IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

Jeune asphyxiating thoracic dystrophy, an autosomal recessive chondrodysplasia, often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency; retinal degeneration, cystic renal disease and polydactyly may be complicating features. We show that IFT80 mutations underlie a subset of Jeune asphyxiating thoracic dystrophy cases, establishing the first association of a defective intraflagellar transport (IFT) protein with human disease. Knockdown of ift80 in zebrafish resulted in cystic kidneys, and knockdown in Tetrahymena thermophila produced shortened or absent cilia.     

Biology and conservation of the Coral Pink Sand Dunes tiger beetle, Cicindela limbata albissima Rumpp

This study investigated the distribution, abundance, and biology of Cicindela limbata albissima Rumpp, an endemic tiger beetle known only from the Coral Pink Sand Dunes (CPSD) in southwestern Utah. A recently implemented conservation agreement between BLM, USFWS, Utah State Parks, and Kane County protects most of the known habitat of this beetle from off-highway vehicle (OHV) use. A search of collection records and field surveys of 19 Great Basin sand dune sites indicated that this species occurs only at CPSD. Yearly index counts of adults (1992-1998) during peak season in May ranged from 331 in 1997 to 895 in 1993, but the actual population size is probably 2-3 times higher than the index counts. Nearly all of the population is found in the primary habitat, a 300-m-wide × 2.7-km-long area in the southern part of the dune field. Small numbers of adults and larvae have been found at the far north end of the dune field. Mark-recapture studies indicated that most adults moved only short distances ( Surveys of dominant plant species, arthropod (potential tiger beetle prey) abundance, and OHV activity indicated that these vary throughout the dune field and may explain, in part, the distribution of C. l. albissima . The primary habitat is a transition area between the highly dynamic south end of the dune field and the more stabilized north end. Psoralidium lanceolatum Rybd., Sophora stenophylla Gray, and Stipa hymenoides R.&S. are the dominant plants in the interdunal swales of the primary habitat, but other species are dominant in other parts of the dune field. Numbers of arthropod individuals and taxa are greatest in the primary habitat. Off-highway vehicle activity was greatest at the south end of the dune field and lowest at the far north end. Run-over trials and observational data revealed that adult beetles are killed by OHVs, but more important impacts may be damage to vegetation, reduction of arthropod prey of C. l. albissima , and disturbance and increased desiccation of the larval microhabitat. We anticipate that the conservation agreement will provide long-term protection for this species at CPSD.     

Changes in red blood cell choline and choline-bound lipids with oral lithium

Summary The influence of oral lithium on the concentration of red blood cell choline (Ch), lecithin, glycerophosphorylcholine (GPCh) and phosphorylcholine (PCh) was studied. The concentration of RBC Ch was significantly elevated and the concentration of lecithin, GPCh and PCh significantly depressed in 16 patients on oral lithium compared to 9 age-matched controls. We conclude that lithium markedly depletes the red blood cell of choline containing compounds including lecithin. These changes may be responsible for both the therapeutic efficacy and the toxicity of lithium.     

Changes in red blood cell choline and choline-bound lipids with oral lithium

The influence of oral lithium on the concentration of red blood cell choline (Ch), lecithin, glycerophosphorylcholine (GPCh) and phosphorylcholine (PCh) was studied. The concentration of RBC Ch was significantly elevated and the concentration of lecithin, GPCh and PCh significantly depressed in 16 patients on oral lithium compared to 9 age-matched controls. We conclude that lithium markedly depletes the red blood cell of choline containing compounds including lecithin. These changes may be responsible for both the therapeutic efficacy and the toxicity of lithium.     

Role of lysine side chains in metallothionein

Summary pK_a-Values of lysine residues of mammalian metallothionein were determined by chemical titration measurements of -CH₂ lysine resonances in the¹H-NMR spectra. They are about 0.5 pH-unit higher than the average pK_a-value of a metal-free derivative, suggesting interaction of the positively charged residues with the two three-fold negatively charged metal-thiolate clusters of the metal-containing form. Deprotonation of the lysines leads to circular dichroism changes attributable to an electrostatically induced structural transition of the protein.To whom correspondence concerning this paper should be addressed.