Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The occurrence of one or more of these phenotypes in the same individual or family suggests that these entities might be allelic. We collected data from three families in which affected individuals had osteopoikilosis with or without manifestations of BOS or melorheostosis. A genome-wide linkage analysis in these families, followed by the identification of a microdeletion in an unrelated individual with these diseases, allowed us to map the gene that is mutated in osteopoikilosis. All the affected individuals that we investigated were heterozygous with respect to a loss-of-function mutation in LEMD3 (also called MAN1), which encodes an inner nuclear membrane protein. A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis. XMAN1, the Xenopus laevis ortholog, antagonizes BMP signaling during embryogenesis. In this study, LEMD3 interacted with BMP and activin-TGFbeta receptor-activated Smads and antagonized both signaling pathways in human cells.     

A cryo-electron microscopic study of ribosome-bound termination factor RF2

Protein synthesis takes place on the ribosome, where genetic information carried by messenger RNA is translated into a sequence of amino acids. This process is terminated when a stop codon moves into the ribosomal decoding centre (DC) and is recognized by a class-1 release factor (RF). RFs have a conserved GGQ amino-acid motif, which is crucial for peptide release and is believed to interact directly with the peptidyl-transferase centre (PTC) of the 50S ribosomal subunit. Another conserved motif of RFs (SPF in RF2) has been proposed to interact directly with stop codons in the DC of the 30S subunit. The distance between the DC and PTC is approximately 73 A. However, in the X-ray structure of RF2, SPF and GGQ are only 23 A apart, indicating that they cannot be at DC and PTC simultaneously. Here we show that RF2 is in an open conformation when bound to the ribosome, allowing GGQ to reach the PTC while still allowing SPF-stop-codon interaction. The results indicate new interpretations of accuracy in termination, and have implications for how the presence of a stop codon in the DC is signalled to PTC.     

Mourning dove use of man-made ponds in a cold-desert ecosystem in Idaho

Mourning doves ( Zenaida macroura ) in a cold-desert ecosystem used man-made ponds for watering, feeding, gritting, loafing, and courting. Diurnal pond use by doves peaked in the morning and evening. Monthly dove use of ponds fluctuated slightly during the summers of 1984 and 1985. Pond size, pH, and shoreline characteristics had little association with the intensity of pond use by doves; but geographic isolation of ponds was weakly associated with pond-use intensity. The number of doves present at the beginning of the one-hour period was a poor indicator of the number of arrivals during that period. We conclude that man-made water sources are important in areas where water availability may limit mourning dove productivity and abundance. It is suggested that mourning dove arrival rates could be used as a population index in cold-desert areas.     

Winter macroinvertebrate communities in two montane Wyoming streams

Macroinvertebrate communities were examined on 4 winter dates over a 4-yr period in 2 high-altitude Rocky Mountain streams to document overwintering assemblages potentially experiencing spring acid pulses. Taxa richness values were comparable to other published lists for alpine and montane stream systems despite the fact that most literature reflected summer collections. Mean benthic density ranged from 1406 to 19,734 organisms/m 2 , and drift rates ranged from 0 to 1740 organisms/100 m 3 . Benthic collections showed higher taxa richness than drift collections while the Ephemeroptera and Plecoptera occurred in greater proportions in drift than in benthos. The Nemouridae (Plecoptera), Ephemerellidae and Heptageniidae (Ephemeroptera), Chironomidae (Diptera), and Hydracarina were the numerically dominant taxa in benthic collections. Grazer/scrapers and shredder/detritivores were always the numerically dominant functional feeding groups at all sites, composing 60-90% of the benthos. Predators, constituting approximately 15% of the community, occurred in the same relative proportion at all sites on all dates. Winter macroinvertebrate communities in these low-order, montane streams exhibit high taxonomic richness and benthic densities as great as lower-elevation mountain streams in the West.     

The Knowledge Age or the Age of Ignorance and the Decline of Freedom?

Increasingly knowledge has become a determining factor in achieving life’s potential and is the currency of the age. Without access to Information an individuals’ knowledge base cannot be enriched and without knowledge the individual becomes increasingly powerless. Advances in technology have provided opportunities for some to add to their stock of knowledge but access to sources of information is uneven and can lead to social unrest. The availability of information is an important factor in managing change and empowering citizens. The question about information and power then becomes one of ownership or sovereignty of the information. If we are to create an open society then we need to ensure that there is open access to knowledge through flexible and intelligent information systems that are available for all. In this paper we consider if we are truly entering the knowledge age or the age of ignorance.