Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects. Here we report autozygosity mapping and show that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, although the condition is genetically heterogeneous. Mutation analysis identified five frameshift mutations in FRAS1, which encodes one member of a family of novel proteins related to an extracellular matrix (ECM) blastocoelar protein found in sea urchin. The FRAS1 protein contains a series of N-terminal cysteine-rich repeat motifs previously implicated in BMP metabolism, suggesting that it has a role in both structure and signal propagation in the ECM. It has been speculated that Fraser syndrome is a human equivalent of the blebbed phenotype in the mouse, which has been associated with mutations in at least five loci including bl. As mapping data were consistent with homology of FRAS1 and bl, we screened DNA from bl/bl mice and identified a premature termination of mouse Fras1. Thus, the bl mouse is a model for Fraser syndrome in humans, a disorder caused by disrupted epithelial integrity in utero.     

Phylogeography: English elm is a 2,000-year-old Roman clone

The outbreak of Dutch elm disease in the 1970s ravaged European elm populations, killing more than 25 million trees in Britain alone; the greatest impact was on Ulmus procera, otherwise known as the English elm. Here we use molecular and historical information to show that this elm derives from a single clone that the Romans transported from Italy to the Iberian peninsula, and from there to Britain, for the purpose of supporting and training vines. Its highly efficient vegetative reproduction and its inability to set seeds have preserved this clone unaltered for 2,000 years as the core of the English elm population--and the preponderance of this susceptible variety may have favoured a rapid spread of the disease.     

Post-mating clutch piracy in an amphibian

Female multiple mating and alternative mating systems can decrease the opportunity for sexual selection. Sperm competition is often the outcome of females mating with multiple males and has been observed in many animals, and alternative reproductive systems are widespread among species with external fertilization and parental care. Multiple paternity without associated complex behaviour related to mating or parental care is also seen in simultaneously spawning amphibians and fishes that release gametes into water. Here we report 'clutch piracy' in a montane population of the common frog Rana temporaria, a reproductive behaviour previously unknown in vertebrates with external fertilization. Males of this species clasp the females and the pair deposits one spherical clutch of eggs. No parental care is provided. 'Pirate' males search for freshly laid clutches, clasp them as they would do a female and fertilize the eggs that were left unfertilized by the 'parental' male. This behaviour does not seem to be size-dependent, and some males mate with a female and perform clutch piracy in the same season. Piracy affected 84% of the clutches and in some cases increased the proportion of eggs fertilized, providing direct fitness benefits both for the pirate males and the females. Sexual selection--probably caused by a strong male-biased sex ratio--occurs in this population, as indicated by size-assortative mating; however, clutch piracy may reduce its impact. This provides a good model to explore how alternative mating strategies can affect the intensity of sexual selection.     

Intuitionism, transformational generative grammar and mental acts

A remarkable philosophical affinity may be observed between the intuitionistic conception of mathematics and the transformational generative approach to the study of language: both disciplines profess a mentalistic ontology, both posit an idealized subject, and both insist on their autonomy with respect to other disciplines. This philosophical parallel is formalized in terms of a generalization of the intuitionistic notion of creative subject; resulting are the foundations of a unified theory of mental (propositional) acts based on intuitionistic logic — capturing, inter alia, similarities between proof acts and speech acts. As an application of the theory, it is then shown how the notion of mental act may provide for an insightful formalization of various hypotheses pertaining to the linguistic dependence or relativity of mathematics.     

On Spatial and Temporal ex mensura Boundaries

In this paper we will propose an empirical analysis of spatial and temporal boundaries. Unlike other proposals, which deal mainly with the commonsense level of the subject, we will ground our explication on well-established scientific practice and language. In this way we show how to reconsider in an innovative way questions such as the distinction between the bona fide boundaries and the fiat boundaries, the thickness and the ownership of the boundaries. At the same time we propose a division between ex mensura boundaries and qui vulgo dicuntur boundaries. What is it, therefore, that divides the atmosphere from the water? [Leonardo da Vinci, Notebooks]      

Mesenchymal stem cells from preterm to term newborns undergo a significant switch from anaerobic glycolysis to the oxidative phosphorylation

We evaluated the energy metabolism of human mesenchymal stem cells (MSC) isolated from umbilical cord (UC) of preterm (< 37 weeks of gestational age) and term (≥ 37 weeks of gestational age) newborns, using MSC from adult bone marrow as control. A metabolic switch has been observed around the 34th week of gestational age from a prevalently anaerobic glycolysis to the oxidative phosphorylation. This metabolic change is associated with the organization of mitochondria reticulum: preterm MSCs presented a scarcely organized mitochondrial reticulum and low expression of proteins involved in the mitochondrial fission/fusion, compared to term MSCs. These changes seem governed by the expression of CLUH, a cytosolic messenger RNA-binding protein involved in the mitochondria biogenesis and distribution inside the cell; in fact, CLUH silencing in term MSC determined a metabolic fingerprint similar to that of preterm MSC. Our study discloses novel information on the production of energy and mitochondrial organization and function, during the passage from fetal to adult life, providing useful information for the management of preterm birth.     

Population dynamics and phenology of two congeneric and sympatric lynx spiders Peucetia rubrolineata Keyserling, 1877 and Peucetia flava Keyserling, 1877 (Oxyopidae)

Numerous phenological studies on spiders belonging to the families Oxyopidae, Thomisidae, Lycosidae, Selenopidae (e.g. Selenops cocheleti) and Salticidae (e.g. Psecas chapoda and Psecas viridipurpureus) have been conducted in the neotropical region. However, studies that simultaneously compare population dynamics and age structure in populations of sympatric species are limited, especially in Oxyopidae. The population dynamics and phenology of two congeneric lynx spider (Peucetia rubrolineata and Peucetia flava) were examined in southeastern Brazil. Several characteristics of the age structure were compared between the two spider species. The variation in the total abundance of individuals and age structure and their relationship with climatic variables were similar between the two spiders. Adults of these spiders were present mainly in spring, indicating an annual reproductive cycle and a ‘stenochronous spring’ phenological pattern. The recruitment of spiders occurred in summer for P. rubrolineata and P. flava, followed by successive phenological peaks at all stages of development. Rainfall and temperature had a positive correlation to population flux in the two spider species studied. Despite the significant climatic effects observed in the Serra do Japi, the phenological pattern of the population in this study was not always repeated in other species of spiders (e.g. Selenops cocheleti).