Common variants near MC4R are associated with fat mass, weight and risk of obesity

To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the strongest association signal (rs17782313, P = 2.9 x 10(-6)) mapped 188 kb downstream of MC4R (melanocortin-4 receptor), mutations of which are the leading cause of monogenic severe childhood-onset obesity. We confirmed the BMI association in 60,352 adults (per-allele effect = 0.05 Z-score units; P = 2.8 x 10(-15)) and 5,988 children aged 7-11 (0.13 Z-score units; P = 1.5 x 10(-8)). In case-control analyses (n = 10,583), the odds for severe childhood obesity reached 1.30 (P = 8.0 x 10(-11)). Furthermore, we observed overtransmission of the risk allele to obese offspring in 660 families (P (pedigree disequilibrium test average; PDT-avg) = 2.4 x 10(-4)). The SNP location and patterns of phenotypic associations are consistent with effects mediated through altered MC4R function. Our findings establish that common variants near MC4R influence fat mass, weight and obesity risk at the population level and reinforce the need for large-scale data integration to identify variants influencing continuous biomedical traits.     

Inside the Kunstkammer: the circulation of optical knowledge and instruments at the Dresden Court

The Kunstkammer of the Electors of Saxony, founded in Dresden around 1560, housed one of the richest collections of tools and scientific instruments in its day. A close analysis of the optical objects in the collection in the decades around 1600 is undertaken here—in particular, their arrangement by a mathematically trained curator, Lucas Brunn, and their use in an ‘experiment’ by a distinguished visitor, Johannes Kepler. It is argued that the selection, display and use of optical objects within this collection reflect a specific, playful image of optics promoted at the Saxon court.     

Electroreception in the catfish,Amiurus nebulosus

Zusammenfassung Zwergwelse (Amiurus nebulosus) sind elektrisch sehr empfindlich. Geblendete Tiere sprechen, je nach der Stromstärke, auf schwache Ströme ohne Dressur mit biologisch bedeutsamen Reaktionen an: Ausweichen oder Annähern und gegebenenfalls Schnappen. Auf Grund einseitiger Denervierungsversuche konnte festgestellt werden, dass die sehr zahlreichen äusseren Geschmacksknospen mit dem Empfang schwachelektrischer Reize nichts zu tun haben. Als Elektrorezeptoren erweisen sich vielmehr die anatomisch zur Gruppe der ampullären Seitensinnesorgane gehörigen, ebenfalls in weiter Verbreitung am Körper vorkommenden «small pit organs».     

Loss and recovery of wings in stick insects

The evolution of wings was the central adaptation allowing insects to escape predators, exploit scattered resources, and disperse into new niches, resulting in radiations into vast numbers of species. Despite the presumed evolutionary advantages associated with full-sized wings (macroptery), nearly all pterygote (winged) orders have many partially winged (brachypterous) or wingless (apterous) lineages, and some entire orders are secondarily wingless (for example, fleas, lice, grylloblattids and mantophasmatids), with about 5% of extant pterygote species being flightless. Thousands of independent transitions from a winged form to winglessness have occurred during the course of insect evolution; however, an evolutionary reversal from a flightless to a volant form has never been demonstrated clearly for any pterygote lineage. Such a reversal is considered highly unlikely because complex interactions between nerves, muscles, sclerites and wing foils are required to accommodate flight. Here we show that stick insects (order Phasmatodea) diversified as wingless insects and that wings were derived secondarily, perhaps on many occasions. These results suggest that wing developmental pathways are conserved in wingless phasmids, and that 're-evolution' of wings has had an unrecognized role in insect diversification.     

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology.     

Die Sinneswelt der Fledermäuse

Ohne Zusammenfassung     

Elektrophysiologische Untersuchungen an der Seitenlinie vonXenopus laevis

Summary Electrophysiological recording of the spontaneous activity from a single group of lateral sense organs on the abdomen ofXenopus laevis results in a more or less regular series of large spikes, either all of the same height or of two different sizes (each group is innervated by two large lateralis fibres). Mechanical stimulation of such a group may cause a rise or a fall of spontaneous impulse frequency. There is evidence for a two-directional sensitivity of the same unit (nerve fibre) from a single group, out of the middle as well as out of the dorsal lateral line.