Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

RAB, ADP-ribosylation factors (ARFs) and ARF-like (ARL) proteins belong to the Ras superfamily of small GTP-binding proteins and are essential for various membrane-associated intracellular trafficking processes. None of the approximately 50 known members of this family are linked to human disease. Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying Bardet-Biedl syndrome type 3, a multisystemic disorder characterized by obesity, blindness, polydactyly, renal abnormalities and cognitive impairment. We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins. Analysis of the Caenorhabditis elegans ARL6 homolog indicates that it is specifically expressed in ciliated cells, and that, in addition to the postulated cytoplasmic functions of ARL proteins, it undergoes intraflagellar transport. These findings implicate a small GTP-binding protein in ciliary transport and the pathogenesis of a pleiotropic disorder.     

Recent and episodic volcanic and glacial activity on Mars revealed by the High Resolution Stereo Camera

The large-area coverage at a resolution of 10-20 metres per pixel in colour and three dimensions with the High Resolution Stereo Camera Experiment on the European Space Agency Mars Express Mission has made it possible to study the time-stratigraphic relationships of volcanic and glacial structures in unprecedented detail and give insight into the geological evolution of Mars. Here we show that calderas on five major volcanoes on Mars have undergone repeated activation and resurfacing during the last 20 per cent of martian history, with phases of activity as young as two million years, suggesting that the volcanoes are potentially still active today. Glacial deposits at the base of the Olympus Mons escarpment show evidence for repeated phases of activity as recently as about four million years ago. Morphological evidence is found that snow and ice deposition on the Olympus construct at elevations of more than 7,000 metres led to episodes of glacial activity at this height. Even now, water ice protected by an insulating layer of dust may be present at high altitudes on Olympus Mons.     

Superconductors: time-reversal symmetry breaking?

One of the mysteries of modern condensed-matter physics is the nature of the pseudogap state of the superconducting cuprates. Kaminski et al. claim to have observed signatures of time-reversal symmetry breaking in the pseudogap regime in underdoped Bi2Sr2CaCu2O8+delta (Bi2212). Here we argue that the observed circular dichroism is due to the 51 superstructure replica of the electronic bands and therefore cannot be considered as evidence for spontaneous time-reversal symmetry breaking in cuprates.     

Surface exchange adsorption between precipitates of BaSO4 and solutions of BaCl2, Pb(NO3), CaCl2, CsCl,NaCl, and Na2CrO4

Résumé Nous avons étudié l'adsorption d'échange entre des précipités de BaSO₄ et des solutions de BaCl₂, Pb(NO₃)₂ et CaCl₂ à l'aide de «tracers». Nous avons trouvé que l'adsorption peut être représentée par l'équation (1) pour l'adsorption d'échange; la capacité d'adsorption de notre BaSO₄ était égale à 1,4 × 10^–5 éq./g. Les grandeurs caractéristiquesf, figurant dans l'équation pour l'adsorption d'échange, avaient les valeursf(Ba)=1;f(Pb)=0,44;f(Ca)=0,00137. Il n'était pas possible de démontrer l'adsorption de CsCl, NaCl or Na₂CrO₄ de solutions aqueuses.     

Enlarged ventricles in the cerebrum of loop-tail mice

Résumé Les souris hétérozygotes appartenant à la mutation «loop-tail» (Lp) présentent une hydrocéphalie interne du télencéphale. Jusqu'ici, cette anomalie ainsi que les torsions de la queue et l'oscillation de la tête qui l'accompagnent n'avaient pas été étudiés en détail. Nous avons constaté que par suite de l'élargissement des ventricules encéphaliques, les structures cérébrales qui les entourent sont réduites, déformées ou déplacées. Ces aberrations neuro-anatomiques jettent de la lumière sur les perturbations du comportement observées chez ces mutants.     

La question des hétérochromosomes chez les Sauropsidés. I. Reptiles

Summary In contradiction to some Japanese authors (Oguma, Makino, Nakamura), we are unable to find any difference in the chromosome sets of the male and female ofLacerta vivipara (2N = 36). In a saurian, where the analysis is very easy (Chamaeleon bitaeniatus), there are, without the smallest doubt, 24 chromosomes in both sexes (20M + 4m). The evidence of a female heterogamety in turtles is by no means satisfying.