A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

We report heterozygous mutations in the genes encoding either type I or type II transforming growth factor beta receptor in ten families with a newly described human phenotype that includes widespread perturbations in cardiovascular, craniofacial, neurocognitive and skeletal development. Despite evidence that receptors derived from selected mutated alleles cannot support TGFbeta signal propagation, cells derived from individuals heterozygous with respect to these mutations did not show altered kinetics of the acute phase response to administered ligand. Furthermore, tissues derived from affected individuals showed increased expression of both collagen and connective tissue growth factor, as well as nuclear enrichment of phosphorylated Smad2, indicative of increased TGFbeta signaling. These data definitively implicate perturbation of TGFbeta signaling in many common human phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, congenital heart disease and mental retardation, and suggest that comprehensive mechanistic insight will require consideration of both primary and compensatory events.     

Eating and drinking induced by cerebral-ventricular injections in rats with lesions in the lateral hypothalamus

Résumé Par des lésions bilatérales hypothalamiques on a rendu des rats aphagiques et adipsiques. Durant la période de convalescence, on a injecté dans le ventricule latéral du pentotal de sodium (ce qui normalement fait manger les animaux) et une solution saline hypertonique (qui normalement les fait boire). On a trouvé qu'après les lésions les rats ne réagissent que lorsqu'ils sont redevenus capables de manger et de boire spontanément.

---

---

This work was supported in part by a grant from the National Institute of Neurological Diseases and Blindness, No. NB 01941, of the National Institutes of Health, U.S. Public Health Service, Bethesda, Maryland; by a grant from the National Science Foundation, No. GB-4594, Washington, D.C.; and the Fund for Research and Teaching of the Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts.     

Why fishing magnifies fluctuations in fish abundance

It is now clear that fished populations can fluctuate more than unharvested stocks. However, it is not clear why. Here we distinguish among three major competing mechanisms for this phenomenon, by using the 50-year California Cooperative Oceanic Fisheries Investigations (CalCOFI) larval fish record. First, variable fishing pressure directly increases variability in exploited populations. Second, commercial fishing can decrease the average body size and age of a stock, causing the truncated population to track environmental fluctuations directly. Third, age-truncated or juvenescent populations have increasingly unstable population dynamics because of changing demographic parameters such as intrinsic growth rates. We find no evidence for the first hypothesis, limited evidence for the second and strong evidence for the third. Therefore, in California Current fisheries, increased temporal variability in the population does not arise from variable exploitation, nor does it reflect direct environmental tracking. More fundamentally, it arises from increased instability in dynamics. This finding has implications for resource management as an empirical example of how selective harvesting can alter the basic dynamics of exploited populations, and lead to unstable booms and busts that can precede systematic declines in stock levels.     

The inner jet of an active galactic nucleus as revealed by a radio-to-gamma-ray outburst

Blazars are the most extreme active galactic nuclei. They possess oppositely directed plasma jets emanating at near light speeds from accreting supermassive black holes. According to theoretical models, such jets are propelled by magnetic fields twisted by differential rotation of the black hole's accretion disk or inertial-frame-dragging ergosphere. The flow velocity increases outward along the jet in an acceleration and collimation zone containing a coiled magnetic field. Detailed observations of outbursts of electromagnetic radiation, for which blazars are famous, can potentially probe the zone. It has hitherto not been possible to either specify the location of the outbursts or verify the general picture of jet formation. Here we report sequences of high-resolution radio images and optical polarization measurements of the blazar BL Lacertae. The data reveal a bright feature in the jet that causes a double flare of radiation from optical frequencies to TeV gamma-ray energies, as well as a delayed outburst at radio wavelengths. We conclude that the event starts in a region with a helical magnetic field that we identify with the acceleration and collimation zone predicted by the theories. The feature brightens again when it crosses a standing shock wave corresponding to the bright 'core' seen on the images.     

Astrocladistics: A Phylogenetic Analysis of Galaxy Evolution II. Formation and Diversification of Galaxies

This series of papers is intended to evaluate astrocladistics in reconstructing phylogenies of galaxies. The objective of this second paper is to formalize the concept of galaxy formation and to identify the processes of diversification. We show that galaxy diversity can be expected to organize itself in a hierarchy. In order to better understand the role of mergers, we have selected a sample of 43 galaxies from the GALICS database built from simulations with a hybrid model for galaxy formation studies. These simulated galaxies, described by 119 characters and considered as representing still undefined classes, have experienced different numbers of merger events during evolution. Our cladistic analysis yields a robust tree that proves the existence of a hierarchy. Mergers, like interactions (not taken into account in the GALICS simulations), are probably a strong driver for galaxy diversification. Our result shows that mergers participate in a branching type of evolution, but do not seem to play the role of an evolutionary clock.     

Reconstructed changes in Arctic sea ice over the past 1,450 years

Arctic sea ice extent is now more than two million square kilometres less than it was in the late twentieth century, with important consequences for the climate, the ocean and traditional lifestyles in the Arctic. Although observations show a more or less continuous decline for the past four or five decades, there are few long-term records with which to assess natural sea ice variability. Until now, the question of whether or not current trends are potentially anomalous has therefore remained unanswerable. Here we use a network of high-resolution terrestrial proxies from the circum-Arctic region to reconstruct past extents of summer sea ice, and show that-although extensive uncertainties remain, especially before the sixteenth century-both the duration and magnitude of the current decline in sea ice seem to be unprecedented for the past 1,450 years. Enhanced advection of warm Atlantic water to the Arctic seems to be the main factor driving the decline of sea ice extent on multidecadal timescales, and may result from nonlinear feedbacks between sea ice and the Atlantic meridional overturning circulation. These results reinforce the assertion that sea ice is an active component of Arctic climate variability and that the recent decrease in summer Arctic sea ice is consistent with anthropogenically forced warming.