A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. We report here that the original family for whom the condition is named and five other families have a recurrent mutation (2881C>T, leading to R961W) in MED12 (also called TRAP230 or HOPA), a gene located at Xq13 that functions as a thyroid receptor-associated protein in the Mediator complex.     

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Autosomal recessive osteopetrosis is usually associated with normal or elevated numbers of nonfunctional osteoclasts. Here we report mutations in the gene encoding RANKL (receptor activator of nuclear factor-KB ligand) in six individuals with autosomal recessive osteopetrosis whose bone biopsy specimens lacked osteoclasts. These individuals did not show any obvious defects in immunological parameters and could not be cured by hematopoietic stem cell transplantation; however, exogenous RANKL induced formation of functional osteoclasts from their monocytes, suggesting that they could, theoretically, benefit from exogenous RANKL administration.     

A massive phytoplankton bloom induced by an ecosystem-scale iron fertilization experiment in the equatorial Pacific Ocean

The seeding of an expanse of surface waters in the equatorial Pacific Ocean with low concentrations of dissolved iron triggered a massive phytoplankton bloom which consumed large quantities of carbon dioxide and nitrate that these microscopic plants cannot fully utilize under natural conditions. These and other observations provide unequivocal support for the hypothesis that phytoplankton growth in this oceanic region is limited by iron bioavailability.     

Transmission of cutaneous leishmaniasis by sand flies is enhanced by regurgitation of fPPG

Sand flies are the exclusive vectors of the protozoan parasite Leishmania, but the mechanism of transmission by fly bite has not been determined nor incorporated into experimental models of infection. In sand flies with mature Leishmania infections the anterior midgut is blocked by a gel of parasite origin, the promastigote secretory gel. Here we analyse the inocula from Leishmania mexicana-infected Lutzomyia longipalpis sand flies. Analysis revealed the size of the infectious dose, the underlying mechanism of parasite delivery by regurgitation, and the novel contribution made to infection by filamentous proteophosphoglycan (fPPG), a component of promastigote secretory gel found to accompany the parasites during transmission. Collectively these results have important implications for understanding the relationship between the parasite and its vector, the pathology of cutaneous leishmaniasis in humans and also the development of effective vaccines and drugs. These findings emphasize that to fully understand transmission of vector-borne diseases the interaction between the parasite, its vector and the mammalian host must be considered together.     

Cannibalism in the Madagascan dinosaur Majungatholus atopus

Many lines of evidence have been brought to bear on the question of theropod feeding ecology, including functional and physiological considerations, morphological constraints, taphonomic associations, and telling--although rare--indications of direct ingestion. Tooth marks of theropods, although rarely described and generally left unassigned to a particular taxon, can provide unique clues into predator-prey interaction, and can also yield insights into the extent of carcass utilization. Here we describe a sample of tooth-marked dinosaur bone recovered from three well-documented localities in the Upper Cretaceous Maevarano Formation of Madagascar that provides insights into the feeding ecology of the abelisaurid theropod Majungatholus atopus. Intensely tooth-marked elements from multiple individuals show that Majungatholus defleshed dinosaur carcasses. Furthermore, Majungatholus clearly fed upon the remains of not only sauropods, but also conspecifics, and thus was a cannibal. Cannibalism is a common ecological strategy among extant carnivores, but until now the evidence in relation to carnivorous dinosaurs has been sparse and anecdotal.