. Thus, the urbilaterian ancestor had complex, intron-rich genes that have been retained in Platynereis and human.     

Studies on dynamic torsional viscoelasticity of wood

Summary The modulus of torsion and the mechanical damping has been investigated on test pieces of beech wood (Fagus sylvatica L.) with transverse fibre direction by means of a torsional pendulum. Both characteristics have been determined as a function of temperature (from 20 ... 100°C) and moisture content (from 5 percent to fibre saturation). At a frequency of about 1 cycle per second a transition region has been found characterized by a large decrease of the modulus of torsion and a distinct maximum of damping.The temperature-dependent processes of relaxation with well-defined activation energy lie at moisture contents of more than 12 percent. They have been interpreted by molecular motions which take place between the secondary valencies of the hydroxyl groups in the amorphous areas of the partial crystalline substance of the cell wall and which are favoured by the incorporation of water. The transition region is displaced to lower temperatures with increasing moisture content. In this respect the moisture content acts analogically to synthetic polymers as a plasticizer. The efficiency of plasticizers, which is the correlation between the concentration of the plasticizer and the temperature displacement of the maximum of damping respectively of the decrease of the modulus of torsion, is also used for a characterization of the influence of moisture content on the viscoelastic behaviour of the native high polymer wood.

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Zusammenfassung An quer zur Faser orientierten Proben aus Buchenholz (Fagus sylvatica L.) wurden der Drillungsmodul und der mechanische Verlustfaktor mit einem Torsionspendel gemessen. In Abhängigkeit von der Temperatur (von 20 ... 100°C) und der Holzfeuchtigkeit (von 5% bis Fasersättigung) wurde bei Frequenzen im Bereich von 1 Hz ein Dispersionsgebiet mit starkem Modulabfall und ausgeprägtem Dämpfungsmaximum gefunden.Die temperaturabhängigen Relaxationsprozesse mit eindeutiger Aktivierungsenergie liegen bei Holzfeuchtigkeiten oberhalb 12%. Sie werden in der Weise gedeutet, daß in den amorphen Bereichen der partiell kristallinen Zellwandsubstanz Molekülbewegungen zwischen den Nebenvalenzen der Hydroxylgruppen entstehen, die durch die Einlagerung des Wassers begünstigt werden. Mit zunehmendem Holzfeuchtigkeitsgehalt wird das Dispersionsgebiet nach tieferen Temperaturen hin verschoben. Der Wassergehalt verhält sich hierbei, in Analogie zu den Kunststoffen, wie ein Weichmacher. Die für die,, Weichmacherwirksamkeit gebräuchliche Beziehung zwischen Weichmacherkonzentration und Temperatureverschiebung des Dämpfungsmaximums bzw. des Modulabfalls wird auch für das native Hochpolymer Holz übernommen, um den Einfluß des Feuchtigkeitsgehaltes auf das visko-elastiche Verhalten des Holzes zu beschreiben.

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Contributed from the Institute of Wood Physics and Mechanical Wood Technology of the Federal Research Organization for Forestry and Forest Products, Hamburg-Reinbek.

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The authors wish to express their thanks to Mr. H. Funke for his valuable assistance in the performance and evaluation of the torsional experiments. Furthermore, we are thanking the Deutsche Gesellschaft für Holzforschung and the Arbeitsgemeinschaft Industrieller Forschungsvereinigungen for the funds backing this project.     

Improvement of earthworm (Lumbricidae) community and activity in mine soils from open-cast coal mining by the application of different organic waste materials

Earthworms are important members of the decomposer food web in a wide range of sites. Previous field investigations on the development of earthworm populations of mine soils in the Lusatian coal mining region, Germany, have shown quite small population densities in quaternary sands and less or even no earthworms present in sandy soils derived from tertiary deposits. The aim of the present investigation was to improve the development of earthworm populations in mine soils from tertiary deposits by applying various types and amounts of organic waste residues, such as sewage sludge, composted sewage sludge, and green waste derived compost. Additionally, we were interested in the stimulation effect of organic waste materials on parameters of earthworm activity, such as food consumption and burrowing activity. The investigations were carried out in field mesocosms and laboratory experiments (microcosms; observation cages). In general, the population density, fresh biomass, food consumption, and the burrowing activity of earthworms were significantly improved by the application of the various organic waste materials compared with mineral fertilizers. Fresh sewage sludge in addition to composted sewage sludge were found to be the most favourable organic waste residues compared with green waste derived composts. The addition of brown coal sludge to sewage sludge did not reduced the stimulation effect. There was considerable variation in the population structure of a defined earthworm community which was exposed in the mesocosms during a two year period in relation to the types and amounts of the organic waste materials applied.